Computed tomography assessment of bone lesions in patients with POEMS syndrome

International Nuclear Information System (INIS)

Glazebrook, K.; Johnson, Adam; Leng, S.; Dispenzieri, A.; Guerra Bonilla, Francis L.

2015-01-01

To describe the imaging findings on computed tomography (CT) and skeletal survey (SS) in patients with POEMS syndrome. We retrospectively reviewed, with institutional review board approval, the dysproteinemia database at our institution for patients with new diagnosis of POEMS syndrome between January 1998 and December 2008. Twenty-four patients were identified with PET/CT or CT and had skeletal survey (SS) available for review. Twenty-four patients were included in the study group with median age of 47 years. All CTs demonstrated at least one sclerotic lesion. The most common pattern was multiple small lesions, with 18 patients (75 %) having at least 5 lesions less than 1 cm. The larger lesions had a central lytic component and were FDG avid. SS had a false negative rate of 36 % (8 patients). Serial CT after treatment showed a decrease in size and number of sclerotic lesions in 53 % of cases (13 patients), the majority showing increased sclerosis. Two patients had complete resolution of sclerotic lesions. CT identified sclerotic lesions in all study patients with POEMS syndrome, the majority being less than 1 cm in size, which were not identified radiographically. CT may demonstrate increased sclerosis or even resolution of sclerotic lesions corresponding to treatment response. (orig.)

Computed tomography assessment of bone lesions in patients with POEMS syndrome

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Glazebrook, K.; Johnson, Adam; Leng, S.; Dispenzieri, A. [Mayo Clinic, Rochester, MN (United States); Guerra Bonilla, Francis L. [Hospital Regional Rafael Hernandez, Hematology Division, David, Chiriqui (Panama)

2014-09-25

To describe the imaging findings on computed tomography (CT) and skeletal survey (SS) in patients with POEMS syndrome. We retrospectively reviewed, with institutional review board approval, the dysproteinemia database at our institution for patients with new diagnosis of POEMS syndrome between January 1998 and December 2008. Twenty-four patients were identified with PET/CT or CT and had skeletal survey (SS) available for review. Twenty-four patients were included in the study group with median age of 47 years. All CTs demonstrated at least one sclerotic lesion. The most common pattern was multiple small lesions, with 18 patients (75 %) having at least 5 lesions less than 1 cm. The larger lesions had a central lytic component and were FDG avid. SS had a false negative rate of 36 % (8 patients). Serial CT after treatment showed a decrease in size and number of sclerotic lesions in 53 % of cases (13 patients), the majority showing increased sclerosis. Two patients had complete resolution of sclerotic lesions. CT identified sclerotic lesions in all study patients with POEMS syndrome, the majority being less than 1 cm in size, which were not identified radiographically. CT may demonstrate increased sclerosis or even resolution of sclerotic lesions corresponding to treatment response. (orig.)

Bone lesions in Chinese POEMS syndrome patients: imaging characteristics and clinical implications

Directory of Open Access Journals (Sweden)

Fengdan Wang

2016-08-01

Full Text Available Objective. Bone lesion is crucial for diagnosing and management of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin change (POEMS syndrome, a rare plasma cell disorder. This study is to compare the effectiveness of X-ray skeletal survey (SS and computed tomography (CT for detecting bone lesions in Chinese POEMS syndrome patients, and to investigate the relationship between bone lesion features and serum markers. Methods. SS and chest/abdomen/pelvic CT images of 38 Chinese patients (26 males, 12 females, aged 21–70 years with POEMS syndrome recruited at our medical center between January 2013 and January 2015 were retrospectively analyzed. Bone lesions identified by CT were further categorized according to the size (10 mm and appearance (osteosclerotic, lytic, mixed. The percentage of plasma cells in bone marrow smears, type of immunoglobulin, platelet (Plt, and levels of serum bone metabolic markers and inflammatory factors including alkaline phosphatase (ALP, calcium, phosphate, parathyroid hormone (PTH, beta-isomerized C-telopeptide (β-CTx, vascular endothelial growth factor (VEGF, and interleukin (IL-6 levels were also recorded. Results. Of the 38 POEMS syndrome patients, the immunoglobulin heavy chain isotypes were IgA in 25 patients (65.8%; 25/38 and IgG in 13 patients (34.2%; 13/38, and the light chain isotypes were λ in 35 patients (92.1%; 35/38 and κ in 3 patients (7.9%; 3/38. There were 23 patients with thrombocytosis. More patients with bone lesions were detected by CT than by SS (97.4% vs. 86.8%. The most commonly affected location was the pelvis (89.5%, followed by the spine, clavicle/scapula/sternum/ribs, skull, and long bones. Of the 38 POEMS syndrome patients, 35 (94.6% had osteosclerotic and 32 (86.5% had mixed lesions. Osteosclerotic lesions were typically scattered, variable in size, and plaque-like, whereas mixed lesions were pouch-shaped or soup bubble-like with a clear sclerotic margin and were

CT and MRI of congenital nasal lesions in syndromic conditions

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Ginat, Daniel T. [University of Chicago, Department of Radiology, Chicago, IL (United States); Robson, Caroline D. [Harvard Medical School, Department of Radiology, Boston Children' s Hospital, Boston, MA (United States)

2015-07-15

Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article. (orig.)

Reversible splenial lesion on the corpus callosum in nonfulminant hepatitis A presenting as encephalopathy

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Soon Young Ko

2014-12-01

Full Text Available Reversible focal lesions on the splenium of the corpus callosum (SCC have been reported in patients with mild encephalitis/encephalopathy caused by various infectious agents, such as influenza, mumps, adenovirus, Varicella zoster, Escherichia coli, Legionella pneumophila, and Staphylococcus aureus. We report a case of a reversible SCC lesion causing reversible encephalopathy in nonfulminant hepatitis A. A 30-year-old healthy male with dysarthria and fever was admitted to our hospital. After admission his mental status became confused, and so we performed electroencephalography (EEG and magnetic resonance imaging (MRI of the brain, which revealed an intensified signal on diffusion-weighted imaging (DWI at the SCC. His mental status improved 5 days after admission, and the SCC lesion had completely disappeared 15 days after admission.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

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Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz

2008-01-01

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. the NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only gen...

Sensory Loss Mimicking Cauda Equina Syndrome due to Cervical Spinal Lesion in a Patient with Clinically Isolated Syndrome

OpenAIRE

Vinceti, Giulia; Zini, Andrea; Nichelli, Paolo; Mandrioli, Jessica

2012-01-01

We describe the case of a 39-year-old woman with signs and symptoms suggesting cauda equina syndrome. Lumbosacral magnetic resonance imaging (MRI) demonstrated no lesion at this level, while cervical MRI showed a T2-hyperintense lesion in the middle-right anterolateral region of the cervical spinal cord, which may explain the symptoms by involving the anterior spinothalamic tract. We suggest that in cases with cauda equina syndrome presentation and normal lumbosacral MRI, a cervicodorsal lesi...

Clearly delineated lesion in a case of Wallenberg's syndrome by magnetic resonance imaging

International Nuclear Information System (INIS)

Okumiya, Noriya; Yamaguchi, Takenori; Miyashita, Takeshi; Kozuka, Takahiro

1985-01-01

Diagnosis of Wallenberg's syndrome has been made by typical neurological symptoms and signs which are compatible with those of lesion in the lateral aspect of medulla oblongata. Although X-ray CT is an extraordinary useful measure for detecting lesions in the central nervous system, brainstem lesion is difficult to be evaluated by it because of varieties of artifact. A recent advance in techniques of magnetic resonance imaging (MRI) made it possible to produce fairly good images of infratentorial structure without artifact. But, there are no reports on patients with Wallenberg's syndrome whose lesion was clearly delineated by MRI. A 44 year-old man with a history of hypertension was referred to our hospital because of vertigo, pain on the right side of the face, disturbance of swallowing and hiccup 22 days after onset. On admission, neurological examination revealed right Horner's sign, decreased gag reflex and cerebellar ataxia on the right side, and dissociated sensory impairment on the right side of the face and left extremities. Clinical diagnosis of Wallenberg's syndrome was made, but X-ray CT showed no definite lesion in the infratentorial structure. Cerebral angiography revealed occlusion of the right vertebral artery without reflux of contrast media from the left vertebral artery. Then, there was no visualization of the right posterior inferior cerebellar artery. MRI using Magnetom (0.35 Tesla of static magnetic field produced by superconducting magnet) clearly delineated low intensity area in the right lateral aspect of the medulla oblongata. This is the first case of Wallenberg's syndrome whose anatomical lesion was demonstrated by MRI. (author)

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

Science.gov (United States)

Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera

2009-01-01

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype–phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects. PMID:18854871

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

Science.gov (United States)

Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera

2009-04-01

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)). PTPN11 mutations are the only genetic abnormalities reported so far in some patients with NL/MGCLS and in one individual with LEOPARD syndrome and MGCL. In a cohort of 75 NS patients previously tested negative for mutations in PTPN11 and KRAS, we detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signaling in syndromic MGCL, we analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL. This study demonstrates that MGCL may occur in NS and CFCS with various underlying genetic alterations and no obvious genotype-phenotype correlation. This suggests that dysregulation of the RAS-MAPK pathway represents the common and basic molecular event predisposing to giant cell lesion formation in patients with NS and CFCS rather than specific mutation effects.

Frontal lobe syndrome from bilateral globus pallidus lesions a complication of Wernicke's encephalopathy

OpenAIRE

Arruda, Walter Oleschko

1991-01-01

A 38 year-old man developed the classical clinical picture of Wernicke's encephalopathy as a consequence of prolonged total parenteral nutrition. As a late complication he developed a frontal lobe syndrome. Bilateral globus pallidus lesions were observed in the CT-scan examination. Some aspects related to the cortical syndromes caused by subcortical lesions are discussed. Relata-se um caso de encefalopatia de Wernicke que ocorreu em paciente masculino de 38 anos, como complicação de alimen...

Giant cell lesion of the jaw as a presenting feature of Noonan syndrome.

Science.gov (United States)

Sinnott, Bridget P; Patel, Maya

2018-05-30

This is a case of a 20-year-old woman who presented with a left jaw mass which was resected and found to be a giant cell granuloma of the mandible. Her history and physical examination were suggestive for Noonan syndrome which was confirmed with genetic testing and the finding of a PTPN11 gene mutation which has rarely been associated with giant cell lesions of the jaw. Given her particular genetic mutation and the presence of a giant cell lesion, we present a case of Noonan-like/multiple giant cell lesion syndrome. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Lesion correlates of patholinguistic profiles in chronic aphasia: comparisons of syndrome-, modality- and symptom-level assessment.

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Henseler, Ilona; Regenbrecht, Frank; Obrig, Hellmuth

2014-03-01

One way to investigate the neuronal underpinnings of language competence is to correlate patholinguistic profiles of aphasic patients to corresponding lesion sites. Constituting the beginnings of aphasiology and neurolinguistics over a century ago, this approach has been revived and refined in the past decade by statistical approaches mapping continuous variables (providing metrics that are not simply categorical) on voxel-wise lesion information (voxel-based lesion-symptom mapping). Here we investigate whether and how voxel-based lesion-symptom mapping allows us to delineate specific lesion patterns for differentially fine-grained clinical classifications. The latter encompass 'classical' syndrome-based approaches (e.g. Broca's aphasia), more symptom-oriented descriptions (e.g. agrammatism) and further refinement to linguistic sub-functions (e.g. lexico-semantic deficits for inanimate versus animate items). From a large database of patients treated for aphasia of different aetiologies (n = 1167) a carefully selected group of 102 first ever ischaemic stroke patients with chronic aphasia (∅ 12 months) were included in a VLSM analysis. Specifically, we investigated how performance in the Aachen Aphasia Test-the standard clinical test battery for chronic aphasia in German-relates to distinct brain lesions. The Aachen Aphasia Test evaluates aphasia on different levels: a non-parametric discriminant procedure yields probabilities for the allocation to one of the four 'standard' syndromes (Broca, Wernicke, global and amnestic aphasia), whereas standardized subtests target linguistic modalities (e.g. repetition), or even more specific symptoms (e.g. phoneme repetition). Because some subtests of the Aachen Aphasia Test (e.g. for the linguistic level of lexico-semantics) rely on rather coarse and heterogeneous test items we complemented the analysis with a number of more detailed clinically used tests in selected mostly mildly affected subgroups of patients. Our results

Tolosa-Hunt syndrome. A CT demonstration of a high-density lesion

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Hirata, Kazuhiro; Muramoto, Masato; Chiba, Yasuhiro; Yagishita, Saburo

1987-08-01

CT scan studies of the Tolosa-Hunt syndrome have seldom been reported; positive abnormal findings are especially rare. A 36-year-old man suffered from steady, boring pain behind the left eye for one year. On admission he complained of diplopia on the right lateral gaze and hypesthesea of the first and second divisions of the left trigeminal nerve. A CT scan demonstrated a slightly high-density lesion, which was homogeneously enhanced, in the left cavernous portion and the superior orbital fissure. Carotid angiograms demonstrated no abnormal finding, and the cavernous sinus venography revealed no filling of the left cavernous sinus. A left front-temporal craniotomy was performed for the purpose of biopsy. A histological examination revealed non-specific focal granulomatous pachymeningitis. He responded dramatically to systemic steroid therapy, and he became pain-free by the fourth post-operative day. This diagnosis of the Tolosa-Hunt syndrome was confirmed both clinically and etiologically; however, the CT scan after the treatment demonstrated no definitive change in the lesion. The CT scan is useful for the diagnosis of this syndrome. Considering the stage of the illness, it is possible that the high-resolution CT scan can demonstrate this lesion with an advanced technique. The clinical diagnosis is almost easy, and surgical exploration is not always necessary if there is a prompt remission upon systemic steroid therapy. However, this syndrome should be differentiated from the other causes by appropriate examinations. Some cases similar to ours, especially suspected tumors, need surgical exploration because these angiographic findings are not specific.

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Science.gov (United States)

Beneteau, Claire; Cavé, Hélène; Moncla, Anne; Dorison, Nathalie; Munnich, Arnold; Verloes, Alain; Leheup, Bruno

2009-10-01

We report five cases of multiple giant cell lesions in patients with typical Noonan syndrome. Such association has frequently been referred to as Noonan-like/multiple giant cell (NL/MGCL) syndrome before the molecular definition of Noonan syndrome. Two patients show mutations in PTPN11 (p.Tyr62Asp and p.Asn308Asp) and three in SOS1 (p.Arg552Ser and p.Arg552Thr). The latter are the first SOS1 mutations reported outside PTPN11 in NL/MGCL syndrome. MGCL lesions were observed in jaws ('cherubism') and joints ('pigmented villonodular synovitis'). We show through those patients that both types of MGCL are not PTPN11-specific, but rather represent a low penetrant (or perhaps overlooked) complication of the dysregulated RAS/MAPK signaling pathway. We recommend discarding NL/MGCL syndrome from the nosology, as this presentation is neither gene-nor allele-specific of Noonan syndrome; these patients should be described as Noonan syndrome with MGCL (of the mandible, the long bone...). The term cherubism should be used only when multiple giant cell lesions occur without any other clinical and molecular evidence of Noonan syndrome, with or without mutations of the SH3BP2 gene.

CT and MRI findings of 144 patients with West syndrome. Characterization of the cerebral lesion and its topography

International Nuclear Information System (INIS)

Hamano, Shin-ichiro; Tanaka, Manabu; Mochizuki, Mika; Sugiyama, Nobuyoshi; Nara, Takahiro; Oguma, Eiji; Eto, Yoshikatsu

2002-01-01

In West syndrome, although classified as a generalized epilepsy, there are some patients reported to have became seizure-free and have good outcomes in the developmental aspect after resections of localized lesions. We reviewed computed tomography and magnetic resonance imaging of 144 patients with West syndrome and classified them into four categories depending on the distribution of lesion: normal group, diffuse group, disseminated group, localized group. Thirty-three patients belong to the normal group after having reviewed images from computed tomography and magnetic resonance imaging. The diffuse group consisted of 83 patients presenting morphologic abnormalities such as, diffuse cerebral atrophy, periventricular leukomalesia or polycystic encephalomalesia; the disseminated group included 17 patients having a diagnosis of tuberoius sclerosis, multiple cortical dysplasia or multiple cortical heterotopias. The lesions of all eleven patients with localized cerebral lesions involved the temporal and/or occipital lobes. Nine of the eleven patients with localized cerebral lesions had the lesions on the right side. These results suggest that the specificity of lesion topography of temporo-occipital regions and the right-side in West syndrome will have a close correlation with normal brain maturation, from the viewpoint of development of myelination and cerebral blood flow, and related with the genesis of West syndrome. (author)

CT and MRI findings of 144 patients with West syndrome. Characterization of the cerebral lesion and its topography

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Hamano, Shin-ichiro; Tanaka, Manabu; Mochizuki, Mika; Sugiyama, Nobuyoshi; Nara, Takahiro; Oguma, Eiji [Saitama Children' s Medical Center, Iwatsuki (Japan); Eto, Yoshikatsu [Jikei Univ., Tokyo (Japan). School of Medicine

2002-09-01

In West syndrome, although classified as a generalized epilepsy, there are some patients reported to have became seizure-free and have good outcomes in the developmental aspect after resections of localized lesions. We reviewed computed tomography and magnetic resonance imaging of 144 patients with West syndrome and classified them into four categories depending on the distribution of lesion: normal group, diffuse group, disseminated group, localized group. Thirty-three patients belong to the normal group after having reviewed images from computed tomography and magnetic resonance imaging. The diffuse group consisted of 83 patients presenting morphologic abnormalities such as, diffuse cerebral atrophy, periventricular leukomalesia or polycystic encephalomalesia; the disseminated group included 17 patients having a diagnosis of tuberoius sclerosis, multiple cortical dysplasia or multiple cortical heterotopias. The lesions of all eleven patients with localized cerebral lesions involved the temporal and/or occipital lobes. Nine of the eleven patients with localized cerebral lesions had the lesions on the right side. These results suggest that the specificity of lesion topography of temporo-occipital regions and the right-side in West syndrome will have a close correlation with normal brain maturation, from the viewpoint of development of myelination and cerebral blood flow, and related with the genesis of West syndrome. (author)

Prevalence and Characteristics of Nonblanching, Palpable Skin Lesions With a Linear Pattern in Children With Henoch-Schönlein Syndrome.

Science.gov (United States)

Milani, Gregorio P; Lava, Sebastiano A G; Ramelli, Vera; Bianchetti, Mario G

2017-11-01

Linear nonblanching skin lesions are thought to occur very rarely in patients with Henoch-Schönlein syndrome. To examine the prevalence and characteristics of linear nonblanching skin lesions in children with Henoch-Schönlein syndrome. A prospective case series was conducted at the ambulatory practice of a hospitalist between January 1, 2010, and December 31, 2015, among 31 consecutive children with Henoch-Schönlein syndrome. Thirty-one consecutive children affected with Henoch-Schönlein syndrome who were from 3.0 to 12.0 years of age (median age, 6.2 years). Children with Henoch-Schönlein syndrome underwent a careful, structured skin examination established in advance with emphasis on the presence of palpable lesions with a linear pattern. Among the 31 children in the study (12 girls and 19 boys; median age, 6.2 years [range, 3.0-12.0 years]), 8 (26%) had linear lesions on the legs, groin, waistline, wrists, or forearms. Patients with or without linear lesions did not differ significantly with respect to sex, age, and cutaneous, abdominal, articular, or renal involvement. This study illustrates the prevalence and characteristics of linear skin lesions in patients with Henoch-Schönlein syndrome. Patients with symptoms suggestive of this vasculitis should be evaluated for the presence of nonblanching, palpable lesions with a linear pattern.

Transient Splenial Lesion of Corpus Callosum Associated with Antiepileptic Drug: Conventional and Diffusion-weighted Magnetic Resonance Images

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Hakyemez, B.; Erdogan, C.; Yildirim, N.; Gokalp, G.; Parlak, M. [Uludag Univ. Medical School, Bursa (Turkey). Dept. of Radiology

2005-11-01

Transient focal lesions of splenium of corpus callosum can be seen as a component of many central nervous system diseases, including antiepileptic drug toxicity. The conventional magnetic resonance (MR) findings of the disease are characteristic and include ovoid lesions with high signal intensity at T2-weighted MRI. Limited information exists about the diffusion-weighted MRI characteristics of these lesions vanishing completely after a period of time. We examined the conventional, FLAIR, and diffusion-weighted MR images of a patient complaining of depressive mood and anxiety disorder after 1 year receiving antiepileptic medication.

Cortical venous disease severity in MELAS syndrome correlates with brain lesion development.

Science.gov (United States)

Whitehead, M T; Wien, M; Lee, B; Bass, N; Gropman, A

2017-08-01

MELAS syndrome is a mitochondrial disorder typified by recurrent stroke-like episodes, seizures, and progressive brain injury. Abnormal mitochondria have been found in arterial walls implicating a vasculogenic etiology. We have observed abnormal cortical vein T2/FLAIR signal in MELAS patients, potentially representing wall thickening and sluggish flow. We sought to examine the relationship of hyperintense veins and brain lesions in MELAS. Imaging databases at two children's hospitals were searched for brain MRIs from MELAS patients. Artifact, sedated exams, and lack of 2D-T2/FLAIR sequences were exclusion criteria. Each exam was assigned a venous score based on number of T2/FLAIR hyperintense veins: 1 = 20. Cumulative brain lesions and venous score in MELAS and aged-matched normal exams were compared by Mann-Whitney test. A total of 106 exams from 14 unique MELAS patients (mean 16 ± 3 years) and 30 exams from normal aged-matched patients (mean 15 ± 3 years) were evaluated. Median venous score between MELAS and control patients significantly differed (3 versus 1; p MELAS group, venous score correlated with presence (median = 3) or absence (median = 1) of cumulative brain lesions. In all 8 MELAS patients who developed lesions, venous hyperintensity was present prior to, during, and after lesion onset. Venous score did not correlate with brain lesion acuity. Abnormal venous signal correlates with cumulative brain lesion severity in MELAS syndrome. Cortical venous stenosis, congestion, and venous ischemia may be mechanisms of brain injury. Identification of cortical venous pathology may aid in diagnosis and could be predictive of lesion development.

Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome presenting a primary sternal lesion

International Nuclear Information System (INIS)

Serrano, Carlos A.; Leani, Marcelo J.; Rieu, Juan; Serrano, Santiago O.; Dettano, Veronica

2003-01-01

SAPHO syndrome-acronym for synovitis, acne, pustules, hyperostosis and osteitis, is a nosological entity including multiple affections with cutaneous and osteoarticular involvement. We report the case of a 59 years old female patient that consulted due to an acute sternal pain. After some months the patient showed a palm-plantar pustular exanthem, acne and fever. SAPHO syndrome was diagnosed based on a CT, an osseous gammagraphy and a biopsy of cutaneous lesions. The current actual tendency is to consider the SAPHO syndrome as a seronegative arthropathy with a similar pathophysiology to Reiter's syndrome. (author)

Regression of stroke-like lesions in MELAS-syndrome after seizure control.

Science.gov (United States)

Finsterer, Josef; Barton, Peter

2010-12-01

There are some indications that seizure activity promotes the development of stroke-like episodes, or vice versa, in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome or other syndromic mitochondrial disorders. A 41-year-old Caucasian female with MELAS syndrome, presenting with short stature, microcytic anaemia, increased blood-sedimentation rate, myopathy, hyper-gammaglobulinaemia, an iron-metabolism defect, migraine-like headaches, and stroke-like episodes, developed complex partial and generalised seizures at age 32 years. Valproic acid was ineffective but after switching to lamotrigine and lorazepam, she became seizure-free for five years and stroke-like episodes did not recur. Cerebral MRI initially showed enhanced gyral thickening and a non-enhanced T2-hyperintensity over the left parieto-temporo-occipital white matter and cortex and enhanced caudate heads. After two years without seizures, the non-enhanced hyperintense parieto-temporo-occipital lesion had disappeared, being attributed to consequent seizure control. The caudate heads, however, remained hyperintense throughout the observational period. This case indicates that adequate seizure control in a patient with MELAS syndrome may prevent the recurrence of stroke-like episodes and may result in the disappearance of stroke-like lesions on MRI.

Frequency of Cushing's syndrome due to ACTH-secreting adrenal medullary lesions: a retrospective study over 10 years from a single center.

Science.gov (United States)

Falhammar, Henrik; Calissendorff, Jan; Höybye, Charlotte

2017-01-01

Cushing's syndrome due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions has occasionally been described. We retrospectively reviewed all 164 cases of Cushing's syndrome and 77 cases of pheochromocytomas during 10 years. Of all cases with Cushing's syndrome, only two cases (1.2 %) were due to ectopic adrenocorticotropic hormone production from adrenal medullary lesions (one case of pheochromocytoma and one case of adrenal medullary hyperplasia). Of all pheochromocytomas only the above-mentioned case (1.3 %) also gave rise to an ectopic adrenocorticotropic hormone syndrome. The clinical presentation of adrenocorticotropic hormone-secreting pheochromocytoma and adrenal medullary hyperplasia can be anything from mild to dramatic. These are rare conditions important to bear in mind in the workup of a patient with Cushing's syndrome or with pheochromocytoma. The identification of ectopic adrenocorticotropic hormone secretion from adrenal medullary lesions can be life-saving.

Location of brain lesions predicts conversion of clinically isolated syndromes to multiple sclerosis

DEFF Research Database (Denmark)

Giorgio, Antonio; Battaglini, Marco; Rocca, Maria Assunta

2013-01-01

OBJECTIVES: To assess in a large population of patients with clinically isolated syndrome (CIS) the relevance of brain lesion location and frequency in predicting 1-year conversion to multiple sclerosis (MS). METHODS: In this multicenter, retrospective study, clinical and MRI data at onset......: In CIS patients with hemispheric, multifocal, and brainstem/cerebellar onset, lesion probability map clusters were seen in clinically eloquent brain regions. Significant lesion clusters were not found in CIS patients with optic nerve and spinal cord onset. At 1 year, clinically definite MS developed...... in the converting group in projection, association, and commissural WM tracts, with larger clusters being in the corpus callosum, corona radiata, and cingulum. CONCLUSIONS: Higher frequency of lesion occurrence in clinically eloquent WM tracts can characterize CIS subjects with different types of onset...

Goltz syndrome: A newborn with ectrodactyly and skin lesions

Directory of Open Access Journals (Sweden)

Shatanik Sarkar

2015-01-01

Full Text Available Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus. Majority of the cases are sporadic, mainly due to postzygotic somatic mutations. The clinical spectrum includes characteristic cutaneous manifestations, multiple skeletal anomalies, and involvement of the eyes, hair, nails, kidneys, and so on. Considerable variability is noted in the clinical expression of the disease probably due to genomic mosaicism. Around 300 cases of Goltz syndrome have been reported in the literature. Here, we report such a case with characteristic skin lesions, multiple bony defects, distinctive facial features, coloboma of iris, and bilateral hydronephrosis. The diagnosis was evident immediately after birth due to the characteristic clinical picture of the baby.

Renoscintigraphy in assessment of renal lesions in children after hemolytic-uremic syndrome

International Nuclear Information System (INIS)

Lass, P.; Marczak, E.; Romanowicz, G.; and others.

1994-01-01

The aim of the study was to assess the role of renoscintigraphic examination in monitoring of patients after the hemolytic-uremic syndrome. 27 children mean 9 years the hemolytic-uremic syndrome underwent the complex of biochemical, ultrasound and renoscintigraphic examinations. The abnormal renoscintigraphic was seen in 85.1% of children, while the alternative test described the renal lesion in 29-66%. Renoscintigraphic examination seems to be the most sensitive in monitoring of remote sequel in patients after HUS. Those patients should undergone long-lasting observation, for the sake of possibility of development of renal insufficiency. (author). 14 refs

Proton spectroscopy in the narcoleptic syndrome. Is there evidence of a brainstem lesion?

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Ellis, C M; Simmons, A; Lemmens, G; Williams, S C; Parkes, J D

1998-02-01

There is controversy regarding the relationship of structural or biochemical brainstem lesions to "idiopathic" narcolepsy. Most cases of the narcoleptic syndrome are considered to be idiopathic because no structural lesion is detectable, although some cases of secondary narcolepsy are known to be associated with no structural brainstem lesions. Using proton spectroscopy, we determined levels of ventral pontine metabolite pools in 12 normal subjects and 12 subjects with idiopathic narcolepsy. REM sleep is generated in ventral pontine areas. Proton spectroscopy was used to study levels of N-acetyl aspartate (NAA) as a marker of cell mass, creatine and phosphocreatine (Cr + PCr), and choline (Cho). The intensity of the peaks, as determined by the area under the peak (AUP), was measured. The AUP correlates with the quantity of chemical present. In this study, the ratios of NAA to Cr + PCr were similar in normal subjects and in narcoleptic subjects with idiopathic narcolepsy. No differences in measured metabolic ratio were observed in subjects who slept during the scan procedure compared with those who remained awake. Subjects with "symptomatic" narcolepsy accompanied by an obvious structural brain lesion were not studied. Proton spectroscopy of the brain initiates a new kind of neurochemistry, allowing the noninvasive study of metabolic pools in the living human brain without the use of any kind of tracer or radioactive molecule. In this study, there was no evidence of cell loss in the ventral pontine areas of subjects with the narcoleptic syndrome.

Skin lesions simulating blue toe syndrome caused by prolonged contact with a millipede

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Augusto Scardazan Heeren Neto

2014-04-01

Full Text Available Venomous animals are those that, by means of a hunting and defense mechanism, are able to inject their prey with a toxic substance produced in their bodies, directly from specialized glands (e.g., tooth, sting, spur through which the poison passes. Millipedes are poisonous animals; they can be harmful to humans, and their effects usually manifest as erythematous, purpuric, and cyanotic lesions; local pain; and paresthesia. Here, we report a case of skin contact with a millipede for 6h resulting in skin lesions similar to blue toe syndrome.

Recent activation of the plaque immune response in coronary lesions underlying acute coronary syndromes

NARCIS (Netherlands)

van der Wal, A. C.; Piek, J. J.; de Boer, O. J.; Koch, K. T.; Teeling, P.; van der Loos, C. M.; Becker, A. E.

1998-01-01

OBJECTIVE: To discriminate between chronic inflammation and acute activation of the plaque immune response in culprit lesions of patients with acute coronary syndromes. DESIGN: Retrospective study. SETTING: Tertiary referral centre. SUBJECTS: 71 patients having coronary atherectomy were classified

Boomerang sign: Clinical significance of transient lesion in splenium of corpus callosum.

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Malhotra, Hardeep Singh; Garg, Ravindra Kumar; Vidhate, Mukund R; Sharma, Pawan Kumar

2012-04-01

Transient signal abnormality in the splenium of corpus callosum on magnetic resonance imaging (MRI) is occasionally encountered in clinical practice. It has been reported in various clinical conditions apart from patients with epilepsy. We describe 4 patients with different etiologies presenting with signal changes in the splenium of corpus callosum. They were diagnosed as having progressive myoclonic epilepsy (case 1), localization-related epilepsy (case 2), hemicrania continua (case 3), and postinfectious parkinsonism (case 4). While three patients had complete involvement of the splenium on diffusion-weighted image ("boomerang sign"), the patient having hemicrania continua showed semilunar involvement ("mini-boomerang") on T2-weighted and FLAIR image. All the cases had noncontiguous involvement of the splenium. We herein, discuss these cases with transient splenial involvement and stress that such patients do not need aggressive diagnostic and therapeutic interventions. An attempt has been made to review the literature regarding the pathophysiology, etiology, and outcome of such lesions.

Boomerang sign: Clinical significance of transient lesion in splenium of corpus callosum

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Hardeep Singh Malhotra

2012-01-01

Full Text Available Transient signal abnormality in the splenium of corpus callosum on magnetic resonance imaging (MRI is occasionally encountered in clinical practice. It has been reported in various clinical conditions apart from patients with epilepsy. We describe 4 patients with different etiologies presenting with signal changes in the splenium of corpus callosum. They were diagnosed as having progressive myoclonic epilepsy (case 1, localization-related epilepsy (case 2, hemicrania continua (case 3, and postinfectious parkinsonism (case 4. While three patients had complete involvement of the splenium on diffusion-weighted image ("boomerang sign", the patient having hemicrania continua showed semilunar involvement ("mini-boomerang" on T2-weighted and FLAIR image. All the cases had noncontiguous involvement of the splenium. We herein, discuss these cases with transient splenial involvement and stress that such patients do not need aggressive diagnostic and therapeutic interventions. An attempt has been made to review the literature regarding the pathophysiology, etiology, and outcome of such lesions.

Inflammatory aortic arch syndrome: contrast-enhanced, three-dimensional MR - angiography in stenotic lesions

International Nuclear Information System (INIS)

Both, M.; Mueller-Huelsbeck, S.; Biederer, J.; Heller, M.; Reuter, M.

2004-01-01

Purpose: To determine the value of contrast-enhanced, three-dimensional MR angiography for the evaluation of stenotic and occlusive vascular lesions in inflammatory aortic arch syndrome. Materials and Methods: 14 patients with inflammatory aortic arch syndrome (giant cell arteritis: n = 8, Takayasu arteritis: n = 4, ankylosing spondylitis: n = 1 sarcoidosis: n = 1) underwent MR angiography of the aortic arch and the supra-aortic vessels (n = 15,2 patients were examined twice) and of the abdominal aorta (n = 2). MRA was performed using a 3D-FLASH sequence (TR/TE 4.6/1.8 ms, flip angle 30 ) on a 1.5T system. MRA imaging was compared with the findings of DSA, which served as gold standard. Results: In a total of 467 examined vascular territories, DSA revealed 50 stenoses and 35 occlusions. All lesions were detected by MRA. In 23 segments, the degree of stenosis was overestimated by MRA. Sensitivity and specificity of MRA were 100% and 94,3%, positive and negative predictive values were 73.6 and 100%, and the accuracy was 95,1%. Conclusions: Despite a tendency to overestimate stenoses, contrast-enhanced three-dimensional MR angiography is a valid, non-invasive technique in the assessment of inflammatory aortic arch syndrome. (orig.) [de

Sequential MR imaging (with diffusion-weighted imaging changes in metronidazole-induced encephalopathy

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Rupinder Singh

2017-01-01

Full Text Available Metronidazole-induced neuro-toxicity, though rare, is known. A characteristic spatial distribution of lesions in cerebellar dentate nuclei and dorsal pons is known. However, temporal progression of lesions on magnetic resonance imaging (MRI has not been described previously. We describe two such cases which presented initially with splenial hyperintesity and showed progression to characterstic lesions. Both cases improved with stoppage of metronidazole.

Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines

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van den Berg, Henk; Schreuder, Willem Hans; Jongmans, Marjolijn; van Bommel-Slee, Danielle; Witsenburg, Bart; de Lange, Jan

2016-01-01

A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a

Korsakoff syndrome from retrochiasmatic suprasellar lesions: rapid reversal after relief of cerebral compression in 4 cases.

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Savastano, Luis E; Hollon, Todd C; Barkan, Ariel L; Sullivan, Stephen E

2018-06-01

Korsakoff syndrome is a chronic memory disorder caused by a severe deficiency of thiamine that is most commonly observed in alcoholics. However, some have proposed that focal structural lesions disrupting memory circuits-in particular, the mammillary bodies, the mammillothalamic tract, and the anterior thalamus-can give rise to this amnestic syndrome. Here, the authors present 4 patients with reversible Korsakoff syndromes caused by suprasellar retrochiasmatic lesions compressing the mammillary bodies and adjacent caudal hypothalamic structures. Three of the patients were found to have large pituitary macroadenomas in their workup for memory deficiency and cognitive decline with minimal visual symptoms. These tumors extended superiorly into the suprasellar region in a retrochiasmatic position and caused significant mass effect in the bilateral mammillary bodies in the base of the brain. These 3 patients had complete and rapid resolution of amnestic problems shortly after initiation of treatment, consisting of resection in 1 case of nonfunctioning pituitary adenoma or cabergoline therapy in 2 cases of prolactinoma. The fourth patient presented with bizarre and hostile behavior along with significant memory deficits and was found to have a large cystic craniopharyngioma filling the third ventricle and compressing the midline diencephalic structures. This patient underwent cyst fenestration and tumor debulking, with a rapid improvement in his mental status. The rapid and dramatic memory improvement observed in all of these cases is probably due to a reduction in the pressure imposed by the lesions on structures contiguous to the third ventricle, rather than a direct destructive effect of the tumor, and highlights the essential role of the caudal diencephalic structures-mainly the mammillary bodies-in memory function. In summary, large pituitary lesions with suprasellar retrochiasmatic extension and third ventricular craniopharyngiomas can cause severe Korsakoff

Prevalence of cystic macular lesions in patients with Usher II syndrome.

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Walia, S; Fishman, G A; Hajali, M

2009-05-01

To evaluate the prevalence of cystic macular lesions in patients with Usher II syndrome. All Usher type II patients seen in the inherited eye disease clinic at the University of Illinois at Chicago between January 2002 and December 2007 were included (n=76). Each participating patient underwent a detailed clinical examination, including best-corrected visual acuity, slit-lamp biomicroscopy and dilated fundus examination. The presence of cystoid lesions was determined by optical coherence tomography (OCT), fundus fluorescein angiogram (FFA), fundus photographs and/or clinical examination. A cystic-appearing macular change was observed in at least one eye in 19 out of the 76 patients (25%), 13 on the basis of OCT, five using FFA (two solely with the use of FFA and three based on clinical notes and FFA findings) and one based solely on clinical notes. Of the 18 patients with CME, determined by OCT or FFA, five (27.8%) showed either a funduscopically normal-appearing macula (n=4) or an atrophic appearing macular change (n=1). One-fourth of our total cohort of Usher II patients had cystic macular lesions. Moreover, a funduscopically normal-appearing macula was observed in 22% (n=4) of our 18 patients with cystic-appearing macular lesions on OCT and/or FFA testing. On the basis of the reasonably high prevalence of cystic macular lesions in our cohort, it would seem prudent to evaluate Usher II patients for the presence of cystoid macular oedema.

Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face

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Ayumi Korekawa

2015-07-01

Full Text Available An 81-year-old Japanese man presented with dark blue papules and nodules on his face. There were multiple soft papules and nodules, dark blue in color, compressive, and ranging in size from 2 to 10 mm. A few similar lesions were seen on the patient's right dorsal second toe and right buccal mucosa. There were no skin lesions on his trunk and upper limbs. The patient's past history did not include gastrointestinal bleeding or anemia. Histopathological examination showed dilated vascular spaces lined by the normal epithelium extending beneath the dermis and into the subcutaneous fat. Endoscopy of the gastrointestinal tract to check for colon involvement was not performed. X-ray images of the limbs revealed no abnormalities in the bones or joints. Laboratory investigations did not show anemia. Although we failed to confirm a diagnosis by endoscopy, the skin lesions, histopathological findings, lack of abnormal X-ray findings, and the presence of oral lesions as a part of gastrointestinal tract guided the diagnosis of blue rubber bleb nevus syndrome (BRBNS. Skin lesions of BRBNS occur predominantly on the trunk and upper limbs. However, the present case showed multiple skin lesions predominantly on the face. Therefore, it is important for clinicians to know about a possible atypical distribution of skin lesions in BRBNS.

Juxtacortical Lesions and Cortical Thinning in Multiple Sclerosis.

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Pareto, D; Sastre-Garriga, J; Auger, C; Vives-Gilabert, Y; Delgado, J; Tintoré, M; Montalban, X; Rovira, A

2015-12-01

The role of juxtacortical lesions in brain volume loss in multiple sclerosis has not been fully clarified. The aim of this study was to explore the role of juxtacortical lesions on cortical atrophy and to investigate whether the presence of juxtacortical lesions is related to local cortical thinning in the early stages of MS. A total of 131 patients with clinically isolated syndrome or with relapsing-remitting MS were scanned on a 3T system. Patients with clinically isolated syndrome were classified into 3 groups based on the presence and topography of brain lesions: no lesions (n = 24), only non-juxtacortical lesions (n = 33), and juxtacortical lesions and non-juxtacortical lesions (n = 34). Patients with relapsing-remitting MS were classified into 2 groups: only non-juxtacortical lesions (n = 10) and with non-juxtacortical lesions and juxtacortical lesions (n = 30). A juxtacortical lesion probability map was generated, and cortical thickness was measured by using FreeSurfer. Juxtacortical lesion volume in relapsing-remitting MS was double that of patients with clinically isolated syndrome. The insula showed the highest density of juxtacortical lesions, followed by the temporal, parietal, frontal, and occipital lobes. Patients with relapsing-remitting MS with juxtacortical lesions showed significantly thinner cortices overall and in the parietal and temporal lobes compared with those with clinically isolated syndrome with normal brain MR imaging. The volume of subcortical structures (thalamus, pallidum, putamen, and accumbens) was significantly decreased in relapsing-remitting MS with juxtacortical lesions compared with clinically isolated syndrome with normal brain MR imaging. The spatial distribution of juxtacortical lesions was not found to overlap with areas of cortical thinning. Cortical thinning and subcortical gray matter volume loss in patients with a clinically isolated syndrome or relapsing-remitting MS was related to the presence of juxtacortical

[Diverse histological lesions in a patient with antiphospholipid syndrome (APS)].

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Salvatore, Ermanno; Luciani, Remo; Di Palma, Annamaria; Aversano, Arturo; Stellato, Davide; Liuzzi, Marco; Iele, Emilio; Martignetti, Vinicio; Spagnuolo, Enrico; Morrone, Luigi

2011-01-01

Antiphospholipid syndrome (APS) is a rare autoimmune disorder. It can be secondary to systemic lupus erythematosus (SLE) or occur in the absence of autoimmune disease. The hallmark of this so-called primary APS is the presence of circulating antiphospholipid antibodies. Renal involvement in primary APS is caused by thrombosis within the renal vasculature. Recently, nonthrombotic glomerulonephritic renal lesions have been described in primary APS as a new histological entity. We here report a patient with primary APS in whom both lesion types were present. A 58-year-old Caucasian man with no significant past medical history presented to our nephrology unit with diffuse edema. Urinalysis showed proteinuria exceeding 400 mg/dL. The autoantibody panel (p-ANCA, c- ANCA, anti-nucleus, anti-DS-DNA) was negative except for anticardiolipin antibodies, which tested positive in two different samples. The diagnostic workup included a kidney biopsy that revealed thrombotic lesions compatible with primary APS and a typical pattern of focal segmental glomerulosclerosis. The kidney is a major target in APS but the exact mechanism underlying the pathogenesis of APS nephropathy has been poorly recognized. The use of kidney biopsy is a fundamental diagnostic tool in this setting, with possible implications also from a prognostic and therapeutic viewpoint.

A case of the corpus callosum and alien hand syndrome from a discrete paracallosal lesion.

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Faber, Raymond; Azad, Alvi; Reinsvold, Richard

2010-08-01

Here we present a patient with an isolated paracallosal brain lesion who exhibited behavioral changes associated with the corpus callosum syndrome (CCS) including features of the alien hand syndrome (AHS). The CCS is also known as the split-brain syndrome, the syndrome of hemisphere disconnection, the syndrome of brain bisection and the syndrome of the cerebral commissures. Because most reported cases of CCS were caused by tumors which extended beyond the corpus callosum (CC) and did not always induce a complete disconnection, there was much controversy about the role of the CC and the existence of a specific CCS. Aside from surgically based cases, the full complement of the CCS is infrequently clinically encountered. The patient described has a classic CCS from natural causes. This case report is unique in exhibiting a complete CCS with AHS secondary to an ischemic event affecting the left pericallosal region. To our knowledge this is the first case report of such a combination.

What nephrolopathologists need to know about antiphospholipid syndrome-associated nephropathy: Is it time for formulating a classification for renal morphologic lesions?

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Mubarak, Muhammed; Nasri, Hamid

2014-01-01

Antiphospholipid syndrome (APS) is a systemic autoimmune disorder which commonly affects kidneys. Directory of Open Access Journals (DOAJ), Google Scholar, PubMed (NLM), LISTA (EBSCO) and Web of Science have been searched. There is sufficient epidemiological, clinical and histopathological evidence to show that antiphospholipid syndrome is a distinctive lesion caused by antiphospholipid antibodies in patients with different forms of antiphospholipid syndrome. It is now time to devise a classification for an accurate diagnosis and prognostication of the disease. Now that the morphological lesions of APSN are sufficiently well characterized, it is prime time to devise a classification which is of diagnostic and prognostic utility in this disease.

A new T2 lesion in a patient with the clinically isolated syndrome does not necessarily imply a conversion to multiple sclerosis.

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Capone, Fioravante; Puthenparampil, Marco; Mallio, Carlo Augusto; Celia, Alessandra Ida; Florio, Lucia; Gallo, Paolo; Di Lazzaro, Vincenzo

2018-01-01

In the follow-up of patients with the clinically isolated syndrome, both clinical and MRI findings should be carefully evaluated by clinicians to avoid misinterpretation and inappropriate diagnosis of multiple sclerosis. We describe a case of a patient with a previous diagnosis of clinically isolated syndrome who developed a new asymptomatic brain lesion at the MRI follow-up. The careful evaluation of clinical history and radiological findings allowed the correct diagnosis of cocaine-associated ischemic stroke. Our case highlights that, in patients with the clinically isolated syndrome, the appearance of a new lesion on MRI does not necessarily imply a conversion to multiple sclerosis. Among "better explanations", ischemic lesions are of relevance and, in patients without typical risk factors for stroke, rarer causes such as cocaine assumption should be considered. Copyright © 2017 Elsevier B.V. All rights reserved.

Richner-Hanhart Syndrome (Tyrosinemia Type II A Case Report of Delay Diagnosis with Hyperkeratotic Lesions of Palmes and Soles

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Z. Alian

2014-10-01

Full Text Available Introduction: Richner-Hanhart syndrome (tyrosinemia type II is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine ami-notransferase enzyme. Case Report: We report a 7-year-old female patient with complaints of hyperkeratosis lesions of palms and soles which started 3 years ago. Chromatography of serum amino acids showed a tyrosine level of 120micromole/L (normal range: 22-87. She had normal ophthalmologic examination and mild mental retardation was detected. One month after the tyrosine- and phenylalanine-restricted diet, her tyrosine level dropped to 42 micromol/L level, her keratotic lesions subsided, and a symptomatic relief in learning was achieved. Conclusion: Tyrosinemia type II should be suspected in patients demonstrating dermatologic signs, especially palmoplantar keratosis, associated with bilateral pseudodendritic corneal lesions unresponsive to antiviral therapy and mild to moderate mental retardation, although our patient without ophthalmic lesions is a very rare case of this syndrome. (Sci J Hamadan Univ Med Sci 2014; 21 (3: 251-254

Scalp Lesions in a Pediatric Patient with Hyper IgM Syndrome: Clinical and Histologic Mimicry of Cryptococcus neoformans Infection.

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Acker, Karen P; Fetch, Audrey; Schnell, Stephanie A; Hammond, Jennifer; Herrera, Christina; Niedt, George; Ratner, Adam J; Lauren, Christine T

2018-01-01

We report a case of cutaneous cryptococcosis due to Cryptococcus neoformans in a pediatric patient with hyper IgM syndrome with scalp lesions that resembled tinea capitis on gross examination and mimicked juvenile xanthogranuloma on histologic examination. This case highlights the importance of considering cutaneous cryptococcosis in patients with hyper IgM syndrome. Copyright © 2017 Elsevier Inc. All rights reserved.

The Histological and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome

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Torrelo, Antonio; Colmenero, Isabel; Requena, Luis; Paller, Amy S.; Ramot, Yuval; Lee, Chyi-Chia Richard; Vera, Angel; Zlotogorski, Abraham; Goldbach-Mansky, Raphaela; Kutzner, Heinz

2015-01-01

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly characterized autoinflammatory disorder, caused by mutations in PSMB8. It is characterized by early-onset fevers, accompanied by a widespread, violaceous and often annular, cutaneous eruption. While the exact pathogenesis of this syndrome is still obscure, it is postulated that the inflammatory disease manifestations stem from excess secretion of interferons. Based on preliminary blood cytokine and gene expression studies, the signature seems to come mostly from type I interferons, which are proposed to lead to the recruitment of immature myeloid cells into the dermis and subcutis. In this study, we systematically analyzed skin biopsies from 6 CANDLE syndrome patients by routine histopathology and immunohistochemistry methods. Skin lesions showed the presence of extensive mixed dermal and subcutaneous inflammatory infiltrate, composed of mononuclear cells, atypical myeloid cells, neutrophils, eosinophils and some mature lymphocytes. Positive LEDER and myeloperoxidase staining supported the presence of myeloid cells. Positive CD68/PMG1 and CD163 staining confirmed the existence of histiocytes and monocytic macrophages in the inflammatory infiltrate. CD123 staining was positive, demonstrating the presence of plasmacytoid dendritic cells. Uncovering the unique histopathologic and immunohistochemical features of CANDLE syndrome provides tools for rapid and specific diagnosis of this disorder as well as further insight into the pathogenesis of this severe, life-threatening condition. PMID:26091509

Complete Treatment Versus Residual Lesion - Long-Term Evolution After Acute Coronary Syndrome

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Alexandre de Matos Soeiro

Full Text Available Abstract Introduction: A recently published study raised doubts about the need for percutaneous treatment of nonculprit lesions in patients with acute coronary syndromes (ACS. Methods: Retrospective, unicentric, observational study. Objective: To analyze the long-term outcomes in patients undergoing treatment of the culprit artery, comparing those who remained with significant residual lesions in nonculprit arteries (group I versus those without residual lesions in other coronary artery beds (group II. The study included 580 patients (284 in group I and 296 in group II between May 2010 and May 2013. We obtained demographic and clinical data, as well as information regarding the coronary treatment administered to the patients. In the statistical analysis, the primary outcome included combined events (reinfarction/angina, death, heart failure, and need for reintervention. The comparison between groups was performed using the chi-square test and ANOVA. The long-term analysis was conducted with the Kaplan-Meier method, with a mean follow-up of 9.86 months. Results: The mean ages were 63 years in group I and 62 years in group II. On long-term follow-up, there was no significant difference in combined events in groups I and II (31.9% versus 35.6%, respectively, p = 0.76. Conclusion: The strategy of treating the culprit artery alone seems safe. In this study, no long-term differences in combined endpoints were observed between patients who remained with significant lesions compared with those without other obstructions.

Neuropharmacological lesion localization in idiopathic Horner's syndrome in Golden Retrievers and dogs of other breeds.

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Simpson, Katherine M; Williams, David L; Cherubini, Giunio B

2015-01-01

To investigate whether idiopathic Horner's syndrome (HS) in Golden Retrievers is an exclusively preganglionic disorder based on denervation hypersensitivity pharmacological testing with phenylephrine. Medical records of dogs presented with HS between 2000 and 2012. Dogs presented with additional ocular or systemic signs were excluded. Clinical data examined included age, sex, duration of clinical signs, ancillary diagnostic test results, and time to mydriasis on topical ocular application of 1% phenylephrine. Lesions were diagnosed as postganglionic (mydriasis within 20 min) or preganglionic (mydriasis between 20 and 45 min). Medical records of 21 dogs of nine different breeds were included. An etiopathogenesis for Horner's syndrome was determined in five dogs, none of which were Golden Retrievers. All diagnoses correlated with pharmacological lesion localization. Ten Golden Retrievers were included (eight male and two female) with a mean age of 8.5 years (range: 4-13). Lesion localization was diagnosed as postganglionic in eight (mean: 10 min [range: 6-18]) and preganglionic in two Golden Retrievers (20 and 24 min). All cases were unilateral and had completely resolved within 15 weeks (range: 11-20). Recurrence was not reported in any of the patients. Idiopathic postganglionic HS was diagnosed in eight of 10 Golden Retrievers contradicting previous reports of a purely preganglionic localization. Etiopathogenesis of canine idiopathic HS remains to be determined; nevertheless, a vascular etiology cannot be excluded. Future studies using magnetic resonance angiography may aid in clarifying the pathogenesis. © 2013 American College of Veterinary Ophthalmologists.

Residual high- and low-attenuation lung lesions in survivors of adult respiratory distress syndrome: Etiologies and functional consequences

International Nuclear Information System (INIS)

Greene, R.; Kanarek, D.; Lynch, K.; Stark, P.; Zapol, W.

1986-01-01

Postrecovery CT and tests of respiratory function were performed in a subset of survivors from among 100 patients who had previously undergone bedide balloon occlusion pulmonary angiography for adult respiratory distress syndrome (ARDS). CT demonstrated multiple poorly marginated, low attenuation lesions, frequently corresponding to areas of vascular obstruction demonstrated on angiography during ARDS. The severity and extent of the lesions correlated with the clinical severity of ARDS, the presence of angiographic filling defects during ARDS, and persistent abnormalities of pulmonary function

The association of cognitive impairment with gray matter atrophy and cortical lesion load in clinically isolated syndrome.

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Diker, Sevda; Has, Arzu Ceylan; Kurne, Aslı; Göçmen, Rahşan; Oğuz, Kader Karlı; Karabudak, Rana

2016-11-01

Multiple sclerosis can impair cognition from the early stages and has been shown to be associated with gray matter damage in addition to white matter pathology. To investigate the profile of cognitive impairment in clinically isolated syndrome (CIS), and the contribution of cortical inflammation, cortical and deep gray matter atrophy, and white matter lesions to cognitive decline. Thirty patients with clinically isolated syndrome and twenty demographically- matched healthy controls underwent neuropsychologic assessment through the Rao Brief Repeatable Battery, and brain magnetic resonance imaging with double inversion recovery using a 3T scanner. Patients with clinically isolated syndrome performed significantly worse than healthy controls on tests that evaluated verbal memory, visuospatial learning and memory, and verbal fluency. Significant deep gray matter atrophy was found in the patients but cortical volume was not lower than the controls. Visual memory tests correlated with the volume of the hippocampus, cerebral white matter and deep gray matter structures and with cerebellar cortical atrophy. Cortical or white matter lesion load did not affect cognitive test results. In our patients with CIS, it was shown that cognitive impairment was mainly related to cerebral white matter, cerebellar cortical and deep gray matter atrophy, but not with cortical inflammation, at least in the early stage of disease. Copyright © 2016 Elsevier B.V. All rights reserved.

Possibilities of combined surgical treatment of pyonecrotic lesions in the neuroischemic form of diabetic foot syndrome

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Valeriy Afanas'evich Mitish

2009-03-01

Full Text Available Aim. To present results of combined surgical treatment of the ischemic form of diabetic foot syndrome complicated by pyonecrotic process. To show thatthe use of modern diagnostic tools and the choice of adequate treatment strategy permits to substantially reduce the number of above-the-knee amputations. Materials and methods. A total of 140 patients with diabetes mellitus and critical ischemia of lower extremities were under observation during 2004-2008.All of them had purulent and/or necrotic foot lesions. The patients were examined by X-ray, computed and magneto-resonance tomography of the feet,duplex scanning of lower leg vasculature, transcutaneous measurement of PO2, pelvic and lower leg arterial angiography. Results. A strategy of surgical treatment was developed to be used depending on the patients health status, clinical features and severity of pyonecroticprocesses in the foot, and the degree of involvement of the main blood vessels of lower extremities. Conclusion. Combination of endovascular surgery with various methods for plastic wound closure permits to extend the range of possibilities for the treatmentof high-risk patients, such as those with pyonecrotic lesions and neuroischemic form of diabetic foot syndrome. This approach opens up prospects fora significant decrease of percentage of above-the-knee amputations and improves the quality of life in these patients.

CAMERON LESIONS: LITERATURE REVIEW AND CASE PRESENTATION

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V. V. Vasilenko

2016-01-01

Full Text Available Cameron syndrome is the ulcerative or erosive lesions of mucosal layer at the sac of hiatal hernia which can cause chronic occult or overt bleeding and iron-deficiency anemia. Hiatal hernia is a relatively frequent finding, which is in most cases asymptomatic or manifested by dyspeptic symptoms of varying severity. Despite of being a very important association of hiatal hernia Cameron syndrome is not widely represented in medical literature. That`s the reason of a lack of awareness among physicians, surgeons and endoscopists about that pathology. Cameron lesions are significant pathology because they can become a source of chronic occult as well as an acute life-threatening bleeding. Those lesions of upper gastrointestinal tract are often misinterpreted or overlooked during standard diagnostic procedures. It can lead to the misdiagnosis and false ways of treatment. The review focuses on the pathogenesis, main diagnostic problems and treatment options of that pathology. The diagnostics of the Cameron syndrome is difficult because sometimes the lesions can`t be seen on upper gastrointestinal tract endoscopy. The review describes the criteria by which the physician may suspect Cameron syndrome when endoscopy results are not certain. Clinical case represents an important problem which is often faced by the doctors — the severe iron-deficiency anemia refractory to the medication and blood transfusions in the patients with Cameron lesions. It`s very important for doctor to be aware of that complication to include Cameron syndrome into the diagnostic search for the sources of persistent blood loss. Cameron lesions can be asymptomatic as well as be manifested in the form of severe chronic anemia. And that`s the reason why there are an important issue about the proper treatment which have to be provided in each case. The review describes the effectiveness of different treatment options and makes the conclusion about the principles on which doctor can

Abdominal ultrasonogram of autoimmune pancreatitis: Five cases of pancreatic lesions accompanied by Sjögren syndrome.

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Yoshizaki, Hideo; Takeuchi, Kazuo; Okuda, Chikao; Honjyo, Hajime; Yamamoto, Takatugu; Kora, Tetuo; Takamori, Yoriyuki

2002-09-01

The concept of autoimmune pancreatitis has recently been established, and ultrasonographic findings we obtained from five cases consistent with autoimmune pancreatitis are reported here. Case 1, a 77-year-old man, was admitted complaining of loss of body weight. Serum hepatobiliary enzymes and γ-globulin levels were elevated, and antinuclear antibody was positive, Abdominal ultrasonography showed dilatation of the intrahepatic bile duct, wall thickening of the common bile duct and hypoechoic swelling of the pancreatic head and body. ERCP revealed multiple stenosis of the intra-and extra-hepatic bile ducts, and diffuse irregular narrowing of the main pancreatic duct. The patient complained of thirst, and the minor salivary gland was examined histologically. Our diagnosis was Sjögren syndrome accompanied by sclerosing cholangitis and a pancreatic lesion. Obstructive jaundice also developed, and PTCD was therefore performed. Both the pancreatic swelling and multiple stenosis of the bile duct improved after steroids were administered. Case 2, a 71-year-old man, was admitted with jaundice. Abdominal ultrasonography showed hypoechoic swelling of the pancreas. ERCP showed stenosis of the common bile duct in the pancreatic head region and diffuse irregular narrowing of the main pancreatic duct. Histological examination of the minor salivary gland suggested Sjögren syndrome. Steroids were therefore administered because the presence of both hyper-γ-globulinemia and positive antinuclear antibody suggested involvement of the autoimmune mechanism. Steroid therapy improved the jaundice as well as the findings from the cholangiograms and pancreatograms. We also encountered three similar cases, all consistent with the concept of autoimmune pancreatitis. The ultrasonographic findings of the pancreatic lesion (1) showed them as homogeneous and markedly hypoechoic areas and, (2) visualized the main pancreatic duct in the lesion, which facilitated a differential diagnosis of the

The role of MSCT angiography in early detection of lower limb arterial lesions in patients with antiphospholipid syndrome.

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Saponjski, Jovica; Stojanovich, Ljudmila; Petrovic, Jelena; Saponjski, Dusan

2017-04-01

Antiphospholipid syndrome (APS) is an autoimmune disease which is characterized by arterial and venous thromboses, fetal loss, and the presence of antiphospholipid antibodies in the serum. It is characterized by accelerated atherosclerosis. Increased tendency towards thrombosis leads to the occurrence of various vascular events. The objective of our study was to determine if there are subclinical changes on lower limb arteries in APS patients and what the best diagnostic choice for their establishment is. In this study, we analyzed 50 patients with primary antiphospholipid syndrome (PAPS) and 50 patients, who have secondary antiphospholipid syndrome (SAPS). The results were compared to 50 controls. The groups were comparable with respect to age, gender, and traditional risk factors except for the lipid status, since controls had significantly higher levels of cholesterol and triglycerides. Study was conducted on 64-multi-slice computed tomography (64-MSCT), where we analyzed quantitative and morphological characteristics of blood vessel-detected lesions. Patients from the control group had statistically very significant elevated cholesterol and triglyceride levels in regard to the patients with SAPS and PAPS (p < 0.001 and p < 0.05). Analyzing percentage of diameter stenosis, we have established that lesions from group with 0-30% diameter stenosis (DS) in patients with PAPS (n = 47) and SAPS (n = 39) are more common than that in control group (n = 3, p < 0.001). The incidence of lesions higher than 70% DS in control group (n = 74) was statistically significant than that in patients with SAPS (n = 74, p < 0.05), while very statistically significant than that in patients with PAPS (n = 48, p < 0.001). Analyzing the qualitative characteristics of plaques, we have established significant higher frequency of soft tissue (n = 32) and mixed lesions (n = 36) in patients with PAPS than the calcified one (n = 7, p < 0.001). Our study showed that

Acute Korsakoff syndrome following mammillothalamic tract infarction.

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Yoneoka, Yuichiro; Takeda, Norio; Inoue, Akira; Ibuchi, Yasuo; Kumagai, Takashi; Sugai, Tsutomu; Takeda, Ken-ichiro; Ueda, Kaoru

2004-01-01

There are limited case reports of structural lesions causing Korsakoff syndrome. This report describes acute Korsakoff syndrome following localized, bilateral infarction of the mammillothalamic tracts (MTTs). Axial T2-weighted imaging revealed the lesions at the lateral wall level of the third ventricle and diffusion-weighted imaging confirmed that the left lesion was new and the right old. Korsakoff syndrome persisted 6 months after the onset. This case suggests that bilateral MTT dysfunction can lead to Korsakoff syndrome.

Oral Nodular Lesions in Patients with Sjögren's Syndrome: Unusual Oral Implications of a Systemic Disorder.

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Pinheiro, Juliana Barchelli; Tirapelli, Camila; Silva, Claudia Helena Lovato da; Komesu, Marilena Chinali; Petean, Flávio Calil; Louzada Junior, Paulo; León, Jorge Esquiche; Motta, Ana Carolina Fragoso

2017-01-01

Sjögren's syndrome (SS) is a systemic chronic autoimmune disorder affecting the lacrimal and salivary glands. SS may manifest as primary SS (pSS) or secondary SS (sSS), the latter occurring in the context of another autoimmune disorder. In both cases, the dry eyes and mouth affect the patient's quality of life. Late complications may include blindness, dental tissue destruction, oral candidiasis and lymphoma. This paper reports two cases of SS, each of them presenting unusual oral nodular lesion diagnosed as relapsed MALT lymphoma and mucocele. The importance of the diagnosis, treatment and management of the oral lesions by a dentist during the care of SS patients is emphasized, as the oral manifestations of SS may compromise the patient's quality of life.

Behçet's syndrome with pyoderma-gangrenosum-like lesions treated successfully with dapsone monotherapy.

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Joshi, Arun; Mamta

2004-10-01

Behçet's syndrome (BS) is a rare multisystem disorder belonging to a group of neutrophilic dermatoses. We report a 65-year-old male patient who had suffered from recurrent painful orogenital ulcers for 50 years from the age of 15 and started developing pustular and bullous lesions evolving into non-healing ulcers similar to those seen in pyoderma gangrenosum (PG) two months prior to presenting to us. There was no evidence of systemic disease or malignancy. Routine baseline investigations were within normal limits. The patient was treated successfully with dapsone, antibiotics, and local wound care.

Mesenchymal stem cells favour healing of the cutaneous radiation syndrome; Les cellules souches mesenchymateuses favorisent la cicatrisation des lesions cutanees radio induites

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Francois, S.; Mouiseddine, M.; Mathieu, N.; Semont, A.; Monti, P.; Dudoignon, N.; Sache, A.; Boutarfa, A.; Thierry, D.; Voisin, P.; Gourmelon, P.; Chapel, A. [IRSN, Dir. de radioprotection de l' Homme, 92 - Fontenay-aux-Roses (France)

2006-10-15

It has been suggested that human Mesenchymal Stem Cells (hMSC) could be used to repair numerous injured tissues. We have studied the potential use of hMSC in order to limit radiation-induced skin lesions. Immuno-deficient NOD/SCID mice were locally irradiated to the leg (30 Gy, dose rate 2.7 Gy/mn) using a {sup 60} Co source in order to induce a severe skin lesion. Cultured bone marrow hMSC were delivered intravenously to the mice. The irradiated skin samples were studied for the presence of the human cells, the severity of the lesions and the healing process. Macroscopic analysis and histology results showed that the lesions were evolving to a less severe degree of radiation dermatitis following hMSC transplant when compared to irradiated non-transplanted controls. Clinical scores for the studied skin parameters of treated mice were significantly improved. A faster healing was observed when compared to untreated mouse. Immuno-histology and Polymerase Chain reaction (PCR) analysis provided evidence that the human cells were found in the irradiated area. These results suggest a possible use of hMSC for the treatment of the early phase of the cutaneous radiation syndrome. A successful transplant of stem cells and subsequent reduction in radiation-induced complication may open the road to completely new strategies in cutaneous radiation syndrome therapy. (authors)

"Nine" syndrome: A new neuro-ophthalmologic syndrome: Report of two cases

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Rohan R Mahale

2015-01-01

Full Text Available "Eight-and-a-half" syndrome is a rare condition involving the ipsilateral abducens nucleus or paramedian pontine reticular formation (PPRF, the ipsilateral medial longitudinal fasciculus (MLF, and the adjacent facial colliculus/facial nerve fascicle. The condition is often caused by a lesion (vascular or demyelinating in the dorsal tegmentum of the caudal pons. There are new variants of this syndrome caused by extension of lesion to involve new adjacent structures in pontine tegmentum. We report two patients with different etiology presenting with clinical features suggestive of eight-and-a-half syndrome associated with hemiataxia representing "nine" syndrome (8– + – = 9 adding new dimension to "eight-and-a-half" syndrome.

[Correction of syndrome-associated metabolic disturbances in patients with erosive and ulcerative lesions in the gastroduodenal system].

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Kaĭsinova, A S; Efimenko, N V

2009-01-01

Correction of syndrome-associated metabolic disturbances in patients with erosive and ulcerative lesions in the gastroduodenal system was achieved by inclusion of moderately mineralized drinking water (Essentuki No 4 and the like), low-sulfide mineral baths, and essential phospholipids in the system of combined sanatorium-and-spa treatment. This approach allowed metabolic status of the patients to be improved and peroxide homeostasis stabilized. Moreover, it had generalized beneficial effect on the pathological process.

Influenza-associated Encephalitis/Encephalopathy Identified by the Australian Childhood Encephalitis Study 2013-2015.

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Britton, Philip N; Dale, Russell C; Blyth, Christopher C; Macartney, Kristine; Crawford, Nigel W; Marshall, Helen; Clark, Julia E; Elliott, Elizabeth J; Webster, Richard I; Cheng, Allen C; Booy, Robert; Jones, Cheryl A

2017-11-01

Influenza-associated encephalitis/encephalopathy (IAE) is an important cause of acute encephalitis syndrome in children. IAE includes a series of clinicoradiologic syndromes or acute encephalopathy syndromes that have been infrequently reported outside East Asia. We aimed to describe cases of IAE identified by the Australian Childhood Encephalitis study. Children ≤ 14 years of age with suspected encephalitis were prospectively identified in 5 hospitals in Australia. Demographic, clinical, laboratory, imaging, and outcome at discharge data were reviewed by an expert panel and cases were categorized by using predetermined case definitions. We extracted cases associated with laboratory identification of influenza virus for this analysis; among these cases, specific IAE syndromes were identified where clinical and radiologic features were consistent with descriptions in the published literature. We identified 13 cases of IAE during 3 southern hemisphere influenza seasons at 5 tertiary children's hospitals in Australia; 8 children with specific acute encephalopathy syndromes including: acute necrotizing encephalopathy, acute encephalopathy with biphasic seizures and late diffusion restriction, mild encephalopathy with reversible splenial lesion, and hemiconvulsion-hemiplegia syndrome. Use of influenza-specific antiviral therapy and prior influenza vaccination were infrequent. In contrast, death or significant neurologic morbidity occurred in 7 of the 13 children (54%). The conditions comprising IAE are heterogeneous with varied clinical features, magnetic resonance imaging changes, and outcomes. Overall, outcome of IAE is poor emphasizing the need for optimized prevention, early recognition, and empiric management.

Rowell syndrome

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Ramesh Y Bhat

2014-01-01

Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

[Influence of trigeminal nerve lesion on facial growth: study of two cases of Goldenhar syndrome].

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Darris, Pierre; Treil, Jacques; Marchal-Sixou, Christine; Baron, Pascal

2015-06-01

This cases report confirms the hypothesis that embryonic and maxillofacial growth are influenced by the peripheral nervous system, including the trigeminal nerve (V). So, it's interesting to use the stigma of the trigeminal nerve as landmarks to analyze the maxillofacial volume and understand its growth. The aim of this study is to evaluate the validity of the three-dimensional cephalometric analysis of Treil based on trigeminal landmarks. The first case is a caucasian female child with Goldenhar syndrome. The second case is a caucasian male adult affected by the same syndrome. In both cases, brain MRI showed an unilateral trigeminal nerve lesion, ipsilateral to the facial dysmorphia. The results of this radiological study tend to prove the primary role of the trigeminal nerve in craniofacial growth. These cases demonstrate the validity of the theory of Moss. They are one of anatomo-functional justifications of the three-dimensional cephalometric biometry of Treil based on trigeminal nerve landmarks. © EDP Sciences, SFODF, 2015.

Bullous Wells’ syndrome

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Bengu Cevirgen Cemil

2016-01-01

Full Text Available Wells’ syndrome (WS is an uncommon inflammatory skin disease which typically presents single or multiple erythematous and edematous urticarial plaques similar to cellulitis. The lesions may evolve into blue-grey morphea-like lesions and may persist for weeks or months. They ultimately heal without scar. Other clinical presentations reported in literature include papular and nodular and, rarely, bullous eruptions. Previously, bullous Wells’ syndrome was rarely reported in the literature. Herein, we describe a case of a female patient with bullous Wells’ syndrome localized to the upper limbs without any associated disorders.

Immune Profiling of Premalignant Lesions in Patients With Lynch Syndrome.

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Chang, Kyle; Taggart, Melissa W; Reyes-Uribe, Laura; Borras, Ester; Riquelme, Erick; Barnett, Reagan M; Leoni, Guido; San Lucas, F Anthony; Catanese, Maria T; Mori, Federica; Diodoro, Maria G; You, Y Nancy; Hawk, Ernest T; Roszik, Jason; Scheet, Paul; Kopetz, Scott; Nicosia, Alfredo; Scarselli, Elisa; Lynch, Patrick M; McAllister, Florencia; Vilar, Eduardo

2018-04-16

Colorectal carcinomas in patients with Lynch syndrome (LS) arise in a background of mismatch repair (MMR) deficiency, display a unique immune profile with upregulation of immune checkpoints, and response to immunotherapy. However, there is still a gap in understanding the pathogenesis of MMR-deficient colorectal premalignant lesions, which is essential for the development of novel preventive strategies for LS. To characterize the immune profile of premalignant lesions from a cohort of patients with LS. Whole-genome transcriptomic analysis using next-generation sequencing was performed in colorectal polyps and carcinomas of patients with LS. As comparator and model of MMR-proficient colorectal carcinogenesis, we used samples from patients with familial adenomatous polyposis (FAP). In addition, a total of 47 colorectal carcinomas (6 hypermutants and 41 nonhypermutants) were obtained from The Cancer Genome Atlas (TCGA) for comparisons. Samples were obtained from the University of Texas MD Anderson Cancer Center and "Regina Elena" National Cancer Institute, Rome, Italy. All diagnoses were confirmed by genetic testing. Polyps were collected at the time of endoscopic surveillance and tumors were collected at the time of surgical resection. The data were analyzed from October 2016 to November 2017. Assessment of the immune profile, mutational signature, mutational and neoantigen rate, and pathway enrichment analysis of neoantigens in LS premalignant lesions and their comparison with FAP premalignant lesions, LS carcinoma, and sporadic colorectal cancers from TCGA. The analysis was performed in a total of 28 polyps (26 tubular adenomas and 2 hyperplastic polyps) and 3 early-stage LS colorectal tumors from 24 patients (15 [62%] female; mean [SD] age, 48.12 [15.38] years) diagnosed with FAP (n = 10) and LS (n = 14). Overall, LS polyps presented with low mutational and neoantigen rates but displayed a striking immune activation profile characterized by CD4 T cells

Skin Lesions in European Hibernating Bats Associated with Geomyces destructans, the Etiologic Agent of White-Nose Syndrome

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Wibbelt, Gudrun; Puechmaille, S?bastien J.; Ohlendorf, Bernd; M?hldorfer, Kristin; Bosch, Thijs; G?rf?l, Tam?s; Passior, Karsten; Kurth, Andreas; Lacremans, Daniel; Forget, Fr?d?ric

2013-01-01

White-nose syndrome (WNS) has claimed the lives of millions of hibernating insectivorous bats in North America. Its etiologic agent, the psychrophilic fungus Geomyces destructans, causes skin lesions that are the hallmark of the disease. The fungal infection is characterized by a white powdery growth on muzzle, ears and wing membranes. While WNS may threaten some species of North American bats with regional extinction, infection in hibernating bats in Europe seems not to be associated with si...

"Symptomatic" infection-associated acute encephalopathy in children with underlying neurological disorders.

Science.gov (United States)

Hirayama, Yoshimichi; Saito, Yoshiaki; Maegaki, Yoshihiro

2017-03-01

Development of infection-associated acute encephalopathy (AE) is precipitated by several factors, including viral agents, age, and genetic polymorphisms. In addition, children with prior underlying neurological disorders can also present with AE. We reviewed 55 children with AE who were referred to hospitals participating in the Status Epilepticus Study Group from 1988 to 2013. AE was classified into eight subtypes: acute encephalopathy with biphasic seizures and late reduced diffusion (AESD); hemiconvulsion-hemiplegia syndrome (HH); acute necrotizing encephalopathy; hemorrhagic shock and encephalopathy syndrome (HSES); clinically mild encephalitis/encephalopathy with a reversible splenial lesion; acute encephalitis with refractory, repetitive partial seizures; Reye-like syndrome; and unclassified. Of the 55 AE cases, 14 (25.4%) had underlying neurological disorders, including perinatal insults (n=6) and genetic syndrome and/or brain malformations (n=8). These preceding morbidities were relatively common in AESD (6/18, 33.3%), HH (3/9, 33.3%), and HSES (3/6, 50.0%). History of epilepsy or febrile seizures were frequent in HH cases (4/9, 44.4%), whereas they were rare in other AE subtypes. Among the AE subgroups, HH, HSES, and AESD frequently emerged in preceding etiologies with augmented neuronal excitability. These subgroups may have distinct pathomechanism from the "cytokine storm" mediated AEs during childhood. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Metabolic syndrome and health-related behaviours associated with pre-oral cancerous lesions among adults aged 20-80 years in Yunlin County, Taiwan: a cross-sectional study.

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Chang, Chang-Cheng; Lin, Ming-Shyan; Chen, Yu-Tsung; Tu, Liang-Tse; Jane, Su-Whi; Chen, Mei-Yen

2015-12-18

To explore the associations of health-related behaviours, metabolic syndrome and risk factors in adults with pre-oral cancerous (POC) lesions in rural, disadvantaged communities with a high prevalence of oral cancer. A cross-sectional observational study. Community-based health survey in the western coastal area of Yunlin County, Taiwan. 5161 adult residents participated in this study. Assessed parameters included oral leukoplakia, oral submucous fibrosis, fasting blood glucose, triglycerides, high-density lipoprotein cholesterol, blood pressure and waist circumference. Statistical analyses included descriptive statistics, χ(2) tests and multivariate binary logistic regression. A high percentage of participants were found to have metabolic syndrome (40%) and POC lesions (7.3%). Participants with POC lesions tended to be male (psocioeconomic status are non-modifiable factors associated with POC and metabolic syndrome in adults, several factors, notably health behaviours, are modifiable. Clinicians can reduce the incidence and consequences of POC by developing programmes for early detection, encouraging regular dental check-ups, and initiating individualised, health-promoting behaviour modification programmes for reducing risky behaviours associated with oral cancer. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

An adult case of the developmental apraxia, agnosia, Gerstmann's syndrome with bilateral parieto-temporo-occipital lesions in brain CT

International Nuclear Information System (INIS)

Suzuki, Toshihito; Shiraishi, Hiroyasu; Koizumi, Junzo; Ichikawa, Tadahiko; Hayakawa, Tatsuo.

1986-01-01

A 36-year-old woman with a history of cerebral meningitis had various neuropsychological disorders, such as Gerstmann's syndrome, developmental apraxia and agnosia and difficulty in reading, in addition to moderate mental retardation and epileptoid. Cranial CT showed bilateral low-density areas with temporo-parieto-occipital extension. It seems that these lesions result from meningitis and are responsible for the occurrence of neuropsychological disorders. (Namekawa, K.)

Visual interhemispheric communication and callosal connections of the occipital lobes.

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Berlucchi, Giovanni

2014-07-01

Callosal connections of the occipital lobes, coursing in the splenium of the corpus callosum, have long been thought to be crucial for interactions between the cerebral hemispheres in vision in both experimental animals and humans. Yet the callosal connections of the temporal and parietal lobes appear to have more important roles than those of the occipital callosal connections in at least some high-order interhemispheric visual functions. The partial intermixing and overlap of temporal, parietal and occipital callosal connections within the splenium has made it difficult to attribute the effects of splenial pathological lesions or experimental sections to splenial components specifically related to select cortical areas. The present review describes some current contributions from the modern techniques for the tracking of commissural fibers within the living human brain to the tentative assignation of specific visual functions to specific callosal tracts, either occipital or extraoccipital. Copyright © 2013 Elsevier Ltd. All rights reserved.

What do we know about the cardiac valve lesion in the antiphospholipid syndrome (APS)?

Science.gov (United States)

Amigo, M-C

2014-10-01

Heart valve disease (HVD) is the most common cardiac manifestation in the antiphospholipid syndrome (APS). Valve lesions should be described according to the established definition. HVD is progressive despite anticoagulant/antiplatelet treatments. Around 4-6% of patients with HVD in APS will require valve replacement surgery, which is considered a very high risk procedure in APS. Unfortunately, no recommendations regarding medical treatment of antiphospholipid antibodies-associated HVD can be made at this moment. There are evidence-based data and strong pathophysiologic rationale for considering HVD as a manifestation of APS. Thus, HVD should be included as a criterion of definite APS. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Misdiagnosis of intraspinal lesions in childhood | Thompson | South ...

African Journals Online (AJOL)

Three children with intraspinal mass lesions in whom the diagnosis was initially missed are described. Their case histories highlight the specific clinical features of and diagnostic difficulties with the syndromes produced by lesions of the craniocervical junction, the mid-thoracic spinal cord and the cauda equina.

Multiple FNH-Like Lesions in a Patient with Chronic Budd-Chiari Syndrome: Gd-EOB-Enhanced MRI and BR1 CEUS Findings

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Caroline Newerla

2012-01-01

Full Text Available A-26-year old female patient with chronic Budd-Chiari syndrome due to different underlying blood disorders applied for a two-year followup of the liver with Gadolinium-ethoxybenzyl-diethylenetriaminepentaacetic-acid-(Gd-EOB-DTPA- enhanced MRI. The liver function tests were raised. Besides showing a progressive hepatosplenomegaly and a cirrhotic liver alteration, the MRI revealed multiple new nodular lesions in all liver segments. These lesions showed typical patterns in the precontrast images, while there was an arterial and a persistent portal venous enhancement. In the hepatobiliary liver-specific late phase, a central “washout” and a persistent rim enhancement were observed (target sign. The additionally performed contrast-enhanced ultrasonography showed a strong zentrifugal arterial enhancement of the lesions followed by an isoechoic enhancement in the portal venous and delayed liver phase. Histologically these lesions turned out as focal nodular hyperplasias (FNH or FNH-like lesions, also known as large regenerative nodules (LRNs. Differentiation between regenerative nodules like LRN and hepatocellular carcinoma (HCC in cirrhotic livers is crucial, and the target sign in the hepatobiliary phase of Gd-EOB-DTPA as well as the centrifugal arterial enhancement followed by an isoenhancement during a CEUS might be useful for establishing the correct diagnosis of such hypervascular lesions with proliferated and likely aberrant bile ducts.

Left-sided congenital heart lesions in mosaic Turner syndrome.

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Bouayed Abdelmoula, Nouha; Abdelmoula, Balkiss; Smaoui, Walid; Trabelsi, Imen; Louati, Rim; Aloulou, Samir; Aloulou, Wafa; Abid, Fatma; Kammoun, Senda; Trigui, Khaled; Bedoui, Olfa; Denguir, Hichem; Mallek, Souad; Ben Aziza, Mustapha; Dammak, Jamila; Kaabi, Oldez; Abdellaoui, Nawel; Turki, Fatma; Kaabi, Asma; Kamoun, Wafa; Jabeur, Jihen; Ltaif, Wided; Chaker, Kays; Fourati, Haytham; M'rabet, Samir; Ben Ameur, Hedi; Gouia, Naourez; Mhiri, Mohamed Nabil; Rebai, Tarek

2018-04-01

In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

Reiter's Syndrome.

Science.gov (United States)

Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

1979-01-01

A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

Location of lesion determines motor vs. cognitive consequences in patients with cerebellar stroke

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Catherine J. Stoodley

2016-01-01

Full Text Available Cerebellar lesions can cause motor deficits and/or the cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome. We used voxel-based lesion-symptom mapping to test the hypothesis that the cerebellar motor syndrome results from anterior lobe damage whereas lesions in the posterolateral cerebellum produce the CCAS. Eighteen patients with isolated cerebellar stroke (13 males, 5 females; 20–66 years old were evaluated using measures of ataxia and neurocognitive ability. Patients showed a wide range of motor and cognitive performance, from normal to severely impaired; individual deficits varied according to lesion location within the cerebellum. Patients with damage to cerebellar lobules III–VI had worse ataxia scores: as predicted, the cerebellar motor syndrome resulted from lesions involving the anterior cerebellum. Poorer performance on fine motor tasks was associated primarily with strokes affecting the anterior lobe extending into lobule VI, with right-handed finger tapping and peg-placement associated with damage to the right cerebellum, and left-handed finger tapping associated with left cerebellar damage. Patients with the CCAS in the absence of cerebellar motor syndrome had damage to posterior lobe regions, with lesions leading to significantly poorer scores on language (e.g. right Crus I and II extending through IX, spatial (bilateral Crus I, Crus II, and right lobule VIII, and executive function measures (lobules VII–VIII. These data reveal clinically significant functional regions underpinning movement and cognition in the cerebellum, with a broad anterior-posterior distinction. Motor and cognitive outcomes following cerebellar damage appear to reflect the disruption of different cerebro-cerebellar motor and cognitive loops.

Whole brain functional connectivity in clinically isolated syndrome without conventional brain MRI lesions

International Nuclear Information System (INIS)

Liu, Yaou; Dai, Zhengjia; Duan, Yunyun; Huang, Jing; Ren, Zhuoqiong; Li, Kuncheng; Liu, Zheng; Dong, Huiqing; Shu, Ni; He, Yong; Vrenken, Hugo; Wattjes, Mike P.; Barkhof, Frederik

2016-01-01

To investigate brain functional connectivity (FC) alterations in patients with clinically isolated syndromes (CIS) presenting without conventional brain MRI lesions, and to identify the FC differences between the CIS patients who converted to multiple sclerosis (MS) and those not converted during a 5-year follow-up. We recruited 20 CIS patients without conventional brain lesions, 28 patients with MS and 28 healthy controls (HC). Normalized voxel-based functional connectivity strength (nFCS) was determined using resting-state fMRI (R-fMRI) and compared among groups. Furthermore, 5-years clinical follow-up of the CIS patients was performed to examine the differences in nFCS between converters and non-converters. Compared to HC, CIS patients showed significantly decreased nFCS in the visual areas and increased nFCS in several brain regions predominately in the temporal lobes. MS patients revealed more widespread higher nFCS especially in deep grey matter (DGM), compared to CIS and HC. In the four CIS patients converting to MS, significantly higher nFCS was found in right anterior cingulate gyrus (ACC) and fusiform gyrus (FG), compared to non-converted patients. We demonstrated both functional impairment and compensation in CIS by R-fMRI. nFCS alteration in ACC and FG seems to occur in CIS patients at risk of developing MS. (orig.)

Skin Peeling Syndrome

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Sharma Rajeev

2000-01-01

Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

Renal involvement in primary antiphospholipid syndrome.

Science.gov (United States)

Marcantoni, Carmelita; Emmanuele, Carmela; Scolari, Francesco

2016-08-01

Antiphospholipid syndrome is an autoimmune disorder characterized by recurrent venous or arterial thrombosis and/or pregnancy-related problems associated with persistently elevated levels of antiphospholipid antibodies. The kidney is a major target organ in both primary and secondary antiphospholipid syndrome. This review describes several aspects of the renal involvement in the primary form of the syndrome, in particular the histological pattern of the so-called antiphospholipid syndrome nephropathy (APSN). APSN is a vascular nephropathy characterized by small vessel vaso-occlusive lesions associated with fibrous intimal hyperplasia of interlobular arteries, recanalizing thrombi in arteries and arterioles, and focal atrophy, a constellation of morphological lesions suggestive of primary antiphospholipid syndrome.

Spinal cord injury-induced immune deficiency syndrome enhances infection susceptibility dependent on lesion level.

Science.gov (United States)

Brommer, Benedikt; Engel, Odilo; Kopp, Marcel A; Watzlawick, Ralf; Müller, Susanne; Prüss, Harald; Chen, Yuying; DeVivo, Michael J; Finkenstaedt, Felix W; Dirnagl, Ulrich; Liebscher, Thomas; Meisel, Andreas; Schwab, Jan M

2016-03-01

Pneumonia is the leading cause of death after acute spinal cord injury and is associated with poor neurological outcome. In contrast to the current understanding, attributing enhanced infection susceptibility solely to the patient's environment and motor dysfunction, we investigate whether a secondary functional neurogenic immune deficiency (spinal cord injury-induced immune deficiency syndrome, SCI-IDS) may account for the enhanced infection susceptibility. We applied a clinically relevant model of experimental induced pneumonia to investigate whether the systemic SCI-IDS is functional sufficient to cause pneumonia dependent on spinal cord injury lesion level and investigated whether findings are mirrored in a large prospective cohort study after human spinal cord injury. In a mouse model of inducible pneumonia, high thoracic lesions that interrupt sympathetic innervation to major immune organs, but not low thoracic lesions, significantly increased bacterial load in lungs. The ability to clear the bacterial load from the lung remained preserved in sham animals. Propagated immune susceptibility depended on injury of central pre-ganglionic but not peripheral postganglionic sympathetic innervation to the spleen. Thoracic spinal cord injury level was confirmed as an independent increased risk factor of pneumonia in patients after motor complete spinal cord injury (odds ratio = 1.35, P spinal cord injury directly causes increased risk for bacterial infection in mice as well as in patients. Besides obvious motor and sensory paralysis, spinal cord injury also induces a functional SCI-IDS ('immune paralysis'), sufficient to propagate clinically relevant infection in an injury level dependent manner. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Benign lymphoepithelial lesion of the parotid gland in AIDS patients: CT characteristics

International Nuclear Information System (INIS)

Holiday, R.A.; Cohen, W.A.; Schinella, R.A.; Rothstein, S.G.; Persky, M.S.; Jacobs, J.M.

1987-01-01

Contrast agent-enhanced CT scans in nine male patients with histologically proved benign lymphoepithelial lesions of the perotid gland were reviewed. All scans showed cystic-appearing masses with peripheral rim enhancement corresponding to the macroscopic appearance of the lesion. Five patients were seropositive for human immunodeficiency virus (HIV) infection or had infections seen in acquired immunodeficiency syndrome. Three patients were members of high-risk groups. Only one patient had symptoms of the SICCA syndrome. Once a rare cause of parotid gland enlargement, benign lymphoepithelial lesions have recently been seen with increasing frequency in patients with HIV infection. Although the CT appearance is not pathognomic, correlation results of aspiration cytology and with clinical history can lead to a preoperative diagnosis of a benign lymphoepithelial lesion

Anterior spinal cord syndrome of unknown etiology

OpenAIRE

Klakeel, Merrine; Thompson, Justin; Srinivasan, Rajashree; McDonald, Frank

2015-01-01

A spinal cord injury encompasses a physical insult to the spinal cord. In the case of anterior spinal cord syndrome, the insult is a vascular lesion at the anterior spinal artery. We present the cases of two 13-year-old boys with anterior spinal cord syndrome, along with a review of the anatomy and vasculature of the spinal cord and an explanation of how a lesion in the cord corresponds to anterior spinal cord syndrome.

A Case with Cowden Syndrome

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Nehir Parlak

2015-06-01

Full Text Available Cowden syndrome is an autosomal dominant rare inherited disorder characterized by multiple hamartomas in variety of tissues from all three embryonic layers. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules, also macrocephaly and malignancies including breast, tyhroid and endometrial carcinoma are hallmark of the disease. Here we report a 47-year-old male patient with mucucutaneous lesions, gastrointestinal polyposis and macrocephaly diagnosed as Cowden syndrome.

Focal giant cell cardiomyopathy with Beckwith-Wiedemann syndrome.

Science.gov (United States)

Kapur, S; Kuehl, K S; Midgely, F M; Chandra, R S

1985-01-01

Cardiac involvement in Beckwith-Wiedemann syndrome is mostly limited to mild cardiomegaly. Although these patients have visceromegaly, macroglossia, gigantism, and adrenal cytomegaly, no significant myocardial changes have been described. An infant with dysmorphic features of this syndrome had supraventricular tachycardia since birth. Nodular lesions were present in the right atrium. Morphologically these lesions were composed of hypertrophic myocardial fibers admixed with multinucleated giant cells of myogenic origin. The exact nature of these lesions remains undetermined. It is postulated that hypertrophic myocardial cells may represent cardiac cytomegaly as a manifestation of the accelerated growth potential of cells seen with this syndrome.

POEMS syndrome: unusual radiographic, scintigraphic and CT features

International Nuclear Information System (INIS)

Narvaez, J.A.; Majos, C.; Valls, C.; Fernandez-Cabrera, L.; Narvaez, J.

1998-01-01

POEMS syndrome is a multisystemic disorder related to a plasma cell dyscrasia. Radiologically, this syndrome is characterized by sclerotic focal bone lesions with a normal radionuclide bone scan. We report a case of POEMS syndrome with an expansile lytic lesion in the sternum showing periosteal reaction and soft tissue mass, which revealed locally increased uptake of radiotracer in bone scintigraphy. These unusual findings and the differential diagnosis are discussed. (orig.)

Lateral and Anterior Thalamic Lesions Impair Independent Memory Systems

Science.gov (United States)

Mitchell, Anna S.; Dalrymple-Alford, John C.

2006-01-01

Damage to the medial region of the thalamus, both in clinical cases (e.g., patients with infarcts or the Korsakoff's syndrome) and animal lesion models, is associated with variable amnesic deficits. Some studies suggest that many of these memory deficits rely on the presence of lateral thalamic lesions (LT) that include the intralaminar nuclei,…

A Rare Pontine Neuro-ophthalmic Syndrome: Eight-and-a-Half Syndrome

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Esra Eruyar

2017-06-01

Full Text Available One-and-a half syndrome is seen in paramedian pontine lesions, and may also co-exist with cranial nerve paralysis. This clinical situation is called eight-and-a-half syndrome when facial nerve paralysis also accompanies this manifestation. A man aged 38 years was admitted with symptoms of sudden-onset binocular diplopia and dizziness. The patient had no known co-morbidities. Cranial magnetic resonance imaging showed a small-sized infarct in the left paramedian pontine tegmentum posterior area. In his neuro-ophthalmologic examination, total paresis of left eye horizontal movements, mild lateral deviation, and monocular nystagmus during abduction of the right eye were observed. The patient also had peripheral facial paralysis on the left side; therefore, no signs of motor deficit of his extremities were examined. Eight-and-a-half syndrome is a rare disorder that is seen in localized-small pons lesions, mostly accompanied by infarcts. This clinical manifestation is called eight-and-a-half syndrome and arises within lesions in both the parapontine reticular formation and the medial longitudinal fasciculus in the inferior pons tegmentum where horizontal eye movements are controlled, and facial axons adjacent to the nucleus of the sixth nerve. We wanted to present this case to emphasize this rare situation

Anti-inflammatory effects of rebamipide eyedrop administration on ocular lesions in a murine model of primary Sjögren's syndrome.

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Rieko Arakaki

Full Text Available Topical therapy is effective for dry eye, and its prolonged effects should help in maintaining the quality of life of patients with dry eye. We previously reported that the oral administration of rebamipide (Reb, a mucosal protective agent, had a potent therapeutic effect on autoimmune lesions in a murine model of Sjögren's syndrome (SS. However, the effects of topical treatment with Reb eyedrops on the ocular lesions in the murine model of SS are unknown.Reb eyedrops were administered to the murine model of SS aged 4-8 weeks four times daily. Inflammatory lesions of the extraorbital and intraorbital lacrimal glands and Harderian gland tissues were histologically evaluated. The direct effects of Reb on the lacrimal glands were analyzed using cultured lacrimal gland cells. Tear secretions of Reb-treated mice were significantly increased compared with those of untreated mice. In addition to the therapeutic effect of Reb treatment on keratoconjunctivitis, severe inflammatory lesions of intraorbital lacrimal gland tissues in this model of SS were resolved. The mRNA expression levels of IL-10 and mucin 5Ac in conjunctival tissues from Reb-treated mice was significantly increased compared with those of control mice. Moreover, lactoferrin production from lacrimal gland cells was restored by Reb treatment.Topical Reb administration had an anti-inflammatory effect on the ocular autoimmune lesions in the murine model of SS and a protective effect on the ocular surfaces.

Neurological manifestations and PET studies of the thalamic vascular lesions

International Nuclear Information System (INIS)

Matsuda, Shinji; Kawamura, Mitsuru; Hirayama, Keizo

1995-01-01

We divided 38 patients with cerebrovascular disease of the thalamus into 5 groups according to the site of the thalamic lesions as confirmed by X-ray CT and/or MRI. In 16 patients, we examined the cerebral blood flow (CBF) and cerebral metabolic rate of oxygen (CMRO 2 ) by positron emission tomography (PET). In the anteromedial thalamic lesion group, patients displayed disturbances of spontaneity, memory, reading and writing. CBF and CMRO 2 were decreased in the frontal, parietal and temporal lobes on the side of the lesion. In the dorsolateral thalamic lesion group, ataxic hemiparesis was a characteristic symptom. CBF and CMRO 2 were decreased in frontoparietal lobes on the side of the lesion. In the group with lesions confined to the nucleus ventralis posterioris thalami, the main symptoms were sensory disturbance, with cheiro-oral sensory syndrome being particularly evident. CBF and CMRO 2 were decreased in the parietal lobe on the side of the lesion. In the group with posterolateral thalamic lesions without pulvinar involvement, patients exhibited thalamic syndrome without thalamic pain. CBF and CMRO 2 were decreased in the frontoparietal and temporal lobes on the side of the lesion. In contrast, in the group with posterolateral thalamic lesions with pulvinar involvement, all patients showed thalamic pain. The decrease in CBF and CMRO 2 extended to the inferomedial region of the temporal lobe in addition to the area of decreased CBF and CMRO 2 observed in the group with posterolateral thalamic lesions without pulvinar involvement. Based on these results, we speculate that the neurological manifestations of thalamic vascular disease are associated with a decrease in cortical CBF and CMRO 2 secondary to the thalamic lesions. (author)

A case of adrenal Cushing's syndrome with bilateral adrenal masses.

Science.gov (United States)

Guo, Ya-Wun; Hwu, Chii-Min; Won, Justin Ging-Shing; Chu, Chia-Huei; Lin, Liang-Yu

2016-01-01

A functional lesion in corticotrophin (ACTH)-independent Cushing's syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and (131)I-6β-iodomethyl-19-norcholesterol ((131)I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (Cushing's syndrome presenting with bilateral adrenal masses. The clinical presentation of Cushing' syndrome includes symptoms and signs of fat redistribution and protein-wasting features.The diagnosis of patients with ACTH-independent Cushing's syndrome with bilateral adrenal masses is challenging for localisation of the lesion.Both adrenal venous sampling and (131)I-NP-59 scintigraphy are good methods to use in these patients with Cushing's syndrome presenting with bilateral adrenal masses.

Reiter′s Syndrome

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S S Savant

1979-01-01

Full Text Available A case of Reiter′s syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter′s syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

Integrated SPECT/CT for assessment of haemodynamically significant coronary artery lesions in patients with acute coronary syndrome

Energy Technology Data Exchange (ETDEWEB)

Rispler, Shmuel [Technion - Israel Institute of Technology, Department of Cardiology, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel); Technion - Israel Institute of Technology, Department of Nuclear Medicine, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel); Aronson, Doron; Roguin, Ariel; Beyar, Rafael [Technion - Israel Institute of Technology, Department of Cardiology, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel); Abadi, Sobhi; Engel, Ahuva [Technion - Israel Institute of Technology, Department of Medical Imaging, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel); Israel, Ora; Keidar, Zohar [Technion - Israel Institute of Technology, Department of Nuclear Medicine, Rambam Health Care Campus and the B. Rappaport Faculty of Medicine, Haifa (Israel)

2011-10-15

Early risk stratification in patients with non-ST elevation acute coronary syndromes (NSTE-ACS) is important since the benefit from more aggressive and costly treatment strategies is proportional to the risk of adverse clinical events. In the present study we assessed whether hybrid single photon emission computed tomography (SPECT)/coronary computed tomography angiography (CCTA) technology could be an appropriate tool in stratifying patients with NSTE-ACS. SPECT/CCTA was performed in 90 consecutive patients with NSTE-ACS. The Thrombolysis in Myocardial Infarction risk score (TIMI-RS) was used to classify patients as low- or high-risk. Imaging was performed using SPECT/CCTA to identify haemodynamically significant lesions defined as >50% stenosis on CCTA with a reversible perfusion defect on SPECT in the corresponding territory. CCTA demonstrated at least one lesion with >50% stenosis in 35 of 40 high-risk patients (87%) as compared to 14 of 50 low-risk patients (35%; TIMI-RS <3; p <0.0001). Of the 40 high-risk and 50 (16%) low-risk TIMI-RS patients, 16 (40%) and 8 (16%), respectively, had haemodynamically significant lesions (p = 0.01). Patients defined as high-risk by a high TIMI-RS, a positive CCTA scan or both (n = 45) resulted in a sensitivity of 95%, specificity of 49%, PPV of 35% and NPV of 97% for having haemodynamically significant coronary lesions. Those with normal perfusion were spared revascularization procedures, regardless of their TIMI-RS. Noninvasive assessment of coronary artery disease by SPECT/CCTA may play an important role in risk stratification of patients with NSTE-ACS by better identifying the subgroup requiring intervention. (orig.)

Skin lesions in European hibernating bats associated with Geomyces destructans, the etiologic agent of white-nose syndrome.

Science.gov (United States)

Wibbelt, Gudrun; Puechmaille, Sébastien J; Ohlendorf, Bernd; Mühldorfer, Kristin; Bosch, Thijs; Görföl, Tamás; Passior, Karsten; Kurth, Andreas; Lacremans, Daniel; Forget, Frédéric

2013-01-01

White-nose syndrome (WNS) has claimed the lives of millions of hibernating insectivorous bats in North America. Its etiologic agent, the psychrophilic fungus Geomyces destructans, causes skin lesions that are the hallmark of the disease. The fungal infection is characterized by a white powdery growth on muzzle, ears and wing membranes. While WNS may threaten some species of North American bats with regional extinction, infection in hibernating bats in Europe seems not to be associated with significant mortality. We performed histopathological investigations on biopsy samples of 11 hibernating European bats, originating from 4 different countries, colonized by G. destructans. One additional bat was euthanized to allow thorough examination of multiple strips of its wing membranes. Molecular analyses of touch imprints, swabs and skin samples confirmed that fungal structures were G. destructans. Additionally, archived field notes on hibernacula monitoring data in the Harz Mountains, Germany, over an 11-year period (2000-2011) revealed multiple capture-recapture events of 8 banded bats repeatedly displaying characteristic fungal colonization. Skin lesions of G. destructans-affected hibernating European bats are intriguingly similar to the epidermal lesions described in North American bats. Nevertheless, deep invasion of fungal hyphae into the dermal connective tissue with resulting ulceration like in North American bats was not observed in the biopsy samples of European bats; all lesions found were restricted to the layers of the epidermis and its adnexae. Two bats had mild epidermal cupping erosions as described for North American bats. The possible mechanisms for any difference in outcomes of G. destructans infection in European and North American bats still need to be elucidated.

Integrated SPECT/CT for assessment of haemodynamically significant coronary artery lesions in patients with acute coronary syndrome

International Nuclear Information System (INIS)

Rispler, Shmuel; Aronson, Doron; Roguin, Ariel; Beyar, Rafael; Abadi, Sobhi; Engel, Ahuva; Israel, Ora; Keidar, Zohar

2011-01-01

Early risk stratification in patients with non-ST elevation acute coronary syndromes (NSTE-ACS) is important since the benefit from more aggressive and costly treatment strategies is proportional to the risk of adverse clinical events. In the present study we assessed whether hybrid single photon emission computed tomography (SPECT)/coronary computed tomography angiography (CCTA) technology could be an appropriate tool in stratifying patients with NSTE-ACS. SPECT/CCTA was performed in 90 consecutive patients with NSTE-ACS. The Thrombolysis in Myocardial Infarction risk score (TIMI-RS) was used to classify patients as low- or high-risk. Imaging was performed using SPECT/CCTA to identify haemodynamically significant lesions defined as >50% stenosis on CCTA with a reversible perfusion defect on SPECT in the corresponding territory. CCTA demonstrated at least one lesion with >50% stenosis in 35 of 40 high-risk patients (87%) as compared to 14 of 50 low-risk patients (35%; TIMI-RS <3; p <0.0001). Of the 40 high-risk and 50 (16%) low-risk TIMI-RS patients, 16 (40%) and 8 (16%), respectively, had haemodynamically significant lesions (p = 0.01). Patients defined as high-risk by a high TIMI-RS, a positive CCTA scan or both (n = 45) resulted in a sensitivity of 95%, specificity of 49%, PPV of 35% and NPV of 97% for having haemodynamically significant coronary lesions. Those with normal perfusion were spared revascularization procedures, regardless of their TIMI-RS. Noninvasive assessment of coronary artery disease by SPECT/CCTA may play an important role in risk stratification of patients with NSTE-ACS by better identifying the subgroup requiring intervention. (orig.)

Skin lesions in European hibernating bats associated with Geomyces destructans, the etiologic agent of white-nose syndrome.

Directory of Open Access Journals (Sweden)

Gudrun Wibbelt

Full Text Available White-nose syndrome (WNS has claimed the lives of millions of hibernating insectivorous bats in North America. Its etiologic agent, the psychrophilic fungus Geomyces destructans, causes skin lesions that are the hallmark of the disease. The fungal infection is characterized by a white powdery growth on muzzle, ears and wing membranes. While WNS may threaten some species of North American bats with regional extinction, infection in hibernating bats in Europe seems not to be associated with significant mortality. We performed histopathological investigations on biopsy samples of 11 hibernating European bats, originating from 4 different countries, colonized by G. destructans. One additional bat was euthanized to allow thorough examination of multiple strips of its wing membranes. Molecular analyses of touch imprints, swabs and skin samples confirmed that fungal structures were G. destructans. Additionally, archived field notes on hibernacula monitoring data in the Harz Mountains, Germany, over an 11-year period (2000-2011 revealed multiple capture-recapture events of 8 banded bats repeatedly displaying characteristic fungal colonization. Skin lesions of G. destructans-affected hibernating European bats are intriguingly similar to the epidermal lesions described in North American bats. Nevertheless, deep invasion of fungal hyphae into the dermal connective tissue with resulting ulceration like in North American bats was not observed in the biopsy samples of European bats; all lesions found were restricted to the layers of the epidermis and its adnexae. Two bats had mild epidermal cupping erosions as described for North American bats. The possible mechanisms for any difference in outcomes of G. destructans infection in European and North American bats still need to be elucidated.

The neuroimaging of Leigh syndrome: case series and review of the literature

International Nuclear Information System (INIS)

Bonfante, Eliana; Riascos, Roy F.; Koenig, Mary Kay; Adejumo, Rahmat B.; Perinjelil, Vinu

2016-01-01

Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers. (orig.)

The neuroimaging of Leigh syndrome: case series and review of the literature

Energy Technology Data Exchange (ETDEWEB)

Bonfante, Eliana; Riascos, Roy F. [The University of Texas Medical School at Houston, Department of Diagnostic and Interventional Imaging, Houston, TX (United States); Koenig, Mary Kay [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Mitochondrial Center of Excellence Leigh Clinic, Houston, TX (United States); Adejumo, Rahmat B.; Perinjelil, Vinu [The University of Texas Medical School at Houston, Department of Pediatrics, Division of Child and Adolescent Neurology, Houston, TX (United States)

2016-04-15

Leigh syndrome by definition is (1) a neurodegenerative disease with variable symptoms, (2) caused by mitochondrial dysfunction from a hereditary genetic defect and (3) accompanied by bilateral central nervous system lesions. A genetic etiology is confirmed in approximately 50% of patients, with more than 60 identified mutations in the nuclear and mitochondrial genomes. Here we review the clinical features and imaging studies of Leigh syndrome and describe the neuroimaging findings in a cohort of 17 children with genetically confirmed Leigh syndrome. MR findings include lesions in the brainstem in 9 children (53%), basal ganglia in 13 (76%), thalami in 4 (24%) and dentate nuclei in 2 (12%), and global atrophy in 2 (12%). The brainstem lesions were most frequent in the midbrain and medulla oblongata. With follow-up an increased number of lesions from baseline was observed in 7 of 13 children, evolution of the initial lesion was seen in 6, and complete regression of the lesions was seen in 3. No cerebral white matter lesions were found in any of the 17 children. In concordance with the literature, we found that Leigh syndrome follows a similar pattern of bilateral, symmetrical basal ganglia or brainstem changes. Lesions in Leigh syndrome evolve over time and a lack of visible lesions does not exclude the diagnosis. Reversibility of lesions is seen in some patients, making the continued search for treatment and prevention a priority for clinicians and researchers. (orig.)

POEMS syndrome: unusual radiographic, scintigraphic and CT features

Energy Technology Data Exchange (ETDEWEB)

Narvaez, J.A.; Majos, C.; Valls, C.; Fernandez-Cabrera, L. [Department of CT and MR Imaging, Ciudad Sanitaria y Universitaria de Bellvitge, Barcelona (Spain); Narvaez, J. [Department of Rheumatology, Hospital Princeps d`Espanya, L`Hospitalet de Llobregat, Barcelona (Spain)

1998-02-01

POEMS syndrome is a multisystemic disorder related to a plasma cell dyscrasia. Radiologically, this syndrome is characterized by sclerotic focal bone lesions with a normal radionuclide bone scan. We report a case of POEMS syndrome with an expansile lytic lesion in the sternum showing periosteal reaction and soft tissue mass, which revealed locally increased uptake of radiotracer in bone scintigraphy. These unusual findings and the differential diagnosis are discussed. (orig.) With 3 figs., 8 refs.

Primary CNS lymphoma as a cause of Korsakoff syndrome.

Science.gov (United States)

Toth, Cory; Voll, Chris; Macaulay, Robert

2002-01-01

Korsakoff syndrome presents with memory dysfunction with retrograde amnesia, anterograde amnesia, limited insight into dysfunction, and confabulation. The most common etiology of Korsakoff syndrome is thiamine deficiency secondary to alcoholism. There are limited case reports of structural lesions causing Korsakoff syndrome. A 46-year-old male with a long history of alcoholism presented with a history of confusion, amnesia, and confabulation with no localizing features on neurological examination. The patient showed no clinical change with intravenous thiamine. Computed tomography of the brain revealed a heterogenous, enhancing mass lesion centered within the third ventricle, with other lesions found throughout cortical and subcortical regions. The patient was given dexamethasone i.v. without noticeable clinical improvement but with marked radiological improvement with mass reduction. Stereotactic biopsy revealed a diagnosis of primary central nervous system (CNS) lymphoma. Most patients presenting with Korsakoff syndrome have thiamine deficiency; however, mass lesions can produce an identical clinical picture. This is the first case report of a patient with primary CNS lymphoma presenting as Korsakoff syndrome.

Sinusoidal obstruction syndrome (SOS) related to chemotherapy for colorectal liver metastases: factors predictive of severe SOS lesions and protective effect of bevacizumab.

Science.gov (United States)

Hubert, Catherine; Sempoux, Christine; Humblet, Yves; van den Eynde, Marc; Zech, Francis; Leclercq, Isabelle; Gigot, Jean-François

2013-11-01

The most frequent presentation of chemotherapy-related toxicity in colorectal liver metastases (CRLM) is sinusoidal obstruction syndrome (SOS). The purpose of the present study was to identify preoperative factors predictive of SOS and to establish associations between type of chemotherapy and severity of SOS. A retrospective study was carried out in a tertiary academic referral hospital. Patients suffering from CRLM who had undergone resection of at least one liver segment were included. Grading of SOS on the non-tumoral liver parenchyma was accomplished according to the Rubbia-Brandt criteria. A total of 151 patients were enrolled and divided into four groups according to the severity of SOS (grades 0-3). Multivariate analysis identified oxaliplatin and 5-fluorouracil as chemotherapeutic agents responsible for severe SOS lesions (P SOS lesions (P = 0.005). Univariate analysis identified the score on the aspartate aminotransferase : platelets ratio index (APRI) as the most significant biological factor predictive of severe SOS lesions. Splenomegaly is also significantly associated with the occurrence of severe SOS lesions. The APRI score and splenomegaly are effective as factors predictive of SOS. Bevacizumab has a protective effect against SOS. © 2013 International Hepato-Pancreato-Biliary Association.

Disseminated Mycobacterium kansasii infection with cutaneous lesions in an immunocompetent patient

Directory of Open Access Journals (Sweden)

Miaomiao Zhang

2017-09-01

Full Text Available A case of disseminated Mycobacterium kansasii infection involving the skin and soft tissue in a 57-year-old male farmer who presented with recurrent fever, respiratory syndromes, and skin lesions is reported. The positive findings of syndromes, laboratory examinations, and identification of M. kansasii in puncture fluid indicated the diagnosis of disseminated M. kansasii infection involving the skin and soft tissue, lungs, and mediastinal lymph nodes. After applying the standard HRE regimen (isoniazid 300 mg/day, rifampicin 600 mg/day, and ethambutol 750 mg/day, the patient’s temperature normalized and his symptoms improved gradually. No notable adverse drug reactions occurred and the skin lesions had healed after 4 months of follow-up. Disseminated M. kansasii infections occur mainly in immunocompromised patients. Moreover, disseminated infections with skin lesions is rare in immunocompetent patients. Following a review of the literature, only eight similar cases were identified as of disseminated M. kansasii infection with cutaneous lesions, and thecase presented here appears to be the second involving an immunocompetent individual. Special attention should be paid to a persistent and chronic rash following a chronic respiratory syndrome in order to exclude skin disease caused by non-tuberculous mycobacteria.

Neurological manifestations and PET studies of the thalamic vascular lesions

Energy Technology Data Exchange (ETDEWEB)

Matsuda, Shinji; Kawamura, Mitsuru; Hirayama, Keizo [Chiba Univ. (Japan). School of Medicine

1995-02-01

We divided 38 patients with cerebrovascular disease of the thalamus into 5 groups according to the site of the thalamic lesions as confirmed by X-ray CT and/or MRI. In 16 patients, we examined the cerebral blood flow (CBF) and cerebral metabolic rate of oxygen (CMRO{sub 2}) by positron emission tomography (PET). In the anteromedial thalamic lesion group, patients displayed disturbances of spontaneity, memory, reading and writing. CBF and CMRO{sub 2} were decreased in the frontal, parietal and temporal lobes on the side of the lesion. In the dorsolateral thalamic lesion group, ataxic hemiparesis was a characteristic symptom. CBF and CMRO{sub 2} were decreased in frontoparietal lobes on the side of the lesion. In the group with lesions confined to the nucleus ventralis posterioris thalami, the main symptoms were sensory disturbance, with cheiro-oral sensory syndrome being particularly evident. CBF and CMRO{sub 2} were decreased in the parietal lobe on the side of the lesion. In the group with posterolateral thalamic lesions without pulvinar involvement, patients exhibited thalamic syndrome without thalamic pain. CBF and CMRO{sub 2} were decreased in the frontoparietal and temporal lobes on the side of the lesion. In contrast, in the group with posterolateral thalamic lesions with pulvinar involvement, all patients showed thalamic pain. The decrease in CBF and CMRO{sub 2} extended to the inferomedial region of the temporal lobe in addition to the area of decreased CBF and CMRO{sub 2} observed in the group with posterolateral thalamic lesions without pulvinar involvement. Based on these results, we speculate that the neurological manifestations of thalamic vascular disease are associated with a decrease in cortical CBF and CMRO{sub 2} secondary to the thalamic lesions. (author).

The stress ulcer syndrome

NARCIS (Netherlands)

H.A. van Essen

1986-01-01

textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

Acute hepatic encephalopathy with diffuse cortical lesions

Energy Technology Data Exchange (ETDEWEB)

Arnold, S.M.; Spreer, J.; Schumacher, M. [Section of Neuroradiology, Univ. of Freiburg (Germany); Els, T. [Dept. of Neurology, University of Freiburg (Germany)

2001-07-01

Acute hepatic encephalopathy is a poorly defined syndrome of heterogeneous aetiology. We report a 49-year-old woman with alcoholic cirrhosis and hereditary haemorrhagic telangiectasia who developed acute hepatic coma induced by severe gastrointestinal bleeding. Laboratory analysis revealed excessively elevated blood ammonia. MRI showed lesions compatible with chronic hepatic encephalopathy and widespread cortical signal change sparing the perirolandic and occipital cortex. The cortical lesions resembled those of hypoxic brain damage and were interpreted as acute toxic cortical laminar necrosis. (orig.)

Acute hepatic encephalopathy with diffuse cortical lesions

International Nuclear Information System (INIS)

Arnold, S.M.; Spreer, J.; Schumacher, M.; Els, T.

2001-01-01

Acute hepatic encephalopathy is a poorly defined syndrome of heterogeneous aetiology. We report a 49-year-old woman with alcoholic cirrhosis and hereditary haemorrhagic telangiectasia who developed acute hepatic coma induced by severe gastrointestinal bleeding. Laboratory analysis revealed excessively elevated blood ammonia. MRI showed lesions compatible with chronic hepatic encephalopathy and widespread cortical signal change sparing the perirolandic and occipital cortex. The cortical lesions resembled those of hypoxic brain damage and were interpreted as acute toxic cortical laminar necrosis. (orig.)

Cowden syndrome

Directory of Open Access Journals (Sweden)

Ravi Prakash S

2010-01-01

Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

Coral disease physiology: the impact of Acroporid white syndrome on Symbiodinium

DEFF Research Database (Denmark)

Roff, G.; Kvennefors, E. C. E.; Ulstrup, Karin Elizabeth

2008-01-01

Acroporid white syndrome, a disease-like syndrome from the Great Barrier Reef, results from degenerative host tissue at lesion borders. Tissue preceding lesion borders appears visually healthy, but it is currently unclear whether the endosymbiotic zooxanthellae (Symbiodinium) are physiologically...

Endoscopic detection rate of sessile serrated lesions in Lynch syndrome patients is comparable to an age- and gender-matched control population: case-control study with expert pathology review

NARCIS (Netherlands)

Vleugels, Jasper L. A.; Sahin, Husna; Hazewinkel, Yark; Koens, Lianne; van den Berg, Jose G.; van Leerdam, Monique E.; Dekker, Evelien

2017-01-01

Carcinogenesis in Lynch syndrome involves fast progression of adenomas to colorectal cancer (CRC) due to microsatellite instability. The role of sessile serrated lesions (SSLs) and the serrated neoplasia pathway in these patients is unknown. The aim of this matched case-control study was to compare

Gorlin-Goltz Syndrome

Directory of Open Access Journals (Sweden)

Padma Pandeshwar

2012-01-01

Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

Autoerythrocyte Sensitization Syndrome: A Case Report

Directory of Open Access Journals (Sweden)

Pinar Ozuguz

2014-04-01

Full Text Available Autoerythrocyte sensitization syndrome or Gardner-Diamond syndrome is a rare syndrome, characterized by recurrent, spontaneous, painful ecchymosis. The lesions occur particularly after emotional stress or mild trauma. Psychiatric problems are commonly observed in these patients. The lower limbs and the trunk are the most often localizations; however, lesions can appear on any other skin area. It is thought to be a sensitivity to intradermally injected autoerythrocyte. The diagnosis is usually based on typical anamnesis, clinical presentation, absence of specific laboratory changes and positive intradermal test. This syndrome should be considered in the differential diagnosis of purpura, especially in patients with psychiatric problems and without any coagulopathy. Herein, a case of 38 year-old-female who has recurrent ecchymoses on her legs, fatigue, headache and sleeping problems is presented.

[Athymhormic syndrome and progressive paraplegia disclosing adrenoleukomyeloneuropathy in an adult].

Science.gov (United States)

Brosset, C; Ceccaldi, M; Pierlovisi, F; Poncet, M

1995-01-01

A 40-year-old man presented with both paraparesia and an athymhormic syndrome. Bicapsular lesions together with abnormal evoked motor potentials suggested cortical and spinal involvement in the deficiency syndrome. The neuropsychologic symptoms appeared to be secondary to bilateral pallidium lesions. Associated signs were adrenoleukocystrophy and adrenomyeloneuropathy suggesting the term, adrenoleukocyeloneuropathy.

Crohn's Disease Associated with Sweet's Syndrome and Sjögren's Syndrome Treated with Infliximab

Directory of Open Access Journals (Sweden)

Erina N. Foster

2005-01-01

Full Text Available The association of Crohn's disease (CD and Sweet's syndrome is rare and the presence of Sjögren's syndrome in Crohn's disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn's disease associated with Sweet's syndrome, one of which is the first case of CD and Sweet's concomitantly associated with Sjögren's syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions.

Global low perfusion and latent ischemic lesions desclosed by PET and MRI in polycythermia hypertonica

International Nuclear Information System (INIS)

Harada, Kiyoshi; Kameyama, Masakuni; Akiguchi, Ichiro; Fukuyama, Hidenao; Nabatame, Hidehiko

1987-01-01

Polycythemia hypertonica was first reported by Geisboeck in 1905 (Geisboeck's syndrome), which has been well known to accompany a high risk for cerebrovascular disorders, and relatively poor prognosis. We performed PET and MRI study on two patients with Geisboeck's syndrome. In both cases, PET study revealed that there were no focal abnormalities in cerebral blood flow (CBF) and cerebral metabolic rate for oxygen (CMRO2), but global CBF and CMRO2 decreased to low levels. On MRI study, we also found multiple small ischemic lesions in the deep structures in the cerebral hemisphere as well as brain stem, which were considered to be coincided with the perfusion territories of perforating arteries. Many of the lesions revealed by MRI were not apparent on X-ray CT scan, and were asymptomatic clinically. We consider that global low perfusion and many small latent ischemic lesions are characteristic for Geisboeck's syndrome. Therefore, it is necessary to control high hematocrit values and hypertension from an early stage of the patients with Geisboeck's syndrome. (author)

Global low perfusion and latent ischemic lesions desclosed by PET and MRI in polycythemia hypertonica

Energy Technology Data Exchange (ETDEWEB)

Harada, K.; Kameyama, M.; Akiguchi, I.; Fukuyama, H.; Nabatame, H.

1987-04-01

Polycythemia hypertonica, first reported by Geisboeck in 1905 (Geisboeck's syndrome), has been known for an accompanying high risk of cerebrovascular disorders and relatively poor prognosis. We performed PET and MRI study on two patients with Geisboeck's syndrome. In both cases, PET study revealed that there were no focal abnormalities in cerebral blood flow (CBF) and cerebral metabolic rate for oxygen (CMRO/sub 2/), but global CBF and CMRO/sub 2/ decreased to low levels. On MRI study, we also found multiple small ischemic lesions in the deep structures in the cerebral hemisphere as well as brain stem, which were considered to be coincided with the perfusion territories of perforating arteries. Many of the lesions revealed by MRI were not apparent on X-ray CT scan, and were asymptomatic clinically. We consider that global low perfusion and many small latent ischemic lesions are characteristic of Geisboeck's syndrome. Therefore, it is necessary to control high hematocrit values and hypertension from an early stage of the patients with Geisboeck's syndrome.

Delusional misidentifications and duplications: right brain lesions, left brain delusions.

Science.gov (United States)

Devinsky, Orrin

2009-01-06

When the delusional misidentification syndromes reduplicative paramnesia and Capgras syndromes result from neurologic disease, lesions are usually bifrontal and/or right hemispheric. The related disorders of confabulation and anosognosis share overlapping mechanisms and anatomic pathology. A dual mechanism is postulated for the delusional misidentification syndromes: negative effects from right hemisphere and frontal lobe dysfunction as well as positive effects from release (i.e., overactivity) of preserved left hemisphere areas. Negative effects of right hemisphere injury impair self-monitoring, ego boundaries, and attaching emotional valence and familiarity to stimuli. The unchecked left hemisphere unleashes a creative narrator from the monitoring of self, memory, and reality by the frontal and right hemisphere areas, leading to excessive and false explanations. Further, the left hemisphere's cognitive style of categorization, often into dual categories, leads it to invent a duplicate or impostor to resolve conflicting information. Delusions result from right hemisphere lesions. But it is the left hemisphere that is deluded.

Noonan's Syndrome and Autoimmune Thyroiditis

Science.gov (United States)

Vesterhus, Per; Aarskog, Dagfinn

1973-01-01

Thyroid abnormalities were studies in seven boys and three girls, 4- to 17-years-old, with Noonan's syndrome, characterized by mental retardation, ocular anomalies (wide spaced eyes, drooped eye lids, or strabismus), heart lesions, characteristics of Turner's syndrome, and normal karyotypes (chromosome arrangement). (MC)

Churg-Strauss syndrome and hemorragic vasculitis

Directory of Open Access Journals (Sweden)

Rui Moreira Marques

2011-12-01

Full Text Available Churg-Strauss syndrome (CSS is a rare syndrome characterized by sinusitis, asthma and peripheral eosinophilia. This vasculitic syndrome affects medium and small-sized vessels, the lung being the most commonly affected organ, followed by the skin. The authors report a case of a 59-year-old male with a past history of asthma and allergic rhinitis. He presented necrohemorragic lesions in the distal phalanx of the 2nd, 3rd and 4th fingers of the lefthand and petechial lesions in the plant of both feet, accompanied by asthenia, anorexia and weight loss. The analytical study revealed leukocytosis with eosinophilia, elevated inflammatory parameters and p-ANCA positive antibodies. The diagnosis of CSS was established based on clinical and histopathological data. Cutaneous manifestations of hemorragic vasculitis are rare in CSS syndrome but can be the first manifestation of the disease. The recognition of this presentation is important for the early diagnosis and treatment of this syndrome.

Churg-Strauss syndrome and hemorrhagic vasculitis

Science.gov (United States)

Marques, Rui Moreira; Cabral, Ana Rita; Monteiro, Antonio; Henriques, Pedro

2011-01-01

Churg-Strauss syndrome (CSS) is a rare syndrome characterized by sinusitis, asthma and peripheral eosinophilia. This vasculitic syndrome affects medium and small-sized vessels, the lung being the most commonly affected organ, followed by the skin. The authors report a case of a 59-year-old male with a past history of asthma and allergic rhinitis. He presented necrohemorragic lesions in the distal phalanx of the 2nd, 3rd and 4th fingers of the left-hand and petechial lesions in the plant of both feet, accompanied by asthenia, anorexia and weight loss. The analytical study revealed leukocytosis with eosinophilia, elevated inflammatory parameters and p-ANCA positive antibodies. The diagnosis of CSS was established based on clinical and histopathological data. Cutaneous manifestations of hemorragic vasculitis are rare in CSS syndrome but can be the first manifestation of the disease. The recognition of this presentation is important for the early diagnosis and treatment of this syndrome. PMID:25386301

Possible Waardenburg syndrome with gastrointestinal anomalies.

OpenAIRE

Nutman, J; Steinherz, R; Sivan, Y; Goodman, R M

1986-01-01

We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one.

Hyperperfusion syndrome after carotid stent angioplasty

Energy Technology Data Exchange (ETDEWEB)

Grunwald, I.Q.; Politi, M.; Reith, W.; Krick, C.; Karp, K.; Zimmer, A.; Struffert, T.; Kuehn, A.L.; Papanagiotou, P. [University of the Saarland, Department for Interventional and Diagnostic Neuroradiology, Homburg (Germany); Roth, C.; Haass, A. [University of the Saarland, Clinic for Neurology, Homburg (Germany)

2009-03-15

This study assesses the incidence and causes of hyperperfusion syndrome occurring after carotid artery stenting (CAS). We retrospectively reviewed the clinical database of 417 consecutive patients who were treated with CAS in our department to identify patients who developed hyperperfusion syndrome and/or intracranial hemorrhage. Magnetic resonance imaging (MRI) including fluid-attenuated inversion recovery and diffusion-weighted imaging was performed before and after CAS in 269 cases. A Spearman's rho nonparametric correlation was performed to determine whether there was a correlation between the occurrence/development of hyperperfusion syndrome and the patient's age, degree of stenosis on the stented and contralateral side, risk factors such as diabetes, smoking, hypertension, adiposity, gender and fluoroscopy time, and mean area of postprocedural lesions as well as preexisting lesions. Significance was established at p < 0.05. Of the 417 carotid arteries stented and where MRI was also completed, we found hyperperfusion syndrome in 2.4% (ten cases). Patients who had preexisting brain lesions (previous or acute stroke) were at a higher risk of developing hyperperfusion syndrome (p = 0.022; Spearman's rho test). We could not validate any correlation with the other patient characteristics. Extensive microvascular disease may be a predictor of hyperperfusion syndrome after carotid stent placement. We believe that further studies are warranted to predict more accurately which patients are at greater risk of developing this often fatal complication. (orig.)

Magnetic resonance imaging of the claude syndrome

International Nuclear Information System (INIS)

Toshima, Hiroko; Miyajima, Masayuki; Kinoshita, Masanobu; Shimojou, Sadatomo; Miyahara, Tadashi

1988-01-01

A case of the Claude syndrome complicated by Parinaud's syndrome is reported. A 68-year-old male suddenly developed a diplopia and ataxic gait on June 16, 1985. On admission, he exhibited a right oculomotor palsy, an upward-gaze palsy, and left cerebellar ataxia. A brain CT was negative, but MRI performed on June 19 showed a low-intensity area in the left red nucleus of the midbrain on inversion recovery. The patient was thought to have a Claude syndrome due to an ischemic cerebral infarct. Since the first report, by Claude in 1912 of a case, with an unilateral oculomotor palsy and contralateral cerebellar ataxia, the lesions responsible for which were attributed to the red nucleus, many cases have been reported in the literature as the Claude syndrome or as a red-nucleus syndrome. In Japan 8 cases of the Claude syndrome have thus far been reported, but only one report refers to the CT findings of this syndrome. This is the first report to describe the MRI findings of a case of the Claude syndrome complicated with Parinaud's syndrome; a red-nucleus lesion of the homolateral midbrain has been clearly demonstrated. (author)

Magnetic resonance imaging of the claude syndrome

Energy Technology Data Exchange (ETDEWEB)

Toshima, Hiroko; Miyajima, Masayuki; Kinoshita, Masanobu; Shimojou, Sadatomo; Miyahara, Tadashi

1988-04-01

A case of the Claude syndrome complicated by Parinaud's syndrome is reported. A 68-year-old male suddenly developed a diplopia and ataxic gait on June 16, 1985. On admission, he exhibited a right oculomotor palsy, an upward-gaze palsy, and left cerebellar ataxia. A brain CT was negative, but MRI performed on June 19 showed a low-intensity area in the left red nucleus of the midbrain on inversion recovery. The patient was thought to have a Claude syndrome due to an ischemic cerebral infarct. Since the first report, by Claude in 1912 of a case, with an unilateral oculomotor palsy and contralateral cerebellar ataxia, the lesions responsible for which were attributed to the red nucleus, many cases have been reported in the literature as the Claude syndrome or as a red-nucleus syndrome. In Japan 8 cases of the Claude syndrome have thus far been reported, but only one report refers to the CT findings of this syndrome. This is the first report to describe the MRI findings of a case of the Claude syndrome complicated with Parinaud's syndrome; a red-nucleus lesion of the homolateral midbrain has been clearly demonstrated.

Comparing culprit lesions in ST-segment elevation and non-ST-segment elevation acute coronary syndrome with 64-slice multidetector computed tomography

Energy Technology Data Exchange (ETDEWEB)

Huang, W.-C. [School of Medicine, National Yang-Ming University, Taipei, Taiwan (China); Cardiovascular Medical Center, Kaohsiung Veterans General Hospital, No. 386, Dar-Chung First Road, Kaohsiung, Taiwan (China)], E-mail: w.c.huang@yahoo.com.tw; Liu, C.-P. [School of Medicine, National Yang-Ming University, Taipei, Taiwan (China); Cardiovascular Medical Center, Kaohsiung Veterans General Hospital, No. 386, Dar-Chung First Road, Kaohsiung, Taiwan (China)], E-mail: cpliu@isca.vghks.gov.tw; Wu, M.-T. [School of Medicine, National Yang-Ming University, Taipei, Taiwan (China); Department of Radiology, Kaohsiung Veterans General Hospital, No. 386, Dar-Chung First Road, Kaohsiung, Taiwan (China)], E-mail: wu.mingting@gmail.com; Mar, G.-Y. [Cardiovascular Medical Center, Kaohsiung Veterans General Hospital, No. 386, Dar-Chung First Road, Kaohsiung, Taiwan (China)], E-mail: gymar@isca.vghks.gov.tw; Lin, S.-K. [Cardiovascular Medical Center, Kaohsiung Veterans General Hospital, No. 386, Dar-Chung First Road, Kaohsiung, Taiwan (China)], E-mail: skyii89@yahoo.com.tw; Hsiao, S.-H. [Cardiovascular Medical Center, Kaohsiung Veterans General Hospital, No. 386, Dar-Chung First Road, Kaohsiung, Taiwan (China)], E-mail: a841120@ms3.hinet.net; Lin, S.-L. [School of Medicine, National Yang-Ming University, Taipei, Taiwan (China); Cardiovascular Medical Center, Kaohsiung Veterans General Hospital, No. 386, Dar-Chung First Road, Kaohsiung, Taiwan (China)], E-mail: sllin@isca.vghks.gov.tw; Chiou, K.-R. [School of Medicine, National Yang-Ming University, Taipei, Taiwan (China); Cardiovascular Medical Center, Kaohsiung Veterans General Hospital, No. 386, Dar-Chung First Road, Kaohsiung, Taiwan (China)], E-mail: krchiou@isca.vghks.gov.tw

2010-01-15

Background: Classifying acute coronary syndrome (ACS) as ST elevation ACS (STE-ACS) or non-ST elevation ACS (NSTE-ACS) is critical for clinical prognosis and therapeutic decision-making. Assessing the differences in composition and configuration of culprit lesions between STE-ACS and NSTE-ACS can clarify their pathophysiologic differences. Objective: This study focused on evaluating the ability of 64-slice multidetector computed tomography (MDCT) to investigate these differences in culprit lesions in patients with STE-ACS and NSTE-ACS. Methods: Of 161 ACS cases admitted, 120 who fit study criteria underwent MDCT and conventional coronary angiography. The following MDCT data were analyzed: calcium volume, Agatston calcium scores, plaque area, plaque burden, remodeling index, and plaque density. Results: The MDCT angiography had a good correlation with conventional coronary angiography regarding the stenotic severity of culprit lesions (r = 0.86, p < 0.001). The STE-ACS culprit lesions (n = 54) had significantly higher luminal area stenosis (78.6 {+-} 21.2% vs. 66.7 {+-} 23.9%, p = 0.006), larger plaque burden (0.91 {+-} 0.10 vs. 0.84 {+-} 0.12, p = 0.007) and remodeling index (1.28 {+-} 0.34 vs. 1.16 {+-} 0.22, p = 0.021) than those with NSTE-ACS (n = 66). The percentage of expanding remodeling index (remodeling index >1.05) was significantly higher in the STE-ACS group (81.5% vs. 63.6%, p = 0.031). The patients with STE-ACS had significantly lower MDCT density of culprit lesions than patients with NSTE-ACS (25.8 {+-} 13.9 HU vs. 43.5 {+-} 19.1 HU, p < 0.001). Conclusions: Sixty-four-slice MDCT can accurately evaluate the stenotic severity and composition of culprit lesions in selected patients with either STE-ACS or NSTE-ACS. Culprit lesions in NSTE-ACS patients had significantly lower luminal area stenosis, plaque burden, remodeling index and higher MDCT density, which possibly reflect differences in the composition of vulnerable culprit plaques and thrombi.

Possible Waardenburg syndrome with gastrointestinal anomalies.

Science.gov (United States)

Nutman, J; Steinherz, R; Sivan, Y; Goodman, R M

1986-01-01

We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one. Images PMID:3712396

Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions

DEFF Research Database (Denmark)

Zhou, J; Hertz, Jens Michael; Tryggvason, K

1992-01-01

A single base mutation was identified in the type IV collagen alpha 5 chain gene (COL4A5) of a Danish kindred with Alport syndrome. The 27-year-old male proband developed hematuria in childhood and terminal renal failure at the age of 25 years. He has no hearing loss or ocular lesions. Electron...... microscopy demonstrated splitting of the lamina densa of the glomerular basement membrane. The proband's mother has had persistent microscopic hematuria since the age of 40 years, but no other manifestations. Southern analysis of MspI-digested genomic DNA from the proband showed the absence of 1.3-kb and 0...

The neuroradiological findings in a case of Revesz syndrome

Energy Technology Data Exchange (ETDEWEB)

Scheinfeld, Meir H. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Montefiore Medical Center, Department of Radiology, Bronx, NY (United States); Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Kolb, Edward A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pediatrics, The Children' s Hospital at Montefiore, Bronx, NY (United States); Engel, Harry M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Ophthalmology, Bronx, NY (United States); Weidenheim, Karen M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pathology, Bronx, NY (United States)

2007-11-15

Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

The neuroradiological findings in a case of Revesz syndrome

International Nuclear Information System (INIS)

Scheinfeld, Meir H.; Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A.; Kolb, Edward A.; Engel, Harry M.; Weidenheim, Karen M.

2007-01-01

Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

Psychogenic Purpura (Gardner-Diamond Syndrome)

Science.gov (United States)

Bhattacharya, Gaurav

2015-01-01

Psychogenic purpura, also known as Gardner-Diamond syndrome or autoerythrocyte sensitization syndrome, is a rare condition characterized by spontaneous development of painful edematous skin lesions progressing to ecchymosis over the next 24 hours. Severe stress and emotional trauma always precede the skin lesions. The condition is most commonly seen in women, but isolated cases have been reported in adolescents and in males. Psychodermatologic evaluation and dermatology and psychiatry liaison have been successful in the treatment of these patients. This report provides an overview of psychogenic purpura and presents the case of a 15-year-old girl. PMID:26137346

[Tibial periostitis ("medial tibial stress syndrome")].

Science.gov (United States)

Fournier, Pierre-Etienne

2003-06-01

Medial tibial stress syndrome is characterised by complaints along the posteromedial tibia. Runners and athletes involved in jumping activities may develop this syndrome. Increased stress to stabilize the foot especially when excessive pronation is present explain the occurrence this lesion.

{sup 18}F-FDG PET/CT in POEMS syndrome

Energy Technology Data Exchange (ETDEWEB)

An, Young Sil; Yoon, Joon Kee; Hong, Seon Pyo; Joh, Chul Woo; Yoon, Seok Nam [Ajou University School of Medicine, Suwon (Korea, Republic of)

2007-02-15

POEMS syndrome is a rare disorder, also known as Crow-Fukase, PEP or Takatsuki syndrome. The acronym, POEMS, represents polyneuropathy, organomegaly, endocrinopathy, M protein and skin change. However, there are associated features not included in the acronym such as sclerotic bone lesions, Castleman disease, papilledema, thromobocytosis, peripheral edema, ascites, effusion, polycythemia, fatigue and clubbing. In most cases, osseous lesions in POEMS syndrome present as an isolated sclerotic deposit and that reveal as osteosclerotic myeloma. Several cases of {sup 18}F-FDG PET in multiple myeloma involvements were reported, but there was no previous literature that reported FDG PET findings in POEMS syndrome. We describe here a 66-year-old patient with POEMS syndrome who underwent {sup 18}F-FDG PET/CT image.

MR imaging of white matter lesions in AIDS

International Nuclear Information System (INIS)

Olsen, W.L.; Longo, F.; Norman, D.

1987-01-01

Autopsy reports have shown white-matter abnormalities from infection of the brain by the human immunodeficiency virus (HIV), the agent that causes acquired immunodeficiency syndrome (AIDS). The authors observed abnormal signal on T2-weighted images in the white matter of approximately one third of all AIDS patients. Of 50 patients with white-matter lesions, approximately two thirds had no clinical or biopsy evidence of cytomegalovirus, toxoplasmosis, PML, or lymphoma. Several patients were shown at autopsy to have isolated evidence of HIV encephalitis. The authors conclude that white-matter lesions are common in AIDS and are frequently caused by infection with HIV. Some MR findings may be helpful in characterizing these lesions, but the various etiologies are often indistinguishable

Degos' syndrome. Detection of intestinal lesion by digital subtraction angiography

International Nuclear Information System (INIS)

Bilbao, J.I.; Garcia Delgado, F.; Idoate, M.; Arejola, J.M.; Aquerreta, D.; Otero, M.

1986-01-01

Degos' syndrom consists in a generalized vasculitis with frequent affectation of the gut and the skin. The arteriographic findings in a patient with the diagnosis of Degos' syndroms and severe affectation of the gut are reported [fr

Premalignant Lesions in the Kidney

Directory of Open Access Journals (Sweden)

Ziva Kirkali

2001-01-01

Full Text Available Renal cell carcinoma (RCC is the most malignant urologic disease. Different lesions, such as dysplasia in the tubules adjacent to RCC, atypical hyperplasia in the cyst epithelium of von Hippel-Lindau syndrome, and adenoma have been described for a number of years as possible premalignant changes or precursor lesions of RCC. In two recent papers, kidneys adjacent to RCC or removed from other causes were analyzed, and dysplastic lesions were identified and defined in detail. Currently renal intraepithelial neoplasia (RIN is the proposed term for classification. The criteria for a lesion to be defined as premalignant are (1 morphological similarity; (2 spatial association; (3 development of microinvasive carcinoma; (4 higher frequency, severity, and extent then invasive carcinoma; (5 progression to invasive cancer; and (6 similar genetic alterations. RIN resembles the neoplastic cells of RCC. There is spatial association. Progression to invasive carcinoma is described in experimental cancer models, and in some human renal tumors. Similar molecular alterations are found in some putative premalignant changes. The treatment for RCC is radical or partial nephrectomy. Preneoplastic lesions may remain in the renal remnant in patients treated by partial nephrectomy and may be the source of local recurrences. RIN seems to be a biologic precursor of some RCCs and warrants further investigation. Interpretation and reporting of these lesions would reveal important resources for the biological nature and clinical significance. The management of RIN diagnosed in a renal biopsy and partial nephrectomy needs to be answered.

[PHACES syndrome].

Science.gov (United States)

Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

2010-04-01

PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

Antiphospholipid syndrome and kidney disease.

Science.gov (United States)

Bienaimé, Frank; Legendre, Christophe; Terzi, Fabiola; Canaud, Guillaume

2017-01-01

The antiphospholipid syndrome is a common autoimmune disease caused by pathogenic antiphospholipid antibodies, leading to recurrent thrombosis and/or obstetrical complications. Importantly for nephrologists, antiphospholipid antibodies are associated with various renal manifestations including large renal vessel thrombosis, renal artery stenosis, and a constellation of intrarenal lesions that has been termed antiphospholipid nephropathy. This last condition associates various degrees of acute thrombotic microangiopathy, proliferative and fibrotic lesions of the intrarenal vessels, and ischemic modifications of the renal parenchyma. The course of the disease can range from indolent nephropathy to devastating acute renal failure. The pejorative impact of antiphospholipid antibody-related renal complication is well established in the context of systemic lupus erythematous or after renal transplantation. In contrast, the exact significance of isolated antiphospholipid nephropathy remains uncertain. The evidence to guide management of the renal complications of antiphospholipid syndrome is limited. However, the recent recognition of the heterogeneous molecular mechanisms underlying the progression of intrarenal vascular lesions in antiphospholipid syndrome have opened promising tracks for patient monitoring and targeted therapeutic intervention. Copyright © 2016 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

Corpus callosum and neglect syndrome: Clinical findings after meningioma removal and anatomical review

Directory of Open Access Journals (Sweden)

David Gomes

2017-01-01

Full Text Available Two types of neglect are described: hemispatial and motivational neglect syndromes. Neglect syndrome is a neurophysiologic condition characterized by a malfunction in one hemisphere of the brain, resulting in contralateral hemispatial neglect in the absence of sensory loss and the right parietal lobe lesion being the most common anatomical site leading to it. In motivational neglect, the less emotional input is considered from the neglected side where anterior cingulate cortex harbors the most frequent lesions. Nevertheless, there are reports of injuries in the corpus callosum (CC causing hemispatial neglect syndrome, particularly located in the splenium. It is essential for a neurosurgeon to recognize this clinical syndrome as it can be either a primary manifestation of neurosurgical pathology (tumor, vascular lesion or as a postoperative iatrogenic clinical finding. The authors report a postoperative hemispatial neglect syndrome after a falcotentorial meningioma removal that recovered 10 months after surgery and performs a clinical, anatomical, and histological review centered in CC as key agent in neglect syndrome.

Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with retinitis pigmentosa and usher syndrome.

Science.gov (United States)

Genead, Mohamed A; Fishman, Gerald A

2010-09-01

To determine the efficacy of sustained topical therapy with dorzolamide hydrochloride, 2%, on visual acuity and cystic macular lesions in patients with retinitis pigmentosa and Usher syndrome. In a retrospective case series at a university hospital, 64 eyes of 32 patients with retinitis pigmentosa or Usher syndrome receiving treatment with the topical dorzolamide formulation for 6 to 58 months were enrolled. Changes in visual acuity on the Early Treatment Diabetic Retinopathy Study chart and central foveal zone thickness on optical coherence tomography were measured during follow-up for the duration of treatment. Among the study cohort, 20 of 32 patients (63%) showed a positive response to treatment in at least 1 eye and 13 patients (41%) showed a positive response in both eyes. Four patients (20%) showed an initial response and a subsequent rebound of macular cysts. In 8 patients (25%), there was no response to treatment and the macular cysts worsened when compared with the pretreatment level. Ten patients (31%) had improvement in visual acuity by 7 or more letters in at least 1 eye at the most recent follow-up visit. Sixteen patients (67%) showed a reduction of more than 11% in the central foveal zone thickness in at least 1 eye when compared with the pretreatment level. Patients with either retinitis pigmentosa or Usher syndrome who received treatment of cystoid macular edema with topical dorzolamide followed by an optical coherence tomography-guided strategy showed a decrease in central foveal zone thickness in most cases. Visual acuity improved in almost one-third of the cases, suggesting a potential corresponding visual benefit.

Bilateral Anterior Opercular Syndrome With Partial Kluver?Bucy Syndrome in a Stroke Patient: A Case Report

OpenAIRE

Cho, Ah-Ra; Lim, Young-Ho; Chung, Sae-Hoon; Choi, Eun-Hi; Lim, Jong Youb

2016-01-01

Bilateral anterior opercular syndrome and partial Kluver?Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersex...

MELAS syndrome: neuroradiological findings

International Nuclear Information System (INIS)

Cano, A.; Romero, A. I.; Bravo, F.; Vida, J. M.; Espejo, S.

2002-01-01

To assess the computed tomography (CT) and magnetic resonance (MR) findings in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) and their contribution to the diagnosis of this entity. We present three patients in which a diagnosis of MELAS syndrome was confirmed by muscle biopsy. CT revealed pathological findings in two patients: bilateral calcifications in the basal nuclei in one and low-attenuation lesions in occipital lobes in the other. Initial or follow-up MR demonstrated pathological findings highly suggestive of MELAS syndrome in all the patients. They consisted of hyperintense lesions in T2-weighted images, located predominantly in the cortex of occipital and parietal lobes. Cerebellar atrophy was also observed in two patients. The clinical signs varied, but epileptic seizures, headache, vomiting, ataxia, muscle weakness and pyramidal involvement were among the major ones. Only one patient presented high lactic acid levels, and in two, the initial muscle biopsy was not conclusive enough to provide the definitive diagnosis. CT and, especially, MR are useful tools in the diagnosis of MELAS syndrome, particularly in those cases in which initial negative laboratory and histological results make diagnosis difficult. (Author) 21 refs

Reversible posterior leukoencephalopathy syndrome

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Lee, Eun Ja; Yu, Won Jong; Ahn, Kook Jin; Jung, So Lyung; Lee, Yeon Soo; Kim, Ji Chang; Kang, Si Won [The Catholic Univ. of Korea, Taejon (Korea, Republic of); Song, Chang Joon [Chungnam National Univ. School of Medicine, Cheonju (Korea, Republic of); Song, Soon-Young; Koo, Ja Hong [Kwandong Univ. College of Medicine, Myungji Hospital, Seoul (Korea, Republic of); Kim, Man Deuk [College of Medicine Pochon CHA Univ., Seoul (Korea, Republic of)

2001-10-01

To review reversible posterior leukoencephalopathy syndrome. We reviewed 22 patients (M:F=3:19; age, 17-46 years) with the characteristic clinical and imaging features of reversible posterior leukoencephalopathy syndrome. All underwent brain MRI, and in three cases both CT and MRI were performed. In one, MRA was obtained, and in eleven, follow-up MR images were obtained. We evaluated the causes of this syndrome, its clinical manifestations, and MR findings including the locations of lesions, the presence or absence of contrast enhancement, and the changes seen at follow-up MRI. Of the 22 patients, 13 had eclampsia (six during pregnancy and seven during puerperium). Four were receiving immunosuppressive therapy (three, cyclosporine ; one, FK 506). Four suffered renal failure and one had complicated migraine. The clinical manifestations included headache (n=12), visual disturbance (n=13), seizure (n=15), focal neurologic sign (n=3), and altered mental status (n=2). Fifteen patients had hypertension and the others normotension. MRI revealed that lesions were bilateral (n=20) or unilateral (n=2). In all patients the lesion was found in the cortical and subcortical areas of the parieto-occipital lobes ; other locations were the basal ganglia (n=9), posterior temporal lobe (n=8), frontal lobe (n=5), cerebellum (n=5), pons (n=2), and thalamus (n=1). All lesions were of high signal intensity on T2-weighted images, and of iso to low intensity on T1-weighted images. One was combined with acute hematoma in the left basal ganglia. In eight of 11 patients who underwent postcontrast T1-weighted MRI, there was no definite enhancement ; in one, enhancement was mild, and in tow, patchy. CT studies showed low attenuation, and MRA revealed mild vasospasm. The symptoms of all patients improved. Follow-up MRI in nine of 11 patients depicted complete resolution of the lesions ; in two, small infarctions remained but the extent of the lesions had decreased. Reversible posterior

Reversible posterior leukoencephalopathy syndrome

International Nuclear Information System (INIS)

Lee, Eun Ja; Yu, Won Jong; Ahn, Kook Jin; Jung, So Lyung; Lee, Yeon Soo; Kim, Ji Chang; Kang, Si Won; Song, Chang Joon; Song, Soon-Young; Koo, Ja Hong; Kim, Man Deuk

2001-01-01

To review reversible posterior leukoencephalopathy syndrome. We reviewed 22 patients (M:F=3:19; age, 17-46 years) with the characteristic clinical and imaging features of reversible posterior leukoencephalopathy syndrome. All underwent brain MRI, and in three cases both CT and MRI were performed. In one, MRA was obtained, and in eleven, follow-up MR images were obtained. We evaluated the causes of this syndrome, its clinical manifestations, and MR findings including the locations of lesions, the presence or absence of contrast enhancement, and the changes seen at follow-up MRI. Of the 22 patients, 13 had eclampsia (six during pregnancy and seven during puerperium). Four were receiving immunosuppressive therapy (three, cyclosporine ; one, FK 506). Four suffered renal failure and one had complicated migraine. The clinical manifestations included headache (n=12), visual disturbance (n=13), seizure (n=15), focal neurologic sign (n=3), and altered mental status (n=2). Fifteen patients had hypertension and the others normotension. MRI revealed that lesions were bilateral (n=20) or unilateral (n=2). In all patients the lesion was found in the cortical and subcortical areas of the parieto-occipital lobes ; other locations were the basal ganglia (n=9), posterior temporal lobe (n=8), frontal lobe (n=5), cerebellum (n=5), pons (n=2), and thalamus (n=1). All lesions were of high signal intensity on T2-weighted images, and of iso to low intensity on T1-weighted images. One was combined with acute hematoma in the left basal ganglia. In eight of 11 patients who underwent postcontrast T1-weighted MRI, there was no definite enhancement ; in one, enhancement was mild, and in tow, patchy. CT studies showed low attenuation, and MRA revealed mild vasospasm. The symptoms of all patients improved. Follow-up MRI in nine of 11 patients depicted complete resolution of the lesions ; in two, small infarctions remained but the extent of the lesions had decreased. Reversible posterior

Gorlin-goltz syndrome: a rare case.

Science.gov (United States)

Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, P K

2015-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Gorlin-Goltz Syndrome: A Rare Case

OpenAIRE

Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, PK

2015-01-01

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

Animal model of neuropathic tachycardia syndrome

Science.gov (United States)

Carson, R. P.; Appalsamy, M.; Diedrich, A.; Davis, T. L.; Robertson, D.

2001-01-01

Clinically relevant autonomic dysfunction can result from either complete or partial loss of sympathetic outflow to effector organs. Reported animal models of autonomic neuropathy have aimed to achieve complete lesions of sympathetic nerves, but incomplete lesions might be more relevant to certain clinical entities. We hypothesized that loss of sympathetic innervation would result in a predicted decrease in arterial pressure and a compensatory increase in heart rate. Increased heart rate due to loss of sympathetic innervation is seemingly paradoxical, but it provides a mechanistic explanation for clinical autonomic syndromes such as neuropathic postural tachycardia syndrome. Partially dysautonomic animals were generated by selectively lesioning postganglionic sympathetic neurons with 150 mg/kg 6-hydroxydopamine hydrobromide in male Sprague-Dawley rats. Blood pressure and heart rate were monitored using radiotelemetry. Systolic blood pressure decreased within hours postlesion (Delta>20 mm Hg). Within 4 days postlesion, heart rate rose and remained elevated above control levels. The severity of the lesion was determined functionally and pharmacologically by spectral analysis and responsiveness to tyramine. Low-frequency spectral power of systolic blood pressure was reduced postlesion and correlated with the diminished tyramine responsiveness (r=0.9572, P=0.0053). The tachycardia was abolished by treatment with the beta-antagonist propranolol, demonstrating that it was mediated by catecholamines acting on cardiac beta-receptors. Partial lesions of the autonomic nervous system have been hypothesized to underlie many disorders, including neuropathic postural tachycardia syndrome. This animal model may help us better understand the pathophysiology of autonomic dysfunction and lead to development of therapeutic interventions.

Syndrome in question: Gorlin-Goltz syndrome.

Science.gov (United States)

Ribeiro, Pauline Lyrio; Souza, João Basílio de; Abreu, Karina Demoner de; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

2016-01-01

The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

Usefulness of Beta2-Microglobulin as a Predictor of All-Cause and Nonculprit Lesion-Related Cardiovascular Events in Acute Coronary Syndromes (from the PROSPECT Study).

Science.gov (United States)

Möckel, Martin; Muller, Reinhold; Searle, Julia; Slagman, Anna; De Bruyne, Bernard; Serruys, Patrick; Weisz, Giora; Xu, Ke; Holert, Fabian; Müller, Christian; Maehara, Akiko; Stone, Gregg W

2015-10-01

In the Providing Regional Observations to Study Predictors of Events in the Coronary Tree (PROSPECT) study, plaque burden, plaque composition, and minimal luminal area were associated with an increased risk of adverse cardiovascular events arising from untreated atherosclerotic lesions (vulnerable plaques) in patients with acute coronary syndromes (ACS). We sought to evaluate the utility of biomarker profiling and clinical risk factors to predict 3-year all-cause and nonculprit lesion-related major adverse cardiac events (MACEs). Of 697 patients who underwent successful percutaneous coronary intervention (PCI) for ACS, an array of 28 baseline biomarkers was analyzed. Median follow-up was 3.4 years. Beta2-microglobulin displayed the strongest predictive power of all variables assessed for all-cause and nonculprit lesion-related MACE. In a classification and regression tree analysis, patients with beta2-microglobulin >1.92 mg/L had an estimated 28.7% 3-year incidence of all-cause MACE; C-peptide 1.92 mg/L identified a cohort with a 3-year rate of 18.5%, and C-peptide PROSPECT study, beta2-microglobulin strongly predicted all-cause and nonculprit lesion-related MACE within 3 years after PCI in ACS. C-peptide and HDL provided further risk stratification to identify angiographically mild nonculprit lesions prone to future MACE. Copyright © 2015 Elsevier Inc. All rights reserved.

Mycobacterium shigaense Causes Lymph Node and Cutaneous Lesions as Immune Reconstitution Syndrome in an AIDS Patient: The Third Case Report of a Novel Strain Non-tuberculous Mycobacterium

Science.gov (United States)

Koizumi, Yusuke; Shimizu, Kaoru; Shigeta, Masayo; Minamiguchi, Hitoshi; Hodohara, Keiko; Andoh, Akira; Tanaka, Toshihide; Chikamatsu, Kinuyo; Mitarai, Satoshi; Mikamo, Hiroshige

2016-01-01

A 40-year-old man complaining of progressive body weight loss was diagnosed to have acquired immunodeficiency syndrome. Within 2 weeks after the initiation of combination antiretroviral therapy, he developed fever, massive cervical lymphadenopathy and a protruding subcutaneous abscess. A lymph node biopsy and abscess drainage revealed non-caseous granuloma and mycobacterium. The mycobacterium belonged to Runyon II group, but it showed no matches to any previously reported species. According to sequence analyses, the strain was identified as Mycobacterium shigaense. After six months of antimycobacterial treatment, the lesions were all successfully cured. This is the third case report of the novel mycobacterium, M. shigaense, presenting in associatioin with immune reconstitution syndrome. PMID:27853087

Successful treatment of myelodysplastic syndrome-induced pyoderma gangrenosum.

Science.gov (United States)

Koca, E; Duman, A E; Cetiner, D; Buyukasik, Y; Haznedaroglu, I C; Uner, A; Demirhan, B; Kerimoglu, U; Barista, I; Calguneri, M; Ozcebe, O I

2006-12-01

We report successful treatment of a refractory myelodysplastic syndrome-associated pyoderma gangrenosum with the combination of thalidomide and interferon-alpha2a in a single patient. A non-healing wound developed on a 40-year-old woman's left thumb after minor trauma. Massive ulcerovegetative lesions developed after reconstruction surgery. Histopathological examination of the bone marrow and cytogenetic studies revealed an atypical myeloproliferative/myelodysplastic syndrome. The skin lesions resolved dramatically after two months of thalidomide and interferon-alpha2a combination therapy and the haematological status improved.

Sciatic nerve tumor and tumor-like lesions - uncommon pathologies

Energy Technology Data Exchange (ETDEWEB)

Wadhwa, Vibhor; Thakkar, Rashmi S.; Carrino, John A.; Chhabra, Avneesh [Johns Hopkins University School of Medicine, Russell H. Morgan Department of Radiology and Radiological Science, Baltimore, MD (United States); Maragakis, Nicholas; Hoeke, Ahmet; Sumner, Charlotte J.; Lloyd, Thomas E. [Johns Hopkins University School of Medicine, Department of Neurology, Baltimore, MD (United States); Belzberg, Allan J. [Johns Hopkins University School of Medicine, Department of Neurosurgery, Baltimore, MD (United States)

2012-07-15

Sciatic nerve mass-like enlargement caused by peripheral nerve sheath tumors or neurocutaneous syndromes such as neurofibromatosis or schwannomatosis has been widely reported. Other causes of enlargement, such as from perineuroma, fibromatosis, neurolymphoma, amyloidosis, endometriosis, intraneural ganglion cyst, Charcot-Marie-Tooth disease, and chronic inflammatory demyelinating polyneuropathy are relatively rare. High-resolution magnetic resonance imaging (MRI) is an excellent non-invasive tool for the evaluation of such lesions. In this article, the authors discuss normal anatomy of the sciatic nerve and MRI findings of the above-mentioned lesions. (orig.)

A Case of Classic Raymond Syndrome

Directory of Open Access Journals (Sweden)

Nicholas George Zaorsky

2012-01-01

Full Text Available Classic Raymond syndrome consists of ipsilateral abducens impairment, contralateral central facial paresis, and contralateral hemiparesis. However, subsequent clinical observations argued on the presentation of facial involvement. To validate this entity, we present a case of classic Raymond syndrome with contralateral facial paresis. A 50 year-old man experienced acute onset of horizontal diplopia, left mouth drooling and left-sided weakness. Neurological examination showed he had right abducens nerve palsy, left-sided paresis of the lower part of the face and limbs, and left hyperreflexia. A brain MRI showed a subacute infarct in the right mid-pons. The findings were consistent with those of classic Raymond syndrome. To date, only a few cases of Raymond syndrome, commonly without facial involvement, have been reported. Our case is a validation of classic Raymond syndrome with contralateral facial paresis. We propose the concept of two types of Raymond syndrome: (1 the classic type, which may be produced by a lesion in the mid-pons involving the ipsilateral abducens fascicle and undecussated corticofacial and corticospinal fibers; and (2 the common type, which may be produced by a lesion involving the ipsilateral abducens fascicle and undecussated corticospinal fibers but sparing the corticofacial fibers.

Diogenes Syndrome: A Case Report

Directory of Open Access Journals (Sweden)

Projna Biswas

2013-01-01

Full Text Available Cessation of normal skin cleansing seen in geriatric or self-neglected patients can cause accumulation of keratinous crusts on the skin. In the extreme end of this spectrum is a condition known as Diogenes syndrome (DS. These patients may have psychiatric disorders like paranoid disorders, mood affection, or temporofrontal dementia. Subjects are mainly the elderly but few cases in younger age group of patients have also been reported. Lesions of DS are usually found over upper central chest, back, and groin. In the young, lesions are mainly found over scalp, face, or arms. Absence of normal skin cleaning causes keratin and dirty debris to accumulate and with time form a thick shell. These debris can be secondarily infected by bacteria, fungus, and so forth. These skin lesions are not usually seen in individual with proper hygiene. We report a case of Diogenes syndrome in a 34-year-old young male patient who had associated schizophrenia.

Fenton's syndrome

International Nuclear Information System (INIS)

Rimondi, E.; Albasini, V.

1989-01-01

The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

Joubert syndrome

International Nuclear Information System (INIS)

Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

1998-01-01

Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

Breast Cancer in Cowden Syndrome: A Case Report

International Nuclear Information System (INIS)

Jung, Mi Hee

2009-01-01

Cowden syndrome is rare condition with characteristic multiple hamartoma and mucocutaneous lesions. It is important for radiologists to be aware of Cowden syndrome because the patients with this disease have an increased risk for the occurrence of breast cancer. We report here on a case of invasive breast cancer in a 36-year-old female patient with Cowden syndrome

Gorlin-Goltz syndrome: A rare case

Directory of Open Access Journals (Sweden)

Satyaki Ganguly

2015-01-01

Full Text Available Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

"DK Crush" Technique for a Tightly Stenosed Conjoined SVG Lesion in a Patient with Acute Coronary Syndrome and Cardiogenic Shock.

Science.gov (United States)

Chen, Kuan-Ju; Lee, Wen-Lieng; Liu, Tsun-Jui; Chang, Wei-Chun; Wang, Kuo-Yang; Su, Chieh-Shou

2015-05-01

Coronary artery bifurcation disease of saphenous venous graft (SVG) is extremely rare. SVG disease remains a challenging lesion to treat because of increased morbidity and mortality with repeated coronary artery bypass graft surgery (CABG), high rates of periprocedural complications, and in-stent restenosis or occlusion requiring repeat revascularization with percutaneous coronary intervention. Herein, we present the first reported case of using the "DK crush" technique to treat an inverted Y-shaped SVG bifurcation disease in a patient with a prior CABG and new-onset acute coronary syndrome. Arising from our treatment, favorable immediate and mid-term angiographic and clinical outcomes were obtained. Coronary artery bypass surgery (CABG); "DK crush" technique; Saphenous venous graft (SVG).

Cerebrofacial venous metameric syndrome (CVMS) 3: Sturge-Weber syndrome with bilateral lymphatic/venous malformations of the mandible

International Nuclear Information System (INIS)

Ramli, N.; Sachet, M.; Bao, C.; Lasjaunias, P.

2003-01-01

We present a case of Sturge-Weber syndrome with a bilateral lymphatic/venous malformation of the mandible. Modern biology suggests an explanation for such a case. The classification of cerebrofacial venous metameric syndromes (CVMS) enables us to recognise this lesion as involving the most caudal of the cranial metamere (CVMS 3). (orig.)

Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations (I): catastrophic APS, APS nephropathy and heart valve lesions.

Science.gov (United States)

Cervera, R; Tektonidou, M G; Espinosa, G; Cabral, A R; González, E B; Erkan, D; Vadya, S; Adrogué, H E; Solomon, M; Zandman-Goddard, G; Shoenfeld, Y

2011-02-01

The objectives of the 'Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations' were to assess the clinical utility of the international consensus statement on classification criteria and treatment guidelines for the catastrophic APS, to identify and grade the studies that analyse the relationship between the antiphospholipid antibodies and the non-criteria APS manifestations and to present the current evidence regarding the accuracy of these non-criteria APS manifestations for the detection of patients with APS. This article summarizes the studies analysed on the catastrophic APS, APS nephropathy and heart valve lesions, and presents the recommendations elaborated by the Task Force after this analysis.

MR imaging findings of anterior interosseous nerve lesions

Energy Technology Data Exchange (ETDEWEB)

Dunn, Andrew J. [Royal Liverpool University Hospital, Department of Medical Imaging, Liverpool (United Kingdom); Salonen, David C. [University of Toronto, Toronto Western Hospital, Department of Medical Imaging, Toronto, Ontario (Canada); Anastakis, Dimitri J. [University of Toronto, Toronto Western Hospital, Division of Plastic Surgery, Toronto, Ontario (Canada)

2007-12-15

To study and characterise the MR imaging findings of lesions of the anterior interosseous nerve (AIN). Magnetic resonance imaging (MRI) findings of the forearm of ten patients referred to our institution with suspected AIN lesions were retrospectively studied. Five healthy volunteers with normal forearm MRI findings formed a control group. Two musculoskeletal radiologists assessed the forearm musculature for oedema in the distribution of the AIN, median, posterior interosseous and radial nerves on T2-weighted (T2W) fat-saturated sequences. T1-weighted (T1W) images were assessed and graded for the presence of muscle atrophy and fatty involution. Six patients had undergone surgical exploration; five of these had surgically confirmed AIN compression. Four patients had diagnoses other than AIN compression made on imaging features. Of the cases of proven AIN compression, oedema within the pronator quadratus (PQ) muscle was identified in all cases. PQ atrophy and fatty involution were seen in three (43%) surgically confirmed cases. Cases 2 and 3 also demonstrated oedema in the flexor digitorum profundus (FDP)1 and FDP2 muscles. These cases also showed oedema in the flexor-carpi radialis (FCR) and FDP3/FDP4 muscles, respectively. The four cases of non-AIN compression demonstrated muscle oedema patterns that were atypical for the AIN distribution. They included a rupture of the flexor pollicis longus (FPL) tendon, brachial neuritis, amyotrophic lateral sclerosis and compression of the proximal median nerve. MRI is a useful investigation in the diagnostic workup of AIN syndrome. AIN syndrome is likely when there is diffuse oedema of AIN innervated muscles on T2W fat-saturated images. The most reliable sign of an AIN lesion is oedema within the PQ. Oedema in the flexor carpi radialis, FDP3 and FDP4, although not in the classical distribution of the AIN, does not preclude the diagnosis of AIN syndrome. (orig.)

MR imaging findings of anterior interosseous nerve lesions

International Nuclear Information System (INIS)

Dunn, Andrew J.; Salonen, David C.; Anastakis, Dimitri J.

2007-01-01

To study and characterise the MR imaging findings of lesions of the anterior interosseous nerve (AIN). Magnetic resonance imaging (MRI) findings of the forearm of ten patients referred to our institution with suspected AIN lesions were retrospectively studied. Five healthy volunteers with normal forearm MRI findings formed a control group. Two musculoskeletal radiologists assessed the forearm musculature for oedema in the distribution of the AIN, median, posterior interosseous and radial nerves on T2-weighted (T2W) fat-saturated sequences. T1-weighted (T1W) images were assessed and graded for the presence of muscle atrophy and fatty involution. Six patients had undergone surgical exploration; five of these had surgically confirmed AIN compression. Four patients had diagnoses other than AIN compression made on imaging features. Of the cases of proven AIN compression, oedema within the pronator quadratus (PQ) muscle was identified in all cases. PQ atrophy and fatty involution were seen in three (43%) surgically confirmed cases. Cases 2 and 3 also demonstrated oedema in the flexor digitorum profundus (FDP)1 and FDP2 muscles. These cases also showed oedema in the flexor-carpi radialis (FCR) and FDP3/FDP4 muscles, respectively. The four cases of non-AIN compression demonstrated muscle oedema patterns that were atypical for the AIN distribution. They included a rupture of the flexor pollicis longus (FPL) tendon, brachial neuritis, amyotrophic lateral sclerosis and compression of the proximal median nerve. MRI is a useful investigation in the diagnostic workup of AIN syndrome. AIN syndrome is likely when there is diffuse oedema of AIN innervated muscles on T2W fat-saturated images. The most reliable sign of an AIN lesion is oedema within the PQ. Oedema in the flexor carpi radialis, FDP3 and FDP4, although not in the classical distribution of the AIN, does not preclude the diagnosis of AIN syndrome. (orig.)

Progression of CT scan findings in Rett syndrome

Energy Technology Data Exchange (ETDEWEB)

Suzuki, Hisaharu; Hirayama, Yoshito; Sakuragawa, Norio; Arima, Masataka (National Center of Neurology and Psychiatry, Kodaira, Tokyo (Japan))

1989-07-01

Progression of the lesions revealed by CT scan was observed in five girls with Rett syndrome. The most distinct and common finding was progressive dilatation of Sylvian fissures, frontal extracerebral space, interhemispheric fissure, and sulci mainly in frontal lobe. It may indicate progressive lesion in the frontal and the temporal lobes. In addition, dilatation of the anterior horns of the lateral ventricles and the third ventricle was noted in some cases. Brainstem and cerebellum were small at any age with some morphological development as the patients became elder. Neither malformations nor abnormalities in density were found in any case. It is concluded that the main lesion of Rett syndrome on CT scan is progressive and localized in the frontal and the temporal lobes. (author).

Diffusion-weighted imaging as a problem-solving tool in the evaluation of patients with acute strokelike syndromes.

Science.gov (United States)

Schaefer, P W

2000-10-01

This article addresses syndromes that clinically and/or radiologically resemble acute stroke. These syndromes generally fall into four categories. (1) Patients with acute neurological deficits with nonischemic lesions and no acute abnormality on diffusion-weighted images. These patients may have peripheral vertigo, migraines, seizures, dementia, functional disorders, amyloid angiopathy, or metabolic disorders. When these patients present, we can confidently predict that they are not undergoing infarction. (2) Patients with ischemic lesions with reversible clinical deficits. Nearly 50% of patients with transient ischemic attacks have lesions with restricted diffusion. Patients with transient global amnesia may have punctate lesions with restricted diffusion in the medial hippocampus, parahippocampal gyms, and corpus callosum. (3) Vasogenic edema syndromes that may mimic acute infarction clinically and on conventional imaging. These include eclampsia/hypertensive encephalopathy, other posterior leukoencephalopathies, human immunodeficiency virus encephalopathy, hyperperfusion syndrome following carotid endarterectomy, venous sinus thrombosis, acute demyelination, and neoplasm. These syndromes demonstrate elevated diffusion rather than the restricted diffusion associated with acute ischemic stroke. (4) Entities in which restricted diffusion may resemble acute infarction. These include pyogenic infections, herpes virus encephalitis, Creutzfeldt-Jakob disease, diffuse axonal injury, tumors with dense cell packing, and rare acute demyelinative lesions.

The Rare Painful Phenomena - Chronic Paroxysmal Hemicrania-tic Syndrome as a Clinically Isolated Syndrome of the Central Nervous System.

Science.gov (United States)

Ljubisavljevic, Srdjan; Prazic, Ana; Lazarevic, Miodrag; Stojanov, Dragan; Savic, Dejan; Vojinovic, Slobadan

2017-02-01

The association of paroxysmal hemicrania with trigeminal neuralgia (TN) has been described and called paroxysmal hemicrania-tic syndrome (PH-tic). We report the case of a patient diagnosed as having chronic PH-tic (CPH-tic) syndrome as a clinically isolated syndrome of the central nervous system (CNS) (CIS).A forty year old woman was admitted to our hospital suffering from right facial pain for the last 2 years. The attacks were paroxysmal, neuralgiform, consisting of throb-like sensations, which developed spontaneously or were triggered by different stimuli in right facial (maxilar and mandibular) areas. Parallel with those, she felt a throbbing orbital and frontal pain with homolateral autonomic symptoms such as conjunctival injection, lacrimation, and the feeling that the ear on the same side was full. This pain lasted most often between 15 and 20 minutes. Beyond hemifacial hypoesthesia in the region of right maxilar and mandibular nerve, the other neurological finding was normal. Magnetic resonance imaging (MRI) study showed a T2-weighted multiple hyperintense paraventricular lesion and hyperintense lesion in the right trigeminal main sensory nucleus and root inlet, all of them being hypointense on T1-weighted image. All of these lesions were hypointense in gadolinium-enhanced T1-weighted images. Neurophysiological studies of trigeminal nerve (somatosensory evoked potentials and blink reflex) correlated with MRI described lesions. The patient's pain bouts were improved immediately after treatment with indomethacin, and were completely relieved with lamotrigine for a longer period. According to the actual McDonald's criteria, clinical state was defined as CIS which was clinically presented by CPH-tic syndrome.Even though it is a clinical rarity and its etiology is usually idiopathic, CPH-tic syndrome can also be symptomatic. When dealing with symptomatic cases, like the one described here, when causal therapy is not possible due to the nature of the primary

Non-syndromic multiple odontogenic keratocysts associated with dental anomalies: A report of unusual case and its management

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Sulabha A Narsapur

2015-01-01

Full Text Available Odontogenic keratocyst (OKC, now known as keratocystic odontogenic tumor (KCOT, is the most common cystic lesion occurring in the maxillofacial region. Multiple occurrence of these cysts is less frequent and is usually associated with syndromes, the most common being the Gorlin Goltz syndrome or the nevoid basal cell carcinoma syndrome (NBCCS. We hereby report an unusual case of multiple OKCs in a healthy adult, associated with other dental anomalies. Management approach consisted of enucleation with curettage of the smaller lesions and decortication of buccal cortex in the large lesion. The condition in the present case may be because of the multifocal nature of OKC rather than its association with any syndrome. Concomitant occurrence of multiple OKCs with other dental anomalies may be coincidental. Impacted teeth or missing teeth must be radiographed to rule out the lesions associated with them.

Global aphasia without hemiparesis: language profiles and lesion distribution

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Hanlon, R.; Lux, W.; Dromerick, A.

1999-01-01

OBJECTIVES—Global aphasia without hemiparesis (GAWH) is an uncommon stroke syndrome involving receptive and expressive language impairment, without the hemiparesis typically manifested by patients with global aphasia after large left perisylvian lesions. A few cases of GAWH have been reported with conflicting conclusions regarding pathogenesis, lesion localisation, and recovery. The current study was conducted to attempt to clarify these issues.
METHODS—Ten cases of GAWH were prospectively studied with language profiles and lesion analysis; five patients had multiple lesions, four patients had a single lesion, and one had a subarachnoid haemorrhage. Eight patients met criteria for cardioembolic ischaemic stroke.
RESULTS—Cluster analysis based on acute language profiles disclosed three subtypes of patients with GAWH; these clusters persisted on follow up language assessment. Each cluster evolved into a different aphasia subtype: persistent GAWH, Wernicke's aphasia, or transcortical motor aphasia (TCM). Composite lesion analysis showed that persistent GAWH was related to lesioning of the left superior temporal gyrus. Patients with acute GAWH who evolved into TCM type aphasia had common lesioning of the left inferior frontal gyrus and adjacent subcortical white matter. Patients with acute GAWH who evolved into Wernicke's type aphasia were characterised by lesioning of the left precentral and postcentral gyri. Recovery of language was poor in all but one patient.
CONCLUSIONS—Although patients with acute GAWH are similar on neurological examination, they are heterogeneous with respect to early aphasia profile, language recovery, and lesion profile.

 PMID:10084536

Cognitive impairment, clinical severity and MRI changes in MELAS syndrome.

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Kraya, Torsten; Neumann, Lena; Paelecke-Habermann, Yvonne; Deschauer, Marcus; Stoevesandt, Dietrich; Zierz, Stephan; Watzke, Stefan

2017-12-29

To examine clinical severity, cognitive impairment, and MRI changes in patients with MELAS syndrome. Cognitive-mnestic functions, brain MRI (lesion load, cella media index) and clinical severity of ten patients with MELAS syndrome were examined. All patients carried the m.3243A>G mutation. The detailed neuropsychological assessment revealed cognitive deficits in attention, executive function, visuoperception, and -construction. There were significant correlations between these cognitive changes, lesion load in MRI, disturbances in everyday life (clinical scale), and high scores in NMDAS. Patients with MELAS syndrome showed no global neuropsychological deficit, but rather distinct cognitive deficits. Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

MRI of anterior spinal artery syndrome of the cervical spinal cord

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Takahashi, S. (Dept. of Radiology, Tohoku Univ. School of Medicine, Sendai (Japan)); Yamada, T. (Dept. of Radiology, Tohoku Univ. School of Medicine, Sendai (Japan)); Ishii, K. (Dept. of Radiology, Tohoku Univ. School of Medicine, Sendai (Japan)); Saito, H. (Dept. of Neurology, Tohoku Univ. School of Medicine, Sendai (Japan)); Tanji, H. (Dept. of Neurology, Tohoku Univ. School of Medicine, Sendai (Japan)); Kobayashi, T. (Inst. of Rehabilitation Medicine, Tohoku Univ. School of Medicine, Miyagi (Japan)); Soma, Y. (Div. of Neurology, Takeda Hospital, Aizuwakamatsu (Japan)); Sakamoto, K. (Dept. of Radiology, Tohoku Univ. School of Medicine, Sendai (Japan))

1992-12-01

Cervical spinal cord lesions in the anterior spinal artery syndrome were delineated on magnetic resonance images (MRI) in four patients. The lesion was always seen anteriorly in the cervical cord. On T2-weighted images, the lesions appeared hyperintense relative to the normal spinal cord, while on T1-weighted images, two chronic lesions appeared hypointense, with local atrophy of the cord. In one case, repeated T1-weighted images showed no signal abnormality 4 days after the ictus, but the lesion became hypointense 18 days later, when contrast enhancement was also recognized after injection of Gd-DTPA; this sequence of intensity changes was similar to that of cerebral infarction. The extent of the lesion seen MRI correlated closely with neurological findings in all cases. Although the findings may not be specific, MRI is now the modality of choice for confirming the diagnosis in patients suspected of having an anterior spinal artery syndrome. (orig.)

MRI of fetal acquired brain lesions

International Nuclear Information System (INIS)

Prayer, Daniela; Brugger, Peter C.; Kasprian, Gregor; Witzani, Linde; Helmer, Hanns; Dietrich, Wolfgang; Eppel, Wolfgang; Langer, Martin

2006-01-01

Acquired fetal brain damage is suspected in cases of destruction of previously normally formed tissue, the primary cause of which is hypoxia. Fetal brain damage may occur as a consequence of acute or chronic maternal diseases, with acute diseases causing impairment of oxygen delivery to the fetal brain, and chronic diseases interfering with normal, placental development. Infections, metabolic diseases, feto-fetal transfusion syndrome, toxic agents, mechanical traumatic events, iatrogenic accidents, and space-occupying lesions may also qualify as pathologic conditions that initiate intrauterine brain damage. MR manifestations of acute fetal brain injury (such as hemorrhage or acute ischemic lesions) can easily be recognized, as they are hardly different from postnatal lesions. The availability of diffusion-weighted sequences enhances the sensitivity in recognizing acute ischemic lesions. Recent hemorrhages are usually readily depicted on T2 (*) sequences, where they display hypointense signals. Chronic fetal brain injury may be characterized by nonspecific changes that must be attributable to the presence of an acquired cerebral pathology. The workup in suspected acquired fetal brain injury also includes the assessment of extra-CNS organs that may be affected by an underlying pathology. Finally, the placenta, as the organ that mediates oxygen delivery from the maternal circulation to the fetus, must be examined on MR images

MRI of fetal acquired brain lesions

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Prayer, Daniela [Department of Radiodiagnostics, Medical University of Vienna (Austria)]. E-mail: daniela.prayer@meduniwien.ac.at; Brugger, Peter C. [Center of Anatomy and Cell Biology, Medical University of Vienna (Austria); Kasprian, Gregor [Department of Radiodiagnostics, Medical University of Vienna (Austria); Witzani, Linde [Department of Radiodiagnostics, Medical University of Vienna (Austria); Helmer, Hanns [Department of Obstetrics and Gynecology, Medical University of Vienna (Austria); Dietrich, Wolfgang [Department of Neurosurgery, Medical University of Vienna (Austria); Eppel, Wolfgang [Department of Obstetrics and Gynecology, Medical University of Vienna (Austria); Langer, Martin [Department of Obstetrics and Gynecology, Medical University of Vienna (Austria)

2006-02-15

Acquired fetal brain damage is suspected in cases of destruction of previously normally formed tissue, the primary cause of which is hypoxia. Fetal brain damage may occur as a consequence of acute or chronic maternal diseases, with acute diseases causing impairment of oxygen delivery to the fetal brain, and chronic diseases interfering with normal, placental development. Infections, metabolic diseases, feto-fetal transfusion syndrome, toxic agents, mechanical traumatic events, iatrogenic accidents, and space-occupying lesions may also qualify as pathologic conditions that initiate intrauterine brain damage. MR manifestations of acute fetal brain injury (such as hemorrhage or acute ischemic lesions) can easily be recognized, as they are hardly different from postnatal lesions. The availability of diffusion-weighted sequences enhances the sensitivity in recognizing acute ischemic lesions. Recent hemorrhages are usually readily depicted on T2 (*) sequences, where they display hypointense signals. Chronic fetal brain injury may be characterized by nonspecific changes that must be attributable to the presence of an acquired cerebral pathology. The workup in suspected acquired fetal brain injury also includes the assessment of extra-CNS organs that may be affected by an underlying pathology. Finally, the placenta, as the organ that mediates oxygen delivery from the maternal circulation to the fetus, must be examined on MR images.

Giant cell lesions with a Noonan-like phenotype: a case report.

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Cancino, Claudia Marcela H; Gaião, Léonilson; Sant'Ana Filho, Manoel; Oliveira, Flavio Augusto Marsiaj

2007-05-01

The purpose of this article is to describe a case of multiple giant cell lesions of the mandible that occurred in a 14-year-old girl with phenotypic characteristics associated with Noonan Syndrome (NS). NS is a dysmorphic disorder characterized by hypertelorism, short stature, congenital heart defects, short and webbed neck, skeletal anomalies, and bleeding diathesis. A 14-year-old girl with a previous diagnosis of NS (sporadic case) presented with multiple radiolucent lesions in the body and ramus of her mandible. In terms of clinical behavior and the described radiographic characteristics, giant cells lesions with Noonan-like phenotype can be considered a form of cherubism. Therefore, surgical intervention is not necessary, but radiographic follow-up and observation is very important during the control and gradual regression of the lesions.

Unusual finding in pediatric Churg-Strauss: renal lesions on CT

International Nuclear Information System (INIS)

Oldan, Jorge; McCauley, Roy; Pilichowska, Monica; Milner, Lawrence; Lopez-Benitez, Jorge M.

2011-01-01

After a 19-year-old female experienced several weeks of unrelieved fevers, an abdominal CT revealed multiple low-attenuation renal lesions. As the differential included lymphoma, infections and infarcts, a core biopsy of the kidney was performed, which revealed changes consistent with Churg-Strauss syndrome. (orig.)

Unusual finding in pediatric Churg-Strauss: renal lesions on CT

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Oldan, Jorge; McCauley, Roy [Tufts Medical Center, Department of Radiology, Boston, MA (United States); Pilichowska, Monica [Tufts Medical Center, Department of Pathology, Boston, MA (United States); Milner, Lawrence [Tufts Medical Center, Department of Nephrology, Boston, MA (United States); Lopez-Benitez, Jorge M [Tufts Medical Center, Department of Rheumatology, Boston, MA (United States)

2011-08-15

After a 19-year-old female experienced several weeks of unrelieved fevers, an abdominal CT revealed multiple low-attenuation renal lesions. As the differential included lymphoma, infections and infarcts, a core biopsy of the kidney was performed, which revealed changes consistent with Churg-Strauss syndrome. (orig.)

Gorlin-Goltz syndrome in a child: case report and clinical review.

Science.gov (United States)

Snoeckx, A; Vanhoenacker, F M; Verhaert, K; Chappelle, K; Parizel, P M

2008-01-01

Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report the case of a mild mentally retarded 7-year-old boy who was referred with a swelling of his left mandible. Imaging studies showed a unilocular well-defined lytic mandibular lesion, calcifications of the falx, bifid ribs and fusion anomalies of the ribs. The mandibular lesion was treated with surgical decompression and proved to represent a keratocyst on histological examination. Further clinical examination revealed cutaneous lesions, Sprengel deformity, pectus excavatum and facial dysmorphism. Based on the combination of imaging and clinical findings the diagnosis of Gorlin-Goltz syndrome was made. This was confirmed by genetic tests. During three-year follow-up the boy presented with recurrent and multiple odontogenic keratocysts. The occurrence of multiple and recurrent keratocysts at young age, should alert the radiologist to the potential diagnosis of an underlying Gorlin-Goltz syndrome. This paper reviews the imaging findings in Gorlin-Goltz syndrome, with emphasis on maxillofacial imaging.

Radiological features of Lemierre's syndrome: A case report

International Nuclear Information System (INIS)

Tapia-Vine, M. M.; Gonzalez-Garcia, B.; Bustos, A.; Cabello, J.

2001-01-01

Lemierre's syndrome is a type of sepsis caused by anaerobes that is secondary to a pharyngotonsillar infection complicated by suppurative thrombophlebitis of ipsilateral jugular vein and septic emboli. Imaging studies are valuable tools for confirming the diagnosis. Chest x-ray reveals poorly defined cavitated, peripheral, nodular lesions. computed tomography (CT) is useful in confirming the pulmonary lesions, which are suggestive of septic emboli. Doppler ultrasound of the neck plays and indispensable role in demonstrating the internal jugular vein thrombosis. We report the case of patient who presented the characteristic clinical and radiological features of Lemierre's syndrome. (Author) 17 refs

Two cases of Tolosa-Hunt syndrome showing interesting CT findings

International Nuclear Information System (INIS)

Abe, Masahiro; Hara, Yuzo; Ito, Noritaka; Nishimura, Mieko; Onishi, Yoshitaka; Hasuo, Kanehiro

1982-01-01

CT showed the lesion at the orbital apex in both of the 2 cases of Tolosa-Hunt syndrome. Steroid therapy resulted in improvement of clinical symptoms and regression of the lesion which was confirmed by CT. (Chiba, N.)

Efficacy for Sustained Use of Topical Dorzolamide Therapy for Cystic Macular Lesions in Patients with Retinitis Pigmentosa and Usher Syndrome

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Genead, Mohamed A.; Fishman, Gerald A.

2013-01-01

Objectives To determine the efficacy for sustained use of topical therapy with dorzolamide hydrochloride 2% on visual acuity and cystic macular lesions in retinitis pigmentosa (RP) and Usher (USH) syndrome patients. Design Retrospective case series. Setting University hospital. Patients Sixty-four eyes of 32 patients with RP or USH syndrome who received treatment with topical dorzolamide formulation for a duration ranging from 6–58 months were enrolled. Main Outcome Measures Changes in visual acuity (ETDRS) and central foveal zone thickness on optical coherence tomography during follow-up for the duration of treatment. Results Among the study cohort, a positive response occurred in 20 of 32 patients (63%) in at least one eye and in 13 patients (41%) in both eyes. Four patients (20%) showed an initial response and a subsequent rebound of macular cysts. In 8 patients (25%) there was no response to treatment and the macular cysts worsened when compared with the pretreatment level. Ten patients (31%) had improvement in visual acuity by ≥7 letters in at least one eye at the most recent follow-up visit. Sixteen patients (67%) showed a reduction of >11% in the central foveal zone thickness in at least one eye when compared with the pretreatment level. Conclusion Treatment of cystoid macular edema with topical dorzolamide in patients with either RP or USH syndrome and followed by an OCT-guided strategy showed a decrease in central foveal zone thickness in the majority of cases. Visual acuity improved in almost 1/3 of the cases, suggesting a potential corresponding visual benefit. PMID:20837798

Budd-Chiari syndrome complicating hydatid liver disease

International Nuclear Information System (INIS)

Robotti, G.C.; Meister, F.; Schroeder, R.; Bern Univ.; Bern Univ.

1985-01-01

In two female patients a diagnosis of Budd-Chiari syndrome secondary to hepatic echinococcosis was established by CT. One patient developed acute Budd-Chiari syndrome secondary to E. granulosus lesions of the liver. The second patient presented with a picture of chronic Budd-Chiari syndrome secondary to alveolar echinococcosis. CT findings of Budd-Chiari syndrome included ascites, low density areas in the liver parenchyma, hypertrophy of the caudate lobe, non visualisation of the hepatic veins, occlusion of the retrohepatic inferior vena cava and enlarged retroperitoneal veins. (orig.) [de

Churg-Strauss syndrome presenting with conjunctival and eyelid masses: a case report.

Science.gov (United States)

Ameli, F; Phang, K S; Masir, N

2011-12-01

Churg-Strauss syndrome, a small and medium vessel vasculitis, was first described by Churg and Strauss in 1951. It is characterised by the presence of asthma, prominent tissue and blood eosinophilia, systemic vasculitis, and pulmonary and systemic necrotising allergic granulomas. Involvement of the skin, heart and gastrointestinal tract is well documented, but ocular presentation is unusual. We describe a 40-year-old lady who presented with recurrent upper eyelid swelling due to conjunctival lesions. Although she has chronic asthma, Churg-Strauss syndrome was never suspected. The diagnosis of Churg-Strauss syndrome was only made following histological examination of the conjunctival lesions.

Keratocystic odontogenic tumors related to Gorlin-Goltz syndrome: A clinicopathological study.

Science.gov (United States)

Khaliq, Mohammed Israr Ul; Shah, Ajaz A; Ahmad, Irshad; Hasan, Shahid; Jangam, Sagar S; Farah; Anwar

2016-01-01

Assess clinicopathological features of patients with keratocystic odontogenic tumor (KCOT) associated with Gorlin-Goltz syndrome in our institution from 2004 to 2015. After histopathological analyses of KCOT related to Gorlin-Goltz syndrome, 7 patients were assessed. These patients presented a total of 15 primary and 2 recurrent KCOT. All patients presented a multiple KCOT, and 13 lesions were located in mandible (77%) and 4 (23%) in maxilla. Most of the tumors presented a unilocular pattern (71%) and had tooth association (88%). Four patients (57%) were in the age group of 10-19 years and three patients (43%) were in the age group of 20-29 years. There were four male and three female patients. KCOT is a frequent manifestation of Gorlin-Goltz syndrome and can be its first sign, mainly in young patients. The four patients presented with two lesions (57%) and three lesions in three patients (43%).

Osteolytic-variant POEMS syndrome: an uncommon presentation of ''osteosclerotic'' myeloma

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Clark, Michael S.; Howe, Benjamin M.; Glazebrook, Katrina N.; Broski, Stephen M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Mauermann, Michelle L. [Mayo Clinic, Department of Neurology, Rochester, MN (United States)

2017-06-15

Polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (POEMS) syndrome, a form of osteosclerotic myeloma, is a multisystem disease related to a monoclonal plasma cell proliferative disorder. Osseous lesions are most commonly sclerotic on radiographs and computed tomography (CT), demonstrate low T1 and T2 signal intensity on magnetic resonance imaging (MRI), and have variable degrees of avidity on positon emission tomography (PET) imaging using 18-fluorodeoxyglucose ({sup 18}F-FDG). We present three cases of POEMS syndrome manifesting as osteolytic lesions with indolent features, including well-defined thin sclerotic rims, no cortical disruption or periosteal reaction, no associated soft-tissue mass, and a periarticular location, all features that could lead to misinterpretation as benign bone lesions. We also report increased T1 signal and diffuse solid enhancement of these lesions on MRI, features previously unreported. POEMS syndrome should not be discounted as a diagnostic consideration in the setting of osteolytic lesions with non-aggressive imaging characteristics on radiographs or CT, especially in the presence of other supportive clinical features. (orig.)

Sweet’s Syndrome Successfully Treated with Granulocyte and Monocyte Adsorption Apheresis

Directory of Open Access Journals (Sweden)

Asami Fujii

2017-05-01

Full Text Available Sweet’s syndrome is a neutrophilic dermatosis characterized by an abrupt onset of painful erythematous lesions showing neutrophilic infiltrates in the dermis. Fever and an elevated neutrophil level are generally observed. Sweet’s syndrome may be idiopathic, malignancy-associated, or drug-induced (mainly involving granulocyte colony-stimulating factor (G-CSF administration. Although systemic corticosteroids are usually effective, the symptoms of Sweet’s syndrome recur in some refractory cases. Herein, we report a case of a 55-year-old Japanese woman with recurrent symptoms of fever (>39°C and painful erythematous lesions on her four extremities, trunk, and neck. Laboratory findings revealed leukocytosis and high levels of C-reactive protein (CRP and G-CSF. She was diagnosed with a recurrence of Sweet’s syndrome, and was exclusively treated with granulocyte and monocyte adsorption apheresis (GMA therapy once a week for 3 consecutive weeks. After the first session of GMA therapy, all symptoms including the erythematous lesions and fever were completely resolved, and serum G-CSF level was reduced. Leukocyte count, neutrophil count, serum amyloid A protein, and CRP levels were restored within normal ranges by 2 weeks. Thus, GMA therapy can successfully treat a patient with recurrent Sweet’s syndrome, potentially related to the restoration of elevated serum G-CSF levels.

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome

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Meyers, Arthur B. [Children' s Hospital of Wisconsin, Department of Radiology, Milwaukee, WI (United States); Nemours Children' s Health System/Nemours Children' s Hospital, Department of Radiology, Orlando, FL (United States); Awomolo, Agboola O. [Children' s Hospital of Wisconsin, Department of Radiology, Milwaukee, WI (United States); Szabo, Sara [Medical College of Wisconsin and Children' s Hospital of Wisconsin, Department of Pathology, Milwaukee, WI (United States); Cincinnati Children' s Hospital Medical Center, Division of Pathology and Laboratory Medicine, Cincinnati, OH (United States)

2017-03-15

Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions. (orig.)

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome.

Science.gov (United States)

Meyers, Arthur B; Awomolo, Agboola O; Szabo, Sara

2017-03-01

Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions.

Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome

International Nuclear Information System (INIS)

Meyers, Arthur B.; Awomolo, Agboola O.; Szabo, Sara

2017-01-01

Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis. It is important for radiologists to be aware of the association of Noonan syndrome and multifocal giant cell lesions, which can range from the more commonly described giant cell granulomas of the mandible to isolated or multifocal intra- or extra-articular tenosynovial giant cell tumors or a combination of all of these lesions. (orig.)

Black Toenail Sign in MELAS Syndrome.

Science.gov (United States)

Whitehead, Matthew T; Wien, Michael; Lee, Bonmyong; Bass, Nancy; Gropman, Andrea

2017-10-01

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a mitochondrial disorder often causing progressive brain injury that is not confined to large arterial territories. Severe insults ultimately lead to gyral necrosis affecting the cortex and juxtacortical white matter; the neuroimaging correlate is partial gyral signal suppression on T2/FLAIR sequences that resemble black toenails. We aimed to characterize the imaging features and the natural history of MELAS-related gyral necrosis. Databases at two children's hospitals were searched for brain magnetic resonance imaging studies of individuals with MELAS. Examinations with motion artifact and those lacking T2/FLAIR sequences were excluded. The location, the cumulative number, and the maximum transverse diameter of necrotic gyral lesions were assessed using T2-weighted images and T2/FLAIR sequences. Wilcoxon signed-rank test was employed to evaluate the relationship between disease duration and the number of necrotic lesions. One hundred twenty-four examinations from patients with 14 unique MELAS patients (16 ± 3 years) were evaluated. Six of the eight patients who developed brain lesions also developed gyral necroses (mean 13, range 0 to 44). Necrotic lesions varied in maximal diameter from 4 to 25 mm. Cumulative necrotic lesions correlated with disease duration (P MELAS syndrome. The extent of gyral necrosis correlates with disease duration. Copyright © 2017 Elsevier Inc. All rights reserved.

Acute disseminated candidiasis with skin lesions: a systematic review.

Science.gov (United States)

Guarana, M; Nucci, M

2018-03-01

Neutropenic patients developing acute disseminated candidiasis may present with skin lesions. To evaluate the epidemiology of acute disseminated candidiasis with skin lesions in neutropenic patients, taking into consideration changes caused by different prophylactic strategies. A systematic review of English-language articles found via PubMed (1963-2016) was performed. We asked the following questions: (a) What Candida species are more frequently involved in this syndrome? (b) Has antifungal prophylaxis changed the species causing skin lesions? (c) What are the typical patterns of skin lesions? (d) What is the frequency of skin lesions in neutropenic patients with candidaemia or acute disseminated candidiasis? (e) Has antifungal prophylaxis decreased the incidence of acute disseminated candidiasis with skin lesions? Among 183 studies, 33 were selected, reporting 100 cases of acute disseminated candidiasis with skin lesions in neutropenic patients. It occurred more frequently in the setting of induction therapy for de novo or relapsed acute leukaemia, and the most frequent Candida species were C. tropicalis (68%) and C. krusei (15%). Diffuse maculopapular lesions predominated in cases caused by C. tropicalis and nodular and papular lesions in cases caused by C. krusei. Prophylaxis with fluconazole was reported in six cases, C. krusei in five and C. ciferrii in one. The death rate was 45.4%. Two patterns were recognized: disseminated maculopapular lesions caused by C. tropicalis in patients not receiving fluconazole prophylaxis, occurring in 39% to 44% of neutropenic patients with acute disseminated candidiasis, and nodular lesions caused by C. krusei in patients receiving fluconazole prophylaxis, occurring less frequently. Copyright © 2017 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

Sweet's syndrome – a comprehensive review of an acute febrile neutrophilic dermatosis

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Cohen Philip R

2007-07-01

Full Text Available Abstract Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques, and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. Several hundreds cases of Sweet's syndrome have been published. Sweet's syndrome presents in three clinical settings: classical (or idiopathic, malignancy-associated, and drug-induced. Classical Sweet's syndrome (CSS usually presents in women between the age of 30 to 50 years, it is often preceded by an upper respiratory tract infection and may be associated with inflammatory bowel disease and pregnancy. Approximately one-third of patients with CSS experience recurrence of the dermatosis. The malignancy-associated Sweet's syndrome (MASS can occur as a paraneoplastic syndrome in patients with an established cancer or individuals whose Sweet's syndrome-related hematologic dyscrasia or solid tumor was previously undiscovered; MASS is most commonly related to acute myelogenous leukemia. The dermatosis can precede, follow, or appear concurrent with the diagnosis of the patient's cancer. Hence, MASS can be the cutaneous harbinger of either an undiagnosed visceral malignancy in a previously cancer-free individual or an unsuspected cancer recurrence in an oncology patient. Drug-induced Sweet's syndrome (DISS most commonly occurs in patients who have been treated with granulocyte-colony stimulating factor, however, other medications may also be associated with DISS. The pathogenesis of Sweet's syndrome may be multifactorial and still remains to be definitively established. Clinical and laboratory evidence suggests that cytokines have an etiologic role. Systemic corticosteroids are the therapeutic gold standard for Sweet's syndrome. After initiation of treatment

The POEMS syndrome: Report of three cases with radiographic abnormalities

International Nuclear Information System (INIS)

Tanaka, O.; Ohsawa, T.

1984-01-01

Three cases of a unique multisystemic syndrome with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (the POEMS syndrome) are presented, along with a review of the literature. Clinical and radiographic features of this syndrome and etiological considerations are discussed. A variety of osteosclerotic lesions, nonspecific pleural effusion and ascites are characteristic radiographic manifestations. (orig.) [de

[Constitutional mismatch repair deficiency syndrome].

Science.gov (United States)

Jongmans, Marjolijn C; Gidding, Corrie E; Loeffen, Jan; Wesseling, Pieter; Mensenkamp, Arjen; Hoogerbrugge, Nicoline

2015-01-01

Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.

Multifocal spinal hemangioblastoma in von Hippel-Lindau syndrome: A case report and literature review

Energy Technology Data Exchange (ETDEWEB)

Kim, Ok Hwa [Dept. of Radiology, Inje University College of Medicine, Haeundae Paik Hospital, Busan (Korea, Republic of)

2015-03-15

Hemangioblastoma is a benign vascular neoplasm of the central nervous system that occurs frequently in the cerebellum and other areas of the central nervous system including spinal cord and brainstem. Spinal hemangioblastoma can present as a sporadic isolated lesion or as a component of von Hippel-Lindau syndrome. The author presents a case of 32-year-old man with von Hippel-Lindau syndrome and spinal hemangioblastomas represented by multiple small spinal lesions, with an emphasis on the magnetic resonance imaging findings and clinical characteristics of von Hippel-Lindau syndrome-associated spinal hemangioblastomas.

Multifocal spinal hemangioblastoma in von Hippel-Lindau syndrome: A case report and literature review

International Nuclear Information System (INIS)

Kim, Ok Hwa

2015-01-01

Hemangioblastoma is a benign vascular neoplasm of the central nervous system that occurs frequently in the cerebellum and other areas of the central nervous system including spinal cord and brainstem. Spinal hemangioblastoma can present as a sporadic isolated lesion or as a component of von Hippel-Lindau syndrome. The author presents a case of 32-year-old man with von Hippel-Lindau syndrome and spinal hemangioblastomas represented by multiple small spinal lesions, with an emphasis on the magnetic resonance imaging findings and clinical characteristics of von Hippel-Lindau syndrome-associated spinal hemangioblastomas.

Carpal Tunnel Syndrome in Aberrant Muscle Syndrome: A Case Report and Review of the Literature.

Science.gov (United States)

Steele, Jessica; Coombs, Christopher

2018-06-01

Aberrant Muscle Syndrome (AMS) is a rare congenital hand difference that is characterised by unilateral non-progressive muscular hyperplasia. The aetiology of aberrant muscle syndrome is not known, but a recently published case has shown a somatic PIK3CA activating mutation in a patient with AMS. Carpal tunnel syndrome (CTS) in children is rare. The most common causes are the mucopolysaccaridoses but space-occupying lesions have also been reported to cause CTS in children. We report the first case of CTS in a child with AMS successfully treated with open carpal tunnel release and excision of aberrant muscles.

Endoscopic detection rate of sessile serrated lesions in Lynch syndrome patients is comparable with an age- and gender-matched control population: case-control study with expert pathology review.

Science.gov (United States)

Vleugels, Jasper L A; Sahin, Husna; Hazewinkel, Yark; Koens, Lianne; van den Berg, Jose G; van Leerdam, Monique E; Dekker, Evelien

2018-05-01

Carcinogenesis in Lynch syndrome involves fast progression of adenomas to colorectal cancer (CRC) because of microsatellite instability. The role of sessile serrated lesions (SSLs) and the serrated neoplasia pathway in these patients is unknown. The aim of this matched case-control study was to compare endoscopic detection rates and distribution of SSLs in Lynch syndrome patients with a matched control population. We collected data of Lynch syndrome patients with a proven germline mutation who underwent colonoscopy between January 2011 and April 2016 in 2 tertiary referral hospitals. Control subjects undergoing elective colonoscopy from 2011 and onward for symptoms or surveillance were selected from a prospectively collected database. Patients were matched 1:1 for age, gender, and index versus surveillance colonoscopy. An expert pathology review of serrated polyps was performed. The primary outcomes included the detection rates and distribution of SSLs. We identified 321 patients with Lynch syndrome who underwent at least 1 colonoscopy. Of these, 223 Lynch syndrome patients (mean age, 49.3; 59% women; index colonoscopy, 56%) were matched to 223 control subjects. SSLs were detected in 7.6% (95% confidence interval, 4.8-11.9) of colonoscopies performed in Lynch syndrome patients and in 6.7% (95% confidence interval, 4.1-10.8) of control subjects (P = .86). None of the detected SSLs in Lynch syndrome patients contained dysplasia. The detection rate of SSLs in Lynch syndrome patients undergoing colonoscopy is comparable with a matched population. These findings suggest that the role of the serrated neoplasia pathway in CRC development in Lynch syndrome seems to be comparable with that in the general population. Copyright © 2018 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.

McCune-Albright syndrome: radiological and MR findings.

Science.gov (United States)

Yongjing, G; Huawei, L; Zilai, P; Bei, D; Hao, J; Kemin, C

2001-01-01

McCune-Albright syndrome (MAS) is a non-inherited disorder due to the GNAS1 gene mutation. The syndrome is characterized with the triad of polyostotic fibrous dysplasia, pigmented skin lesions, endocrinopathy, and precocious puberty. We report the case of a 14-year-old boy, presenting with sclerotic type of polyostotic fibrous dysplasia. Radiological methods including plain X-ray film, MR and whole body bone scintigraphy suggested the diagnosis of MAS. MRI provided more directly perceived images and it was more sensitive in demonstrating the lesion: its shape, contents, especially the size of the affected region. Histopathological study and the identification of mutant gene finally confirmed the diagnostic result.

A case study on successful ayurvedic management of a rare case of reiter's syndrome

Directory of Open Access Journals (Sweden)

Vaishali Kuchewar

2017-01-01

Full Text Available Reiter's syndrome is a clinical syndrome of arthritis, urethritis, conjunctivitis, and mucocutaneous lesions. Skin and mucosal involvement is observed in about 10% of the cases. A 34-year-old male was brought in severe condition. He had red colored foul smelling maculopapular skin lesions all over body, swollen and painful knee and shoulder joints. History revealed that he was suffering from Reiter's syndrome since 2003. He used to get admitted between the months of February and May every year due to aggravation of symptoms. Every time he was treated with systemic antibiotics, corticosteroids, immunosuppressants and non-steroidal anti-inflammatory drugs. He was successfully treated with external application and internal medication with tikta (bitter and kaṣāya (astringent drugs. He got significant relief in skin lesions as well as joint pain and his quality of life was markedly improved. This case study demonstrates that Reiter's syndrome can be well managed with Ayurvedic medicines.

A multicenter study on Leigh syndrome

DEFF Research Database (Denmark)

Sofou, Kalliopi; De Coo, Irenaeus F M; Isohanni, Pirjo

2014-01-01

BACKGROUND: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural...... history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients. METHODS: This is a retrospective study of patients with Leigh syndrome...... to thrive, brainstem lesions on neuroimaging and intensive care treatment were significantly associated with poorer survival. CONCLUSIONS: This is a multicenter study performed in a large cohort of patients with Leigh syndrome. Our data help define the natural history of Leigh syndrome and identify novel...

Keratocystic odontogenic tumors related to Gorlin–Goltz syndrome: A clinicopathological study

Science.gov (United States)

Khaliq, Mohammed Israr Ul; Shah, Ajaz A.; Ahmad, Irshad; Hasan, Shahid; Jangam, Sagar S.; Farah; Anwar

2015-01-01

Background Assess clinicopathological features of patients with keratocystic odontogenic tumor (KCOT) associated with Gorlin–Goltz syndrome in our institution from 2004 to 2015. Method After histopathological analyses of KCOT related to Gorlin–Goltz syndrome, 7 patients were assessed. These patients presented a total of 15 primary and 2 recurrent KCOT. Results All patients presented a multiple KCOT, and 13 lesions were located in mandible (77%) and 4 (23%) in maxilla. Most of the tumors presented a unilocular pattern (71%) and had tooth association (88%). Four patients (57%) were in the age group of 10–19 years and three patients (43%) were in the age group of 20–29 years. There were four male and three female patients. Conclusion KCOT is a frequent manifestation of Gorlin–Goltz syndrome and can be its first sign, mainly in young patients. The four patients presented with two lesions (57%) and three lesions in three patients (43%). PMID:27195205

Diagnostic evaluation of rare lesions of the arteria poplitea

International Nuclear Information System (INIS)

Schmitt, R.; Christopoulos, G.; Froehner, S.; Binder, F.; Schweiger, H.

2001-01-01

Clinical and radiological findings of six patients are discussed who, due to a specific pathology of the arteria poplitea, developed claudicatio primarily in the lower leg. Applying MS-CT and MRI, the following lesions of the arteria poplitea wer found: bilateral aneurysm verum (1 case), unilateral aneurysm spurium (1 case), the arteria magna syndrome (1 case), entrapment syndrome (2 cases), and cystic adventitia degeneration. The outstanding diagnostic value of MR angiography combined with MR imaging is explained. Good knowledge of the specific pathology of the arteria poplitea is pre-requisite of efficient diagnostic evaluation, and prevention of thromboembolic complications, or ineffective therapy. (orig./CB) [de

Klippel-Trenaunay syndrome in a Border collie.

Science.gov (United States)

de Cock, H; Mols, N; van Roy, M R; Ducatelle, R; Simoens, P

1996-10-01

A Border collie was presented at the age of 9 weeks with several lesions of the right forelimb, including a reddish-blue haemangiomatous macula in the medio-dorsal part of the elbow, multiple, scattered small cavernous haemangioma-like lesions at the plantar part of the foot and a general hypertrophy of the limb. X-rays of the limb showed osteolysis. On skin biopsy, telangiectatic veins were observed. The rest of the body did not show any skin lesions or hypertrophy. The dog was otherwise healthy. Due to the extension of the lesions and worsening of the limb swelling, it was decided to amputate the affected limb. The dog remained healthy for 2 weeks, but then passed through episodes of anaemia, and finally died suddenly with signs of shock. Dissection of the limb after amputation revealed hypoplasia and aplasia of the deep venous system in the lower part of the leg. No arterio-venous shunts were noticed. ln man, this syndrome, characterised by an insufficiently developed deep venous system associated with local overgrowth of the limb and cutaneous telangiectasia, is known as Klippel-Trenaunay syndrome.

The role of radiotherapy in the management of POEMS syndrome

OpenAIRE

Suh, Yang-Gun; Kim, Young-Suk; Suh, Chang-Ok; Kim, Yu Ri; Cheong, June-Won; Kim, Jin Seok; Cho, Jaeho

2014-01-01

Background POEMS syndrome is a paraneoplastic syndrome caused by an underlying plasma cell proliferative disease. In this study, we examined the treatment outcomes and role of radiotherapy in the management of POEMS syndrome. Methods In total, 33 patients diagnosed with POEMS syndrome were analyzed. These patients presented with osteosclerotic myeloma (OSM, n = 13), Castleman’s disease (CD, n = 4), OSM with CD (n = 10), and vascular endothelial growth factor elevation without gross lesions (V...

Thalamus lesions in chronic and acute seizure disorders

Energy Technology Data Exchange (ETDEWEB)

Tschampa, Henriette J; Greschus, Susanne; Urbach, Horst [University of Bonn, Department of Radiology (Neuroradiology), Bonn (Germany); Sassen, Robert; Bien, Christian G [University of Bonn, Department of Epileptology, Bonn (Germany)

2011-04-15

Transient signal changes in the pulvinar have been described following status epilepticus. However, we observed persistent thalamus changes after seizures. The purpose of this study was to characterize thalamus changes in patients with seizure disorders and to correlate imaging findings with clinical features. We searched among 5,500 magnetic resonance imaging (MRI) exams performed in patients with seizures and identified 43 patients. The MRI scans of these patients were reviewed and correlated with clinical data. We identified four patterns of thalamus lesions: (a) fluid attenuated inversion recovery-hyperintense pulvinar lesions (20 patients), as known from status epilepticus. Ten patients in this group had a status epilepticus. Among the remaining patients, three had frequent seizures and seven had sporadic seizures. Twelve patients had follow-up exams for a median of 11 months. The lesions had persisted in 11/12 cases in the last available exam and were reversible in one case only. In seven cases, cone-shaped thalamus atrophy resulted, (b) linear defects in the medial and anterior thalamus (five patients), accompanied by atrophy of the mamillary body and the fornix in patients with chronic epilepsy, (c) extensive bilateral thalamus lesions in two patients with a syndrome caused by mutation in the mitochondrial polymerase gamma, and (d) other thalamus lesions not associated with the seizure disorder (16 patients). The spectrum of thalamus lesions in patients with seizure disorders is wider than previously reported. Postictal pulvinar lesions can persist and may result in thalamic atrophy. Linear defects in the anterior thalamus are associated with limbic system atrophy. (orig.)

Thalamus lesions in chronic and acute seizure disorders

International Nuclear Information System (INIS)

Tschampa, Henriette J.; Greschus, Susanne; Urbach, Horst; Sassen, Robert; Bien, Christian G.

2011-01-01

Transient signal changes in the pulvinar have been described following status epilepticus. However, we observed persistent thalamus changes after seizures. The purpose of this study was to characterize thalamus changes in patients with seizure disorders and to correlate imaging findings with clinical features. We searched among 5,500 magnetic resonance imaging (MRI) exams performed in patients with seizures and identified 43 patients. The MRI scans of these patients were reviewed and correlated with clinical data. We identified four patterns of thalamus lesions: (a) fluid attenuated inversion recovery-hyperintense pulvinar lesions (20 patients), as known from status epilepticus. Ten patients in this group had a status epilepticus. Among the remaining patients, three had frequent seizures and seven had sporadic seizures. Twelve patients had follow-up exams for a median of 11 months. The lesions had persisted in 11/12 cases in the last available exam and were reversible in one case only. In seven cases, cone-shaped thalamus atrophy resulted, (b) linear defects in the medial and anterior thalamus (five patients), accompanied by atrophy of the mamillary body and the fornix in patients with chronic epilepsy, (c) extensive bilateral thalamus lesions in two patients with a syndrome caused by mutation in the mitochondrial polymerase gamma, and (d) other thalamus lesions not associated with the seizure disorder (16 patients). The spectrum of thalamus lesions in patients with seizure disorders is wider than previously reported. Postictal pulvinar lesions can persist and may result in thalamic atrophy. Linear defects in the anterior thalamus are associated with limbic system atrophy. (orig.)

Cutaneous Radiation Syndrome : Review of Assessment and Management

International Nuclear Information System (INIS)

El-Shanshoury, H.

2016-01-01

The cutaneous radiation syndrome (CRS) refers to a number of pathologies that may become a manifest after exposure of the skin to ionizing radiation. Signs and symptoms of the CRS appear within hours of exposure; however, the development of lesions can take days to years. The latent period for the manifestation of a specific pathology depends on the characteristics of the target cells responsible for the development of that lesion and the dose of radiation delivered to those target cells. The intensity and duration of the lesions are also dose dependent. Since the depth dose distribution of a radiation source depends on the radiation quality, the development of a specific lesion, its intensity and its duration is also expected to vary with radiation quality. The Cars may appear as an isolated lesion or as a number of lesions occurring simultaneously or over different time scales. In dealing with the cutaneous tissues, the concept of dose is meaningless unless it is associated with a reference depth dose distribution to indicate the level of injury to specific target cells. Large radiation doses to the skin can cause permanent hair loss, damaged sebaceous and sweat glands, atrophy, fibrosis decreased or increased skin pigmentation, and ulceration or necrosis of the exposed tissue. However, similar lesions may develop later after much lower doses. Death from the cutaneous syndrome could result in days or longer, depending on other conditions, such as dose rate, medical care and size of injury

RAEDER PARATRIGEMINAL SYNDROME IN A PATIENT WITH A MASS LESION IN THE MAXILLARY SINUS

Directory of Open Access Journals (Sweden)

Vyara Kirkova

2010-12-01

Full Text Available Raeder paratrigeminal syndrome is a rare syndrome, characterized by severe unilateral facial pain and headache in the distribution of the ophthalmic division of the trigeminal nerve in combination with ipsilateral oculosympathetic palsy or Horner syndrome. We describe a case of a 65-year-old male patient with a large tumor in the right maxillary sinus who presented with the rare Raeder syndrome.

Differential radiodiagnosis of cranial lesions in hyperparathyroid and deforming asteodystrophy, fibrous osteoplasia, multiple myeloma and tumor metastases to the cranial bones

International Nuclear Information System (INIS)

Spuzyak, M.I.

1986-01-01

The results of an analysis of craniographic findings were provided for 58 patients with primary hyperparathyrosis, 12 with fibrous osteodysplasia, 6 with deforming osteodystrophy, 14 with multiple myeloma and 16 with tumor metastases to the cranial bones. A study was made of some features of roentgenological semiotics (changes in the structure thickness and shapes of the cranial bones) of cranial bone lesions in the above diseases. Differential radiodiagnosis of cranial lesions in hypeparathyroid and deforming osteodystrophy, fibrous osteodysplasia, multiple myeloma and metastatic lesions of the cranial bones should be based not on single signs but on the symptom-complex (x-ray syndrome). For each of the analysed diseases x-ray syndromes were described

Acute myocardial infarction and lesion location in the left circumflex artery

DEFF Research Database (Denmark)

Waziri, Homa; Jørgensen, Erik; Kelbæk, Henning

2016-01-01

AIMS: Due to the limitations of 12-lead ECG, occlusions of the left circumflex artery (LCX) are more likely to present as non-ST-elevation acute coronary syndrome (NSTEACS) compared with other coronary arteries. We aimed to study mortality in patients with LCX lesions and to assess the importance...

SAPHO: syndrome or concept? Imaging findings

Energy Technology Data Exchange (ETDEWEB)

Earwaker, J.W.S. [Department of Medical Imaging, Holy Spirit Hospital, Brisbane (Australia); Cotten, A. [Service de Radiologie OsteoArticulaire, Hopital Roger Salengro, Lille (France)

2003-06-01

The SAPHO syndrome was a term coined to include a variety of musculoskeletal disorders associated with skin conditions, mainly palmoplantar pustulosis and acne conglobata. It is more correctly a spectrum which includes the following: skin lesions, osteoarticular manifestations of synovitis hyperostosis and osteitis affecting particular target sites, and.a clinical course marked by relapses and remissions. The major sites of involvement are the anterior chest wall, the spine, long bones, flat bones, and large and small joints. The distribution and severity of involvement varies from the adult to the pediatric form of chronic recurrent multifocal osteomyelitis (CRMO). The diagnosis of SAPHO syndrome is not difficult when the typical osteoarticular lesions are located in characteristic target sites. The diagnosis is more difficult if atypical sites are involved and there is no skin disease. (orig.)

Posterior alien hand syndrome: case report

International Nuclear Information System (INIS)

Rohde, S.; Weidauer, S.; Lanfermann, H.; Zanella, F.

2002-01-01

The alien hand syndrome (AHS) is involuntary uncontrolled movement of an arm with a sense of estrangement from the limb itself. AHS was initially used to describe interhemispheric disconnection phenomena in patients with lesions in the anterior corpus callosum, but it has been found in patients with posterior cerebral lesions without involvement of the corpus callosum, for example parietal infarcts or corticobasal degeneration. The posterior alien hand syndrome is less frequent and presents with nonpurposive behaviour like lifting the arm or writhing fingers. We report an 80-year-old woman with a posterior AHS of the dominant right hand. MRI showed atrophy of the pre- and postcentral gyri without involvement of the corpus callosum. We discuss the aetiology of the posterior AHS and the differences from the anterior varieties. (orig.)

The Usefulness of the Preoperative Magnetic Resonance Imaging Findings in the Evaluation of Tarsal Tunnel Syndrome

Energy Technology Data Exchange (ETDEWEB)

Jung, Hyun Jin; Lee, Sheen Woo; Jeong, Yu Mi; Choi, Hye Young; Kim, Hyung Sik [Dept. of Radiology, Gil Hospital, Gacheon University College of Medicine, Incheon (Korea, Republic of); Park, Hong Gi; Kwak, Ji Hoon [Dept. of Orthopedic Surgery, Gil Hospital, Gacheon University College of Medicine, Incheon (Korea, Republic of)

2012-02-15

The purpose of this study was to access the diverse conditions that lead to the clinical manifestations of tarsal tunnel syndrome and evaluate the usefulness of magnetic resonance imaging (MRI) in preoperative evaluation. Thirty-three patients who underwent ankle MRI and surgery under the impression of tarsal tunnel syndrome were retrospectively analyzed. The findings on ankle MRI were categorized into space occupying lesions within the tarsal tunnel, space occupying lesions of the tunnel wall, and non-space occupying lesions. Associated plantar muscle atrophy was also evaluated. Medical records were reviewed for correlation of nerve conduction velocity (NCV) and surgical findings. There were 21 space occupying lesions of the tarsal tunnel, and eight lesions of tarsal tunnel wall. There were three cases with accessory muscle, three with tarsal coalition, five with ganglion cysts, one neurogenic tumor, five flexor retinaculum hypertrophy, three varicose veins, and nine with tenosynovitis of the posterior tibialis, flexor digitorum longus, or flexor hallucis longus tendon. One patient was found to have a deltoid ligament sprain. Of the 32, eight patients experienced fatty atrophic change within any one of the foot muscles. NCV was positive in 79% of the MRI-positive lesions. MRI provides detailed information on ankle anatomy, which includes that of tarsal tunnel and beyond. Pathologic conditions that cause or mimic tarsal tunnel syndrome are well demonstrated. MRI can enhance surgical planning by indicating the extent of decompression required, and help with further patient management. Patients with tarsal tunnel syndrome can greatly benefit from preoperative MRI. However, it should be noted that not all cases with tarsal tunnel syndrome have MRI-demonstrable causes.

The Usefulness of the Preoperative Magnetic Resonance Imaging Findings in the Evaluation of Tarsal Tunnel Syndrome

International Nuclear Information System (INIS)

Jung, Hyun Jin; Lee, Sheen Woo; Jeong, Yu Mi; Choi, Hye Young; Kim, Hyung Sik; Park, Hong Gi; Kwak, Ji Hoon

2012-01-01

The purpose of this study was to access the diverse conditions that lead to the clinical manifestations of tarsal tunnel syndrome and evaluate the usefulness of magnetic resonance imaging (MRI) in preoperative evaluation. Thirty-three patients who underwent ankle MRI and surgery under the impression of tarsal tunnel syndrome were retrospectively analyzed. The findings on ankle MRI were categorized into space occupying lesions within the tarsal tunnel, space occupying lesions of the tunnel wall, and non-space occupying lesions. Associated plantar muscle atrophy was also evaluated. Medical records were reviewed for correlation of nerve conduction velocity (NCV) and surgical findings. There were 21 space occupying lesions of the tarsal tunnel, and eight lesions of tarsal tunnel wall. There were three cases with accessory muscle, three with tarsal coalition, five with ganglion cysts, one neurogenic tumor, five flexor retinaculum hypertrophy, three varicose veins, and nine with tenosynovitis of the posterior tibialis, flexor digitorum longus, or flexor hallucis longus tendon. One patient was found to have a deltoid ligament sprain. Of the 32, eight patients experienced fatty atrophic change within any one of the foot muscles. NCV was positive in 79% of the MRI-positive lesions. MRI provides detailed information on ankle anatomy, which includes that of tarsal tunnel and beyond. Pathologic conditions that cause or mimic tarsal tunnel syndrome are well demonstrated. MRI can enhance surgical planning by indicating the extent of decompression required, and help with further patient management. Patients with tarsal tunnel syndrome can greatly benefit from preoperative MRI. However, it should be noted that not all cases with tarsal tunnel syndrome have MRI-demonstrable causes.

Nonlethal screening of bat-wing skin with the use of ultraviolet fluorescence to detect lesions indicative of white-nose syndrome.

Science.gov (United States)

Turner, Gregory G; Meteyer, Carol Uphoff; Barton, Hazel; Gumbs, John F; Reeder, DeeAnn M; Overton, Barrie; Bandouchova, Hana; Bartonička, Tomáš; Martínková, Natália; Pikula, Jiri; Zukal, Jan; Blehert, David S

2014-07-01

Definitive diagnosis of the bat disease white-nose syndrome (WNS) requires histologic analysis to identify the cutaneous erosions caused by the fungal pathogen Pseudogymnoascus [formerly Geomyces] destructans (Pd). Gross visual inspection does not distinguish bats with or without WNS, and no nonlethal, on-site, preliminary screening methods are available for WNS in bats. We demonstrate that long-wave ultraviolet (UV) light (wavelength 366-385 nm) elicits a distinct orange-yellow fluorescence in bat-wing membranes (skin) that corresponds directly with the fungal cupping erosions in histologic sections of skin that are the current gold standard for diagnosis of WNS. Between March 2009 and April 2012, wing membranes from 168 North American bat carcasses submitted to the US Geological Survey National Wildlife Health Center were examined with the use of both UV light and histology. Comparison of these techniques showed that 98.8% of the bats with foci of orange-yellow wing fluorescence (n=80) were WNS-positive based on histologic diagnosis; bat wings that did not fluoresce under UV light (n=88) were all histologically negative for WNS lesions. Punch biopsy samples as small as 3 mm taken from areas of wing with UV fluorescence were effective for identifying lesions diagnostic for WNS by histopathology. In a nonlethal biopsy-based study of 62 bats sampled (4-mm diameter) in hibernacula of the Czech Republic during 2012, 95.5% of fluorescent (n=22) and 100% of nonfluorescent (n=40) wing samples were confirmed by histopathology to be WNS positive and negative, respectively. This evidence supports use of long-wave UV light as a nonlethal and field-applicable method to screen bats for lesions indicative of WNS. Further, UV fluorescence can be used to guide targeted, nonlethal biopsy sampling for follow-up molecular testing, fungal culture analysis, and histologic confirmation of WNS.

Nonlethal screening of bat-wing skin with the use of ultraviolet fluorescence to detect lesions indicative of white-nose syndrome

Science.gov (United States)

Turner, Gregory G.; Meteyer, Carol U.; Barton, Hazel; Gumbs, John F.; Reeder, DeeAnn M.; Overton, Barrie; Bandouchova, Hana; Bartonička, Tomáš; Martínková, Natália; Pikula, Jiri; Zukal, Jan; Blehert, David S.

2014-01-01

Definitive diagnosis of the bat disease white-nose syndrome (WNS) requires histologic analysis to identify the cutaneous erosions caused by the fungal pathogen Pseudogymnoascus [formerly Geomyces] destructans (Pd). Gross visual inspection does not distinguish bats with or without WNS, and no nonlethal, on-site, preliminary screening methods are available for WNS in bats. We demonstrate that long-wave ultraviolet (UV) light (wavelength 368–385 nm) elicits a distinct orange–yellow fluorescence in bat-wing membranes (skin) that corresponds directly with the fungal cupping erosions in histologic sections of skin that are the current gold standard for diagnosis of WNS. Between March 2009 and April 2012, wing membranes from 168 North American bat carcasses submitted to the U.S. Geological Survey National Wildlife Health Center were examined with the use of both UV light and histology. Comparison of these techniques showed that 98.8% of the bats with foci of orange–yellow wing fluorescence (n = 80) were WNS-positive based on histologic diagnosis; bat wings that did not fluoresce under UV light (n = 88) were all histologically negative for WNS lesions. Punch biopsy samples as small as 3 mm taken from areas of wing with UV fluorescence were effective for identifying lesions diagnostic for WNS by histopathology. In a nonlethal biopsy-based study of 62 bats sampled (4-mm diameter) in hibernacula of the Czech Republic during 2012, 95.5% of fluorescent (n = 22) and 100% of nonfluorescent (n = 40) wing samples were confirmed by histopathology to be WNS positive and negative, respectively. This evidence supports use of long-wave UV light as a nonlethal and field-applicable method to screen bats for lesions indicative of WNS. Further, UV fluorescence can be used to guide targeted, nonlethal biopsy sampling for follow-up molecular testing, fungal culture analysis, and histologic confirmation of WNS.

Novel grading system for quantification of cystic macular lesions in Usher syndrome.

Science.gov (United States)

Sliesoraityte, Ieva; Peto, Tunde; Mohand-Said, Saddek; Sahel, Jose Alain

2015-12-10

To evaluate novel grading system used to quantify optical coherence tomography (OCT) scans for cystic macular lesions (CML) in Usher syndrome (USH) patients, focusing on CML associated alterations in MOY7A and USH2A mutations. Two readers evaluated 76 patients' (mean age 42 ± 14 years) data prospectively uploaded on Eurush database. OCT was used to obtain high quality cross-sectional images through the fovea. The CML was graded as none, mild, moderate or severe, depending on the following features set: subretinal fluid without clearly detectable CML boundaries; central macular thickness; largest diameter of CML; calculated mean of all detectable CML; total number of detectable CML; retinal layers affected by CML. Intra-and inter-grader reproducibility was evaluated. CML were observed in 37 % of USH eyes, while 45 % were observed in MYO7A and 29 % in USH2A cases. Of those with CML: 52 % had mild, 22 % had moderate and 26 % had severe changes, respectively. CML were found in following retinal layers: 50 % inner nuclear layer, 44 % outer nuclear layer, 6 % retinal ganglion cell layer. For the inter-grader repeatability analysis, agreements rates for CML were 97 % and kappa statistics was 0.91 (95 % CI 0.83-0.99). For the intra-grader analysis, agreement rates for CML were 98 %, while kappa statistics was 0.96 (95 % CI 0.92-0.99). The novel grading system is a reproducible tool for grading OCT images in USH complicated by CML, and potentially could be used for objective tracking of macular pathology in clinical therapy trials.

Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report.

Science.gov (United States)

Kulkarni, Gayithri Harish; Khaji, Shahanavaj I; Metkari, Suryakant; Kulkarni, Harish S; Kulkarni, Reshma

2014-07-01

Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice.

Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report

Directory of Open Access Journals (Sweden)

Gayithri Harish Kulkarni

2014-01-01

Full Text Available Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome. Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice.

Transient Global Amnesia with Reversible White Matter Lesions: A Variant of Posterior Reversible Encephalopathy Syndrome?

Directory of Open Access Journals (Sweden)

Tomoki Nakamizo

2015-01-01

Full Text Available Transient global amnesia (TGA is a self-limited disease characterized by isolated amnesia, which resolves within 24 h. In contrast, posterior reversible encephalopathy syndrome (PRES is a potentially life-threatening disease that usually presents with seizures, altered mental status, headache, and visual disturbances. It is characterized by reversible vasogenic edema that predominantly involves the parieto-occipital subcortical white matter as shown by neuroimaging studies. To date, there have been no reported cases of PRES with a clinical course resembling TGA. Here we report the case of a 58-year-old woman who presented with isolated amnesia and headache. On admission, her blood pressure was 187/100 mmHg. She had complete anterograde amnesia and slight retrograde amnesia without other neurological findings. After the treatment of her hypertension, the amnesia resolved within 24 h. Although the initial magnetic resonance image (MRI was almost normal, the fluid attenuation inversion recovery (FLAIR images of the MRI on the next day revealed several small foci of high intensity areas in the fronto-parieto-occipital subcortical white matter, presumed to be vasogenic edema in PRES. The lesions disappeared one month later. This case suggests that PRES can mimic the clinical course of TGA. PRES should be considered in the differential diagnosis for TGA.

Intra-articular fibroma of tendon sheath in a knee joint associated with iliotibial band friction syndrome

Energy Technology Data Exchange (ETDEWEB)

Ha, Dong Ho; Choi, Sun Seob; Kim, Soo Jin; Lih, Wang [Dong-A University Medical Center, Busan (Korea, Republic of)

2015-02-15

Iliotibial band (ITB) friction syndrome is a common overuse injury typically seen in the active athlete population. A nodular lesion on the inner side of the ITB as an etiology or an accompanying lesion from friction syndrome has been rarely reported. A 45-year-old male presented with recurrent pain and a movable nodule at the lateral joint area, diagnosed as ITB friction syndrome. The nodule was confirmed as a rare intra-articular fibroma of the tendon sheath (FTS) on the basis of histopathologic findings. We describe the MRI findings, arthroscopic and pathologic features, in this case of intra-articular FTS presenting with ITB friction syndrome.

Intra-articular fibroma of tendon sheath in a knee joint associated with iliotibial band friction syndrome

International Nuclear Information System (INIS)

Ha, Dong Ho; Choi, Sun Seob; Kim, Soo Jin; Lih, Wang

2015-01-01

Iliotibial band (ITB) friction syndrome is a common overuse injury typically seen in the active athlete population. A nodular lesion on the inner side of the ITB as an etiology or an accompanying lesion from friction syndrome has been rarely reported. A 45-year-old male presented with recurrent pain and a movable nodule at the lateral joint area, diagnosed as ITB friction syndrome. The nodule was confirmed as a rare intra-articular fibroma of the tendon sheath (FTS) on the basis of histopathologic findings. We describe the MRI findings, arthroscopic and pathologic features, in this case of intra-articular FTS presenting with ITB friction syndrome.

Opsoclonus-myoclonus syndrome: Correlation of radiographic and pathological observations

International Nuclear Information System (INIS)

Tuchman, R.F.; Alvarez, L.A.

1989-01-01

We report a case of a child with opsoclonus-myoclonus syndrome. Neuroradiological studies indicated a lesion in the cerebellar vermis. A cerebellar biopsy revealed changes consisting of Purkinje and granular cell loss with gliosis. This case report documents the correlation of radiologic and pathological findings in a patient with opsoclonus-myoclonus syndrome. (orig.)

Radiologic features in histiocytosis syndrome

International Nuclear Information System (INIS)

Hong, Sung Mo; Cho, Byung Jae; Yeon, Kyung Mo

1980-01-01

Histiocytosis syndrome is not rare disease of unknown etiology, characterized by development of granulomatous lesions with histiocytic proliferation. Authors analyzed 22 cases, which had been confirmed as histiocytosis syndrome from 1971 to Feb. 1980 with special attention to 15 cases showing positive findings on radiological examinations. The results are as follows. 1. Overall male to female ratio was about 2:1. The majority were between 1 and 7 years of age. 2. Skeletal system was involved in orders as follows: skull, pelvis, femur, rib, spine. 3. Four cases of pulmonary involvement were experienced. All cases had interstitial involvement with reticulonodular densities on roentgenograms. 4. We had experienced a pituitary tumor, presumably localized histiocytic mass, in a patient with diabetes insipidus. 5. In long bone involvement, diaphysis or metaphysis was usually involved, but in one patient, lesion were extended into epiphysis. 6. One case of platyspondyly was found, with symmetrical compression

Radiologic features in histiocytosis syndrome

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Hong, Sung Mo; Cho, Byung Jae; Yeon, Kyung Mo [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

1980-12-15

Histiocytosis syndrome is not rare disease of unknown etiology, characterized by development of granulomatous lesions with histiocytic proliferation. Authors analyzed 22 cases, which had been confirmed as histiocytosis syndrome from 1971 to Feb. 1980 with special attention to 15 cases showing positive findings on radiological examinations. The results are as follows. 1. Overall male to female ratio was about 2:1. The majority were between 1 and 7 years of age. 2. Skeletal system was involved in orders as follows: skull, pelvis, femur, rib, spine. 3. Four cases of pulmonary involvement were experienced. All cases had interstitial involvement with reticulonodular densities on roentgenograms. 4. We had experienced a pituitary tumor, presumably localized histiocytic mass, in a patient with diabetes insipidus. 5. In long bone involvement, diaphysis or metaphysis was usually involved, but in one patient, lesion were extended into epiphysis. 6. One case of platyspondyly was found, with symmetrical compression.

A case report of Wyburn-Mason syndrome and review of the literature

International Nuclear Information System (INIS)

Dayani, P.N.; Sadun, A.A.

2007-01-01

Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi. We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n = 26) in the English literature since 1973. In this review, we report on a 41/2-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome. The presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation. (orig.)

Is there a critical lesion site for unilateral spatial neglect? A meta-analysis using activation likelihood estimation.

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Pascal eMolenberghs

2012-04-01

Full Text Available The critical lesion site responsible for the syndrome of unilateral spatial neglect has been debated for more than a decade. Here we performed an activation likelihood estimation (ALE to provide for the first time an objective quantitative index of the consistency of lesion sites across anatomical group studies of spatial neglect. The analysis revealed several distinct regions in which damage has consistently been associated with spatial neglect symptoms. Lesioned clusters were located in several cortical and subcortical regions of the right hemisphere, including the middle and superior temporal gyrus, inferior parietal lobule, intraparietal sulcus, precuneus, middle occipital gyrus, caudate nucleus and posterior insula, as well as in the white matter pathway corresponding to the posterior part of the superior longitudinal fasciculus. Further analyses suggested that separate lesion sites are associated with impairments in different behavioural tests, such as line bisection and target cancellation. Similarly, specific subcomponents of the heterogeneous neglect syndrome, such as extinction and allocentric and personal neglect, are associated with distinct lesion sites. Future progress in delineating the neuropathological correlates of spatial neglect will depend upon the development of more refined measures of perceptual and cognitive functions than those currently available in the clinical setting.

A Case: Eight-and-A-Half Syndrome

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Cennet Nalan Kuş

2007-12-01

Full Text Available Scientific BACKGROUND: The combination of clinical one-and-a-half syndrome together with cranial nerve VII palsy is known to as eight-and-a-half syndrome. It localized the pathology to the pons. OBJECTIVE: To report a case having clinical and radiologic findings typical of eight-and-a-half syndrome. CASE: 65 year old man with hypertension presented with sudden onset of binocular diplopia left facial weakness. Magnetic resonance imaging demostrated a small lesion in the left paramedian pontine tegmentum. CONCLUSION: To our knowledge, this is the first report of a case of eight-and-a-half syndrome in Turkish literature

Small bowel involvement documented by capsule endoscopy in Churg-Strauss syndrome.

Science.gov (United States)

Beye, Birane; Lesur, Gilles; Claude, Pierre; Martzolf, Lionel; Kieffer, Pierre; Sondag, Daniel

2015-01-01

Churg-Strauss syndrome is a small and medium vessel vasculitis and is also known as allergic granulomatous angiitis. Gastrointestinal involvement is common in patients with Churg-Strauss syndrome (20-50%). The most common symptoms are abdominal pain, diarrhoea and occasionally gastrointestinal bleeding and perforation. We present a case of Churg-Strauss syndrome with small bowel lesions documented by video capsule endoscopy.

Oncogenic osteomalacia: a clinicopathologic study of 17 bone lesions.

Science.gov (United States)

Park, Y. K.; Unni, K. K.; Beabout, J. W.; Hodgson, S. F.

1994-01-01

Oncogenic osteomalacia is an unusual and rare clinicopathologic syndrome characterized by mesenchymal tumors that apparently produce osteomalacia and biochemical abnormalities consisting of hypophosphatemia, normocalcemia, and increased levels of alkaline phosphatase. We collected from the Mayo Clinic files and from our consultation files the records for 17 cases of osteomalacia associated with bone lesions. There were five cases of fibrous dysplasia, three of hemangiopericytoma, and two of phosphaturic mesenchymal tumor. There was one case each of osteosarcoma, chondroblastoma, chondromyxoid fibroma, malignant fibrous histiocytoma, giant cell tumor, metaphyseal fibrous defect, and hemangioma. In this study we can figure out that the most common characteristic histologic features of our cases were hemangiopericytomatous vascular proliferation, fine lace-like stromal calcification, and stromal giant cells. In most of the cases, the clinical and biochemical symptoms and signs resolved soon after complete resection of the lesion. When the lesion recurred or metastasized, the symptoms and signs also recurred. PMID:7848576

Happle-tinschert syndrome: Report of a case with hemimegalencephaly

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Oezgur, Anil; Cabuk, Gonca; Arpaci, Rabia; Baz, Kiymet; Katar, Demet [Mersin University Faculty of Medicine, Mersin (Turkmenistan)

2014-08-15

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

Happle-tinschert syndrome: Report of a case with hemimegalencephaly

International Nuclear Information System (INIS)

Oezgur, Anil; Cabuk, Gonca; Arpaci, Rabia; Baz, Kiymet; Katar, Demet

2014-01-01

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

Ramsay Hunt syndrome in a child – case report

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Joanna Grabowska

2016-12-01

Full Text Available Introduction. Ramsay Hunt syndrome is a rare disease characterized by complications of herpes zoster oticus. This syndrome is defined by characteristic skin lesions with paresis of the facial and/or vestibulocochlear nerve. Objective. To present a case of a 14-year-old child with Ramsay Hunt syndrome. Case report . A 14-year-old patient was admitted to the Department of Dermatology due to vesicular lesions in the left auricular region. On medical examination, insufficiency of the left eyelid, asymmetry of the facial lines, drooping of the left corner of the mouth, and smoothing of the forehead were observed. According to the House-Brackmann scale, the patient had paresis (grade IV of the facial nerve. The patient was treated with intravenous acyclovir, antibiotics and anti-inflammatory drugs. Supplementation with vitamin B and rehabilitation procedures were also introduced. Conclusions . Ramsay Hunt syndrome is very rare in the pediatric population. It requires interdisciplinary cooperation between doctors. The presented case confirms the validity of therapy with acyclovir and prednisone and rehabilitation.

Bright intracranial lesions on diffusion-weighted images: a pictorial review

International Nuclear Information System (INIS)

Choi, Dae Seob

2006-01-01

Diffusion-weighted imaging (DWI) is a MR sequence that is used to evaluate the rate of microscopic water diffusion within the tissues. The ability to measure the rate of water diffusion is important because this is frequently altered in various disease processes. Generally, the lesions with restricted water diffusion show bright intensity on DWI, but the lesions without restricted water diffusion can also show bright intensity on DWI, which is called the 'T2 shine through effect'. With DWI, we can sensitively detect hyperacute infarction (within 6 hours after symptom onset), and this is difficult to detect with using CT and the conventional MR sequenced. The acute and subacute lesions of hypoxic-ischemic encephalopathy and carbon monoxide intoxication also show bright intensity on the DWI. The other diseases that can show bright intensity on the DWI include acute and subacute diffuse axonal injury lesion, hyperacute and late subacute hematomas, cerebral abscess, subdural empyema, acute herpes encephalitis, various tumors and such degenerative and demyelinating diseases as multiple sclerosis, posterior reversible encephalopathy syndrome, Wilson's disease and Wernicke's encephalopathy

Bright intracranial lesions on diffusion-weighted images: a pictorial review

Energy Technology Data Exchange (ETDEWEB)

Choi, Dae Seob [Gyeongsang National University College of Medicine, Jinju (Korea, Republic of)

2006-06-15

Diffusion-weighted imaging (DWI) is a MR sequence that is used to evaluate the rate of microscopic water diffusion within the tissues. The ability to measure the rate of water diffusion is important because this is frequently altered in various disease processes. Generally, the lesions with restricted water diffusion show bright intensity on DWI, but the lesions without restricted water diffusion can also show bright intensity on DWI, which is called the 'T2 shine through effect'. With DWI, we can sensitively detect hyperacute infarction (within 6 hours after symptom onset), and this is difficult to detect with using CT and the conventional MR sequenced. The acute and subacute lesions of hypoxic-ischemic encephalopathy and carbon monoxide intoxication also show bright intensity on the DWI. The other diseases that can show bright intensity on the DWI include acute and subacute diffuse axonal injury lesion, hyperacute and late subacute hematomas, cerebral abscess, subdural empyema, acute herpes encephalitis, various tumors and such degenerative and demyelinating diseases as multiple sclerosis, posterior reversible encephalopathy syndrome, Wilson's disease and Wernicke's encephalopathy.

Sweet's Syndrome Successfully Treated with Granulocyte and Monocyte Adsorption Apheresis

OpenAIRE

Fujii, Asami; Mizutani, Yoko; Hattori, Yuki; Takahashi, Tomoko; Ohnishi, Hidenori; Yoshida, Shozo; Seishima, Mariko

2017-01-01

Sweet’s syndrome is a neutrophilic dermatosis characterized by an abrupt onset of painful erythematous lesions showing neutrophilic infiltrates in the dermis. Fever and an elevated neutrophil level are generally observed. Sweet’s syndrome may be idiopathic, malignancy-associated, or drug-induced (mainly involving granulocyte colony-stimulating factor (G-CSF) administration). Although systemic corticosteroids are usually effective, the symptoms of Sweet’s syndrome recur in some refractory case...

Intractable Postoperative Wounds Caused by Self-Inflicted Trauma in a Patient with Cutaneous Munchausen Syndrome Presenting as a Pyoderma Gangrenosum-Like Lesion

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Keiko Inui

2016-04-01

Full Text Available A 50-year-old Japanese woman consulted the emergency department of our hospital for bleeding due to an intractable postoperative wound on the lower abdomen; the postoperative wound was owing to a laparoscopic cholecystectomy performed 1 year previously for acute cholecystitis. She presented with a painful ulcer on her right lower abdomen. She also presented with multiple scars, skin grafts on the extremities, and a missing left lower leg, the causes for all of which were unexplained. The results of her blood test were normal, except for the hemoglobin level. Histology of the skin biopsy specimen from the ulcer did not show any specific findings. The previous surgeon who had performed the laparoscopic cholecystectomy revealed that surgical wound dehiscence had occurred during her admission. After a body restraint had been applied, the ulcer improved. Medical records indicated that she had been admitted to the department of plastic surgery at our hospital for skin grafting of a leg ulcer. During that admission, she refused to consult with the department of psychiatry, although the staff suspected mental disorders. Therefore, we diagnosed her with cutaneous Munchausen syndrome. After vacuum-assisted closure (VAC therapy had been performed to prevent her from traumatizing the ulcer again, it rapidly became granulated and reepithelialized. Munchausen syndrome is characterized by feigning physical symptoms to seek attention. Patients self-inflict numerous lesions, keep getting admitted to different hospitals, and feign acute illness, usually spectacular diseases. VAC therapy may be effective for preventing patients with cutaneous Munchausen syndrome from traumatizing their wounds.

Intractable Postoperative Wounds Caused by Self-Inflicted Trauma in a Patient with Cutaneous Munchausen Syndrome Presenting as a Pyoderma Gangrenosum-Like Lesion.

Science.gov (United States)

Inui, Keiko; Hanafusa, Takaaki; Namiki, Takeshi; Ueno, Makiko; Igawa, Ken; Yokozeki, Hiroo

2016-01-01

A 50-year-old Japanese woman consulted the emergency department of our hospital for bleeding due to an intractable postoperative wound on the lower abdomen; the postoperative wound was owing to a laparoscopic cholecystectomy performed 1 year previously for acute cholecystitis. She presented with a painful ulcer on her right lower abdomen. She also presented with multiple scars, skin grafts on the extremities, and a missing left lower leg, the causes for all of which were unexplained. The results of her blood test were normal, except for the hemoglobin level. Histology of the skin biopsy specimen from the ulcer did not show any specific findings. The previous surgeon who had performed the laparoscopic cholecystectomy revealed that surgical wound dehiscence had occurred during her admission. After a body restraint had been applied, the ulcer improved. Medical records indicated that she had been admitted to the department of plastic surgery at our hospital for skin grafting of a leg ulcer. During that admission, she refused to consult with the department of psychiatry, al-though the staff suspected mental disorders. Therefore, we diagnosed her with cutaneous Munchausen syndrome. After vacuum-assisted closure (VAC) therapy had been performed to prevent her from traumatizing the ulcer again, it rapidly became granulated and reepithelialized. Munchausen syndrome is characterized by feigning physical symptoms to seek attention. Patients self-inflict numerous lesions, keep getting admitted to different hospitals, and feign acute illness, usually spectacular diseases. VAC therapy may be effective for preventing patients with cutaneous Munchausen syndrome from traumatizing their wounds.

Oral mucosal manifestations in primary and secondary Sjögren syndrome and dry mouth syndrome

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Katarzyna Błochowiak

2016-02-01

Full Text Available Introduction : One of the most important symptoms of Sjögren syndrome is xerostomia. The oral cavity deprived of saliva and its natural lubricative, protective and antibacterial properties is prone to a number of unfavourable consequences. Aim : To present the most important lesions on the oral mucosa in primary and secondary Sjögren syndrome and in dry mouth syndrome. Material and methods: The study group comprised 55 patients including 52 women and 3 men aged 20–72 years (average: 28.25 years. Results : Basing on the accepted criteria, primary Sjögren syndrome was diagnosed in 22 (40% patients, secondary Sjögren syndrome in 18 (32.7% patients, and dry mouth syndrome in 15 (27.27% patients. The physical examination and the examination of the mouth were performed and history was elicited from every patient. Conclusions : The most common pathologies appearing on the oral mucosa in primary and secondary Sjögren syndrome are angular cheilitis, cheilitis, increased lip dryness as well as non-specific ulcerations, aphthae and aphthoid conditions.

Brain stem type neuro-Behcet's syndrome

International Nuclear Information System (INIS)

Kataoka, Satoshi; Hirose, Genjiro; Kosoegawa, Hiroshi; Oda, Rokuhei; Yoshioka, Akira

1987-01-01

Two cases of brain stem type Neuro-Behcet's syndrome were evaluated by brain CT and Magnetic Resonance Imaging (Super-conducting type, 0.5 tesla) to correlate with the neurological findings. In the acute phase, low density area with peripheral enhancement effect and mass effect were seen at the brain stem in brain CT. MRI revealed a extensive high intensity signal area mainly involving the corticospinal tract in the meso-diencephalon as well as pons by T 2 weighted images (spin echo, TR = 1, 600 msec, TE = 90 msec) and the value of T 1 , T 2 , at the brain stem lesion were prolonged moderately. After high dose steroid treatment, the low density area in brain CT and high signal area in MRI were gradually reduced in its size. Peripheral enhancement effect in brain CT disappeared within 10 months in case 1, one month in the other case. In the chronic stage, the reduction of low density area and atrophy of brain stem were noted in brain CT. The lesion in chronic stage had low intensity in T 1 , T 2 weighted images and the T 1 , T 2 values at the lesion were mildly prolonged in MRI. Sequentially CT with enhancement and MRI examinations with T 1 , T 2 weighted images were useful to detect the lesion and to evaluate the activity, evolution of brain stem type Neuro-Behcet's syndrome. (author)

MRI evaluation of cerebral perfusion changes in patients with MELAS syndrome

International Nuclear Information System (INIS)

Xie Sheng; Qi Zhaoyue; Xiao Jiangxi; Jiang Xuexiang; Yang Yanling

2008-01-01

Objective: To detect the changes of cerebral perfusion in patients with MELAS syndrome by using MR perfusion technique. Methods: Thirteen patients with MELAS syndrome and 13 controls with normal neurological conditions were scanned with the sequence of flow-sensitive alternating inversion recovery exempting separate T 1 measurement (FAIREST). Their rCBF values were obtained in regions of bilateral basilar nuclei and thalami, as well as bilateral temporal lobes and occipital lobes. Regression analysis was carried out to determine the effect of location and side on the measurement of rCBF in controls. One-way ANOVA was conducted to compare rCBF values among the control group, the lesion ROIs and normal ROIs of the MELAS syndrome group. Results: The values of rCBF were 0.83 ± 0.23, 1.17± 0.30, 0.93 ± 0.28, and 1.11 ± 0.25 for the left basilar ganglia, thalamus, temporal lobe, and occipital lobe respectively, while they were 0.77 ± 0.15, 1.03 ± 0.34, 1.06 ± 0.23, and 1.09 ± 0.23 for the right basilar ganglia, thalamus, temporal lobe, and occipital lobe respectively. Regression analysis revealed no effect of location and side on the rCBF (P>0.05). The rCBF value for control group was 1.00 + 0. 28, while it was 1.01 ± 0.31 for the normal ROIs and 1.95 ± 0.43 for the lesion ROIs in the MELAS syndrome group (F=54.99, P<0.01). The rCBF of the lesion ROIs in the MELAS syndrome group was significantly higher than the normal ROIs and the control group. Conclusion: CBF maps can reveal changes of cerebral blood flow in patients with ictal MELAS, which suggests increased perfusion in the stroke-like lesions. (authors)

[A case of MEWDS. "The multiple evanescent white-dot syndrome"].

Science.gov (United States)

Lefrançois, A; Hamard, H; Corbe, C; Schmitt, A; Badelon, I; Vidal, A

1989-01-01

A young white man developed acute bilateral visual loss with no previous general illness. Ophthalmoscopic examination showed multiple small yellow-white lesions scattered throughout the posterior poles and mild periphery fundus. There was also fine granularity of two foveal areas and one optic disc margin was blurred. Fluorescein angiography showed early hyperfluorescence of the lesions and late staining of the retinal pigment epithelium. Electrophysiologic abnormalities were transient, asymmetric, more marked in photopic than in scotopic. The origin could be in retinal bipolar cells. These lesions regressed, with return of normal visual function within several weeks. These clinical findings are different from others acute inflammatory diseases primarily involving retinal pigment epithelium and photoreceptors. This aspect is usually described as "multiple evanescent white dot syndrome". The etiology of this syndrome remains unknown with no evidence of systemic disease. A history of flulike illness is rare.

MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions

OpenAIRE

Xu, Chao; Zhang, Xinxian; Dong, Lina; Zhu, Bin; Xin, Tao

2017-01-01

We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due...

Costello syndrome: report and review

NARCIS (Netherlands)

van Eeghen, A. M.; van Gelderen, I.; Hennekam, R. C.

1999-01-01

We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients

Sturge-Weber syndrome

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Natarajan Manivannan

2012-01-01

Full Text Available Encephalotrigeminal angiomatosis (Sturge-Weber syndrome is a rather uncommon congenital condition characterized by the combination of venous angioma of the leptomeninges over the cerebral cortex with ipsilateral angiomatous lesions of the face, and sometimes the skull, jaws, and oral soft tissues. A case of portwine stain with intraoral gingival hemangioma is presented. There were no other systemic manifestations. Patient reported with a complaint of localized tumor-like swelling in gums. Based on the presence of sharply demarcated vascular lesion unilaterally on the face and with ipsilateral intraoral vascular hyperplasia in the lip and gingiva, a variant of encephalotrigeminal angiomatosis was diagnosed. Ultrasound Doppler flowmetry was used to determine the blood flow. Dental management included plaque control instructions, scaling, root planning, and excision of the lesion done under general anesthesia. Close follow-up and meticulous plaque control have kept the oral condition under fairly good control.

Synovis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: A case of spine, pelvis, and anterior chest wall involvement, with overlooked plantar pustulosis

International Nuclear Information System (INIS)

Kim, Hyun Soo; Jeong, Soh Yong; Lee, Sujin; Baek, In Woon; Park, Jeongmi

2017-01-01

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an inflammatory clinical condition with aseptic bone lesions and characteristic skin manifestations. A 63-year-old woman presented with vague musculoskeletal symptoms including chronic buttock pain. The clinical work-up revealed multiple spine and osteoarticular involvement. Multilevel bone marrow edema and cortical erosions involving the spine, asymmetric sacroiliitis, and osteosclerosis of the sternoclavicular joint were consistent with a diagnosis of SAPHO syndrome. Considering SAPHO syndrome in the differential diagnosis, subsequent skin inspection revealed plantar pustulosis. Despite the unique feature of accompanying skin and skeletal lesions, skin lesions could be overlooked if not suspected

Synovis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: A case of spine, pelvis, and anterior chest wall involvement, with overlooked plantar pustulosis

Energy Technology Data Exchange (ETDEWEB)

Kim, Hyun Soo; Jeong, Soh Yong; Lee, Sujin; Baek, In Woon; Park, Jeongmi [Yeouido St. Mary' s Hospital, College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of)

2017-05-15

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an inflammatory clinical condition with aseptic bone lesions and characteristic skin manifestations. A 63-year-old woman presented with vague musculoskeletal symptoms including chronic buttock pain. The clinical work-up revealed multiple spine and osteoarticular involvement. Multilevel bone marrow edema and cortical erosions involving the spine, asymmetric sacroiliitis, and osteosclerosis of the sternoclavicular joint were consistent with a diagnosis of SAPHO syndrome. Considering SAPHO syndrome in the differential diagnosis, subsequent skin inspection revealed plantar pustulosis. Despite the unique feature of accompanying skin and skeletal lesions, skin lesions could be overlooked if not suspected.

Gorlin syndrome and bilateral ovarian fibroma

Science.gov (United States)

Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

2012-01-01

INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

Milia-like idiopathic calcinosis cutis in a child with Down syndrome.

Science.gov (United States)

Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami

2016-05-15

Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping.

Acute and chronic radiation syndrome in domestic animals

International Nuclear Information System (INIS)

Nuessel, M.

1974-11-01

The paper reports on the incidence and the clinical picture of the radiation syndrome in domestic animals, especially in pigs which are often used in animal experiments. The following parameters which influence the radiation reaction are discussed: type of irradiation (whole-body, partial-body and local irradiation), mean lethal radiation dose, radiation quality and RBE, age and individual radiosensitivity. The auther then describes the various symptoms of the radiation syndrome and the lesions which lead to death (death due to intestinal lesions, death following changes in the central nervous system). The next few chapters treat the symptoms manifested after chronic and internal irradiation. The paper closes with some remarks on the usability of irradiated animals for human consumption. (MG/AK) [de

Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease.

Science.gov (United States)

Tatsi, Christina; Stratakis, Constantine A

2018-03-01

Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. More rarely, neonatal CS presents as part of other syndromes such as McCune-Albright syndrome or Beckwith-Wiedemann syndrome. Management usually includes resection of the primary tumor with or without additional medical treatment, but manifestations may persist after resolution of hypercortisolemia. Published by Elsevier Inc.

Central Lesions With Selective Semicircular Canal Involvement Mimicking Bilateral Vestibulopathy

Directory of Open Access Journals (Sweden)

Luke Chen

2018-04-01

Full Text Available Bilateral vestibulopathy (BVP, which is due to peripheral lesions, may selectively involve certain semicircular canal (SCC. Recent eye movement recordings with search coil and video head impulse test (HIT have provided insight in central lesions that can cause bilateral and selective SCC deficit mimicking BVP. Since neurological signs or ocular motor deficits maybe subtle or absent, it is critical to recognize central lesions correctly since there is prognostic and treatment implication. Acute floccular lesions cause bilateral horizontal SCC (HC impairment while leaving vertical SCC function unaffected. Vestibular nuclear lesions affect bilateral HC and posterior SCC (PC function, but anterior SCC (AC function is spared. When both eyes are recorded, medial longitudinal fasciculus lesions cause horizontal dysconjugacy in HC function and catch-up saccades, as well as selective deficiency of PC over AC function. Combined peripheral and central lesions may be difficult to distinguish from BVP. Anterior inferior cerebellar artery stroke causes two types of deficits: 1. ipsilateral pan-SCC deficits and contralateral HC deficit and 2. bilateral HC deficit with vertical SCC sparing. Metabolic disorders such as Wernicke encephalopathy characteristically involve HC but not AC or PC function. Gaucher disease causes uniform loss of all SCC function but with minimal horizontal catch-up saccades. Genetic cerebellar ataxias and cerebellar-ataxia neuropathy vestibular areflexia syndrome typically do not spare AC function. While video HIT does not replace the gold-standard, search coil HIT, clinicians are now able to rapidly and accurately identify specific pattern of SCC deficits, which can aid differentiation of central lesions from BVP.

Angiography, gingival hyperplasia and Sturge-Weber syndrome: report of case.

Science.gov (United States)

Wilson, S; Venzel, J M; Miller, R

1986-01-01

This syndrome, also known as encephalotrigeminal angiomatosis, is a condition with multiple clinical findings, including vascular anomalies and intraoral involvement. The patient was a nine-year-old black boy with Sturge-Weber syndrome. He had a lesion removed and diagnosed as pyogenic granuloma. There were no complications and the tissue healed normally.

Babinski-Nageotte Syndrome Diagnosed in Postpartum Period

Directory of Open Access Journals (Sweden)

Serdar Oruç

2016-01-01

Full Text Available Babinski-Nageotte Syndrome (BNS is one of the brainstem syndromes characterized by muscle weakness in the opposite half of the body with classic Wallenberg findings. According to our literature survey, only a few cases have been reported and none of them was in the postpartum period. We report a case of a typical BNS in a postpartum woman with an ischemic lesion in the medulla oblongata shown on magnetic resonance imaging.

A rare ultrasound presentation of splenic lesion in a patient with disseminated Penicillium marneffei infection

International Nuclear Information System (INIS)

Tan, Rong; Xiao, Ying; Tang, Qi; Zhang, Ying

2013-01-01

Focal hypoechoic lesions in the spleen often represent malignant disease in patients with acquired immune deficiency syndrome (AIDS). However, some infection can produce similar images. The abdominal ultrasound imaging about disseminated Penicillium marneffei (P. marneffei) infection has been rarely described in the medical literature. This case report presents a 47-year-old Chinese man with newly diagnosed AIDS who was infected by P. marneffei. An isolated splenic lesion was detected by ultrasound scan before, and assessed following, diagnostic treatment.

Reiter's Syndrome associated with the Acquired Immunodeficiency Syndrome: a case report

Directory of Open Access Journals (Sweden)

J.B.N.S. Malta

Full Text Available The association of Reiter's Syndrome (RS with the Acquired Immunodeficiency Syndrome (AIDS is seldom mentioned in the medical literature. This report illustrates this relationship in a 46 years old male patient suffering from AIDS (CD4+ = 240 cells/mm³, CD8+ = 1,301 cells/mm³ and viral load = 330,000 copies/ml, pulmonary tuberculosis (positive catarrhal bacilluscopy, and RS. The diagnosis of RS was based on the combination of dermatological and articular alterations. The patient's cutaneous lesions were characterized by exfoliation and the formation of crusts located on the face, scalp, genitals, hands, and feet; onychodystrophy with opacity; yellowish coloring; and hyperkeratosis of the nails. Articular lesions led to progressive deformity of phalangeal joints of the hands, and intensive arthralgia, mainly of the larger joints (shoulders, elbows, hips and knees. AIDS treatment was administered with anti-retroviral drugs (zidovudine and didanosine; for tuberculosis (isoniazid, rifampicine, and pyrazinamide; and (prednisone and inometacine for the RS. The patient recovered with the improvement of articular symptoms; however, on the eighth day of treatment, the patient showed significant hemoptysis and hypovolemic shock, and died. The association of RS and HIV infection is reviewed.

LESIONES ESTROMALES Y TROFOBLÁSTICAS EN VELLOSIDADES PLACENTARIAS DE GESTANTES CON SÍNDROME ANTIFOSFOLÍPIDO EN TERAPIA ANTITROMBÓTICA.

Directory of Open Access Journals (Sweden)

Pereira L

2016-02-01

Full Text Available Objective: Describe and quantify stromal and trophoblastic lesions in placental villi of pregnant with antiphospholipid syndrome in antithrombotic therapy. Materials and Methods: cross-sectional descriptive study in which two placentas of pregnant women at term associated with antiphospholipid syndrome in therapy combined were analyzed. To control a placenta at term of healthy pregnant women was analyzed. Central and peripheral regions of each placenta were processed with hematoxylin-eosin, evaluating at the optical microscope 5 quantitative variables which were analyzed by ANOVA and Tukey test. Results: placental maturity was observed. Significant differences (p < 0.05 were found between the control and pathological placenta in relation to the deposition of fibrinoid material, edema, fibrosis and syncytial nodules, showing a higher proportion of placenta villi affected in the placenta associated with antiphospholipid syndrome. In conclusion: Placentas of pregnant women with antiphospholipid syndrome treated show a higher percentage of villous stromal and trofoblastic lesions, being the edema one of the most significant. Finally we infer that antithrombotic therapy had beneficial effect in these patients achieving successful completion of pregnancy.

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

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Herman, Thomas E.; McAlister, William H. [Washington University School of Medicine, St. Louis Children' s Hospital, Mallinckrodt Institute of Radiology, St. Louis, MO (United States)

2005-02-01

Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts. (orig.)

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome

International Nuclear Information System (INIS)

Herman, Thomas E.; McAlister, William H.

2005-01-01

Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts. (orig.)

Idiopathic hypereosinophilic syndrome involving the liver: CT features vs. peripheral eosinophilia

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Kim, Kyung Sook; Lee, Moon Gyu; Won, Young Chul; Lee, Eun Hye; Noh, Han Na; Ha, Hyun Kwon; Kim, Pyo Nyun; Auh, Yong Ho [Ulsan Univ. College of Medicine, Seoul (Korea, Republic of)

1997-10-01

To correlate CT features with peripheral eosinophilia in patients with idiopathic hypereosinophilic syndrome involving the liver. During the last three years, features of liver involvement in nine of 20 patients with idiopathic hypereosinophilic syndrome were evaluated on CT. The shape and distribution of intrahepatic low densities and the presence of hepatomegaly and/or splenomegaly were reviewed on CT, and the percentage of eosinophils in peripheral blood was also determined. In seven cases, interval change in hepatic lesion and the percentage of eosinophils were reviewed on follow-up examination. On initial CT, varying low-density patterns were seen in the liver in all cases; hepatomegaly was seen in four cases, and hepatosplenomegaly in two. The percentage of eosinophils was 89% in a case with diffuse patch low densities in the liver, 65-85% in three cases with numerous nodular low density lesions, 12-29% in four cases with multiple (below ten) nodular or small geographic hypodense lesions, and 24% in a case with a single nodular hypodense lesion. On follow-up CT, seven patients showed a decrease in the percentage of eosinophils, and in six, improved intrahepatic low densities were seen. On CT, intrahepatic low densities were seen in patients with idiopathic hypereosinophilic syndrome, and these were distributed more extensively when peripheral eosinophilia was more severe. With improvement in peripheral eosinophilia, the low densities also improved.

Idiopathic hypereosinophilic syndrome involving the liver: CT features vs. peripheral eosinophilia

International Nuclear Information System (INIS)

Kim, Kyung Sook; Lee, Moon Gyu; Won, Young Chul; Lee, Eun Hye; Noh, Han Na; Ha, Hyun Kwon; Kim, Pyo Nyun; Auh, Yong Ho

1997-01-01

To correlate CT features with peripheral eosinophilia in patients with idiopathic hypereosinophilic syndrome involving the liver. During the last three years, features of liver involvement in nine of 20 patients with idiopathic hypereosinophilic syndrome were evaluated on CT. The shape and distribution of intrahepatic low densities and the presence of hepatomegaly and/or splenomegaly were reviewed on CT, and the percentage of eosinophils in peripheral blood was also determined. In seven cases, interval change in hepatic lesion and the percentage of eosinophils were reviewed on follow-up examination. On initial CT, varying low-density patterns were seen in the liver in all cases; hepatomegaly was seen in four cases, and hepatosplenomegaly in two. The percentage of eosinophils was 89% in a case with diffuse patch low densities in the liver, 65-85% in three cases with numerous nodular low density lesions, 12-29% in four cases with multiple (below ten) nodular or small geographic hypodense lesions, and 24% in a case with a single nodular hypodense lesion. On follow-up CT, seven patients showed a decrease in the percentage of eosinophils, and in six, improved intrahepatic low densities were seen. On CT, intrahepatic low densities were seen in patients with idiopathic hypereosinophilic syndrome, and these were distributed more extensively when peripheral eosinophilia was more severe. With improvement in peripheral eosinophilia, the low densities also improved

Pediatric imaging in DICER1 syndrome

International Nuclear Information System (INIS)

Bueno, Marta Tijerin; Martinez-Rios, Claudia; Ahyad, Rayan A.; Greer, Mary-Louise C.; Puente Gregorio, Alejandro de la; Villani, Anita; Malkin, David; Druker, Harriet; Van Engelen, Kalene; Gallinger, Bailey; Aronoff, Laura; Grant, Ronald

2017-01-01

DICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms. To determine the spectrum of abnormalities and imaging characteristics in patients with DICER1 syndrome at a tertiary pediatric hospital. This retrospective analysis evaluated imaging in patients ≤18 years with DICER1 germline variants between January 2004 and July 2016. An imaging database search including keywords pleuropulmonary blastoma, cystic nephroma, pineoblastoma, embryonal rhabdomyosarcoma, ovarian sex cord-stromal tumor, ovarian Sertoli-Leydig cell tumor and DICER1 syndrome, was cross-referenced against the institutional Cancer Genetics Program database, excluding patients with negative/unknown DICER1 gene testing. Sixteen patients were included (12 females; mean age at presentation: 4.2 years, range: 14 days to 17 years), with surveillance imaging encompassing the following modalities: chest X-ray and CT; abdominal, pelvic and neck US; and brain and whole-body MRI. Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), pineoblastoma (3), ovarian Sertoli-Leydig cell tumor (1), embryonal rhabdomyosarcoma (1) and renal sarcoma (1); benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), renal cysts (1) and pineal cyst (1). A common lesional appearance observed across modalities and organs was defined as the ''cracked windshield'' sign. The spectrum of DICER1-related tumors and the young age at presentation suggest early surveillance of at-risk patients is critical, while minimizing exposure to ionizing radiation. (orig.)

Pediatric imaging in DICER1 syndrome

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Bueno, Marta Tijerin; Martinez-Rios, Claudia; Ahyad, Rayan A.; Greer, Mary-Louise C. [The Hospital for Sick Children, Department of Diagnostic Imaging, Toronto, Ontario (Canada); University of Toronto, Department of Medical Imaging, Toronto, Ontario (Canada); Puente Gregorio, Alejandro de la [Hospital Son Espases, Radiotherapy Department, Palma de Mallorca (Spain); Villani, Anita; Malkin, David [University of Toronto, Department of Pediatrics, Toronto, Ontario (Canada); The Hospital for Sick Children, Division of Hematology/Oncology, Toronto, Ontario (Canada); The Hospital for Sick Children, Genetics and Genomic Biology Program, Toronto, Ontario (Canada); Druker, Harriet [The Hospital for Sick Children, Division of Hematology/Oncology, Toronto, Ontario (Canada); The Hospital for Sick Children, Department of Genetic Counselling, Toronto, Ontario (Canada); The Hospital for Sick Children, Department of Molecular Genetics, Toronto, Ontario (Canada); Van Engelen, Kalene [The Hospital for Sick Children, Genetics and Genomic Biology Program, Toronto, Ontario (Canada); Gallinger, Bailey [The Hospital for Sick Children, Genetics and Genomic Biology Program, Toronto, Ontario (Canada); The Hospital for Sick Children, Department of Genetic Counselling, Toronto, Ontario (Canada); The Hospital for Sick Children, Department of Molecular Genetics, Toronto, Ontario (Canada); Aronoff, Laura [The Hospital for Sick Children, Division of Hematology/Oncology, Toronto, Ontario (Canada); Grant, Ronald [University of Toronto, Department of Pediatrics, Toronto, Ontario (Canada); The Hospital for Sick Children, Division of Hematology/Oncology, Toronto, Ontario (Canada)

2017-09-15

DICER1 syndrome, arising from a mutation in the DICER1 gene mapped to chromosome 14q32, is associated with an increased risk of a range of benign and malignant neoplasms. To determine the spectrum of abnormalities and imaging characteristics in patients with DICER1 syndrome at a tertiary pediatric hospital. This retrospective analysis evaluated imaging in patients ≤18 years with DICER1 germline variants between January 2004 and July 2016. An imaging database search including keywords pleuropulmonary blastoma, cystic nephroma, pineoblastoma, embryonal rhabdomyosarcoma, ovarian sex cord-stromal tumor, ovarian Sertoli-Leydig cell tumor and DICER1 syndrome, was cross-referenced against the institutional Cancer Genetics Program database, excluding patients with negative/unknown DICER1 gene testing. Sixteen patients were included (12 females; mean age at presentation: 4.2 years, range: 14 days to 17 years), with surveillance imaging encompassing the following modalities: chest X-ray and CT; abdominal, pelvic and neck US; and brain and whole-body MRI. Malignant lesions (68.8% of patients) included pleuropulmonary blastoma (5), pineoblastoma (3), ovarian Sertoli-Leydig cell tumor (1), embryonal rhabdomyosarcoma (1) and renal sarcoma (1); benign lesions (37.5% of patients) included thyroid cysts (2), thyroid nodules (2), cystic nephroma (2), renal cysts (1) and pineal cyst (1). A common lesional appearance observed across modalities and organs was defined as the ''cracked windshield'' sign. The spectrum of DICER1-related tumors and the young age at presentation suggest early surveillance of at-risk patients is critical, while minimizing exposure to ionizing radiation. (orig.)

MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions.

Science.gov (United States)

Xu, Chao; Zhang, Xinxian; Dong, Lina; Zhu, Bin; Xin, Tao

2017-06-01

We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due to primary hypothyroidism; 38 cases (6.6%) of Rathke cleft cyst; 68 cases (11.8%) of empty sella syndrome; 16 cases (2.8%) of pituitary invasion from Langerhans cell histiocytosis; 2 cases (0.3%) of sellar regional arachnoid cyst and 39 cases (6.8%) of craniopharyngioma. MRI results showed that the height of anterior pituitary in patients was less than normal. Location, size and signals of posterior pituitary and pituitary stalk were normal in anterior pituitary dysplasia. In all cases pituitary hyperplasia was caused by hypothyroidism. MRI results showed that anterior pituitary was enlarged, and we detected upward apophysis and obvious homogeneous enhancement. There were no pituitary stalk interruption and abnormal signal. We also observed that after hormone replacement therapy the size of pituitary gland was reduced. Anterior pituitary atrophy was observed in Rathke cleft cyst, empty sella syndrome, sellar regional arachnoid cyst and craniopharyngioma. The microstructure of hypophysis and sellar region was studied with MRI. We detected pituitary lesions, and the characteristics of various pituitary diseases of GHD in children with short stature. It was concluded that in children with GHD caused by pituitary lesions, MRI was an excellent method for early diagnosis. This method offers clinical practicability and we believe it can be used for differential diagnosis and to monitor the therapeutic effects.

An unusual presentation of pediatric osteoblastoma in a patient with Klippel-Trenaunay-Weber syndrome: case report.

Science.gov (United States)

Wallace, Scott A; Ignacio, Romeo C; Klugh, Arnett; Gates, Gregory; Henry, Marion C W

2015-06-01

Osteoblastoma is an uncommon primary bone tumor that usually presents as a painful lesion in a long bone or in the spine. Osteoblastoma has been reported only twice in the literature in conjunction with systemic fibromatosis. The authors report the case of an 8-year-old girl with suspected Klippel-Trenaunay-Weber syndrome, a rare syndrome of systemic fibromatosis, who presented with a painless thoracic rib lesion that was found to be an osteoblastoma.

Multiple jaw cysts not associated with basal cell nevus syndrome

International Nuclear Information System (INIS)

Yoon, Suk Ja; Kang, Byung Cheol

2003-01-01

We present two cases of multiple jaw cysts not associated with basal cell nevus syndrome. Case 1 : a nine year-old boy visited CNU Hospital for orthodontic treatment and his radiographs showed cystic lesions surrounding the crowns of teeth 13 and 17 respectively, which were diagnosed as dentigerous cysts. Subsequently, two more cysts were found on his follow-up radiographs in 12 and 15 months. The two cysts were determined to be odontogenic keratocysts. The boy had no skeletal abnormalities and no skin lesions associated with basal cell nevus syndrome. Case 2: a fifty-eight year old man had three impacted third molars with pericoronal radiolucencies, which were diagnosed as dentigerous cysts. He had no additional abnormalities associated with basal cell nevus syndrome. Multiple jaw cysts can occur at any age, and periodic radiographic surveillance may be needed for any cases of impacted tooth.

Multiple jaw cysts not associated with basal cell nevus syndrome

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Yoon, Suk Ja; Kang, Byung Cheol [Chonnam National University College of Medicine, Kwangju (Korea, Republic of)

2003-09-15

We present two cases of multiple jaw cysts not associated with basal cell nevus syndrome. Case 1 : a nine year-old boy visited CNU Hospital for orthodontic treatment and his radiographs showed cystic lesions surrounding the crowns of teeth 13 and 17 respectively, which were diagnosed as dentigerous cysts. Subsequently, two more cysts were found on his follow-up radiographs in 12 and 15 months. The two cysts were determined to be odontogenic keratocysts. The boy had no skeletal abnormalities and no skin lesions associated with basal cell nevus syndrome. Case 2: a fifty-eight year old man had three impacted third molars with pericoronal radiolucencies, which were diagnosed as dentigerous cysts. He had no additional abnormalities associated with basal cell nevus syndrome. Multiple jaw cysts can occur at any age, and periodic radiographic surveillance may be needed for any cases of impacted tooth.

The diagnostic analysis using the CT scan, of cystic lesions in the cranial basis in pediatric cases

International Nuclear Information System (INIS)

Oshida, Kinya; Ishimori, Shoji; Okada, Ryoho.

1978-01-01

It is the purpose of this paper to evaluate the low-density lesions of those pediatric cases which were treated at this hospital in the six months beginning July, 1977, using a CT scan, EMI-1010 Type. Among 1500 consecutive cases diagnosed with the CT scan, 300 pediatric cases were included. We discuss particularly eight patients, two with arachnoidal cysts, two with cystic craniopharyngiomas, two with cystic cerebellar astrocytomas and two with Dandy-Walker syndromes, one of which was accompanied by corpus callosum agenesis. The distribution of ages was from 2 to 12 years. We calculated the matrix of each slice of these patients, CT scan in the cystic lesions, the area including the cystic lesion, ventricles and brain tissue, predominantly the white matter or interhemispheric cortex including white matter, without dye enhancement. The x-ray absorption values of the low-density lesions were definitely different according to the nature of the cystic contents. The mean values of x-ray absorption, the standard deviations, and the sample sizes of each area in the matrix were compared statistically with those of cystic lesions. The mean values of the arachnoidal cysts, the contents of which were almost like CSF, were 17 - 21; that of cystic craniopharyngiomas, the contents of which were a thick yellowic fluid with cholesterin crystals, were 23 - 28; those of cerebellar astrocytomas, with Froin positive fluid, were 22 - 24; the cystic lesions of the posterior fossa in the Dandy-Walker syndrome were 8 - 13. The difference in the x-ray absorption values (Hounsfield number) were compared statistically for analyzing the differential diagnosis of these low-density lesions by calculating the P-values. All of these lesions were verified by surgical explorations. (author)

Improved Detection of Microsatellite Instability in Early Colorectal Lesions.

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Jeffery W Bacher

Full Text Available Microsatellite instability (MSI occurs in over 90% of Lynch syndrome cancers and is considered a hallmark of the disease. MSI is an early event in colon tumor development, but screening polyps for MSI remains controversial because of reduced sensitivity compared to more advanced neoplasms. To increase sensitivity, we investigated the use of a novel type of marker consisting of long mononucleotide repeat (LMR tracts. Adenomas from 160 patients, ranging in age from 29-55 years old, were screened for MSI using the new markers and compared with current marker panels and immunohistochemistry standards. Overall, 15 tumors were scored as MSI-High using the LMRs compared to 9 for the NCI panel and 8 for the MSI Analysis System (Promega. This difference represents at least a 1.7-fold increase in detection of MSI-High lesions over currently available markers. Moreover, the number of MSI-positive markers per sample and the size of allelic changes were significantly greater with the LMRs (p = 0.001, which increased confidence in MSI classification. The overall sensitivity and specificity of the LMR panel for detection of mismatch repair deficient lesions were 100% and 96%, respectively. In comparison, the sensitivity and specificity of the MSI Analysis System were 67% and 100%; and for the NCI panel, 75% and 97%. The difference in sensitivity between the LMR panel and the other panels was statistically significant (p<0.001. The increased sensitivity for detection of MSI-High phenotype in early colorectal lesions with the new LMR markers indicates that MSI screening for the early detection of Lynch syndrome might be feasible.

The role of radiotherapy in the management of POEMS syndrome.

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Suh, Yang-Gun; Kim, Young-Suk; Suh, Chang-Ok; Kim, Yu Ri; Cheong, June-Won; Kim, Jin Seok; Cho, Jaeho

2014-11-28

POEMS syndrome is a paraneoplastic syndrome caused by an underlying plasma cell proliferative disease. In this study, we examined the treatment outcomes and role of radiotherapy in the management of POEMS syndrome. In total, 33 patients diagnosed with POEMS syndrome were analyzed. These patients presented with osteosclerotic myeloma (OSM, n = 13), Castleman's disease (CD, n = 4), OSM with CD (n = 10), and vascular endothelial growth factor elevation without gross lesions (VEGFe, n = 6), respectively. The patients were treated by radiotherapy alone (n = 4), chemotherapy alone (n = 16), or a combination thereof (n = 9). The clinical response rates of radiotherapy, chemotherapy, and radiotherapy plus chemotherapy were 75%, 69%, and 89%, respectively. In addition, the hematologic response rates were 50%, 69%, and 71%, respectively. Among the six patients with limited multiple lesions who underwent radiotherapy, the clinical symptoms were improved in five patients after radiotherapy. The median progression-free survival (PFS) was 51 months, and the median overall survival (OS) was 65 months. In univariate analysis, the administration of chemotherapy was significantly associated with better PFS (p = 0.007) and OS (p = 0.020). In contrast, underlying VEGFe was a significant factor worsening PFS (p = 0.035) and OS (p = 0.008). Radiotherapy produces a reliable clinical response and is effective in improving POEMS-associated symptoms that are refractory to chemotherapy in selected patients with clustered or limited multiple lesions that can be covered by single radiation field.

The role of radiotherapy in the management of POEMS syndrome

International Nuclear Information System (INIS)

Suh, Yang-Gun; Kim, Young-Suk; Suh, Chang-Ok; Kim, Yu Ri; Cheong, June-Won; Kim, Jin Seok; Cho, Jaeho

2014-01-01

POEMS syndrome is a paraneoplastic syndrome caused by an underlying plasma cell proliferative disease. In this study, we examined the treatment outcomes and role of radiotherapy in the management of POEMS syndrome. In total, 33 patients diagnosed with POEMS syndrome were analyzed. These patients presented with osteosclerotic myeloma (OSM, n = 13), Castleman’s disease (CD, n = 4), OSM with CD (n = 10), and vascular endothelial growth factor elevation without gross lesions (VEGFe, n = 6), respectively. The patients were treated by radiotherapy alone (n = 4), chemotherapy alone (n = 16), or a combination thereof (n = 9). The clinical response rates of radiotherapy, chemotherapy, and radiotherapy plus chemotherapy were 75%, 69%, and 89%, respectively. In addition, the hematologic response rates were 50%, 69%, and 71%, respectively. Among the six patients with limited multiple lesions who underwent radiotherapy, the clinical symptoms were improved in five patients after radiotherapy. The median progression-free survival (PFS) was 51 months, and the median overall survival (OS) was 65 months. In univariate analysis, the administration of chemotherapy was significantly associated with better PFS (p = 0.007) and OS (p = 0.020). In contrast, underlying VEGFe was a significant factor worsening PFS (p = 0.035) and OS (p = 0.008). Radiotherapy produces a reliable clinical response and is effective in improving POEMS-associated symptoms that are refractory to chemotherapy in selected patients with clustered or limited multiple lesions that can be covered by single radiation field

Bazex Syndrome with Hypoalbuminemia and Severe Ascites

OpenAIRE

Matsui, Hidetoshi; Iwae, Shigemichi; Hirayama, Yuji; Yonezawa, Koichiro; Shigeji, Jun

2016-01-01

Bazex syndrome is a rare paraneoplastic dermatosis. The underlying malignancy frequently is squamous cell carcinoma of the upper aerodigestive tract or cervical lymph nodes from an unknown primary site. We report a 63-year-old man with squamous cell carcinoma of cervical lymph nodes from an unknown primary site. He developed a mass on the right side of his neck, cutaneous lesions diagnosed as Bazex syndrome, hypoalbuminemia, and severe ascites. Right neck dissection was performed. After neck ...

A Case of Male Goltz Syndrome

Directory of Open Access Journals (Sweden)

Bhaswati Ghoshal

2012-01-01

Full Text Available We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia, a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.

Primary antiphospholipid syndrome presenting with homonymous quadrantanopsia.

Science.gov (United States)

Yang, Hee Kyung; Moon, Ki Won; Ji, Min Jung; Han, Sang Beom; Hwang, Jeong-Min

2018-06-01

To report a case of primary antiphospholipid syndrome presenting with isolated homonymous superior quadrantanopsia. A 50-year-old Korean man presented with subjective visual disturbance for 1 month. Visual field testing showed a right homonymous superior quadrantanopsia. Brain magnetic resonance imaging (MRI) revealed an old infarct in his left occipital lobe and multiple lesions in other areas of the brain. Laboratory tests showed a marked increase in serum anti-β2 glycoprotein I antibody, which remained elevated after 12 weeks. He was diagnosed with primary antiphospholipid syndrome and started anticoagulation therapy. This is the first case report of primary antiphospholipid syndrome presenting with isolated homonymous quadrantanopsia. Antiphospholipid syndrome should be considered as a differential diagnosis in patients with homonymous visual field defects accompanying multiple cerebral infarcts.

Susac’s Syndrome: A Case with Unusual Cardiac Vestibular and Imaging Manifestations

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Yaron River

2015-01-01

Full Text Available Susac’s syndrome (SS is a disease of the microvasculature of the retina, brain, and inner ear. We describe a patient with unusual manifestations of SS with possible involvement of the brainstem, cardiac arrhythmia, and MRI findings lacking the characteristic lesions found in Susac’s syndrome.

Unusual Horner's syndrome in recurrent breast cancer: Evaluating using {sup 18}F-FDG PET/CT

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Park, So Hyun; Kim, Tae Sung; Kim, Seok Ki [Dept. of Nuclear Medicine, National Cancer Center, Goyang (Korea, Republic of)

2017-03-15

{sup 18}F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) is a widely used imaging modality in the initial diagnosis of cancer, treatment response evaluation and detection of recurrence. Herein, we present the case of a 39-year-old female who presented right ptosis on the follow-up of breast cancer after surgery. Clinicians suspected Horner's syndrome, and the patient underwent FDG PET/CT for the evaluation of recurrence that could cause Horner's syndrome. FDG PET/CT demonstrated a focal hypermetabolic lesion in the right cervicothoracic junction area, corresponding to the preganglionic cervical sympathetic trunk. A subsequent needle biopsy was done, and the lesion was confirmed as metastatic ductal carcinoma. In this case, we could detect the exact location of the recurring lesion that caused Horner's syndrome using FDG PET/CT.

The usefulness of bone scintigraphy in SAPHO syndrome

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Lim, Seok Tae; Sohn, Myung Hee [School of Medicine, Chonbuk National Univ., Chonju (Korea, Republic of)

2002-08-01

SAPHO syndrome is well known to various disease entities including synovitis, acne, pustulosis, hyperostosis and polyarthritis. The purpose of this study is to evaluate sicntigraphic findings and to compare with radiologic findings in SAPHO syndrome. Five patients (M:F=5:0, Age 22.8{+-}4.78 yrs) with SAPHO syndrome were enrolled in our study. All patients underwent whole-body bone scintigraphy with intravenous administration of 740 MBq of Tc-99m MDP. Among them, two patients were additionally perfomed SPECT of the spine to evaluate the location and extent of spinal lesion. All patients were demonstrated abnormal increased uptakes in sternoclavicular joint (SC), sacroiliac joint (SI), and small joints of both hands. Among them, three patients were bilateral involvement (3/5) and two were unilateral (2/5) in SC. Involvement of SI showed bilateral in four patients (4/5) and unilateral in one (1/5). SPECT images demonstrate that the lesion sites of the lumbar spine are more likely facet joints than vertebral bodies or pedicles. As SAPHO syndrome is the disease entity involved polyarticular joints with various dermatologic manifestations, the bone scintigraphy may be a very useful method to evaluate the location and extent of joint involvement, and to avoid inadequate surgical management or ineffective antibiotic treatment.

Lesion progression in post-treatment persistent endodontic lesions.

Science.gov (United States)

Yu, Victoria Soo Hoon; Messer, Harold Henry; Shen, Liang; Yee, Robert; Hsu, Chin-ying Stephen

2012-10-01

Radiographic lesions related to root-filled teeth may persist for long periods after treatment and are considered to indicate failure of initial treatment. Persistent lesions are found in a proportion of cases, but information on lesion progression is lacking. This study examined the incidence of lesion improvement, remaining unchanged, and deterioration among persistent lesions in a group of patients recruited from a university-based clinic and identified potential predictors for lesion progression. Patients of a university clinic with persistent endodontic lesions at least 4 years since treatment and with original treatment radiographs available were recruited with informed consent. Data were obtained by interview and from dental records and clinical and radiographic examinations. Univariate and multivariate statistical analyses were carried out by using SPSS (version 19). One hundred fifty-one persistent lesions were identified in 114 patients. A majority of the lesions (107, 70.9%) received treatment between 4 and 5 years prior. Eighty-six lesions (57.0%) improved, 18 (11.9%) remained unchanged, and 47 (31.1%) deteriorated since treatment. Potential predictors for lesions that did not improve included recall lesion size, pain on biting at recall examination, history of a postobturation flare-up, and a non-ideal root-filling length (P < .05). Lesions that had persisted for a longer period appeared less likely to be improving (relative risk, 1.038; 95% confidence interval, 1.000-1.077). A specific time interval alone should not be used to conclude that a lesion will not resolve without intervention. This study identified several clinical factors that are associated with deteriorating persistent lesions, which should aid in identifying lesions that require further intervention. Copyright © 2012 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

Infrasellar pituitary gangliocytoma causing Cushing's syndrome.

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Domingue, Marie-Eve; Marbaix, Etienne; Do Rego, Jean-Luc; Col, Vincent; Raftopoulos, Christian; Duprez, Thierry; Vaudry, Hubert; Maiter, Dominique

2015-10-01

Pituitary gangliocytomas are uncommon neuronal tumours that may present with endocrine disorders, the most frequent being acromegaly caused by growth hormone hypersecretion. Cushing's syndrome is very rarely seen with gangliocytomas. We report the unique case of a 62 year-old woman whose clinical picture and endocrine testing clearly demonstrated adrenocorticotropin (ACTH)-dependent Cushing's syndrome. Pituitary magnetic resonance imaging showed a 12-mm homogeneous, infra- and retrosellar mass first diagnosed as pituitary macroadenoma. Transsphenoidal surgery was performed and allowed complete resection of the tumour with sparing of normal anterior pituitary. Very low postoperative serum cortisol and ACTH levels were observed in the early postoperative period and the patient is still in remission 18 months after surgery, thus demonstrating that the resected lesion was entirely responsible for the clinical picture. Histological and immunocytochemical analyses demonstrated a benign tumour composed of mature neuronal cells suggestive of a gangliocytoma, expressing both ACTH and corticotropin-releasing hormone (CRH). The tumour was surrounded by a rim of pituitary tissue containing ACTH-producing endocrine cells. Careful analysis of the resected lesion did not reveal any pituitary microadenoma. We search literature for similar cases and retraced only nine cases of gangliocytomas associated with Cushing's syndrome. In most of them, the tumour was combined with either pituitary corticotroph adenoma or hyperplasia. Our case represents a unique case of an infrasellar pituitary gangliocytoma which was able to cause Cushing's syndrome by both direct ACTH production and CRH-induced stimulation of neighbour normal corticotroph cells.

Neurocutaneous syndrome: A prospective study

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Radheshyam Purkait

2011-01-01

Full Text Available Background: Neurocutaneous syndromes (NCS are a group of genetic disorders that produce a variety of developmental abnormalities of the skin along with an increased risk of neurological complications. Cutaneous manifestations usually appear early in life and progress with time, but neurological features generally present at a later age. There is a paucity of data regarding the evolution of skin lesions and their correlation with the central nervous system involvement in children. Aim: The primary objective was to track the course of skin lesions in various forms of NCS in the pediatric age group. Our secondary aim was to assess whether there was any predictive value of the lesions in relation to the neurological manifestations. Materials and Methods: This prospective longitudinal study was conducted at a tertiary care pediatric dermatology referral clinic of the Institute of Child Health, Kolkata, West Bengal. Children between the age group 0 and 12 years were included in the study on the basis of standard diagnostic criteria for different NCS, during the period from March, 2000 to February, 2004, and each of the enrolled cases were followed up for a duration of six years. Results: The study population comprised of 67 children (35 boys, 32 girls.The mean age of presentation was 33.8±27.8 months (range 10 days to 111 months. The various forms of NCS observed was neurofibromatosis 1(NF1 (n=33, tuberous sclerosis complex (TSC (n=23, Sturge Weber syndrome (n=6, ataxia telangiectasia (n=2, PHACE syndrome (n=1, incontinentia pigmenti (n=1, and hypomelanosis of Ito (n=1. The presentations were varied, ranging from predominantly cutaneous to primarily neurological, depending on the disease entity and age group concerned. There was a significant increase in the number of café au lait macules (CALMs with time (P=0.0002 in NF1, unlike that of hypopigmented macules of TSC (P=0.15. Statistically, no relation was documented between the evolution of skin

Combined Bentall and modified Ravitch procedures in a patient with Marfan syndrome.

Science.gov (United States)

Kansara, Bhuvnesh; Singh, Ajmer; Girotra, Samir; Iyer, K S

2013-01-01

Marfan syndrome is an inherited, connective-tissue disorder transmitted as an autosomal dominant trait. Cardinal features of the disorder include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection. Pectus excavatum may exist as an isolated lesion or in association with a genetic syndrome such as Marfan syndrome. We report the successful management of a simultaneous correction of pectus excavatum and the underlying cardiovascular diseases.

Combined Bentall and modified Ravitch procedures in a patient with Marfan syndrome

OpenAIRE

Kansara, Bhuvnesh; Singh, Ajmer; Girotra, Samir; Iyer, K S

2013-01-01

Marfan syndrome is an inherited, connective-tissue disorder transmitted as an autosomal dominant trait. Cardinal features of the disorder include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection. Pectus excavatum may exist as an isolated lesion or in association with a genetic syndrome such as Marfan syndrome. We report the successful management of a simultaneous correction of pectus excavatum and the underlying cardiovascular diseases.

Natural history of chondroid skull base lesions - case report and review

International Nuclear Information System (INIS)

Schmidinger, A.; Rosahl, S.K.; Vorkapic, P.; Samii, M.

2002-01-01

Long-term follow-up reports on chondroid lesions of the skull base are rarely presented in the literature. There are virtually no data on natural growth rates of these tumors based on MRI obtained over a period of 10 years or longer. We followed a patient who has had such a lesion for more than 12 years. A non-progressive, slight abducens palsy has been the only associated symptom so far. Even though the patient was operated on for an additional intracranial arterio-venous malformation, clinical features and chromosomal testing excluded Maffucci's syndrome. The MRI follow-up in this case provides an extraordinary perspective on the natural history of chondroid skull base tumors. (orig.)

Quantifying brain tissue volume in multiple sclerosis with automated lesion segmentation and filling

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Sergi Valverde

2015-01-01

Full Text Available Lesion filling has been successfully applied to reduce the effect of hypo-intense T1-w Multiple Sclerosis (MS lesions on automatic brain tissue segmentation. However, a study of fully automated pipelines incorporating lesion segmentation and lesion filling on tissue volume analysis has not yet been performed. Here, we analyzed the % of error introduced by automating the lesion segmentation and filling processes in the tissue segmentation of 70 clinically isolated syndrome patient images. First of all, images were processed using the LST and SLS toolkits with different pipeline combinations that differed in either automated or manual lesion segmentation, and lesion filling or masking out lesions. Then, images processed following each of the pipelines were segmented into gray matter (GM and white matter (WM using SPM8, and compared with the same images where expert lesion annotations were filled before segmentation. Our results showed that fully automated lesion segmentation and filling pipelines reduced significantly the % of error in GM and WM volume on images of MS patients, and performed similarly to the images where expert lesion annotations were masked before segmentation. In all the pipelines, the amount of misclassified lesion voxels was the main cause in the observed error in GM and WM volume. However, the % of error was significantly lower when automatically estimated lesions were filled and not masked before segmentation. These results are relevant and suggest that LST and SLS toolboxes allow the performance of accurate brain tissue volume measurements without any kind of manual intervention, which can be convenient not only in terms of time and economic costs, but also to avoid the inherent intra/inter variability between manual annotations.

Churg-strauss syndrome

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Subhasish Ghosh

2011-01-01

Full Text Available Churg-Strauss syndrome (CSS is a rare granulomatous necrotizing small vessel vasculitis characterized by the presence of asthma, sinusitis, and hypereosinophilia. The cause of this allergic angiitis and granulomatosis is unknown. Other common manifestations are pulmonary infiltrates, skin, gastrointestinal, and cardiovascular involvement. No data have been reported regarding the role of immune complexes or cell mediated mechanisms in this disease, although autoimmunity is evident with the presence hypergammaglobulinemia, increased levels of IgE and Antineutrophil cytoplasmic antibody (positive in 40%. We report the case of a 27-year-old lady presenting with painful swelling of predominantly lower limbs with extensive vesicles and ecchymotic patches and fever shortly after stopping systemic steroids taken for a prolonged duration (2002--2010. The aim of this case report is to point to the possibility of CSS in patients presenting with extensive skin lesions masquerading as Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Syndrome (SJS/TENS.

EXPERIENCE OF ALPROSTADIL APPLICATION AGAINST RAYNAUD'S SYNDROME AMONG CHILDREN

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E.I. Alexeeva

2007-01-01

Full Text Available The article provides the data on the causes and mechanisms of Raynaud's syndrome development. initial or idiopathic Raynaud's syndrome is characterized by the spasm of the digital arteries and thermoregulatory vessels of skin under the impact of the cold without any signs of vessel lesions. In the event of secondary Raynaud's syndrome, there is combination of Raynaud's syndrome with the symptoms of other diseases. Secondary raynaud's syndrome is most often associated with scleroderma systematica, systemic erythema centrifugum, other rheumatic diseases, hematologic disc orders and intake of some medications. There is also data on the opportunity to apply the synthetic medication prostaglandin е 1 — alprostadil to treat Raynaud's syndrome associated with rheumatic diseases. The given clinical example demonstrates high efficacy of alprostadil in case of the patient, suffering from scleroderma systematica and generalized Raynaud's syndrome.Key words: children, scleroderma systematica, alprostadil, Raynaud's syndrome.

Aicardi's syndrome: (agenesis of the corpus callosum, infantile spasms, and ocular anomalies).

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Dinani, S; Jancar, J

1984-06-01

A case of Aicardi's syndrome is reported. A 12-year-old mentally handicapped female has all the characteristics of the syndrome: agenesis of the Corpus callosum; female infant with mental handicap, epilepsy, characteristic eye lesions, vertebral anomalies and abnormal EEG pattern. The results of supporting examination and investigations are noted.

[Mastitis revealing Churg-Strauss syndrome].

Science.gov (United States)

Dannepond, C; Le Fourn, E; de Muret, A; Ouldamer, L; Carmier, D; Machet, L

2014-01-01

Churg-Strauss syndrome often involves the skin, and this may sometimes reveal the disease. A 25-year-old woman was referred to a gynaecologist for inflammation of the right breast with breast discharge. Cytological analysis of the liquid showed numerous inflammatory cells, particularly polymorphonuclear eosinophils and neutrophils. Ultrasound examination of the breast was consistent with galactophoritis. CRP was normal, and hypereosinophilia was seen. The patient was subsequently referred to a dermatology unit. Skin examination revealed inflammation of the entire breast, which was painful, warm and erythematous; the border was oedematous with blisters. Necrotic lesions were also present on the thumbs and knees. Skin biopsy of the breast showed a dermal infiltrate with abundant infiltrate of polymorphonuclear eosinophils, including patchy necrosis and intraepidermal vesicles. Histological examination of a biopsy sample from a thumb revealed eosinophilic granuloma and leukocytoclastic vasculitis. The patient was also presenting asthma, pulmonary infiltrates and mononeuropathy at L3, consistent with Churg-Strauss syndrome. Breast involvement in Churg-Strauss syndrome is very rare (only one other case has been reported). This is the first case in which the breast condition revealed the disease. Cutaneous involvement of the breast is, however, also compatible with Wells' cellulitis. The lesions quickly disappeared with 1mg/kg/d oral prednisolone. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Mac Leod's syndrome

International Nuclear Information System (INIS)

Schad, M.; Danesi, C.; Ricci, R.; Galluzzi, S.; Coviello, G.

1988-01-01

Mac Leod's syndrome is a rarely diagnosed disease; that is why an accurate differential diagnosis is needed by means of radiological imaging. This paper is aimed at discussing the differential diagnosis, with a special emphasis on the pathogenesis of the syndrome. The phenomenon of air trapping in absence of central bronchial lesions is a typical radiographic finding. Chest X-ray is performed in both inspiration and expiration. Posterior oblique tomography at 55 grade centigrade of the effected side is also performed. Diffuse bronchiolitis obliterans in infancy or early childhood ia widely accepted pathogenetic pattern. Pulmonary hypoventilation causes vasoconstriction and underdevelopment of pulmonary vessels, that are reduced in caliber. Differential diagnosis includes all the diseases resulting in pulmonary hyperlucency, i.e. pulmonary and pleural alterations, and skeletal anomalies

Persistent lesion hyperintensity on brain diffusion-weighted MRI is an early sign of intravascular lymphoma.

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Kageyama, Takashi; Yamanaka, Haruo; Nakamura, Fumihiko; Suenaga, Toshihiko

2017-06-08

A 63-year-old man presented with right-sided hemianopia and unsteady gait. Brain MRI revealed multiple hyperintense infarct-like lesions on diffusion-weighted images (DWI). Hyperintensity persisted in some of these lesions even after 6 weeks, although his symptoms were ameliorated then. The patient developed episodic dizziness and a transient event of apraxia at 18 weeks after the first episode. Brain MRI revealed additional hyperintense lesions on DWI, which persisted even after 7 weeks. Eventually, the patient manifested cauda equina syndrome 39 weeks after the first episode. Brain MRI showed the presence of new lesions in addition to the persistent hyperintense lesions on DWI over 21 weeks in the right frontal lobe. Based on laboratory findings and the pathological assessment of bone marrow and random skin biopsies, the patient was diagnosed with intravascular lymphoma (IVL). Persistent hyperintense lesions on DWI of brain MRI may precede the clinical exacerbation of IVL. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Atypical gorlin′s syndrome

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Yesudian Devakar

1995-01-01

Full Text Available A 21-year-old woman presented with complaints of skin lesions on her face, palms and soles. On examination, 8 to 10 well-defined, pigmented nodules with raised and pearly borders were seen on the face. Multiple pits were present on the palms and soles. Biopsy of both lesions revealed the presence of basal cell epitheliomas. The patient also gave history of removal of a keratocyst of mandible 10 years back. The case was diagnosed as Gorlin′s syndrome. It is atypical due to the low number of basal cell epitheliomas, the occurrence of only a single odontogenic cyst and the absence of other features usually associated with this condition

Complete heart block in a patient with POEMS syndrome: A case report

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Farzaneh Ashrafi

2014-09-01

Full Text Available BACKGROUND: Polyneuropathy, organomegaly, endocrinopathy, monoclonal syndrome (POEMS is a rare paraneoplastic syndrome associated with plasma cell dyscrasia. CASE REPORT: A 48-year-old man presented with a 1-year history of paresthesia and progressive weakness of extremities. Diagnosis of POEMS syndrome was made for him on the basis of clinical presentation, additional physical findings, typical sclerotic bone lesion, and bone marrow findings. In last admission, he explained episodes of dyspnea and chest pain that associated with frequent premature ventricular contraction in his electrocardiograph. Patient heart monitoring showed some episodes of complete heart block. Infra-His atrioventricular block in electro-physiologic study was detected. He had no history of ischemic heart disease. His cardiopulmonary findings on examination were normal. All results of cardiac biomarkers and serum electrolytes and repeated echocardiography were within normal range. Cong red staining of rectal fat pad biopsy was negative. After pacemaker insertion radiation of sclerotic bone, lesion started for him, but radiotherapy was ineffective, and he expired with respiratory failure. Complete heart block in POEMS syndrome has not been reported previously, and it is the first POEMS case with complete heart block. CONCLUSION: Complete heart block is a cardiac manifestation of POEMS syndrome.   Keywords: Complete Heart Block, POEM Syndrome, Multiple Meloma 

Brugada-like Precordial ST Elevation on ECG by Anterior Mediastinal Infective Mass Lesion

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Yuji Nakazato

2003-07-01

Full Text Available Several causes are known to induce the right precordial ST elevation mimicking Brugada syndrome. Right ventricular outflow area is assumed to be responsible for such ECG changes. We experienced a case of anterior mediastinal infective mass lesion with a Brugada-like ECG. A 52-year-old female, who has pulmonary stenosis and recurrent episodes of right ventricular heart failure, complained of high fever, abdominal discomfort, and edema. On physical examination, jugular vein dilation, hepatomegaly, and facial and leg edema were noted. Leucocytosis was also noted on blood examination. An ECG showed right ventricular hypertrophy, incomplete right bundle branch block pattern and marked ST elevation on precordial leads mimicking Brugada syndrome. Magnetic resonance imaging revealed an abnormal mass shadow located on the anterior mediastinum and compressing the right ventricle (Figure 1A. Trans-thoracic echocardiography also showed the high echogenic mass lesion at the anterior side of right ventricle and the vicinity of pulmonary valve. After treatment with antibiotics, the mass lesion gradually shrunk. Concomitantly, the ST elevation disappeared with improvement of inflammatory markers (Figure 1B. The symptoms suggesting right ventricular failure were also ameliorated. The mechanism of Brugada-like ST elevation in this patient was considered to be compression, by the abnormal infective mass, of the right ventricular outflow tract with/without focal pericardial inflammation.

Atherosclerotic Plaque Characteristics by CT Angiography Identify Coronary Lesions That Cause Ischemia: a Direct Comparison to Fractional Flow Reserve

Science.gov (United States)

Park, Hyung-Bok; Heo, Ran; Hartaigh, Bríain ó; Cho, Iksung; Gransar, Heidi; Nakazato, Ryo; Leipsic, Jonathon; Mancini, G.B. John; Koo, Bon-Kwon; Otake, Hiromasa; Budoff, Matthew J.; Berman, Daniel S.; Erglis, Andrejs; Chang, Hyuk-Jae; Min, James K.

2014-01-01

Objective We evaluated the association between atherosclerotic plaque characteristics (APCs) by coronary CT angiography (CT) and lesion ischemia by fractional flow reserve (FFR). Background FFR is the gold standard for determining lesion ischemia. While APCs by CT—including aggregate plaque volume % (%APV), positive remodeling (PR), low attenuation plaque (LAP) and spotty calcification (SC)—are associated with future coronary syndromes, their relationship to lesion ischemia is unclear. Methods 252 patients (17 centers, 5 countries) [mean age 63 years, 71% males] underwent CT, with FFR performed for 407 coronary lesions. CT was interpreted for 50% stenosis, with the latter considered obstructive. APCs by CT were defined as: (1) PR, lesion diameter/reference diameter >1.10; (2) LAP, any voxel 50% but not for 50%. PMID:25592691

White-Nose Syndrome Fungus (Geomyces destructans) in Bats, Europe

OpenAIRE

Wibbelt, Gudrun; Kurth, Andreas; Hellmann, David; Weishaar, Manfred; Barlow, Alex; Veith, Michael; Prüger, Julia; Görföl, Tamás; Grosche, Lena; Bontadina, Fabio; Zöphel, Ulrich; Seidl, Hans-Peter; Cryan, Paul M.; Blehert, David S.

2010-01-01

White-nose syndrome is an emerging disease in North America that has caused substantial declines in hibernating bats. A recently identified fungus (Geomyces destructans) causes skin lesions that are characteristic of this disease. Typical signs of this infection were not observed in bats in North America before white-nose syndrome was detected. However, unconfirmed reports from Europe indicated white fungal growth on hibernating bats without associated deaths. To investigate these differences...

CT and MR imaging of the knee joint in the ''plica syndrome''

International Nuclear Information System (INIS)

Passariello, R.; Trecco, F.; De Paulis, F.; Masciocchi, C.; Zobel, B.B.; Buoni, C.

1986-01-01

''Synovial plicae'' are present in 60% of adult knees and can be the cause of a nonspecific clinical picture known as the plica syndrome. Direct high-resolution CT and MR imaging were performed on 30 patients with serious clinical signs of plica syndrome. All patients underwent anthroscopy. Twelve infrapetallar, eight suprapatellar, and 22 medical synovial plicae were shown (in 12 cases two different plicae were present). In seven cases there were other associated lesions: one case of patellar tendinitis, three medial meniscus lesions, one lateral diskoid meniscus, and two patellar subluxations. The diagnostic accuracy of both CT and MR imaging were compared with arthroscopy. CT always showed the plicae and defined their types, locations, and associations with other lesions. MR imaging was superior to CT in characterizing the morphology of the plica (related with symptomatology) and in showing the femoral and patellar chondromalacia secondary to the plica itself. MR imaging was equally accurate in revealing the tendinitis and the patellar subluxations, but CT was superior in displaying the meniscal lesions and the diskoid meniscus

[Features of the periodontal pathology at patients with metabolic syndrome].

Science.gov (United States)

Ermolaeva, L A; Shishkin, A N; Sheveleva, N A; Penkovoi, E A; Sheveleva, M A; Sokolovich, N A; Khabarova, O V; Mihailova, E S

2016-01-01

The purpose of this article is to familiarize readers on the relationship between metabolic syndrome and periodontitis, as well as common pathogenetic processes underlying these diseases. The data of modern researches, devoted to the correlation of lesions of periodontal and systemic diseases associated with metabolic syndrome. In the article analyzed also the data of the original study of the interaction of periodontitis and metabolic syndrome, which also used special methods of examination like Doppler ultrasound microcirculatory vasculature of the periodontal tissues and ultrasound densitometry. The possible methods of diagnostics of a condition of periodontal tissues in patients with metabolic syndrome are considered. Conclusions about the relationship of each component of metabolic syndrome with periodontitis are made.

Papular-purpuric "gloves and socks" syndrome due to parvovirus B19: report of a case with unusual features

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PASSONI Luiz Fernando C.

2001-01-01

Full Text Available We present a case of papular-purpuric "gloves and socks" syndrome (PPGSS in an adult male with acute parvovirus B19 infection. The patient displayed the classical features of fever, oral lesions, and purpura on hands and feet, but the purpuric lesions on the feet evolved to superficial skin necrosis, a feature not previously described in this syndrome. We believe this is the first reported case of PPGSS occurring in Brazil.

Bilateral Wyburn-Mason Syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneuos disorder

DEFF Research Database (Denmark)

Cortnum, Søren Ole Stigaard; Sørensen, Preben; Andresen, J

2008-01-01

. Wyburn-Mason syndrome is a very rare congenital neurocutaneuos disorder comprising of vascular malformations of the retina, ipsilateral cerebral AVMs and occasionally lesions in the oronasopharyngeal area. Subarachnoid haemorrhage associated with Wyburn-Mason syndrome has been described in only 5...

Combined Bentall and modified Ravitch procedures in a patient with Marfan syndrome

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Bhuvnesh Kansara

2013-01-01

Full Text Available Marfan syndrome is an inherited, connective-tissue disorder transmitted as an autosomal dominant trait. Cardinal features of the disorder include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection. Pectus excavatum may exist as an isolated lesion or in association with a genetic syndrome such as Marfan syndrome. We report the successful management of a simultaneous correction of pectus excavatum and the underlying cardiovascular diseases.

Netherton′s Syndrome

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M L Khatri

1989-01-01

Full Text Available A 6 year old Libyan boy had diffuse erythema at birth and later developed pruritic, maculo-papular, papular, circinat c, double-edge, scaly lesions, suggestive of ichthyosis linearis circumflexa (ILC.Hisscalp hair were brittle and sparse with partial patchy alopecia, showing change of trichorrhexis invaginata, these -associations being characteristic of Netherton′s syndrome. The boy had slightly stunted growth; a feature which has not been recorded in previously reported cases.

Lupus erythematosus/lichen planus overlap syndrome: successful treatment with acitretin.

Science.gov (United States)

Lospinoso, D J; Fernelius, C; Edhegard, K D; Finger, D R; Arora, N S

2013-07-01

Lupus erythematosus/lichen planus overlap syndrome is a rare disorder combining the clinical, histological and immunopathological features of both lupus erythematosus (LE) and lichen planus (LP). Cutaneous lesions mostly affect the distal arms, legs, face and trunk. Palmoplantar involvement is felt to be characteristic of this condition. Plaques are often painful, centrally atrophic, bluish-red to hypopigmented in color, large, and scaly. On biopsy of clinically ambiguous lesions, histopathological features of one or both processes can be found, obscuring the diagnosis and complicating prognosis and treatment. Thus, direct immunofluorescence has become an essential tool in helping to diagnose this condition. In this report we describe the unique clinical and immunohistopathological manifestations of lupus erythematosus/lichen planus overlap syndrome along with a successful response to treatment with acitretin.

Cerebral computed tomography in men with acquired immunodeficiency syndrome

International Nuclear Information System (INIS)

Brun, B.; Boesen, F.; Gerstoft, J.; Nielsen, J.O.; Praestholm, J.; Rigshospitalet, Copenhagen; Hvidovre Hospital; Hvidovre Hospital; Hvidovre Hospital

1986-01-01

Cerebral CT scannings were performed in 19 homosexual men with the acquired immunodeficiency syndrome (AIDS). Nearly half of them (9 patients) had cortical atrophy. Three patients with toxoplasmosis had cerebral pathology, in two of them with ring enhancement while the third had an ill-defined nonspecific lesion with slight heterogeneous enhancement without ring formation. Two patients with multifocal leucoencephalopathy and non-Hodgkin's lymphoma, respectively, presented non-enhancing, low attenuating lesions at CT. (orig.)

Hepatic infarction in HELLP syndrome; a case report

Energy Technology Data Exchange (ETDEWEB)

Kim, Mi Jeong; Kim, Hong [Keimyung Univ. School of Medicine, Taegu (Korea, Republic of)

2000-11-01

Hepatic infarction is a rare but potentially life-threatening complication of pregnancy-associated preeclampsia or HELLP (hemolysis, elevated liver function tests, low platelets) syndrome. We present a case of hepatic infarction subsequent to HELLP syndrome and occurring during the immediate postpartum, and the associated radiologic findings. Sonography revealed poorly defined hypoechoic zones of infarction. Computed tomography(CT) demonstrated the characteristic features of nonenhancing, low attenuation, relatively well-defined, wedge shaped or geographic hepatic lesions, without mass effect.

Hepatic infarction in HELLP syndrome; a case report

International Nuclear Information System (INIS)

Kim, Mi Jeong; Kim, Hong

2000-01-01

Hepatic infarction is a rare but potentially life-threatening complication of pregnancy-associated preeclampsia or HELLP (hemolysis, elevated liver function tests, low platelets) syndrome. We present a case of hepatic infarction subsequent to HELLP syndrome and occurring during the immediate postpartum, and the associated radiologic findings. Sonography revealed poorly defined hypoechoic zones of infarction. Computed tomography(CT) demonstrated the characteristic features of nonenhancing, low attenuation, relatively well-defined, wedge shaped or geographic hepatic lesions, without mass effect

Localized pulmonary crystal-storing histiocytosis complicating pulmonary mucosa-associated lymphoid tissue lymphoma presenting with multiple mass lesions.

Science.gov (United States)

Kokuho, Nariaki; Terasaki, Yasuhiro; Kunugi, Shinobu; Onda, Naomi; Urushiyama, Hirokazu; Terasaki, Mika; Hino, Mitsunori; Gemma, Akihiko; Hatori, Tsutomu; Shimizu, Akira

2017-07-01

Crystal-storing histiocytosis (CSH) is an uncommon finding in lymphoplasmacytic disorders that presents histiocytes with abnormal intralysosomal accumulations of immunoglobulin light chains as crystals of unknown etiology. A 38-year-old woman with antiphospholipid syndrome had a surgical lung biopsy because of multiple lung mass lesions. In a right middle lobe lesion, lymphoplasmacytic cells had a monocytoid appearance, destructive lymphoepithelial lesions, and positive immunoglobulin heavy chain (IGH) gene rearrangements. A right upper lobe lesion manifested proliferating rounded histiocytes with abundant, deeply eosinophilic cytoplasm and negative IGH gene rearrangements. Electron microscopy and mass spectrometry revealed a case of pulmonary CSH: abnormal proliferation of the immunoglobulin κ chain of a variable region that may be crystallized within plasma cells and histiocytes. We report a rare case of localized pulmonary CSH complicating pulmonary mucosa-associated lymphoid tissue lymphoma with multiple mass lesions. We demonstrate advances in the understanding of the pathogenesis of CSH by various analyses of these lesions. Copyright © 2017 Elsevier Inc. All rights reserved.

Parry-Romberg Syndrome Associated with Localized Scleroderma

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Jelena Maletic

2010-06-01

Full Text Available Parry-Romberg syndrome is a rare neurocutaneous disorder of unknown origin. It is characterized by progressive facial hemiatrophy and frequently overlaps with a condition known as linear scleroderma ‘en coup de sabre’. Neurological involvement is frequently described in these patients, including migraine, facial pain and epilepsy, which represent the commonest neurological conditions, sometimes associated with brain abnormalities ipsilaterally to the skin lesions. We present a case of Parry-Romberg syndrome with neurological involvement in a patient with diagnosed localized scleroderma (morphea.

Parry-Romberg Syndrome Associated with Localized Scleroderma

Science.gov (United States)

Maletic, Jelena; Tsirka, Vassiliki; Ioannides, Panos; Karacostas, Dimitrios; Taskos, Nikolaos

2010-01-01

Parry-Romberg syndrome is a rare neurocutaneous disorder of unknown origin. It is characterized by progressive facial hemiatrophy and frequently overlaps with a condition known as linear scleroderma ‘en coup de sabre’. Neurological involvement is frequently described in these patients, including migraine, facial pain and epilepsy, which represent the commonest neurological conditions, sometimes associated with brain abnormalities ipsilaterally to the skin lesions. We present a case of Parry-Romberg syndrome with neurological involvement in a patient with diagnosed localized scleroderma (morphea). PMID:20671858

Burning Mouth Syndrome: A Review of the Etiopathologic Factors and Management.

Science.gov (United States)

Vellappally, Sajith

2016-02-01

Burning mouth syndrome (BMS) is characterized by pain in the mouth with or with no inflammatory signs and no specific lesions. Synonyms found in literature include glossodynia, oral dysesthesia, glossopyrosis, glossalgia, stomatopyrosis, and stomatodynia. Burning mouth syndrome generally presents as a triad: Mouth pain, alteration in taste, and altered salivation, in the absence of visible mucosal lesions in the mouth. The syndrome generally manifests spontaneously, and the discomfort is typically of a continuous nature but increases in intensity during evening and at night. The etiopathogenesis seems to be complex and in a large number of patients probably involves interactions among local, systemic, and/or psychogenic factors. The differential diagnosis requires the exclusion of oral mucosal lesions or blood test alterations that can produce burning mouth sensation. Management is always based on the etiological agents involved. If burning persists after local or systemic conditions are treated, then treatment is aimed at controlling neuropathic symptoms. Treatment of BMS is still unsatisfactory, and there is no definitive cure. As a result, a multidisciplinary approach is required to bring the condition under better control. The aim of this review was to discuss several aspects of BMS, update current knowledge, and provide guidelines for patient management.

A case of adrenal Cushing’s syndrome with bilateral adrenal masses

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Ya-Wun Guo

2016-05-01

Full Text Available A functional lesion in corticotrophin (ACTH-independent Cushing’s syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and 131I-6β-iodomethyl-19-norcholesterol (131I-NP-59 scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (<5pg/mL. No suppression was observed in both the low- and high-dose dexamethasone suppression tests. Adrenal computed tomography revealed bilateral adrenal masses. Adrenal venous sampling was performed, and the right-to-left lateralisation ratio was 14.29. The finding from adrenal scintigraphy with NP-59 was consistent with right adrenal adenoma. The patient underwent laparoscopic right adrenalectomy, and the pathology report showed adrenocortical adenoma. Her postoperative cortisol level was 3.2μg/dL, and her Cushingoid appearance improved. In sum, both adrenal venous sampling and 131I-NP-59 scintigraphy are good diagnostic methods for Cushing’s syndrome presenting with bilateral adrenal masses.

Posterior reversible encephalopathy syndrome in a adult female

African Journals Online (AJOL)

occipital regions. Atypical imaging finding of contrast enhancement of lesion can occur, but is less common. A 20‑year‑old primiparous lady presented with posterior reversible encephalopathy syndrome. To the best of our knowledge, this is the first ...

Gorlin's syndrome with a thin corpus callosum and a third ventricular cyst

International Nuclear Information System (INIS)

Kantarci, M.; Alper, F.; Onbas, O.; Ertas, U.; Sutbeyaz, Y.; Karasen, R.M.

2003-01-01

Gorlin's syndrome (naevoid basal cell carcinoma) is an autosomal dominant tumor-predisposition syndrome, classically consists of multiple basal cell carcinomas of the skin, odontogenic keratocyst of the jaw, various skeletal abnormalities, and lamellar falx calcifications. Many associated lesions have been reported. We report a case of Gorlin's syndrome in a 22-year-old man in whom CT and MR images showed unusual findings of the thin corpus callosum and third ventricular cyst. We present a case of this syndrome with special emphasis on its unusual neuroradiological findings and radiological management. (orig.)

Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia

International Nuclear Information System (INIS)

Shimada, Kenji; Matsumoto, Fumi; Matsui, Futosi; Obara, Takasi

2010-01-01

The objective of this study was to review our experience with female children who have unilateral renal agenesis or renal dysplasia associated with cystic lesions in the reproductive system. Between 1991 and 2007, we treated 26 patients with unilateral renal agenesis or renal dysplasia associated with pelvic, retrovesical or interlabial cystic lesions. In 16 patients, an abnormality either of the kidney or a cystic lesion was detected during the perinatal period. Another 10 patients presented clinical symptoms, including urinary incontinence in five, urinary tract infection in one, and vaginal discharge in four. Based on clinical features and imaging findings, the patients were divided into four groups: those with Gartner's duct cyst (Group 1, n=9); those with uterovaginal duplication with obstructed hemivagina (Herlyn-Werner-Wunderlich syndrome [HWW]; Group 2, n=3); those with both Gartner's duct cyst and HWW syndrome (Group 3, n=3); and those without definitive diagnosis (Group 4, n=11). In Group 1, leakage completely stopped after nephrectomy in three patients, whereas six patients continued to be incontinent despite the removal of dysgenetic kidneys. In Group 2, after the excision of a vaginal septum, no patient presented urinary incontinence. In patients in Group 3, both the mesonephric remnant and mullerian structures were confirmed on imaging or through endoscopy. Because of the high coincidence of genital and renal anomalies, it is recommended that genital systems in female patients with renal anomalies associated with cystic lesions behind the lower urinary tract be investigated. The best imaging modality to use remains under scrutiny. It is important to follow the patients until the age of puberty. The importance of a long-term follow-up in these patients needs to be emphasized. (author)

The Pathology of Wobbly Hedgehog Syndrome.

Science.gov (United States)

Díaz-Delgado, Josué; Whitley, Derick B; Storts, Ralph W; Heatley, Jill J; Hoppes, Sharman; Porter, Brian F

2018-01-01

Wobbly hedgehog syndrome (WHS) is a leading cause of neurologic disease in African pygmy hedgehogs (APHs; Atelerix albiventris). This study describes the signalment, clinical signs, gross, microscopic, and ultrastructural lesions of WHS in a cohort of 12 pet APHs. Microscopically, lesions consisted of status spongiosus of the white matter, typically bilateral and symmetrical, with myelin degeneration and loss that was accompanied by neuronal/axonal degeneration plus reactive microgliosis and mild, focal astrocytosis and astrogliosis. Lesions were most severe in the cerebellum and medulla oblongata, as well as cervical and thoracic spinal cord. Less affected areas were the corona radiata, corpus callosum, corpus striatum, internal capsule, and the mesencephalon. Ultrastructurally, the lesions consisted of splitting of the myelin sheath at the intraperiod line with subsequent focal expansion, resulting in status spongiosus, disruption, dilatation, rhexis, and phagocytosis. Based on these results, WHS is best described as a "spongy myelinopathy" with widespread central nervous system involvement.

Unusual presentation of idiopathic sweet′s syndrome in a photodistributed pattern

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Rajesh Verma

2014-01-01

Full Text Available A 40-year-old lady presented with history of multiple red raised painful lesions over her body of 10 days duration. Lesions spread from forearms to arms and back of trunk during the progress of the disease. Associated pain and burning sensation in the lesions was present while working in the sun. Mild to moderate grade fever, malaise, pain over large joints, decreased appetite, and redness of eyes was also present. There was no history of drug intake or other risk-factors. Dermatological examination revealed erythematous papules coalescing to form plaques with a pseudovesicular appearance over the extensor aspect of forearms and photo-exposed areas on the back of trunk. There was a sharp cut-off between the lesions and the photo-protected areas. Investigations revealed anemia, neutrophilic leukocytosis, raised erythrocyte sedimentation rate and positive C reactive protein. Skin biopsy showed characteristic features of Sweet′s syndrome. No evidence for any secondary etiology was found. She responded to a tapering course of oral steroids and topical broad spectrum photo-protection. This case is a very rare instance of idiopathic Sweets syndrome occurring in a photo-distributed pattern.

Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome

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Niharika R Lal

2015-01-01

Full Text Available Proteus syndrome is a rare condition with a wide spectrum of abnormalities. It is characterized by hamartomatous malformations involving multiple organs. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms such as parotid adenomas, ovarian cystadenomas, and meningiomas. We report here a case of Proteus syndrome in a 21-year-old woman who had facial hemihypertrophy, cerebriform plantar hyperplasia, hemimegalencephaly, and meningioma for the rarity of the entity.

Baseline Glutathione Peroxidase Activity Affects Prognosis after Acute Coronary Syndromes

OpenAIRE

García-Pinilla, José Manuel; Gálvez, Julio; Cabrera-Bueno, Fernando; Jiménez-Navarro, Manuel; Gómez-Doblas, Juan José; Galisteo, Milagros; Camuesco, Desiré; de Teresa Galván, Carlos; Espinosa-Caliani, Salvador; Zarzuelo, Antonio; de Teresa-Galván, Eduardo

2008-01-01

Oxidative stress is associated with atherosclerosis and plaque lesions in experimental in vitro models. Few in vivo studies have examined the association between redox status and the prognosis of acute coronary syndromes.

Brain atrophy and lesion load are related to CSF lipid-specific IgM oligoclonal bands in clinically isolated syndromes

International Nuclear Information System (INIS)

Magraner, Maria Jose; Bosca, Isabel; Simo-Castello, Maria; Casanova, Bonaventura; Garcia-Marti, Gracian; Alberich-Bayarri, Angel; Marti-Bonmati, Luis; Coret, Francisco; Alvarez-Cermeno, Jose C.; Villar, Luisa M.

2012-01-01

The objective of this work is to study the relationship between the presence of lipid-specific oligoclonal IgM bands (LS-OCMB) in CSF, with both T2 lesion volume (T2LV) accumulation and brain atrophy (percentage change of brain volume-PCBV-and brain parenchyma fraction-BPF) in patients with clinically isolated syndromes (CIS) suggestive of demyelination. Twenty-four CIS patients were included in this prospective study. IgG oligoclonal bands (OCGB) and LS-OCMB were determined in paired serum and CSF samples within 3 months since clinical onset. Brain MRI studies were scheduled at baseline, 3 months, first and second years after CIS onset. Differences in T2LV, PCBV and BPF between CIS patients according to the type of OCB were studied. Nine patients had no OCB; 15 had only OCGB, and seven had OCGB + LS-OCMB present in the CSF. LS-OCMB were associated with greater T2LV in all scheduled MRI studies. At the end of follow-up (year 2), it was threefold higher in patients with these antibodies than in those without LS-OCMB (3.95 cm 3 vs. 1.36 cm 3 , p = 0.001). At that point, brain atrophy was also higher in patients with LS-OCMB (BPF, 0.73 in LS-OCMB+ patients vs. 0.76 in negative ones, p = 0.03). The rate in brain atrophy was higher in the first group of patients as well. Considering only patients with OCGB, the presence of LS-OCMB was also related to greater T2LV, T2LV increase and a trend towards higher atrophy rate. The presence of LS-OCMB in the first event suggestive of demyelination is related to an early increase in lesion load and brain atrophy. These data are in line with prospective studies showing the clinical prognostic value of LS-OCMB. (orig.)

Oral manifestations of McCune-Albright syndrome

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Konidena Aravinda

2013-01-01

Full Text Available McCune- Albright Syndrome (MAS is a rare fibrosseous lesion, characterized by a classic triad of polyostotic fibrous dysplasia (PFD, cafι -au-lait macules (CALM and underlying endocrinopathies. We present the oral findings of an interesting case of MAS with relevant review of literature. A 30-year-old male presented to us with swelling of both jaws over a period of two years. Cutaneous examination revealed cafι - au - lait macule over the back, crossing the midline. Skeletal survey showed expansile, osteolytic, mixed radiolucent- radiopaque lesions in skull and jaw bones. Serum alkaline phosphatase was elevated (388 IU/L, with normal calcium, phosphorus, parathyroid hormone and 25 hydroxy vitamin D levels. Diagnosis of McCune- Albright syndrome was made and he was treated with parenteral bisphosphonates (intravenous Zoledronate 4 mg and is under follow up for surgical recontouring of the jaws. Early recognition facilitates better treatment and improves prognosis by reducing the morbidity.

Acute Korsakoff-like amnestic syndrome resulting from left thalamic infarction following a right hippocampal hemorrhage.

Science.gov (United States)

Rahme, R; Moussa, R; Awada, A; Ibrahim, I; Ali, Y; Maarrawi, J; Rizk, T; Nohra, G; Okais, N; Samaha, E

2007-04-01

Korsakoff-like amnestic syndromes have been rarely described following structural lesions of the central nervous system. In this report, we describe a case of acute Korsakoff-like syndrome resulting from the combination of a left anteromedian thalamic infarct and a right hippocampal hemorrhage. We also review the literature relevant to the neuropathology and pathophysiology of Korsakoff syndrome and anterograde amnesia.

Are white matter lesions directly associated with cognitive impairment in patients with lacunar infarcts?

NARCIS (Netherlands)

J.C. van Swieten (John); S. Staal (S.); L.J. Kappelle (Jaap); M.M.A. Derix (M. M A); J. van Gijn (Jan)

1996-01-01

textabstractForty-four patients (mean age 66, SD 8 years) with either clinical evidence of a focal lacunar syndrome (n = 36) or with disorders of memory or gait (n = 8) in the presence of a lacunar infarct on CT were studied for cognitive functioning and for the presence of white matter lesions on

An unusual case of ectopic ACTH syndrome.

Science.gov (United States)

Willhauck, M J; Pöpperl, G; Rachinger, W; Giese, A; Auernhammer, C J; Spitzweg, C

2012-02-01

Ectopic ACTH-syndrome is a rare cause of Cushing's disease. Despite extensive diagnostic procedures the source of ACTH secretion often remains occult. This case describes a 45-year old woman with an ectopic Cushing's syndrome. Extensive imaging procedures including CT scan of chest and abdomen, octreotide scan and MRI of the chest and pituitary did not reveal the source of ACTH secretion. In consideration of an occult source of ACTH secretion we started a therapeutic trial with cabergoline (0.5 mg/d), a dopamine receptor agonist, which has been shown to be effective in ectopic Cushing's syndrome. 2 months after cabergoline treatment had been initiated, ACTH and cortisol levels normalized in association with significant improvement of the clinical symptoms. During follow-up a [(68)Ga-DOTA-dPhe(1), Tyr(3)]-octreotate ([(68)Ga-DOTA]-TATE) PET-CT was performed revealing a somatostatin receptor positive lesion in the right sphenoidal sinus suggesting the source of ACTH secretion. The patient was cured by transnasal resection of the polypoid lesion, which was immunohistochemically characterized as an ACTH-positive neuroendocrine tumor. This case report demonstrates the management of ectopic ACTH-syndrome by molecularly -targeted therapy with dopamine receptor -agonists as well as improved detection of the ectopic ACTH source by novel imaging modalities, such as [(68)Ga-DOTA]-TATE PET specifically targeting somatostatin receptor subtype-2 with high affinity. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

Working Memory Deficits After Lesions Involving the Supplementary Motor Area

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Alba Cañas

2018-05-01

Full Text Available The Supplementary Motor Area (SMA—located in the superior and medial aspects of the superior frontal gyrus—is a preferential site of certain brain tumors and arteriovenous malformations, which often provoke the so-called SMA syndrome. The bulk of the literature studying this syndrome has focused on two of its most apparent symptoms: contralateral motor and speech deficits. Surprisingly, little attention has been given to working memory (WM even though neuroimaging studies have implicated the SMA in this cognitive process. Given its relevance for higher-order functions, our main goal was to examine whether WM is compromised in SMA lesions. We also asked whether WM deficits might be reducible to processing speed (PS difficulties. Given the connectivity of the SMA with prefrontal regions related to executive control (EC, as a secondary goal we examined whether SMA lesions also hampered EC. To this end, we tested 12 patients with lesions involving the left (i.e., the dominant SMA. We also tested 12 healthy controls matched with patients for socio-demographic variables. To ensure that the results of this study can be easily transferred and implemented in clinical practice, we used widely-known clinical neuropsychological tests: WM and PS were measured with their respective Wechsler Adult Intelligence Scale indexes, and EC was tested with phonemic and semantic verbal fluency tasks. Non-parametric statistical methods revealed that patients showed deficits in the executive component of WM: they were able to sustain information temporarily but not to mentally manipulate this information. Such WM deficits were not subject to patients' marginal PS impairment. Patients also showed reduced phonemic fluency, which disappeared after controlling for the influence of WM. This observation suggests that SMA damage does not seem to affect cognitive processes engaged by verbal fluency other than WM. In conclusion, WM impairment needs to be considered as part of

Idiopathic epileptic syndromes and cognition.

Science.gov (United States)

Hommet, Caroline; Sauerwein, Hannelore C; De Toffol, Bertrand; Lassonde, Maryse

2006-01-01

Epilepsy is frequently associated with cognitive impairments which result from various interacting factors. The present paper deals with the contribution of neuropsychology to the characterization of the type of epilepsy and the possible mechanisms underlying idiopathic epileptic syndromes. The non-lesional, so-called idiopathic epilepsies, constitute an interesting model for assessing the relationship between epileptiform EEG discharges and cognition. Among the idiopathic generalized epilepsies, disorders of social integration and personality have been frequently reported in juvenile myoclonic epilepsy (JME). Since similar disturbances are observed in frontal-lobe-lesioned patients, impairments in other frontal lobe functions (e.g. executive functions) might be expected in JME. This gives rise to speculation about the possible underlying pathophysiological mechanisms in JME. With regard to partial idiopathic epilepsies, benign childhood epilepsy with centrotemporal spikes (BCECTS) may provide a useful model for the study of the relationship between epileptiform EEG discharges in the peri-sylvian region and language functions. Furthermore, the description of mild cognitive dysfunctions in BCECTS, and their persistence into adulthood, can provide information about compensatory mechanisms and may allow for the generation of remedial strategies. Thus, 'lesional' neuropsychology has given way to 'dynamic' neuropsychology based on specific postulates. By using the cognitive profile to specify the mechanism underlying the behavioral disturbances observed in different types of epilepsy, neuropsychology may eventually contribute to a revision of the present classification of epileptic syndromes. In addition, the neuropsychological data may help predict the extent and limits of functional recovery and cerebral plasticity.

Seven-Tesla Magnetization Transfer Imaging to Detect Multiple Sclerosis White Matter Lesions.

Science.gov (United States)

Chou, I-Jun; Lim, Su-Yin; Tanasescu, Radu; Al-Radaideh, Ali; Mougin, Olivier E; Tench, Christopher R; Whitehouse, William P; Gowland, Penny A; Constantinescu, Cris S

2018-03-01

Fluid-attenuated inversion recovery (FLAIR) imaging at 3 Tesla (T) field strength is the most sensitive modality for detecting white matter lesions in multiple sclerosis. While 7T FLAIR is effective in detecting cortical lesions, it has not been fully optimized for visualization of white matter lesions and thus has not been used for delineating lesions in quantitative magnetic resonance imaging (MRI) studies of the normal appearing white matter in multiple sclerosis. Therefore, we aimed to evaluate the sensitivity of 7T magnetization-transfer-weighted (MT w ) images in the detection of white matter lesions compared with 3T-FLAIR. Fifteen patients with clinically isolated syndrome, 6 with multiple sclerosis, and 10 healthy participants were scanned with 7T 3-dimensional (D) MT w and 3T-2D-FLAIR sequences on the same day. White matter lesions visible on either sequence were delineated. Of 662 lesions identified on 3T-2D-FLAIR images, 652 were detected on 7T-3D-MT w images (sensitivity, 98%; 95% confidence interval, 97% to 99%). The Spearman correlation coefficient between lesion loads estimated by the two sequences was .910. The intrarater and interrater reliability for 7T-3D-MT w images was good with an intraclass correlation coefficient (ICC) of 98.4% and 81.8%, which is similar to that for 3T-2D-FLAIR images (ICC 96.1% and 96.7%). Seven-Tesla MT w sequences detected most of the white matter lesions identified by FLAIR at 3T. This suggests that 7T-MT w imaging is a robust alternative for detecting demyelinating lesions in addition to 3T-FLAIR. Future studies need to compare the roles of optimized 7T-FLAIR and of 7T-MT w imaging. © 2017 The Authors. Journal of Neuroimaging published by Wiley Periodicals, Inc. on behalf of American Society of Neuroimaging.

Update on clinically isolated syndrome.

Science.gov (United States)

Thouvenot, Éric

2015-04-01

Optic neuritis, myelitis and brainstem syndrome accompanied by a symptomatic MRI T2 or FLAIR hyperintensity and T1 hypointensity are highly suggestive of multiple sclerosis (MS) in young adults. They are called "clinically isolated syndrome" (CIS) and correspond to the typical first multiple sclerosis (MS) episode, especially when associated with other asymptomatic demyelinating lesions, without clinical, radiological and immunological sign of differential diagnosis. After a CIS, the delay of apparition of a relapse, which corresponds to the conversion to clinically definite MS (CDMS), varies from several months to more than 10 years (10-15% of cases, generally called benign RRMS). This delay is generally associated with the number and location of demyelinating lesions of the brain and spinal cord and the results of CSF analysis. Several studies comparing different MRI criteria for dissemination in space and dissemination in time of demyelinating lesions, two hallmarks of MS, provided enough substantial data to update diagnostic criteria for MS after a CIS. In the last revision of the McDonald's criteria in 2010, diagnostic criteria were simplified and now the diagnosis can be made by a single initial scan that proves the presence of active asymptomatic lesions (with gadolinium enhancement) and of unenhanced lesions. However, time to conversion remains highly unpredictable for a given patient and CIS can remain isolated, especially for idiopathic unilateral optic neuritis or myelitis. Univariate analyses of clinical, radiological, biological or electrophysiological characteristics of CIS patients in small series identified numerous risk factors of rapid conversion to MS. However, large series of CIS patients analyzing several characteristics of CIS patients and the influence of disease modifying therapies brought important information about the risk of CDMS or RRMS over up to 20 years of follow-up. They confirmed the importance of the initial MRI pattern of

OCCIPITAL LOBE SYNDROME

OpenAIRE

Shahdevi Nandar Kurniawan

2016-01-01

The ability to recognize objects and words is not just depend on the integrity of visual pathway and primary vision area on cerebral cortex (Brodmann area 17), but also secondary vision area 18 and tertiary vision area 19 on occipital lobe. Lesion in occipital lobe could disturb of human visual function such as visual field defects, inability to recognize colors, inability to recognize words, visual hallucinations and illusions, occipital lobe epilepsy, and Anton’s syndrome. Some causes of oc...

Analysis of acute ischemic stroke presenting classic lacunar syndrome. A study by diffusion-weighted MRI

Energy Technology Data Exchange (ETDEWEB)

Terai, Satoshi; Ota, Kazuki; Tamaki, Kinya [Hakujyuji Hospital, Fukuoka (Japan)

2002-03-01

We retrospectively assessed the pathophysiological features of acute ischemic stroke presenting ''classic'' lacunar syndrome by using diffusion-weighted imaging (DWI). Subjects were 16 patients who were admitted to our hospital within 24 hours of stroke onset and underwent DWI examination on admission. These were divided into three categorical groups; pure motor hemiplegia (PMH) in 8, sensorimotor stroke (SMS) in 7, and dysarthria-clumsy hand syndrome (DCHS) in 1. The fresh responsible lesions were identified by DWI in the perforating territory in 7 patients with PMH and 7 with SMS. Four (one had two possible response lesions; pons and corona radiata) and five patients in the respective groups were diagnosed as lacunar infarction on admission (the largest dimension of the lesion measuring smaller than 15 mm). On the contralateral side to the neurological symptoms, DWI revealed high intensities in cortex, subcortical white matter, and anterior and posterior border zones in the remaining one patient with PMH and in the precentral arterial region in one with DCHS. They were diagnosed as atherothrombotic infarction resulting from the occlusion of the internal carotid artery and cerebral embolism due to atrial fibrillation, respectively. Three patients with PMH showed progressive deterioration after admission and follow-up DWI study in an acute stage revealed enlargement of heir ischemic lesions. The present study suggests that DWI is a useful imaging technique for diagnosis of clinical categories and observation for pathophsiological alteration in the acute ischemic stroke patients with ''classic'' lacunar syndrome. Our results also indicate a necessity to be aware that various types of fresh ischemic lesions other than a single lacune might possibly be developing in cases with this syndrome. (author)

Catatonia, neuroleptic malignant syndrome, and cotard syndrome in a 22-year-old woman: a case report.

Science.gov (United States)

Weiss, C; Santander, J; Torres, R

2013-01-01

The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as "I do not have a heart," "my heart is not beating," "I can not breathe," "I am breaking apart," "I have no head" (ideas of negation) and statements about the patient being responsible for the "death of the whole world" (ideas of enormity). Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed.

Catatonia, Neuroleptic Malignant Syndrome, and Cotard Syndrome in a 22-Year-Old Woman: A Case Report

Directory of Open Access Journals (Sweden)

C. Weiss

2013-01-01

Full Text Available The following case study describes a 22-year-old woman with depression and symptoms of psychosis who developed neuroleptic malignant syndrome after using Risperidone, thus requiring life support equipment and Bromocriptine, later recovering after seven days. From a psychiatric and neurological point of view, however, the persistence of catatonic syndrome and Cotard syndrome delusions was observed, based on assertions such as “I do not have a heart,” “my heart is not beating,” “I can not breathe,” “I am breaking apart,” “I have no head” (ideas of negation and statements about the patient being responsible for the “death of the whole world” (ideas of enormity. Brain NMR revealed leukoencephalopathy, interpreted as scar lesions caused by perinatal neurological damage, after discarding other pathologies. The patient responded well to electroconvulsive therapy after 11 sessions. Organic vulnerability to these syndromes, as well as their coexistence and clinical differentiation is discussed in the light of the data observed.

Cauda equina syndrome in the dog: radiographic evaluation

International Nuclear Information System (INIS)

Morgan, J.P.; Bailey, C.S.

1990-01-01

Dogs with clinical signs typical of cauda equina syndrome require careful evaluation to determine the cause of the disease as this strongly influences choice of treatment. Possible aetiologies include congenital or developmental, inflammatory, traumatic, neoplastic, and degenerative lesions that may involve vertebrae, vertebral joints, intervertebral discs, spinal cord, spinal nerves, or meninges. It must be determined whether clinical signs are due to musculoskeletal or neurological disease before performing special radiographic procedures. Non-contrast radiography permits false-positive diagnosis of obvious degenerative changes involving the L-S disc that may be without clinical signs or permits a false-negative diagnosis due to the failure to appreciate soft tissue lesions not seen radiographically. Special radiographic techniques are recommended and include: (1) stress radiography, (2) discography, and (3) epidural myelography. Evaluation of the results of these studies assists in determining the cause of the cauda equina syndrome and the type of therapy required

Pitfalls in the diagnosis of carcinoid syndrome

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Dorota Kaczmarska-Turek

2016-06-01

Full Text Available Background . Carcinoid syndrome (CS is a rare syndrome, most commonly associated with neuroendocrine neoplasms (NEN s of the small intestine. Carcinoid syndrome consists of diarrhea, vomiting, abdominal pain, cutaneous flushing, teleangiectasias, bronchoconstriction and increased perspiration. Diagnosis of carcinoid syndrome remains a challenge and it is often delayed. Objectives . The aim of this study was to characterize patients with CS and define the most sensitive, primary diagnostic tools for CS . Material and methods. 26 consecutive patients admitted to the Department because of carcinoid-like symptoms. Diagnosis of CS was based on clinical findings and laboratory data (levels of 5-hydroxyindoloacetic acid. Diagnosis of NEN was based on laboratory findings, imaging studies (US , CT , Gallium-68-DOTA TATE PET -CT and histopathological analysis. CS due to NEN was diagnosed in 16 subjects (NEN –CS . Results . The most common symptoms in non-NEN were increased perspiration, flushes and diarrhea. CgA was elevated (40%; n = 4 in this group. However, elevated levels of 5-HIAA and liver lesions were not presented. In the NEN –CS symptoms were reported more often: flush (93.7%; n = 15, diarrhea (87.5%; n = 14, abdominal pain and teleangiectasis (81.2%; n = 13. Elevated CgA and 5-HIAA were noted in 87.5% (n = 14 and 81.2% (n = 13 respectively. US and CT revealed liver metastases in all patients. The mean duration of symptoms before diagnosis was 28.6 months. Conclusions . The combination of several symptoms of carcinoid syndrome and liver lesion in easily available abdominal imaging (US and/or CT should prompt physicians to quick referral to centres specialized in the diagnosis and treatment of NEN.

Wall-eyed bilateral internuclear ophthalmoplegia (webino syndrome and myelopathy in pyoderma gangrenosum

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Marco Aurélio Lana

1990-12-01

Full Text Available A 35-year-old female with pyoderma gangrenosum developed paraparesis with a sensory level at L1. Three months later she complained of diplopia and was found to have bilateral internuclear ophthalmoplegia with exotropia and no ocular convergence. The term Webino syndrome has been coined to design this set of neuro-opthalmologic findings. Although it was initially attributed to lesions affecting the medial longitudinal fasciculus and the medial rectus subnuclei of the oculomotor complex in the midbrain the exact location of the lesion is still disputed. In the present case both myelopathy and Webino syndrome were probably due to vascular occlusive disease resulting from central nervous system vasculitis occurring in concomitance to pyoderma gangrenosum.

[PELVIS/SACRAL syndrome with livedoid haemangioma and amniotic band].

Science.gov (United States)

Bourrat, E; Lemarchand-Venencie, F; Jacquemont, M-L; El Ghoneimi, A; Wassef, M; Leger, J; Morel, P

2008-12-01

PELVIS or SACRAL syndrome denotes the association of local haemangioma and malformation in the pelvic region. In this paper, we report a case noteworthy on account of the initially livedoid appearance of the haemangioma as well as associated amniotic banding of an upper limb. A newborn male infant underwent left colostomy on the day of birth due to anal imperforation and anomalies of the external genital organs with sexual ambiguity. Examination of the skin and appendages revealed poorly delineated hypopigmentation in the sacrolumbar region and a fibrous groove around the right arm characteristic of amniotic band syndrome. Sacrolumbar and pelvic MRI scans revealed deviation towards the left of the last three sacral vertebrae with no medullary anomalies. Retrograde cystography showed a recto-uretral fistula. Progression of the infant's condition was marked by the appearance during the first month of a flat, violaceous, angiomatous, livedoid lesion in the middle of the buttocks and the perineum and a linear lesion on the rear aspect of the right lower limb. The skin biopsy of this lesion revealed a single capillary lobule at the dermal-hypodermal junction of non-specific appearance but with marked Glut1 expression by endothelial cells highly evocative of infantile haemangioma. Segmented haemangiomas are commonly associated with extracutaneous abnormalities. By analogy with PHACE syndrome, defined as association of segmented facial haemangioma with cerebral, ocular and cardio-aortic abnormalities, PELVIS/SACRAL syndrome denotes the association of segmented haemangioma of the loins (sacrolumbar region, buttocks or perineum=napkin haemangioma) with spinal dysraphia affecting the sacrolumbar spine, the terminal medullary cone, the genitourinary organs and the anal region to different degrees. Diagnosis of haemangioma associated with PELVIS/SACRAL syndrome may be delayed or complicated due to the macular, telangiectasic or livedoid appearance commonly seen. To our

Complete remission of coronary vasculitis in Churg-Strauss Syndrome by prednisone and cyclophosphamide.

Science.gov (United States)

Riksen, Niels P; Gehlmann, Helmut; Brouwer, Annemarie E; van Deuren, Marcel

2013-03-01

The heart is involved in up to 50% of all patients with Churg-Strauss syndrome, but vasculitis of the coronary arteries has only been rarely documented. We present a young patient with severe coronary aneurysms and stenotic lesions due to a Churg-Strauss vasculitis. Prompt therapy with prednisone and cyclophosphamide resulted in the complete resolution of all lesions.

Fatal atypical reversible posterior leukoencephalopathy syndrome: a case report

Directory of Open Access Journals (Sweden)

Golombeck Stefanie Kristin

2013-01-01

Full Text Available Abstract Introduction Reversible posterior leukoencephalopathy syndrome – a reversible subacute global encephalopathy clinically presenting with headache, altered mental status, visual symptoms such as hemianopsia or cortical blindness, motor symptoms, and focal or generalized seizures – is characterized by a subcortical vasogenic edema symmetrically affecting posterior brain regions. Complete reversibility of both clinical signs and magnetic resonance imaging lesions is regarded as a defining feature of reversible posterior leukoencephalopathy syndrome. Reversible posterior leukoencephalopathy syndrome is almost exclusively seen in the setting of a predisposing clinical condition, such as pre-eclampsia, systemic infections, sepsis and shock, certain autoimmune diseases, various malignancies and cytotoxic chemotherapy, transplantation and concomitant immunosuppression (especially with calcineurin inhibitors as well as episodes of abrupt hypertension. We describe for the first time clinical, radiological and histological findings in a case of reversible posterior leukoencephalopathy syndrome with an irreversible and fatal outcome occurring in the absence of any of the known predisposing clinical conditions except for a hypertensive episode. Case presentation A 58-year-old Caucasian woman presented with a two-week history of subacute and progressive occipital headache, blurred vision and imbalance of gait and with no evidence for raised arterial blood pressure during the two weeks previous to admission. Her past medical history was unremarkable except for controlled arterial hypertension. Cerebral magnetic resonance imaging demonstrated cortical and subcortical lesions with combined vasogenic and cytotoxic edema atypical for both venous congestion and arterial infarction. Routine laboratory and cerebrospinal fluid parameters were normal. The diagnosis of reversible posterior leukoencephalopathy syndrome was established. Within hours after

Nephrogenic adenoma of the bladder in a prune belly syndrome patient: case report and review of the literature.

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Broecker, Justine S; Steelman, Charlotte K; Broecker, Bruce H; Shehata, Bahig M

2011-01-01

Nephrogenic adenoma (NA) is a rare lesion of the urinary tract widely considered to be a metaplastic response to urothelial injury. Herein, we present the case of an 8-year-old male with prune belly syndrome who presented with gross hematuria. Investigation revealed a bladder mass; however, upon cystoscopic examination, multiple polypoid lesions were identified. Microscopic examination revealed NA of the bladder. To our knowledge, this is the second reported case of NA of the bladder in association with prune belly syndrome.

CT diagnosis and differential diagnosis of otodystrophic lesions of the temporal bone

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D' Archambeau, O.; Parizel, P.M.; Schepper, A.M. De (Antwerp University Hospital (Belgium). Department of Radiology); Koekelkoren, E.; Van De Heyning, P. (Antwerp University Hospital (Belgium). Department of E.N.T.)

The purpose of this study was to assess the diagnostic and differential diagnostic value of high-resolution computed tomography in the evaluation of temporal-bone dystrophies. The study group included 55 patients with osseous abnormalities of the temporal bone in general, and the labyrinthine capsule in particular. In 27 patients the CT scan revealed evidence of otodystrophic lesions. The CT findings in patients with otosclerosis (21 patients), osteogenesis imperfecta (two patients), fibrous dysplasia (one patient). Paget's disease (one patient) and osteoporosis (two patients) are described. The CT scans of 17 patients revealed secondary osseous lesions due to metastasis (five patients), post-inflammatory changes (10 patients) or labyrinthitis ossificans (two patients). Normal variants and congenital mineralization defects were diagnosed in nine patients, Down's syndrome in two. Our results indicate the importance of high-resolution computed tomography as the primary imaging modality in evaluating osseous lesions of the temporal bone and labyrinth. (author). 14 refs.; 13 figs; 2 tabs.

CT diagnosis and differential diagnosis of otodystrophic lesions of the temporal bone

International Nuclear Information System (INIS)

D'Archambeau, O.; Parizel, P.M.; Schepper, A.M. De; Koekelkoren, E.; Van De Heyning, P.

1990-01-01

The purpose of this study was to assess the diagnostic and differential diagnostic value of high-resolution computed tomography in the evaluation of temporal-bone dystrophies. The study group included 55 patients with osseous abnormalities of the temporal bone in general, and the labyrinthine capsule in particular. In 27 patients the CT scan revealed evidence of otodystrophic lesions. The CT findings in patients with otosclerosis (21 patients), osteogenesis imperfecta (two patients), fibrous dysplasia (one patient). Paget's disease (one patient) and osteoporosis (two patients) are described. The CT scans of 17 patients revealed secondary osseous lesions due to metastasis (five patients), post-inflammatory changes (10 patients) or labyrinthitis ossificans (two patients). Normal variants and congenital mineralization defects were diagnosed in nine patients, Down's syndrome in two. Our results indicate the importance of high-resolution computed tomography as the primary imaging modality in evaluating osseous lesions of the temporal bone and labyrinth. (author). 14 refs.; 13 figs; 2 tabs

Acute abdominal pain as the only symptom of a thoracic demyelinating lesion in multiple sclerosis.

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Nomura, Shohei; Shimakawa, Shuichi; Kashiwagi, Mitsuru; Tanabe, Takuya; Fukui, Miho; Tamai, Hiroshi

2015-11-01

Multiple sclerosis (MS) is a syndrome characterized by complex neurological symptoms resulting from demyelinating lesions in the central nervous system. We report a child with a relapse of MS whose only presenting symptom was severe abdominal pain. Dysfunctional intestinal mobility was assessed by abdominal computed tomography. Findings resembled paralytic ileus resulting from peritonitis. However, the patient demonstrated no other symptoms of peritonitis. A T2-weighted magnetic resonance image revealed a new demyelinating lesion localized to thoracic segments T4-T12. The lesion presumably affected autonomic efferents involved in intestinal mobility. Treatment with a pulse of methylprednisolone reduced both abdominal pain and lesion size. To our knowledge, this is the first reported case of a pediatric MS patient with a demyelinating lesion associated with an autonomic symptom of altered intestinal mobility in the absence of neurological symptoms. This atypical presentation of MS highlights the need for physicians' vigilance when treating this patient population. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Neuromyelitis optica accompanied by nephrotic syndrome and autoimmune-related pancytopenia.

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ZhangBao, Jingzi; Zhou, Lei; Lu, Jiahong; Xi, Jianying; Zhao, Chongbo; Quan, Chao

2016-05-01

Neuromyelitis optica (NMO) associated with nephrotic syndrome and autoimmune-related pancytopenia has not been reported previously. We report herein a young woman who initially presented with bilateral blurring of vision and numbness in her hands. MRI disclosed multiple white matter lesions and a long cervical spinal cord lesion extending to the medulla oblongata. Serum aquaporin-4 antibody was positive and the patient was diagnosed with NMO. While in the hospital, she presented with hypoproteinemia and heavy proteinuria, meeting the diagnostic criteria of nephrotic syndrome. After high-dose methylprednisolone treatment, her vision improved significantly and urine protein quantity decreased. However, the patient subsequently developed severe pancytopenia with a positive Coombs' test. Thrombocytopenia finally led to uncontrollable gastrointestinal bleeding as the direct cause of the patient's death. This case illustrates the extremely rare condition of concurrence of NMO, nephrotic syndrome, and autoimmune pancytopenia in one patient, which suggests the involvement of organs beyond the central nervous system in NMO spectrum disorders. Copyright © 2016 Elsevier B.V. All rights reserved.

A pregnancy-associated nonfamilial case of PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, acne) syndrome.

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Horiuchi, Isao; Fukatsu, Yuko; Ushijima, Junko; Nakamura, Eishin; Samajima, Koki; Kadowaki, Kanako; Takagi, Kenjiro

2016-10-01

Little is known about the influence of pregnancy on pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome. We experienced a rare case of pregnancy complicated with PAPA syndrome. The patient had various histories of skin and joint disorders and experienced subarachnoid hemorrhage during pregnancy; however, her skin lesion was unaffected.

Sjogrens Syndrome Presenting with Central Nervous System Involvement

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Tülay Terzi

2012-01-01

Full Text Available Sjogren’s syndrome is a slowly progressive autoimmune disease. Neurological involvement occurs in approximately 20-25% cases in Sjogren’s syndrome. 87% of the neurological involvement is peripheral nervous system, almost 13% in the form of central nervous system involvement. Affected central nervous system may show similar clinical and radiological findings as in multiple sclerosis (MS. In this paper, a 43-year-old patient is discussed who was referred with the complaint of dizziness, there was MS- like lesions in brain imaging studies and was diagnosed with Sjogren’s syndrome. MS- like clinical and radiologic tables can be seen, albeit rarely in Sjogren’s syndrome. In these cases, early diagnosis and early treatment for the sjögren has a great importance for the prognosis of the disease.

Artery of Percheron Infarction as an Unusual Cause of Korsakoff’s Syndrome

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Yongxing Zhou

2015-01-01

Full Text Available The Korsakoff syndrome is defined as “an abnormal mental state in which memory and learning are affected out of all proportion to other cognitive functions in an otherwise alert and responsive patient.” Confabulation refers to false or erroneous memories arising, not deliberately, in the context of a neurological amnesia and is often thought of as pathognomonic of the Korsakoff syndrome. Although the exact pathophysiology is unknown, various studies have identified brain lesions in the thalami, mammillary bodies, and frontal cortex. We report a case of a 68-year-old male presenting with acute altered mental status on July 16, 2015. The neuropsychological dysfunctions included prominent Korsakoff’s syndrome, which became apparent when the altered mental status resolved. Amnesia was accompanied by prominent confabulation, disorientation, and lack of insight into his own disability. Neuroradiological data indicated that the intralaminar and dorsomedial nuclei in bilateral thalami were infarcted by occlusion of the artery of Percheron. We believe that ours is one of few reported cases of Korsakoff syndrome in a patient with infarction involving the territory of the artery of Percheron. We conclude that bilateral thalamic lesions could cause Korsakoff’s syndrome and the intralaminar and dorsomedial nuclei might be important structures in the pathogenesis of confabulation.

A Patient with Fragile X-Associated Tremor/Ataxia Syndrome Presenting with Executive Cognitive Deficits and Cerebral White Matter Lesions

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Kensaku Kasuga

2011-05-01

Full Text Available Fragile X-associated tremor/ataxia syndrome (FXTAS is a late-onset neurodegenerative disorder that primarily affects males who are carriers of a premutation of a CGG expansion in the FMR1 gene. In Asian populations, FXTAS has rarely been reported. Here, we report the case of a Japanese FXTAS patient who showed predominant executive cognitive deficits as the main feature of his disease. In contrast, the patient exhibited only very mild symptoms of intention tremor and ataxia, which did not interfere with daily activities. A gene analysis revealed that the patient carried a premutation of a CGG expansion (111 CGG repeats in the FMR1 gene. The mRNA expression level of FMR1 in the patient was 1.5-fold higher than in controls. On brain MRI scans, fluid-attenuated inversion recovery images showed high-intensity lesions in the middle cerebellar peduncles and the cerebral white matter, with a frontal predominance. The present case extends previous notions regarding the cognitive impairment in FXTAS patients. Recognizing FXTAS patients with predominant cognitive impairment from various ethnic backgrounds would contribute to our understanding of the phenotypic variation of this disease.

A case of neuro-Behcet syndrome with brainstem lesions confirmed by MRI

International Nuclear Information System (INIS)

Takizawa, Shunya; Haida, Munetaka; Ohsuga, Hitoshi; Takagi, Shigeharu; Shinohara, Yukito

1988-01-01

A 49-year-old man presented with a 30-year history of oral and genital aphthous ulcers and joint pain. One day before his admission he developed double vision and weakness in the right extremities. Neurological examination revealed right 5th nerve palsy, left 6th to 18th nerve palsy, left Horner's sign, and motor and sensory impairment in the right upper and lower extremities. X-ray CT showed diffuse, weak, low-density areas in the brainstem. T1 weighted images showed low signals in the left side of the mid-pons, the left tegmentum and the right basis of the upper pons, and the left tegmentum of the midbrain. T2 weighted images showed high signals in the whole pons and the left side of the midbrain. MRI allowed the differentiation of reversible lesions, such as brain edema, and irreversible lesions, such as necrosis and demyelination of the tissue. (Namekawa, K.)

[Fournier syndrome: report of a clinical case].

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La Torre, F; Otti, M; Ruggeri, E; Taglienti, D; Bonanno, L; Bianchini, G P; Veneroso, S; Tintisona, O; Monti, M

2001-01-01

The case of a Fournier's syndrome in a 58 years old patient is reported from the Authors that describe the ethiopathogenetic and therapeutic aspects. They analyse the importance of an early surgical treatment associated with antibiotic therapy and later a riparation of the lesions with a myocutaneous skin flap of TLF.

Neuroimaging experience in pediatric Horner syndrome

International Nuclear Information System (INIS)

Kadom, Nadja; Rosman, N.P.; Jubouri, Shams; Trofimova, Anna; Egloff, Alexia M.; Zein, Wadih M.

2015-01-01

Horner syndrome in children is rare. The frequency and spectrum of malignancy as the cause of Horner syndrome in children remains unclear. Also unclear is whether the imaging work-up should include the entire oculo-sympathetic pathway or should be more targeted. In addition, the value of cross-sectional angiographic imaging in Horner syndrome is uncertain. To review imaging pathology in a cohort of children with Horner syndrome at a major academic pediatric medical center. We reviewed a 22-year period of CT and MR imaging studies in children with a clinical diagnosis of Horner syndrome referred for imaging. We found 38 patients who fulfilled study criteria of Horner syndrome and 6/38 had relevant imaging findings: 2/6 etiologies were neoplastic (congenital neuroblastoma and central astrocytoma), 1/6 had a vascular abnormality (hypoplastic carotid artery), 1/6 had maldevelopment (Chiari I malformation), and 2/6 had inflammatory/traumatic etiology (viral cervical lymphadenopathy, post jugular vein cannulation). There was a similar number of congenital and acquired pathologies. The malignancies were found at any level of the oculosympathetic pathway. There are treatable causes, including malignancies, in children presenting with Horner syndrome, which justify imaging work-up of the entire oculosympathetic pathway, unless the lesion level can be determined clinically. (orig.)

Neuroimaging experience in pediatric Horner syndrome

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Kadom, Nadja [Boston University School of Medicine, Department of Radiology, Boston University Medical Center, Boston, MA (United States); Rosman, N.P. [Boston Medical Center, Division of Pediatric Neurology, Departments of Pediatrics and Neurology, Boston University School of Medicine, Boston, MA (United States); Jubouri, Shams; Trofimova, Anna; Egloff, Alexia M. [Children' s National Medical Center, Department of Radiology and Diagnostic Imaging, Washington, DC (United States); Zein, Wadih M. [National Eye Institute (NEI), Bethesda, MD (United States)

2015-09-15

Horner syndrome in children is rare. The frequency and spectrum of malignancy as the cause of Horner syndrome in children remains unclear. Also unclear is whether the imaging work-up should include the entire oculo-sympathetic pathway or should be more targeted. In addition, the value of cross-sectional angiographic imaging in Horner syndrome is uncertain. To review imaging pathology in a cohort of children with Horner syndrome at a major academic pediatric medical center. We reviewed a 22-year period of CT and MR imaging studies in children with a clinical diagnosis of Horner syndrome referred for imaging. We found 38 patients who fulfilled study criteria of Horner syndrome and 6/38 had relevant imaging findings: 2/6 etiologies were neoplastic (congenital neuroblastoma and central astrocytoma), 1/6 had a vascular abnormality (hypoplastic carotid artery), 1/6 had maldevelopment (Chiari I malformation), and 2/6 had inflammatory/traumatic etiology (viral cervical lymphadenopathy, post jugular vein cannulation). There was a similar number of congenital and acquired pathologies. The malignancies were found at any level of the oculosympathetic pathway. There are treatable causes, including malignancies, in children presenting with Horner syndrome, which justify imaging work-up of the entire oculosympathetic pathway, unless the lesion level can be determined clinically. (orig.)

Helicobacter pylori associated chronic gastritis, clinical syndromes, precancerous lesions, and pathogenesis of gastric cancer development

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Watari, Jiro; Chen, Nancy; Amenta, Peter S; Fukui, Hirokazu; Oshima, Tadayuki; Tomita, Toshihiko; Miwa, Hiroto; Lim, Kheng-Jim; Das, Kiron M

2014-01-01

Helicobacter pylori (H. pylori) infection is well known to be associated with the development of precancerous lesions such as chronic atrophic gastritis (AG), or gastric intestinal metaplasia (GIM), and cancer. Various molecular alterations are identified not only in gastric cancer (GC) but also in precancerous lesions. H. pylori treatment seems to improve AG and GIM, but still remains controversial. In contrast, many studies, including meta-analysis, show that H. pylori eradication reduces GC. Molecular markers detected by genetic and epigenetic alterations related to carcinogenesis reverse following H. pylori eradication. This indicates that these changes may be an important factor in the identification of high risk patients for cancer development. Patients who underwent endoscopic treatment of GC are at high risk for development of metachronous GC. A randomized controlled trial from Japan concluded that prophylactic eradication of H. pylori after endoscopic resection should be used to prevent the development of metachronous GC, but recent retrospective studies did not show the tendency. Patients with precancerous lesions (molecular alterations) that do not reverse after H. pylori treatment, represent the “point of no return” and may be at high risk for the development of GC. Therefore, earlier H. pylori eradication should be considered for preventing GC development prior to the appearance of precancerous lesions. PMID:24833876

Helicobacter pylori associated chronic gastritis, clinical syndromes, precancerous lesions, and pathogenesis of gastric cancer development.

Science.gov (United States)

Watari, Jiro; Chen, Nancy; Amenta, Peter S; Fukui, Hirokazu; Oshima, Tadayuki; Tomita, Toshihiko; Miwa, Hiroto; Lim, Kheng-Jim; Das, Kiron M

2014-05-14

Helicobacter pylori (H. pylori) infection is well known to be associated with the development of precancerous lesions such as chronic atrophic gastritis (AG), or gastric intestinal metaplasia (GIM), and cancer. Various molecular alterations are identified not only in gastric cancer (GC) but also in precancerous lesions. H. pylori treatment seems to improve AG and GIM, but still remains controversial. In contrast, many studies, including meta-analysis, show that H. pylori eradication reduces GC. Molecular markers detected by genetic and epigenetic alterations related to carcinogenesis reverse following H. pylori eradication. This indicates that these changes may be an important factor in the identification of high risk patients for cancer development. Patients who underwent endoscopic treatment of GC are at high risk for development of metachronous GC. A randomized controlled trial from Japan concluded that prophylactic eradication of H. pylori after endoscopic resection should be used to prevent the development of metachronous GC, but recent retrospective studies did not show the tendency. Patients with precancerous lesions (molecular alterations) that do not reverse after H. pylori treatment, represent the "point of no return" and may be at high risk for the development of GC. Therefore, earlier H. pylori eradication should be considered for preventing GC development prior to the appearance of precancerous lesions.

Left hand tactile agnosia after posterior callosal lesion.

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Balsamo, Maddalena; Trojano, Luigi; Giamundo, Arcangelo; Grossi, Dario

2008-09-01

We report a patient with a hemorrhagic lesion encroaching upon the posterior third of the corpus callosum but sparing the splenium. She showed marked difficulties in recognizing objects and shapes perceived through her left hand, while she could appreciate elementary sensorial features of items tactually presented to the same hand flawlessly. This picture, corresponding to classical descriptions of unilateral associative tactile agnosia, was associated with finger agnosia of the left hand. This very unusual case report can be interpreted as an instance of disconnection syndrome, and allows a discussion of mechanisms involved in tactile object recognition.

Endovascular Therapy Is Effective for Leriche Syndrome with Deep Vein Thrombosis

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Tasuku Higashihara

2015-01-01

Full Text Available A 65-year-old man presented to our hospital due to intermittent claudication and swelling in his left leg. He had Leriche syndrome and deep vein thrombosis. We performed endovascular therapy (EVT for Leriche syndrome, and a temporary filter was inserted in the inferior vena cava. He received anticoagulation therapy for deep vein thrombosis. The stenotic lesion in the terminal aorta was stented with an excellent postprocedural angiographic result and dramatic clinical improvement after EVT. This case suggests that EVT can be a treatment for Leriche syndrome.

Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VII

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Chih-Ping Chen

2008-09-01

Full Text Available Neural tube defects (NTDs may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome, Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher-Zweymüller syndrome, parietal foramina (cranium bifidum, Apert syndrome, craniomicromelic syndrome, XX-agonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies.

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Gieraerts, Christopher; Demaerel, Philippe; Van Damme, Philip; Wilms, Guido

2013-01-01

We present a case in which mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome mimicked the clinical and radiological signs of herpes simplex encephalitis. In a patient with subacute encephalopathy, on computed tomography and magnetic resonance imaging, lesions were present in both temporal lobes extending to both insular regions with sparing of the lentiform nuclei and in both posterior straight and cingulate gyri. Final diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome was based on biochemical investigations on cerebrospinal fluid, electromyogram, muscle biopsy, and genetic analysis. On diffusion-weighted imaging, diffusion restriction was present in some parts of the lesions but not throughout the entire lesions. We suggest that this could be an important sign in the differential diagnosis with herpes simplex encephalitis.

[Indocyanine green angiography in "multiple evanescent white dot syndrome" (MEWDS)].

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Desarnaulds, A B; Borruat, F X; Herbort, C P; de Courten, C

1998-05-01

Multiple evanescent white dot syndrome (MEWDS) is a benign acquired chorioretinal disorder occurring mostly in young adults. Its pathophysiology is unknown. To describe the results of indocyanine green angiography (ICGA) in MEWDS. Four patients with MEWDS were investigated by ICGA. In all cases, ICGA revealed numerous choroidal hypofluorescent lesions that largely outnumbered the lesions visible with either fundoscopy or fluorescein angiography. Three cases showed a blind spot enlargement on perimetry associated with the presence of a large peripapillary hypofluorescent zone on ICGA. Three cases showed macular granularity on fundoscopy correlating with a significant subfoveal hypfluorescent lesion on ICGA. Evolution was always favorable with disappearance of the hypofluorescent choroidal lesions. Our results confirm that MEWDS is primarily a choroidal disorder. The blind spot enlargement and the macular granularity, frequently detected in MEWDS, result from larger peripapillary and subfoveal choroidal lesions.

Papillon-Lefevre syndrome with pseudoainhum

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P Ashwani

2010-01-01

Full Text Available An interesting episode of Papillon-Lefevre syndrome in a 25-year-old female with diffuse palmoplantar keratoderma, periodontitis and pseudoainhum of the toes is reported for academic interest. Her skin lesions improved with topical keratolytics and oral retinoid (acitretin whereas periodontic problems showed significant improvement with systemic antibiotics and proper implementation of oral hygienic measures. She is undergoing oral rehabilitation with orthodontic surgical procedures.

Posterior reversible encephalopathy syndrome in a adult female ...

African Journals Online (AJOL)

Typical imaging findings characteristically involve the white matter bilaterally in the parieto-occipital regions. Atypical imaging finding of contrast enhancement of lesion can occur, but is less common. A 20-year-old primiparous lady presented with posterior reversible encephalopathy syndrome. To the best of our knowledge, ...

Anti-Aquaporin-4 Antibody-Positive Neuromyelitis Optica Presenting with Syndrome of Inappropriate Antidiuretic Hormone Secretion as an Initial Manifestation

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H. Nakajima

2011-10-01

Full Text Available The distribution of neuromyelitis optica (NMO-characteristic brain lesions corresponds to sites of high aquaporin-4 (AQP4 expression, and the brainstem and hypothalamus lesions that express high levels of AQP4 protein are relatively characteristic of NMO. The syndrome of inappropriate antidiuretic hormone secretion (SIADH is one of the important causes of hyponatremia and results from an abnormal production or sustained secretion of antidiuretic hormone (ADH. SIADH has been associated with many clinical states or syndromes, and the hypothalamic-neurohypophyseal system regulates the feedback control system for ADH secretion. We report the case of a 63-year-old man with NMO, whose initial manifestation was hyponatremia caused by SIADH. Retrospective analysis revealed that the serum anti-AQP4 antibody was positive, and an MRI scan showed a unilateral lesion in the hypothalamus. SIADH recovered completely with regression of the hypothalamic lesion. As such, NMO should even be considered in patients who develop SIADH and have no optic nerve or spinal cord lesions but have MRI-documented hypothalamic lesions.

Respiratory Therapy for Acute Lung Lesion, by Using Biphasic Positive Pressure Ventilation

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Yu. V. Marchenkov

2005-01-01

Full Text Available Objective. To comparatively study the efficiency of respiratory support in patients with acute lung lesion, by applying BIPAP, SIMV, and aIPPV.Subjects. Twenty-six patients with acute lung lesion whose pattern included acute respiratory distress syndrome (n=16, pneumonia (и=6, and pneumonitis (n=4 were examined. The severity of disease was 18 to 21 APACHE II scale score.Results. The use of BIPAP leads to a better adaptation of a patient to respiratory support, to a reduction in the number of used myorelaxants and sedatives, and to improvement of gas exchange in the lung and diminishes the negative impact of artificial ventilation on hemodynamics. As compared with other types of assisted ventilation, BIPAP accelerates transfer from total respiratory support to spontaneous breathing.

Phalangeal microgeodic syndrome and pine processionary caterpillar.

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Viseux, Véronique; Chaby, Guillaume; Esquenet, Patrick; Ben Taarit, Isabelle; Remond, Alexandre; Lok, Catherine

2003-01-01

We describe an 11-month-old-girl with a 1-month history of edematous fingers. She had been hospitalized 3 months before for a mucocutaneous reaction to a processionary caterpillar. Manifestations of arthritis or systemic illness were absent. Radiographs of fingers showed small round lytic lesions within the middle and distal phalanges. A diagnosis of 'Phalangeal Microgeodic Syndrome' (PMS) was established. Bone biopsy of an osteolytic lesion showed fibrosis and foreign bodies with hair aspect surrounded by an epithelioid granuloma. PMS signs include sub-acute swelling and redness of fingers associated with microgeodic osteolytic lesions of phalanges. Sickle-cell anemia, syphilis, osteomyelitis, tuberculosis and sarcoidosis are the main differential diagnoses to exclude. The etiology is still unknown. Circulatory disturbances in the phalanges exposed to low temperatures have been mentioned by several authors. We describe the first case of PMS in a child with a clear history of play with a caterpillar and the presence of a caterpillar hair with epithelioid granuloma in an osteolytic lesion.

“Sixteen and a half”: a rare neurological syndrome

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Chetan Chaudhari

2012-07-01

Full Text Available "Sixteen and a half" syndrome is a recently coined terminology for a novel pontine neuro-ophthalmological condition. It is characterised by "one and a half" syndrome with an additional ipsilateral seventh and eighth cranial nerve palsy (1½+7+8=16½. We hereby present a case with "sixteen and a half" syndrome, characterised by facial asymmetry, conjugate gaze palsy and unilateral deafness with vertigo. As demonstrated by magnetic resonance imaging, the responsible pontine lesion was a brainstem tuberculoma involving the ipsilateral abducens nucleus and the adjacent medial longitudinal fasciculus (MLF, along with facial and vestibulocochlear nerve. The location of the tuberculoma and the clinical presentation is unusual.

Lupus-Negative Libman-Sacks Endocarditis Complicated by Catastrophic Antiphospholipid Syndrome.

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Murtaza, Ghulam; Iskandar, Joy; Humphrey, Tara; Adhikari, Sujeen; Kuruvilla, Aneesh

2017-04-01

Libman-Sacks endocarditis is characterized by sterile and verrucous lesions that predominantly affect the aortic and mitral valves. In most cases, patients do not have significant valvular dysfunction. However, patients with significant valvular dysfunction may present with serious complications such as cardiac failure, arrhythmias, and thromboembolic events. Recently, association of Libman-Sacks endocarditis with antiphospholipid antibody syndrome (APS) has been made. APS is most commonly defined by venous and arterial thrombosis, recurrent pregnancy loss, and thrombocytopenia. While the syndrome can be a primary syndrome, it is usually secondary to systemic lupus erythematosus. Catastrophic antiphospholipid syndrome (CAPS) can be a life-threatening presentation of APS and can occur in 1% of patients with antiphospholipid syndrome. We present a very rare case of a young female patient with lupus-negative Libman-Sacks endocarditis complicated by CAPS.

[Seronegative antiphospholipid syndrome, catastrophic syndrome, new anticoagulants: learning from a difficult case report].

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Joalland, F; de Boysson, H; Darnige, L; Johnson, A; Jeanjean, C; Cheze, S; Augustin, A; Auzary, C; Geffray, L

2014-11-01

The diagnosis of the antiphospholipid syndrome (APS) is based on clinical and biological criteria including the persistent presence of antiphospholipid antibodies and thrombotic events or pregnancy morbidity. Heparins relayed by vitamin K antagonists (VKA) are the gold standard treatment for thrombosis. We report a 17-year-old man who presented with an initially seronegative antiphospholipid syndrome, in whom the diagnosis was late, only obtained after anticoagulation withdrawing, when a catastrophic antiphospholipid syndrome (CAPS) with cutaneous lesions and disseminated intravascular coagulation syndrome occurred. For personal convenience, this patient was initially treated with fondaparinux followed by a new oral anticoagulant (rivaroxaban) before to return to the conventional VKA treatment. The "seronegative" APS is a controversial concept reflecting the heterogeneity of antigenic targets for aPL. This diagnosis may be considered after a rigorous work-up, with the help of haemostasis laboratories testing new emerging aPL assays. In APS, the new anticoagulants represent an attractive option needing nevertheless prospective studies to evaluate their safety and efficacy. Lupus anticoagulant detection in patients treated by new oral anticoagulants is not easy by usually recommended coagulation tests. Copyright © 2014. Published by Elsevier SAS.

[Antisynthetase syndrome - a case report].

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Prus, Visnja; Bedeković, Drazen; Milas-Ahić, Jasminka; Visević, Roberta; Segec, Branko; Jukić, Zlatica; Perić, Ljiljana

2013-01-01

Twenty-eight year-old woman with predominant signs of polymyositis, pulmonary interstitium involvement and with positive anti-Jo1 antibodies was suspected for antisynthetase syndrome. Over the next three months sores and ulcerations have appeared at the fingertips. In the later course of the disease clinical picture of mixed connective tissue disease associated with interstitial lung disease, with a dominant picture of systemic sclerosis have emerged. She was treated with glucocorticoides and immunosuppressive therapy. Patient condition was mostly stable, without significant progression of lung lesions. Early diagnosis and treatment antisynthetase syndrome significantly contributes to more favorable course and outcome of disease. A prerequisite for that are well-defined diagnostic criteria and an appropriate choice of treatment.

Initial and follow-up MRI in a case of early diagnosed Reye's syndrome

International Nuclear Information System (INIS)

Ozdoba, C.; Pfenninger, J.; Schroth, G.

1997-01-01

Early MRI in a case of clinically established Reye's syndrome confirmed CT findings of compressed ventricles and additionally demonstrated signal alterations in the thalamus, mesencephalon and pons. On follow-up MRI the pontine lesion had vanished by 1 week later, while the thalamic lesion persisted for more than 2 months. The patient, however, recovered without neurological sequelae. (orig.). With 3 figs

Canine hypertrophic osteopathy associated with extra-thoracic lesions Osteopatia hipertrófica canina associada com lesões extratorácicas

OpenAIRE

Selwyn Arlington Headley; Eduardo Alcântara Ribeiro; Gustavo José Von G. dos Santos; Carlos Maia Bettini; Ewaldo Mattos Júnior

2005-01-01

Canine hypertrophic osteopathy is described in a dog that presented extra-thoracic lesions, mainly in the liver. Hepatic lesions were characterized by necrosis, hemorrhage, severe hydropic degeneration of centrolobular hepatocytes, proliferation of epithelial cells of bile ducts, and mild biliary stasis. The disease syndrome was diagnosed based on clinical signs, radiological evaluation, and inspection of macerated bones.Osteopatia hipertrófica canina é descrita em um cão que apresentou lesõe...

Cushing's syndrome in pregnancy and neonatal hypertrophic obstructive cardiomyopathy.

Science.gov (United States)

Fayol, L; Masson, P; Millet, V; Simeoni, U

2004-10-01

Cushing's syndrome is rare in pregnancy but can cause spontaneous abortion, stillbirth or premature birth. We report a case of transient hypertrophic obstructive cardiomyopathy in a newborn whose mother had hypercortisolism due to a primary adrenal lesion. There was no family history of hypertrophic obstructive cardiomyopathy. Follow-up revealed complete resolution of the cardiac abnormalities in the infant. Cushing's syndrome in the mother resolved after delivery. Although maternal hypercortisolism seldom results in symptomatic hypercortisolism in the newborn, hypertrophic obstructive cardiomyopathy can occur.

Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

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Kundan Mittal

2014-01-01

Full Text Available The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.

[Progressive cutaneous and pulmonary lesions without infectious etiology: two cases reports of sweet syndrome with pulmonary involvement].

Science.gov (United States)

Lang, Noémie; Vernez, Maxime; Vollenweider, Peter; Pasche, Antoine

2014-09-17

Sweet syndrome is a non infectious febrile disease with a neutrophilic infiltrate of dermis. Extracutaneous involvement can occur. We report two cases of Sweet syndrome with cutaneous and pulmonary involvement and give a short review of the literature of pulmonary involvement in Sweet syndrome.

Gorlin's syndrome with a thin corpus callosum and a third ventricular cyst

Energy Technology Data Exchange (ETDEWEB)

Kantarci, M.; Alper, F.; Onbas, O. [Department of Radiology, Atatuerk University School of Medicine, Erzurum (Turkey); Ertas, U. [Department of Oral and Maxillofacial Surgery, Atatuerk University School of Dentist, Erzurum (Turkey); Sutbeyaz, Y.; Karasen, R.M. [Otolaryngology, Atatuerk University School of Medicine, Otolaryngology, Erzurum (Turkey)

2003-06-01

Gorlin's syndrome (naevoid basal cell carcinoma) is an autosomal dominant tumor-predisposition syndrome, classically consists of multiple basal cell carcinomas of the skin, odontogenic keratocyst of the jaw, various skeletal abnormalities, and lamellar falx calcifications. Many associated lesions have been reported. We report a case of Gorlin's syndrome in a 22-year-old man in whom CT and MR images showed unusual findings of the thin corpus callosum and third ventricular cyst. We present a case of this syndrome with special emphasis on its unusual neuroradiological findings and radiological management. (orig.)

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Science.gov (United States)

Digilio, Maria Cristina; Gnazzo, Maria; Lepri, Francesca; Dentici, Maria Lisa; Pisaneschi, Elisa; Baban, Anwar; Passarelli, Chiara; Capolino, Rossella; Angioni, Adriano; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno

2017-11-01

The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%). Additional CHDs diagnosed in single patients included aortic dilatation with mitral anomaly and hypoplastic left heart syndrome. We also reviewed CHDs in patients with a molecular diagnosis of Kabuki syndrome reported in the literature. In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left-sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation. © 2017 Wiley Periodicals, Inc.

The Korsakoff syndrome: clinical aspects, psychology and treatment.

Science.gov (United States)

Kopelman, Michael D; Thomson, Allan D; Guerrini, Irene; Marshall, E Jane

2009-01-01

The Korsakoff syndrome is a preventable memory disorder that usually emerges (although not always) in the aftermath of an episode of Wernicke's encephalopathy. The present paper reviews the clinical and scientific literature on this disorder. A systematic review of the clinical and scientific literature on Wernicke's encephalopathy and the alcoholic Korsakoff syndrome. The Korsakoff syndrome is most commonly associated with chronic alcohol misuse, and some heavy drinkers may have a genetic predisposition to developing the syndrome. The characteristic neuropathology includes neuronal loss, micro-haemorrhages and gliosis in the paraventricular and peri-aqueductal grey matter. Lesions in the mammillary bodies, the mammillo-thalamic tract and the anterior thalamus may be more important to memory dysfunction than lesions in the medial dorsal nucleus of the thalamus. Episodic memory is severely affected in the Korsakoff syndrome, and the learning of new semantic memories is variably affected. 'Implicit' aspects of memory are preserved. These patients are often first encountered in general hospital settings where they can occupy acute medical beds for lengthy periods. Abstinence is the cornerstone of any rehabilitation programme. Korsakoff patients are capable of new learning, particularly if they live in a calm and well-structured environment and if new information is cued. There are few long-term follow-up studies, but these patients are reported to have a normal life expectancy if they remain abstinent from alcohol. Although we now have substantial knowledge about the nature of this disorder, scientific questions (e.g. regarding the underlying genetics) remain. More particularly, there is a dearth of appropriate long-term care facilities for these patients, given that empirical research has shown that good practice has beneficial effects.

A rare presentation of atypical demyelination: tumefactive multiple sclerosis causing Gerstmann’s syndrome

Science.gov (United States)

2014-01-01

Background Tumefactive demyelinating lesions are a rare manifestation of multiple sclerosis (MS). Differential diagnosis of such space occupying lesions may not be straightforward and sometimes necessitate brain biopsy. Impaired cognition is the second most common clinical manifestation of tumefactive MS; however complex cognitive syndromes are unusual. Case presentation We report the case of a 30 year old woman who presented with Gerstmann’s syndrome. MRI revealed a large heterogeneous contrast enhancing lesion in the left cerebral hemisphere. Intravenous corticosteroids did not stop disease progression. A tumour or cerebral lymphoma was suspected, however brain biopsy confirmed inflammatory demyelination. Following diagnosis of tumefactive MS treatment with natalizumab effectively suppressed disease activity. Conclusions The case highlights the need for clinicians, radiologists and surgeons to appreciate the heterogeneous presentation of tumefactive MS. Early brain biopsy facilitates rapid diagnosis and management. Treatment with natalizumab may be useful in cases of tumefactive demyelination where additional evidence supports a diagnosis of relapsing MS. PMID:24694183

Pulmonary manifestations in anaphylactoid purpura (Henoch-Schoenlein syndrome)

International Nuclear Information System (INIS)

Fiegler, W.; Siemoneit, K.D.

1981-01-01

Pulmonary manifestations in anaphylactoid purpura (Henoch-Schoenlein-syndrome). Radiological observations are reported on 2 female adults with Henoch-Schoenlein-syndrome accompanied by reversible pulmonary disease. This form of anaphylaktoid purpura has rarely been reported until now. The pulmonary opacities are regarded as intraalveolar bleeding probably with edem and interstitial perivascular infiltrations. They developed at the same time as the skin lesions and are probably part of the disease. These pulmonary changes are characterized by the following radiological criteria: 1. parahilar, butterfly-shaped opacities, 2. air-bronchograms, 3. reticulo-nodular pattern, 4. rapid change. (orig.) [de

Nicolau Syndrome after Intramuscular Injection: 3 Cases

Directory of Open Access Journals (Sweden)

Seok-Kwun Kim

2012-05-01

Full Text Available Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemicnecrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristicpattern is pain around the injection site, developing into erythema, a livedoid dermatitispatch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients wereinjected with drugs (diclofenac sodium, ketoprofen, meperidine for pain relief. Three patientscomplained of pain, and a skin lesion was observed, after which necrosis developed on theirbuttocks. Each patient underwent debridement and coverage. The wound healed uneventfully.We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscularinjection.

Positron emission tomography in the Rett syndrome

International Nuclear Information System (INIS)

Naidu, S.; Wong, D.F.; Kitt, C.; Wenk, G.; Moser, H.W.

1992-01-01

A consistent constellation of clinical signs and symptoms define the Rett syndrome, the most prominent of which are disorders of movement and tone. Preliminary pathologic and neurochemical data indicate predominant involvement of the nigrostriatal dopaminergic pathways and the cholinergic system of the basal forebrain region. The age of onset differentiates the Rett syndrome from Alzheimer and Parkinson disease with similar lesions. PET scanning makes it possible to relate the chemistry of the brain to function by measuring the number and affinity of neuroreceptors, metabolism in specific brain regions, and provide important determinants of the underlying mechanisms in disease states. (author)

Widely scattered CT lesions in the midbrain and the pons in a case of neuro-Behcet's syndrome

International Nuclear Information System (INIS)

Kuroiwa, Yoshiyuki; Tohgi, Hideo; Kanayama, Hiroumi; Fujimori, Masaki; Aoki, Hidehiko

1985-01-01

We report on a 30-year-old man with neuro-Behcet's disease. His main neurologic symptoms and signs included headache, alternating hemiparesis, dysarthria, and truncal ataxia. Lumbar puncture demonstrated an elevated pressure, pleocytosis, and an increased protein concentration. Intravenous betamethasone produced a rapid and sustained improvement, without recurrence for two years. Widely scattered foci of small, low-density lesions were disclosed in the midbrain and the pons on a cranial CT scan with 2.5 mm thin-cut slices to enable us to focus on the brainstem. Such CT lesions are consistent with the neuropathological features of this illness, which shows a tendency for brainstem lesions to predominate; these lesions probably represent necrotic areas secondary to vasculitis. Brainstem CT studies with thin-cut slices may be an important diagnostic aid in patients suspected of having neuro-Behcet's disease. (author)

[Hematotoxic lesions caused by non-steroidal antirheumatic agents].

Science.gov (United States)

Stobbe, H; Hüge, W

1980-12-01

Among the lesions of haematopoiesis conditioned by medicaments the lesions by non-steroidal antirheumatic drugs occupy the first place. They get their significance by the fact that they are not so infrequently irreparable and thus show an unfavourable prognosis. On principle in pathogenetic respect lesions by immunologic reactions which vastly do not depend on the dosage, are to be demarcated from the toxically conditioned side-effects which depend on dosage. Conditioned by drugs aplastic syndromes of the bone marrow are not in every case strongly depending on dosage. For this is to be assumed an individual, particular sensitivity of the haematopoietic stem cells (stem cell defect). Of the anti-rheumatic drugs used for the basic therapy chloroquine derivations, gold, D-penicillamine, immunosuppressives and levamisol may effect disturbances of the haematopoiesis, for which facts are examples are given. This concerns also the symptomatically acting antirheumatic drugs. An overestimation of rare side-effects of drugs should not block the application of certain medicaments, however, they should be given only in such a high dosage as it is necessary. In combinations of antirheumatic drugs every individual drug is considered as causative factor. Interactions are particularly be taken into consideration. Control programmes, particularly with certain laboratory parameters, give the early recognition of side-effects and render possible to avoid severe effects.

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome.

Science.gov (United States)

Henry, Caitlin; Patel, Neema; Shaffer, William; Murphy, Lillian; Park, Joe; Spieler, Bradley

2017-01-01

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management. This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy.

Volvulus as a complication of chronic intestinal pseudo-obstruction syndrome

NARCIS (Netherlands)

C.T. de Betue (Carlijn); D. Boersma (Doeke); M.W. Oomen (Matthijs W.); M.A. Benninga (Marc); J.R. de Jong (Justin)

2011-01-01

textabstractChronic intestinal pseudo-obstruction syndrome (CIPS) is a severe motility disorder of the gastrointestinal tract that presents with continuous or recurrent symptoms and signs of intestinal obstruction without evidence of a structural lesion occluding the intestinal lumen. Mechanical

Volvulus as a complication of chronic intestinal pseudo-obstruction syndrome

NARCIS (Netherlands)

de Betue, Carlijn T.; Boersma, Doeke; Oomen, Matthijs W.; Benninga, Marc A.; de Jong, Justin R.

2011-01-01

Chronic intestinal pseudo-obstruction syndrome (CIPS) is a severe motility disorder of the gastrointestinal tract that presents with continuous or recurrent symptoms and signs of intestinal obstruction without evidence of a structural lesion occluding the intestinal lumen. Mechanical obstruction

Primary Sjogren%u2019s Syndrome Associated with Basal Cell Carcinoma: Case Report

Directory of Open Access Journals (Sweden)

Tugba Kosker

2013-04-01

Full Text Available Sjogren%u2019s syndrome is a chronic autoimmune disease characterized by xerostomia and xerophthalmia, known as the %u2018sicca symptoms%u2019. Patients with Sjogren%u2019s syndrome, characteristically have positive nuclear and cytoplasmic antigens, typically Anti-Ro/SSA and Anti-La/SSB because of lymphocytic infiltration of the exocrine glands. Patients with primary Sjogren%u2019s syndrome, develop systemic complications, non-Hodgkin lymphoma being the most feared of these. We describe here a case of Sjogren%u2019s syndrome with basal cell carcinoma, which presented with an ulcerated lesion on nasal dorsum.

Unusual cortical bone features in a patient with gorlin-goltz syndrome: a case report.

Science.gov (United States)

Tarnoki, Adam Domonkos; Tarnoki, David Laszlo; Klara Kiss, Katalin; Bata, Pal; Karlinger, Kinga; Banvolgyi, Andras; Wikonkal, Norbert; Berczi, Viktor

2014-12-01

Gorlin-Goltz syndrome (GGS) consists of ectodermal and mesodermal abnormalities. In this case report we will investigate lower extremity lesions of GGS. A 52-year-old man with GGS underwent skull and lower extremity computer tomography. Radiographic findings included cervical spondylosis, transparent areas with slurred margins, and cerebral falx calcification. Tibial and fibular specific cortical lesions (thin cortical and subcortical cystic lesions) were seen on the radiography, which was confirmed by computer tomography. To our knowledge, this is the first report of such a long lesion of the tibia and fibula. Specific lower extremity cortical lesions (thin cortical and subcortical cystic lesions) may occur and these abnormalities can be found on radiography or CT, which are most probably attributed to retinoid treatment.

Unusual Cortical Bone Features in a Patient with Gorlin-Goltz Syndrome: A Case Report

International Nuclear Information System (INIS)

Tarnoki, Adam Domonkos; Tarnoki, David Laszlo; Klara Kiss, Katalin; Bata, Pal; Karlinger, Kinga; Banvolgyi, Andras; Wikonkal, Norbert; Berczi, Viktor

2014-01-01

Gorlin-Goltz syndrome (GGS) consists of ectodermal and mesodermal abnormalities. In this case report we will investigate lower extremity lesions of GGS. A 52-year-old man with GGS underwent skull and lower extremity computer tomography. Radiographic findings included cervical spondylosis, transparent areas with slurred margins, and cerebral falx calcification. Tibial and fibular specific cortical lesions (thin cortical and subcortical cystic lesions) were seen on the radiography, which was confirmed by computer tomography. To our knowledge, this is the first report of such a long lesion of the tibia and fibula. Specific lower extremity cortical lesions (thin cortical and subcortical cystic lesions) may occur and these abnormalities can be found on radiography or CT, which are most probably attributed to retinoid treatment

Elsberg syndrome

Science.gov (United States)

Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

2017-01-01

Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

An unusual association of headache, epilepsy, and late-onset Kleist’s pseudodepression syndrome in frontal lobe cavernoma of the cerebral left hemisphere

Directory of Open Access Journals (Sweden)

Chirchiglia D

2017-05-01

Full Text Available Domenico Chirchiglia,1 Attilio Della Torre,1 Domenico Murrone,2 Pasquale Chirchiglia,3 Rosa Marotta4 1Department of Neurosurgery, Neurophysiopathology Unit, University of Catanzaro “Magna Graecia”, Catanzaro, 2Neurosurgery Department, Di Venere Hospital, Bari, 3School of Medicine, University of Catanzaro, Catanzaro, 4Department of Medical and Surgical Sciences, University of Catanzaro, Catanzaro, Italy Abstract: Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors. Psychopathological syndrome can be depression-type, pseudodepression syndrome or maniac-type, pseudomaniac syndrome. Surgical treatment of lesions like this may not always be possible due to their location in eloquent areas. In this study, we describe an unusual association of migraine-like headache, epilepsy and frontal lobe pseudodepression late-onset syndrome in the same patient. We have considered this case interesting mainly for the rarity of both a headache with migraine features and for the late onset of pseudodepression syndrome. Pathophysiology underlying migraine-like headache and that concerning the late-onset pseudodepression frontal lobe syndrome seems to be unclear. This case leads to further hypotheses about the mechanisms responsible for headache syndromes and psychopathological disorders, in the specific case when caused by a cerebral frontal lobe lesion. Keywords: cerebral cavernoma, cavernous angioma, headache, frontal syndrome, pseudodepression syndrome 

Evaluation of MEWDS-like lesions with fluorescein angiography and its frequency at an ophthalmic emergency department in Rio de Janeiro

OpenAIRE

Dias, Lillian Abreu; Morizot, Eduardo H.

2015-01-01

ABSTRACTPurpose:To characterize multiple evanescent white dot syndrome (MEWDS)-like lesions as diagnosed by clinical exam and fluorescein angiography (FA) to build an epidemiological profile of this disease and highlight the most common angiographical aspects. It is important to emphasize the existence of this syndrome and improve patients’ information about the natural good course of this disease.Methods:A cross-sectional study including all FA performed from July 2006 to October 2012 (6,111...

Evaluation of MEWDS-like lesions with fluorescein angiography and its frequency at an ophthalmic emergency department in Rio de Janeiro

OpenAIRE

Dias,Lillian Abreu; Morizot,Eduardo H.

2015-01-01

ABSTRACTPurpose:To characterize multiple evanescent white dot syndrome (MEWDS)-like lesions as diagnosed by clinical exam and fluorescein angiography (FA) to build an epidemiological profile of this disease and highlight the most common angiographical aspects. It is important to emphasize the existence of this syndrome and improve patients’ information about the natural good course of this disease.Methods:A cross-sectional study including all FA performed from July 2006 to October 2012 ...

Clinical features and imaging findings in a case of Capgras syndrome.

Science.gov (United States)

Luca, Maria; Bordone, Andrea; Luca, Antonina; Patti, Andrea; Sortino, Giuseppe; Calandra, Carmela

2013-01-01

Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep), as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness.

Clinical features and imaging findings in a case of Capgras syndrome

Science.gov (United States)

Luca, Maria; Bordone, Andrea; Luca, Antonina; Patti, Andrea; Sortino, Giuseppe; Calandra, Carmela

2013-01-01

Capgras syndrome consists of the delusional belief that a person or persons have been replaced by doubles or impostors. It can occur in the context of both psychiatric and organic illness, and seems to be related to lesions of the bifrontal and right limbic and temporal regions. Indeed, magnetic resonance imaging has revealed brain lesions in patients suffering from Capgras syndrome. This case study reports the findings of a thorough diagnostic evaluation in a woman suffering from Capgras syndrome and presenting with the following clinical peculiarities: obsessive modality of presentation of the delusional ideation, intrusiveness of such ideation (that even disturbed her sleep), as well as a sense of alienation and utter disgust towards the double. These characteristics bring to mind the typical aspects of obsessive-compulsive disorder. Neuroanatomic investigation, through magnetic resonance imaging, performed on this patient showed alteration of the bilateral semioval centers, which are brain regions associated with the emotion of disgust and often show alterations in subjects suffering from obsessive-compulsive disorder. Hence, neuroimaging allows researchers to put forward the hypothesis of a common neuroanatomic basis for Capgras syndrome and obsessive-compulsive disorder, at least for cases in which the delusional ideation is associated with deep feelings of disgust and presents with a certain pervasiveness. PMID:23950650

Nelson's syndrome in pregnancy

International Nuclear Information System (INIS)

Surrey, E.S.; Chang, R.J.

1985-01-01

The therapeutic considerations in the management of Nelson's syndrome in a 29 year old primigravida are described. CT scans revealed a 2-cm solid pituitary lesion with suprasellar extension and chiasmatic encroachment. A transsphenoidal hypophysectomy was performed to remove a eosinophilic pituitary adenoma. The patient's symptoms improved following surgery. Fetal growth was followed by ultrasound and a female infant was delivered by cesarean section. Follow-up CT scan 2 weeks after delivery revealed no evidence of tumor recurrence

Familial Melanoma Associated with Li-Fraumeni Syndrome and Atypical Mole Syndrome: Total-body Digital Photography, Dermoscopy and Confocal Microscopy.

Science.gov (United States)

Giavedoni, Priscila; Ririe, Marnie; Carrera, Cristina; Puig, Susana; Malvehy, Josep

2017-06-09

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder caused by a mutation in the p53 gene. Melanoma is considered to be a rare, controversial component of LFS. The aim of this study is to describe the utility of systematic screening for melanoma in patients with LFS and atypical mole syndrome. Two 28-year-old identical twin sisters with LFS and atypical moles were monitored by physical examination, total-body digital photography and dermoscopy be-tween 2006 and 2014. A total of 117, predominantly dark-brown, reticular naevi were identified on case 1 and 105 on case 2. Excisions were performed during the evaluation period of 1 in-situ melanoma and 3 basal cell carcinomas in case 1, and 1 in-situ melanoma and 1 early invasive melanoma in case 2. The remaining melanocytic lesions in both patients were stable during follow-up. The 3 melanomas were new atypical lesions detected with total-body photography and dermoscopy. In conclusion, monitoring LFS patients with total-body photography and dermoscopy may be useful to detect early melanoma.

Burning mouth syndrome: Clinical description, pathophysiological approach, and a new therapeutic option.

Science.gov (United States)

Cárcamo Fonfría, A; Gómez-Vicente, L; Pedraza, M I; Cuadrado-Pérez, M L; Guerrero Peral, A L; Porta-Etessam, J

2017-05-01

Burning mouth syndrome is defined as scorching sensation in the mouth in the absence of any local lesions or systemic disease that would explain that complaint. The condition responds poorly to commonly used treatments and it may become very disabling. We prospectively analysed the clinical and demographic characteristics and response to treatment in 6 cases of burning mouth syndrome, diagnosed at 2 tertiary hospital headache units. Six female patients between the ages of 34 and 82 years reported symptoms compatible with burning mouth syndrome. In 5 of them, burning worsened at the end of the day; 4 reported symptom relief with tongue movements. Neurological examinations and laboratory findings were normal in all patients and their dental examinations revealed no buccal lesions. Each patient had previously received conventional treatments without amelioration. Pramipexol was initiated in doses between 0.36mg and 1.05mg per day, resulting in clear improvement of symptoms in all cases, a situation which continues after a 4-year follow up period. Burning mouth syndrome is a condition of unknown aetiology that shares certain clinical patterns and treatment responses with restless leg syndrome. Dopamine agonists should be regarded as first line treatment for this entity. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Gianotti-Crosti syndrome: a case report of a teenager.

Science.gov (United States)

Pedreira, Renata Leite; Leal, Juliana Martins; Silvestre, Keline Jácome; Lisboa, Alice Paixão; Gripp, Alexandre Carlos

2016-01-01

Gianotti-Crosti syndrome is a rare disease characterized by acral papular eruption with symmetrical distribution. It is a benign and self-limited disease; the symptoms disappear after two to eight weeks, without recurrences or scars. Skin lesions are usually asymptomatic. Prodrome might occur, suggesting upper respiratory infection, or constitutional symptoms. Diagnosis is eminently clinical, and this disease is associated with viral infections. Due to its rarity and low occurrence in adolescents and adults, we report a case of Gianotti-Crosti syndrome of a teenager.

Mutation in LEMD3 (Man1 Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

Directory of Open Access Journals (Sweden)

Benjamin Korman

2016-01-01

Full Text Available Introduction. Buschke-Ollendorf syndrome (BOS is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.

Patient with confirmed LEOPARD syndrome developing multiple melanoma.

Science.gov (United States)

Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

2018-01-01

LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.

Involvement of lipoprotein(a) phenotypes in the etiology of cerebral white matter lesion seen in the elderly with geriatric syndrome

International Nuclear Information System (INIS)

Nakai, Toshiki; Koyama, Syun-ichi; Kanetaka, Hidekazu; Iwamoto, Toshihiko; Arai, Hisayuki

2009-01-01

Lipoprotein(a) [Lp(a)], an apolipoprotein(a) combined with apoB100 protein and low-density lipoprotein (LDL) cholesterol, has a variety of phenotypes, mainly due to the number of kringle 4 type 2 within the apolipoprotein(a), and kringle 4 type 2 is extremely similar to plasminogen. Lp(a) is well-known as a risk factor for atherosclerosis, however, the association between Lp(a) phenotypes and the etiology of cerebral white matter lesion, so-called leukoaraiosis seen commonly in the elderly, remains unclear. We therefore conducted a study in 113 elderly patients with geriatric syndrome by assessing MR images and determining the Lp(a) phenotypes. They were divided into 4 groups according to the Fazekas scale for grading leukoaraiosis, and we compared the distribution of Lp(a) phenotypes and background factors in each group. Factors related to severe leuko-araiosis were also studied by multivariate analysis. There were no significant differences in age or gender among groups. Alzheimer disease and cardioembolic stroke were frequently seen in groups without leukoaraiosis or with mild leukoaraiosis, whereas the frequencies of vascular risks, previous history of stroke and vascular dementia were high in group with severe leukoaraiosis. Multivariate analysis showed strong association of S4 homozygote of the Lp(a) phenotype to severe leukoaraiosis, indicating the S4 homozygote as an independent factor for severe leukoaraiosis as well as hypertension, a high level of Lp(a) of 40 mg/dl or more. Among all patients, a high Lp(a) level and S4 homozygote, showing a low level of Lp(a), were seen in 20.4%, respectively. This contradictory finding that high levels of Lp(a) and S4 homozygote were both associated with severe leukoaraiosis indicated the possibility of different mechanisms for developing white matter lesions; a high level of Lp(a) (LDL cholesterol and apoB100 protein rich) promotes atherosclerosis of major arteries such as the carotid artery, while S4 homozygote [low

Blue toe syndrome treated with sympathectomy in a patient with acute renal failure caused by cholesterol embolization

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Min-Gang Kim

2013-12-01

Full Text Available Blue toe syndrome is the most frequent manifestation of tissue ischemia caused by cholesterol embolization (CE, which can lead to amputation of affected lower extremities, if severe. However, any effective treatment is lacking. We experienced a case of spontaneously presenting blue toe syndrome and concomitant acute renal failure in a patient with multiple atherosclerotic risk factors. CE was confirmed by renal biopsy. Despite medical treatment including prostaglandin therapy and narcotics, the toe lesion progressed to gangrene with worsening ischemic pain. Therefore, we performed lumbar sympathectomy, which provided dramatic pain relief as well as an adequate blood flow to the ischemic lower extremities, resulting in healing of the gangrenous lesion and avoiding toe amputation. This is the first reported case of a patient with intractable ischemic toe syndrome caused by CE that was treated successfully by sympathectomy. Our observations suggest that sympathectomy may be beneficial in some patients with CE-associated blue toe syndrome.

Churg-Strauss Syndrome following PTU Treatment

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R. A. M. Quax

2009-01-01

Full Text Available Propylthiouracil (PTU is a frequently prescribed drug in the treatment of hyperthyroidism. The use of PTU is, however, accompanied by numerous potentially serious side effects including vasculitis. PTU-related vasculitides can present as haematuria, pulmonary haemorrhage, or cutaneous lesion together with aspecific symptoms such as fever, myalgia, arthralgia, and fatigue. Cerebral involvement is seldom observed. We present a 49-year-old female with Graves' disease and asthma, who developed paresis of the proximal extremities, eosinophilia, pulmonary, and cutaneous lesions following treatment with PTU. A cerebral vasculitis consistent with Churg-Strauss syndrome (CSS was suspected. Although cerebral involvement is seldom observed with PTU treatment, cerebral vasculitis should be considered in patients developing CNS symptoms.

[Tapia's syndrome following transesophageal echocardiography during an open-heart operation: a case report].

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Fujiwara, Satoru; Yoshimura, Hajime; Nishiya, Kenta; Oshima, Keiichi; Kawamoto, Michi; Kohara, Nobuo

2017-12-27

A 67-year-old man presented with hoarseness, dysarthria and deviation of the tongue to the left side the day after the open-heart operation under general anesthesia. Brain MRI demonstrated no causal lesion, and laryngoscope showed left vocal cord abductor palsy, so we diagnosed him with Tapia's syndrome (i.e., concomitant paralysis of the left recurrent and hypoglossal nerve). His neurological symptoms recovered gradually and improved completely four months after the onset. Tapia's syndrome is a rare condition caused by the extra cranial lesion of the recurrent laryngeal branch of the vagus nerve and the hypoglossal nerve, and mostly described as a complication of tracheal intubation. In this case, transesophageal echo probe has been held in the left side of the pharynx, so compression to the posterior wall of pharynx by the probe resulted in this condition, and to the best of our knowledge, this is the first report of Tapia's syndrome due to transesophageal echocardiography during an open-heart operation. This rare syndrome should be considered as a differential diagnosis of dysarthria and tongue deviation after a procedure associated with compression to the pharynx.

One-and-a-half syndrome in pontine infarcts: MRI correlates

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Seze, J. de; Lucas, C.; Vermersch, P.; Leys, D. [Department of Neurology, Stroke Unit, Hopital R. Salengro, CHRU de Lille (France); Leclerc, X.; Sahli, A. [Department of Neuroradiology, Lille University Hospital, Lille (France)

1999-09-01

The one-and-a-half syndrome is characterised by a lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other. It is due to a unilateral lesion of the dorsal pontine tegmentum, involving the ipsilateral paramedian pontine reticular formation, internuclear fibres of the ipsilateral medical longitudinal fasciculus and, usually, the abducens nucleus. The main causes of this rare syndrome are stroke and multiple sclerosis. Few cases have been reported since the introduction of MRI. Our aim was to examine clinicoradiological correlations in six patients with a one-and-a-half syndrome due to a stroke. Ophthalmological symptoms were diplopia, oscillopsia or blurred vision. Four patients had an associated facial nerve palsy, three a hemiparesis and one a unilateral hemihypoaesthesia. MRI revealed an infarct in the pons in all patients. The cause of the infarct was a basilar artery dissection in one patient, bilateral vertebral artery dissection in a second and unknown in the other four. All patients recovered within 2 days to 8 weeks. This study showed a good correlation between the site of the lesion (superior, inferior or extensive pontine ischaemia) and clinical deficits. (orig.)

One-and-a-half syndrome in pontine infarcts: MRI correlates

International Nuclear Information System (INIS)

Seze, J. de; Lucas, C.; Vermersch, P.; Leys, D.; Leclerc, X.; Sahli, A.

1999-01-01

The one-and-a-half syndrome is characterised by a lateral gaze palsy in one direction and internuclear ophthalmoplegia in the other. It is due to a unilateral lesion of the dorsal pontine tegmentum, involving the ipsilateral paramedian pontine reticular formation, internuclear fibres of the ipsilateral medical longitudinal fasciculus and, usually, the abducens nucleus. The main causes of this rare syndrome are stroke and multiple sclerosis. Few cases have been reported since the introduction of MRI. Our aim was to examine clinicoradiological correlations in six patients with a one-and-a-half syndrome due to a stroke. Ophthalmological symptoms were diplopia, oscillopsia or blurred vision. Four patients had an associated facial nerve palsy, three a hemiparesis and one a unilateral hemihypoaesthesia. MRI revealed an infarct in the pons in all patients. The cause of the infarct was a basilar artery dissection in one patient, bilateral vertebral artery dissection in a second and unknown in the other four. All patients recovered within 2 days to 8 weeks. This study showed a good correlation between the site of the lesion (superior, inferior or extensive pontine ischaemia) and clinical deficits. (orig.)

Congenital constriction ring syndrome of the limbs: A prospective ...

African Journals Online (AJOL)

In the upper limb malformations involved 42 digits; in the lower limb malformations involved 33 toes, one foot and fi ve legs. Four main types of lesions were found: constriction rings, intrauterine amputations, acrosyndactyly, and simple syndactyly. Conclusion: Congenital constriction ring syndrome is of uncertain aetiology ...

Pharmacological testing in Horner's syndrome – a new paradigm ...

African Journals Online (AJOL)

For more than three decades, topical cocaine has been used to confirm the diagnosis and hydroxyamphetamine to localise the causative lesion in oculosympathetic palsy or Horner's syndrome. More recently, other drugs have demonstrated the ability to point to the diagnosis or anatomical site. Apraclonidine and ...

Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome.

Science.gov (United States)

Pena, Andres H; Chaudhry, Ammar; Seidman, Roberta J; Peyster, Robert; Bangiyev, Lev

2016-01-01

Ectopic craniopharyngioma is uncommon and a craniopharyngioma confined purely within the fourth ventricle is extremely rare. We report a craniopharyngioma of the fourth ventricle in a 20-year-old man with Gardner syndrome. Imaging characteristics of craniopharyngiomas and fourth ventricle lesions are discussed with a review of the literature regarding the pathogenesis of craniopharyngiomas and the possible association with Gardner syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

Basal cell nevus syndrome: 2 case reports

International Nuclear Information System (INIS)

Kim, Jae Duk; Seo, Yo Seob; Kim, Jin Soo

2008-01-01

The basal cell nevus syndrome (BCNS) is an autosomal dominant disorder, characterized by basal cell carcinomas, odontogenic keratocysts and skeletal abnormalities. We experienced two cases that represented several characteristics of BCNS. Case 1: a thirty three year-old man visited CSU hospital. His radiographs showed four cystic lesions at both maxillary sinus and both mandibular angle, with bifid rib and ectopic calcification of falx cerebri. After marsupialization and enucleation, recurrent and newly developing tendency were found on his follow-up radiographs. Case 2: a seventeen year-old man had four large cystic lesions which were diagnosed as odontogenic keratocysts. He had craniofacial anomalies which included ectopic calcification and frontal bossing.

Bowel-associated dermatosis-arthritis syndrome in an adolescent with short bowel syndrome.

Science.gov (United States)

Pereira, Ester; Estanqueiro, Paula; Almeida, Susana; Ferreira, Ricardo; Tellechea, Oscar; Salgado, Manuel

2014-09-01

Bowel-associated dermatosis-arthritis syndrome (BADAS) is a neutrophilic dermatosis, characterized by the occurrence of arthritis and skin lesions related to bowel disease with or without bowel bypass. We report an unusual case of BADAS in a 15-year-old white male with congenital aganglionosis of the colon and hypoganglionosis of the small intestine and multiple bowel surgeries in childhood complicated by short bowel syndrome. He presented with recurrent peripheral polyarthritis, tenosynovitis, and painful erythematous subcutaneous nodules located on the dorsolateral regions of the legs and on the dorsa of the feet. Histological examination disclosed a neutrophilic dermatosis confirming the diagnosis of BADAS.Although an uncommon disease, especially at pediatric age, it is important to evoke the diagnosis of BADAS in children and adolescents with bowel disease, because treatment options and prognosis are distinct from other rheumatologic conditions.

Flexor pollicis longus tenosynovitis in patients with carpal tunnel syndrome.

Science.gov (United States)

Manfield, Laura; Thomas, Mark; Lee, Se Won

2014-06-01

Carpal tunnel syndrome is typically diagnosed from history and physical examination then confirmed with electrodiagnosis. Electrodiagnosis provides only limited anatomic information and evaluation of space-occupying lesions. The authors present two cases in which demonstrated flexor pollicis longus tenosynovitis coexistent with carpal tunnel syndrome was diagnosed with ultrasonography. Ultrasonography is an effective modality that enhances the investigation of diseases in the soft tissues of the wrist and the hand. It can be useful in directing specific treatment by increasing diagnostic accuracy.

Evidence for a role of orexin/hypocretin system in vestibular lesion-induced locomotor abnormalities in rats

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Leilei Pan

2016-07-01

Full Text Available Vestibular damage can induce locomotor abnormalities in both animals and humans. Rodents with bilateral vestibular loss showed vestibular deficits syndrome such as circling, opisthotonus as well as locomotor and exploratory hyperactivity. Previous studies have investigated the changes in the dopamine system after vestibular loss, but the results are inconsistent and inconclusive. Numerous evidences indicate that the orexin system is implicated in central motor control. We hypothesized that orexin may be potentially involved in vestibular loss-induced motor disorders. In this study, we examined the effects of arsanilate- or 3, 3′-iminodipropionitrile (IDPN-induced vestibular lesion (AVL or IVL on the orexin-A (OXA labeling in rat hypothalamus using immunohistochemistry. The vestibular lesion-induced locomotor abnormalities were recorded and verified using a histamine H4 receptor antagonist JNJ7777120 (20 mg/kg, i.p.. The effects of the orexin receptor type 1 antagonist SB334867 (16 μg, i.c.v. on these behavior responses were also investigated. At 72 h post-AVL and IVL, animals exhibited vestibular deficit syndrome and locomotor hyperactivity in the home cages. These responses were significantly alleviated by JNJ7777120 which also eliminated AVL-induced increases in exploratory behavior in an open field. The numbers of OXA-labeled neurons in the hypothalamus were significantly increased in the AVL animals at 72 h post-AVL and in the IVL animals at 24, 48 and 72 h post-IVL. SB334867 significantly attenuated the vestibular deficit syndrome and locomotor hyperactivity at 72 h post-AVL and IVL. It also decreased exploratory behavior in the AVL animals. These results suggested that the alteration of OXA expression might contribute to locomotor abnormalities after acute vestibular lesion. The orexin receptors might be the potential therapeutic targets for vestibular disorders.

Imitation inhibition in children with Tourette syndrome.

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Brandt, Valerie Cathérine; Moczydlowski, Agnes; Jonas, Melanie; Boelmans, Kai; Bäumer, Tobias; Brass, Marcel; Münchau, Alexander

2017-08-12

Echopraxia, that is, the open and automatic imitation of other peoples' actions, is common in patients with Gilles de la Tourette syndrome, autism spectrum disorder, and also those with frontal lobe lesions. While systematic reaction time tasks have confirmed increased automatic imitation in the latter two groups, adult patients with Tourette syndrome appear to compensate for automatic imitation tendencies by an overall slowing in response times. However, whether children with Tourette syndrome are already able to inhibit automatic imitation tendencies has not been investigated. Fifteen children with Tourette syndrome and 15 healthy children (aged 7-12 years) performed an imitation inhibition paradigm. Participants were asked to respond to an auditory cue by lifting their index finger or their little finger. Participants were simultaneously presented with either compatible or incompatible visual stimuli. Overall responses in children with Tourette syndrome were slower than in healthy children. Although responses were faster in compatible than in incompatible trials in both groups, this 'interference effect' was smaller in children with Tourette syndrome. Children with Tourette syndrome have a smaller interference effect than healthy children, indicating an enhanced ability to behaviourally control automatic imitation tendencies at the cost of reacting slower. The results suggest that children with Tourette syndrome already employ different or additional inhibition strategies compared to healthy children. © 2017 The British Psychological Society.

Rebound Syndrome in Patients With Multiple Sclerosis After Cessation of Fingolimod Treatment.

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Hatcher, Stacy Ellen; Waubant, Emmanuelle; Nourbakhsh, Bardia; Crabtree-Hartman, Elizabeth; Graves, Jennifer S

2016-07-01

The appropriate sequencing of agents with strong immune system effects has become increasingly important. Transitions require careful balance between safety and protection against relapse. The cases presented herein highlight that rebound events after ceasing fingolimod treatment may happen even with short washout periods (4 weeks) and may perpetuate despite steroid treatment or the immediate use of fast-acting immune therapies, such as rituximab. To describe rebound syndrome in patients with multiple sclerosis (MS) after cessation of fingolimod treatment. Clinical and demographic data were extracted from electronic medical records from the University of California, San Francisco, Multiple Sclerosis Center from January 2014 to December 2015. Magnetic resonance images were reviewed by MS neurologists (J.S.G., E.W., B.N., and E.C.H.). Rebound syndrome was defined as new severe neurological symptoms after ceasing fingolimod treatment, with the development of multiple new or enhancing lesions exceeding baseline activity. We reviewed the PubMed database from January 2010 to December 2015 for similar cases of severe disease reactivation after ceasing fingolimod treatment using search terms fingolimod and either rebound or reactivation. Participants were included if they stopped receiving fingolimod between January 2014 and December 2015. Five patients were identified who experienced rebound after ceasing fingolimod treatment. Each patient received treatment with oral fingolimod for various durations. Occurrence of rebound after ceasing fingolimod treatment. The mean (SD) age of the 5 female patients presented in this case series was 35.2 (6.4) years. Of the 46 patients that stopped fingolimod treatment within the 2-year period, 5 (10.9%) experienced severe relapse 4 to 16 weeks after ceasing fingolimod treatment. Despite varying prior severity of relapsing-remitting course, all participants experienced unexpectedly severe clinical relapses accompanied by drastic

Ectopic adrenocorticotropic hormone syndrome in a case of duodenal neuroendocrine tumor presenting with liver metastasis

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J Khare

2018-01-01

Full Text Available Ectopic adrenocorticotropic hormone (ACTH syndrome is an uncommon disorder and comprises about 15% of all patients with Cushing's syndrome (CS. Duodenal carcinoids are rare, indolent tumors usually associated with a benign progression. We hereby report a rare case of CS resulting from ectopic ACTH secretion from a duodenal neuroendocrine tumor (NET presenting with liver metastasis. A 37-year-old female presented with abdominal discomfort and dyspepsia of 1-month duration. Ultrasound abdomen suggested a well-defined hypoechoic lesion in the left lobe of the liver, suggestive of neoplasia. On clinical examination, she had Cushingoid features and persistent hypokalemia. Midnight ACTH and cortisol levels were grossly elevated at 1027 pg/ml (n < 46 pg/ml and 87.56 μg/dl (n < 7.5 μg/ml, respectively. Both overnight and high-dose dexamethasone suppression test confirmed nonsuppressed cortisol levels - 86.04 and 84.42 μg/dl (n < 1.8 μg/ml, respectively. Magnetic resonance imaging brain showed a structurally normal pituitary gland. Computed tomography scan of the abdomen revealed hepatic lesion with bilateral adrenal enlargement. A diagnosis of ectopic ACTH-dependent CS was made. Intraoperatively, a duodenal lesion of 0.5 cm × 0.5 cm was identified alongside an 8 cm × 6 cm exophytic lesion in segment IV of the liver. Frozen section of the duodenal lesion was positive for NET. She underwent a Whipple's surgery, cholecystectomy, and left hepatic lobectomy. Postoperatively, she showed clinical and biochemical remission. Herewith, we report the third case of duodenal carcinoid tumor presenting as ectopic ACTH syndrome and the first with liver metastasis.

Advances in the medical management of the severe cutaneous radiation syndrome

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Carsin, H.; Stephannazi, J. [Percy Hospital, Clamart (France). Burn Treatment Centre; Gourmelon, P.

2000-05-01

The cutaneous radiation syndrome is a dose dependant complex pathological syndrome which follows a brief localized exposure and characterized by erythema, swelling, moist desquamation, ulceration and necrosis (25-30 Gy). Highly penetrating gamma radiation induces severe dose dependent lesions involving skin, subcutaneous tissue, muscle, vessels, nerves and occasionally, bony structures. The classical treatment of this syndrome includes the debridement of devitalized tissues, the application of bacteriostatic agents coated in non-adherent dressings, opiate-based drugs and in some cases the use of non-steroidal anti-inflammatory drugs. For ulceration and necrosis treatment, the classical surgery is ulcerectomy, necrectomy and amputation for the distal extremity injuries. For the profound et large necrosis, the lesion should be excised and the wound bed covered with a good quality, full-thickness skin graft. Unfortunately the delayed of appearance of this syndrome results often in non specialized medical treatment. Furthermore, because of the chronic evolution (months or years) the management of the cutaneous radiation syndrome has not been considered as a priority for the medical management. Recent accident like the Georgian accident demonstrated that new techniques such as artificial skin graft could change significantly patient prognosis. This technique is routinely used for thermal burn in specialized burn units. We realized the first application of this methodology in the field of radiopathology. An important factor of this technique is that in the case of recurrence of radionecrosis. Often observed, using this technique further grafting may be employed. However the success of this procedure depends on an effective control of the infection. These has sadly been illustrated in the last accident case in Peru where it was impossible to perform the artificial skin graft due to the persistence of a non-eradicated local infection. Whether this particular approach has a

Advances in the medical management of the severe cutaneous radiation syndrome

International Nuclear Information System (INIS)

Carsin, H.; Stephannazi, J.; Gourmelon, P.

2000-01-01

The cutaneous radiation syndrome is a dose dependant complex pathological syndrome which follows a brief localized exposure and characterized by erythema, swelling, moist desquamation, ulceration and necrosis (25-30 Gy). Highly penetrating gamma radiation induces severe dose dependent lesions involving skin, subcutaneous tissue, muscle, vessels, nerves and occasionally, bony structures. The classical treatment of this syndrome includes the debridement of devitalized tissues, the application of bacteriostatic agents coated in non-adherent dressings, opiate-based drugs and in some cases the use of non-steroidal anti-inflammatory drugs. For ulceration and necrosis treatment, the classical surgery is ulcerectomy, necrectomy and amputation for the distal extremity injuries. For the profound et large necrosis, the lesion should be excised and the wound bed covered with a good quality, full-thickness skin graft. Unfortunately the delayed of appearance of this syndrome results often in non specialized medical treatment. Furthermore, because of the chronic evolution (months or years) the management of the cutaneous radiation syndrome has not been considered as a priority for the medical management. Recent accident like the Georgian accident demonstrated that new techniques such as artificial skin graft could change significantly patient prognosis. This technique is routinely used for thermal burn in specialized burn units. We realized the first application of this methodology in the field of radiopathology. An important factor of this technique is that in the case of recurrence of radionecrosis. Often observed, using this technique further grafting may be employed. However the success of this procedure depends on an effective control of the infection. These has sadly been illustrated in the last accident case in Peru where it was impossible to perform the artificial skin graft due to the persistence of a non-eradicated local infection. Whether this particular approach has a

Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report

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De Salles Antonio AF

2011-09-01

Full Text Available Abstract Introduction Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the first to describe multiple cavernous malformations associated with Poland syndrome, further supporting the vascular etiology theory, but pointing to a genetic rather than a mechanistic factor disrupting blood flow in the corresponding vessels. Case presentation A 41-year-old Caucasian man with Poland syndrome on the right side of his body presented to our hospital with a secondary generalized seizure and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere. Conclusion The distribution of cavernous malformations in the left hemisphere and the right-sided Poland syndrome in our patient could not be explained by a mechanistic disruption of one of the subclavian arteries. A genetic alteration, as in familial cavernous malformations, would be a more appropriate etiologic diagnosis of Poland syndrome in our patient. Further genetic and pathological studies of the involved blood vessels in patients with Poland syndrome could lead to a better understanding of the disease.

Toe agnosia in Gerstmann syndrome

OpenAIRE

Tucha, O.; Steup, A.; Smely, C.; Lange, K.

1997-01-01

The following case report presents a patient exhibiting Gerstmann syndrome accompanied by toe agnosia. A 72 year old right handed woman had a focal lesion in the angular gyrus of the left hemisphere which was caused by a glioblastoma multiforme. The first symptom she had complained of was severe headache. Standardised neuropsychological tests of intelligence, memory, attention, fluency, apraxia, and language functions as well as tests for the assessment of agraphia, acalculia, right-...

Burning mouth syndrome: Present perspective

OpenAIRE

Ramesh Parajuli

2015-01-01

Introduction: Burning mouth syndrome is characterized by chronic oral pain or burning sensation affecting the oral mucosa in the absence of obvious visible mucosal lesions. Patient presenting with the burning mouth sensation or pain is frequently encountered in clinical practice which poses a challenge to the treating clinician. Its exact etiology remains unknown which probably has multifactorial origin. It often affects middle or old age women and it may be accompanied by xerostomia and alte...

Bilateral inverse Duane′s retraction syndrome-A case report

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Chatterjee Pranab

1991-01-01

Full Text Available Duane′s retraction syndrome is a well known congenital musculo-facial anomaly. Various explanations have been given for the aetiology of this syndrome. Inverse Duane′s retraction syndrome is a condition with reverse clinical features. Abduction of the affected eye is possible to some extent and is accompanied by retraction of the eyeball, narrowing of the palpebral fissure and pseudoptosis. There may be some restriction of movement on adduction. The primary lesion is suspected to be in the medial rectus muscle. Frequently the muscle is found to be entrapped following trauma to the medial wall of the orbit. A case of bilateral inverse Duane′s retraction syndrome and convergent squint along with left-sided perceptive deafness is reported. As is usually the case there was no structural abnormality or entrapment of the muscle from trauma.

Characterisation of prostate cancer lesions in heterozygous Men1 mutant mice

International Nuclear Information System (INIS)

Seigne, Christelle; Fontanière, Sandra; Carreira, Christine; Lu, Jieli; Tong, Wei-Ming; Fontanière, Bernard; Wang, Zhao-Qi; Zhang, Chang Xian; Frappart, Lucien

2010-01-01

Mutations of the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome. Our group and others have shown that Men1 disruption in mice recapitulates MEN1 pathology. Intriguingly, rare lesions in hormone-dependent tissues, such as prostate and mammary glands, were also observed in the Men1 mutant mice. To study the occurrence of prostate lesions, we followed a male mouse cohort of 47 Men1 +/- mice and 23 age-matched control littermates, starting at 18 months of age, and analysed the prostate glands from the cohort. Six Men1 +/- mice (12.8%) developed prostate cancer, including two adenocarcinomas and four in situ carcinomas, while none of the control mice developed cancerous lesions. The expression of menin encoded by the Men1 gene was found to be drastically reduced in all carcinomas, and partial LOH of the wild-type Men1 allele was detected in three of the five analysed lesions. Using immunostaining for the androgen receptor and p63, a basal epithelial cell marker, we demonstrated that the menin-negative prostate cancer cells did not display p63 expression and that the androgen receptor was expressed but more heterogeneous in these lesions. Furthermore, our data showed that the expression of the cyclin-dependent kinase inhibitor CDKN1B (p27), a Men1 target gene known to be inactivated during prostate cell tumorigenesis, was notably decreased in the prostate cancers that developed in the mutant mice. Our work suggests the possible involvement of Men1 inactivation in the tumorigenesis of the prostate gland

An Unexpected Innocent Complication Associated with Azacitidine Treatment of Myelodysplastic Syndrome: Erythema Annulare Centrifugum

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Esra Turan Erkek

2016-03-01

Full Text Available Skin lesions accompanying hematological malignancies can be formed due to either direct tumor infiltration of the skin or indirect effects. Indirectly developing lesions may be a component of paraneoplastic syndrome. Erythema annulare centrifugum (EAC is considered to be a hypersensitivity reaction developed against various antigens associated with infections, drugs, and endocrine diseases. EAC, rarely seen in neoplastic diseases, has been reported in lymphoma, leukemia, histiocytosis, and prostate cancer. Here we report EAC in a patient using a hypomethylating agent, azacitidine. A 69-year-old female patient was admitted to our polyclinic with weakness and ecchymosis in her legs existing for 3 months. She was considered as having refractory anemia with excess blasts-2 according to myelodysplastic syndrome (MDS classification [1]. Because there was only hyperdiploidy in conventional cytogenetic examination, she was classified in group intermediate-2 of the International Prognostic Scoring System. She had a history of radical mastectomy and adjuvant chemoradiotherapy for breast cancer 3 years ago. She said that variously sized round and oval erythematous, itching, painless lesions had formed in the abdominal region on the 4th day of azacitidine usage (75 mg/m2/day, 7 days, s.c. (Figure 1 and 2. There were no concomitant complaints or physical examination findings except fatigue. After azacitidine was stopped, a skin biopsy was taken. In the biopsy, mild perivascular inflammatory infiltration accompanying vascular ectasia in the papillary dermis was detected. The possibility of paraneoplastic syndrome was excluded due to the disappearance of all lesions by 1 week after cessation of treatment. During the second course of azacitidine, the lesions reoccurred on the second day. Subsequently to the second course, the patient died of sepsis, which developed after pneumonia.

Complex Regional Pain Syndrome (CRPS Type II After Carpal Tunnel Release Surgery: Case Report

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Hakan Tunç

2010-08-01

Full Text Available Summary Complex regional pain syndrome is a chronic syndrome characterised with dystrophic changes and neurovascular disordes of bone and skin of extremities. The most common etiological factors are trauma, ischemic heart disease, cerebral lesions, servical region disorders, infections, and surgical treatments. Carpal tunnel syndrome is the most common compressive neuropaty of the upper extremity. There are various surgical and conservative alternatives in the treatment of carpal tunnel syndrome. Complex regional pain syndrome has been reported as a complication of surgical carpal tunnel release in 2-5% of patients. In this case report clinical characteristics and rehabilitation outcomes of a patient with complex regional pain syndrome after carpal tunnel release surgery is presented. (Osteoporoz Dünyasından 2010;16:41-3

Nicolau Syndrome after Intramuscular Injection: 3 Cases

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Seok-Kwun Kim

2012-05-01

Full Text Available Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemic necrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristic pattern is pain around the injection site, developing into erythema, a livedoid dermatitis patch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients were injected with drugs (diclofenac sodium, ketoprofen, meperidine for pain relief. Three patients complained of pain, and a skin lesion was observed, after which necrosis developed on their buttocks. Each patient underwent debridement and coverage. The wound healed uneventfully. We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscular injection.

Selenium-75-cholesterol imaging and computed tomography of the adrenal glands in differentiating the cause of Cushing's syndrome

International Nuclear Information System (INIS)

Miller, J.L.; Smith, J.A.; Mervis, B.; Roman, T.

1983-01-01

Measurement of 75 Se-cholesterol (Scintadren) uptake and computed tomography (CT) of the adrenal glands were compared as a means of differentiating the cause of Cushing's syndrome in 11 patients over a 2-year period. Quantitative Scintadren imaging differentiated adrenocorticotrophic hormone (ACTH)-dependent disease from local adrenocortical lesions as the cause of Cushing's syndrome in all the patients studied. CT of the adrenal glands rapidly and accurately detected the adrenal mass lesions in 2 cases and was effective in documenting bilateral hyperplasia due to ectopic ACTH-dependent disease. However, in entopic ACTH (pituitary)-dependent disease the adrenal glands were of normal thickness in all but 2 patients, who had bilateral hyperplasia. Scintadren imaging and CT are useful non-invasive procedures for differentiating local adrenal disease from ACTH-dependent disease as the cause of Cushing's syndrome and should be the initial investigations once a firm clinical and biochemical diagnosis of Cushing's syndrome has been made

Pattern of steroid-resistant nephrotic syndrome in children and the ...

African Journals Online (AJOL)

Background. Steroid-resistant nephrotic syndrome (SRNS) is a common problem in paediatric nephrology practice. There is currently little information on the spectrum of histopathological lesions in children presenting with SRNS in India and other south-east Asian countries. Objective. To determine the histopathological ...

Aortopathies in Turner syndrome -- new strategies for evaluation and treatment.

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Kriksciuniene, Ruta; Ostrauskas, Rytas; Zilaitiene, Birute

2015-01-01

Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta.Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed.

Partial subclavian steal syndrome in a congenitally anomalous subclavian artery

International Nuclear Information System (INIS)

Krnic, A.; Sucic, Z.; Vucic, N.; Krolo, I.

2006-01-01

Background. A subclavian steal syndrome results from the abnormal flow of blood due to the occlusion in the subclavian artery proximal to the origin of the vertebral artery. A case of a male patient with a partial subclavian steal syndrome is presented. Case report. The syndrome was caused by a stenotic lesion of an aberrant right subclavian artery (the so called lusorian artery). The partial subclavian steal was recognized using the duplex ultrasound which showed the to and fro pattern in the right vertebral artery. Angiography of the aortic arch revealed the arterial anomaly. In our case, duplex ultrasound was a crucial method in diagnosing the partial subclavian steal syndrome. However, in order to show the arterial anomaly, the final evaluation had to be performed using arteriography. Conclusions. The early recognized partial subclavian steal syndrome provides good understanding of patient's symptoms, successful follow up, and a variety of treatment options. (author)

Bladder pain syndrome/interstitial cystitis as a functional somatic syndrome.

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Warren, John W

2014-12-01

To determine whether bladder pain syndrome/interstitial cystitis (BPS/IC) has the characteristics of a functional somatic syndrome (FSS). There is no accepted definition of an FSS. Consequently, this paper reviewed the literature for common FSS characteristics and for reports that BPS/IC has these characteristics. Eleven articles met inclusion and exclusion criteria and yielded 18 FSS characteristics. BPS/IC patients manifest all but two: the exceptions were normal light microscopic anatomy (after hydrodistention under anesthesia, some BPS/IC bladders have Hunner's lesions and most have petechial hemorrhages) and normal laboratory tests (many BPS/IC patients have hematuria). Petechial hemorrhages and hematuria are probably related and may appear during naturally-occurring bladder distention. Without such distention, then, the 90% of BPS/IC patients without a Hunner's lesion have all the characteristics of an FSS. Comparisons in the opposite direction were consistent: several additional features of BPS/IC were found in FSSs. This systematic but untested method is consistent with but does not test the hypothesis that BPS/IC in some patients might best be understood as an FSS. Like most conditions, BPS/IC is probably heterogeneous; hence only a proportion of BPS/IC cases are likely to be manifestations of an FSS. This hypothesis has several implications. Explorations of processes that connect the FSSs might contribute to understanding the pathogenesis of BPS/IC. Patients with FSSs are at risk for BPS/IC and may benefit from future preventive strategies. Therapies that are useful in FSSs also may be useful in some cases of BPS/IC. Copyright © 2014 Elsevier Inc. All rights reserved.

A Case of Erythema Annulare Centrifigum with Sjögren Syndrome

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İlgen Ertam

2010-03-01

Full Text Available Erythema annulare centrifigum is a dermatose which is frequently seen in adults. It is characterized by erythematous lesions which spread asymmetrically to periphery and have a collarette desquamation. Although infection, tumor, food allergy, drug reaction can play a role in the aetiology, most of the cases are idiopathic. A forty-nine years old, female patient presented to our clinic with erythematous lesions on both of her lower extremities. Six weeks prior to her referral, she treated with quinine for Sjogren syndrome. She had a diagnosis of granuloma annulare in her personal history. There was no significance in her family history. In dermatologic examination; annular erythematous plaques and collarette desquamation were detected on lower extremities. Histopathologic examination of the lesional biopsy specimen revealed focal spongiosis in the epidermis, dermal oedema, vascular proliferation and perivascular infiltration of lymphocytes, eosinophils and histiocytes. In the laboratory examination; blood count, liver and kidney function tests, sedimentation, C-reactive protein was normal. Rheumatoid factor was 30. Antinuclear antibody was 1/640 granular pattern. A case of erythema annulare centrifigum with Sjögren Syndrome is discussed with the other skin findings of the disease.

Non-syndromic multiple impacted supernumerary teeth with peripheral giant cell granuloma

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Pankaj Bansal

2011-01-01

Full Text Available Peripheral giant cell granuloma (PGCG is a relatively frequent benign reactive lesion of the gingiva, originating from the periosteum or periodontal membrane following local irritation or chronic trauma. PGCG manifests as a red-purple nodule located in the region of the gingiva or edentulous alveolar margins. The lesion can develop at any age, although it is more common between the second and third decades of life, and shows a slight female predilection. PGCG is a soft tissue lesion that very rarely affects the underlying bone, although the latter may suffer superficial erosion. A supernumerary tooth is one that is additional to the normal series and can be found in almost any region of the dental arch. These teeth may be single, multiple, erupted or unerupted and may or may not be associated with syndrome. Usually, they cause one or the other problem in eruption or alignment of teeth, but may also present without disturbing the normal occlusion or eruption pattern. Management of these teeth depends on the symptoms. Presented here is a case of PGCG in relation to the lower left permanent first molar with three supernumerary teeth in the mandibular arch but no associated syndrome.

Numb chin syndrome as a manifestation of possible breast cancer metastasis around dental implants.

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Orhan, Kaan; Bayndr, Hakan; Aksoy, Seçil; Seker, Basak Kusakci; Berberoğlu, Atilla; Ozan, Oğuz

2011-05-01

Numb chin syndrome, sometimes called numb lip syndrome, is an uncommon but well-recognized symptom in medical oncology. It may be a metastatic neurologic manifestation of malignancy, often with no clinically visible pathologic finding. The authors report a numb chin syndrome as a manifestation possible breast cancer metastasis around dental implants in a 69-year-old woman. The patient was presented with complaint of numbness in the lower jaw. Medical anamnesis revealed a metastatic breast carcinoma (CA). Radiographic imaging with conventional panoramic radiography and cone beam computed tomographic examination, revealed a moth-eaten shape, radiolucent, and radiopaque mixed appearance around the dental implants that was related with possible metastasis of the breast cancer. Numb chin syndrome is almost unknown within the dental and oral and maxillofacial community, despite being well reported in the medical literature. General dentists, oral medicine specialists, and oral and maxillofacial surgeons must be aware of this condition to consider metastatic cancer in patients with unexplained facial hypoesthesia. Moreover, although the development of metastatic lesions around implants is an uncommon pathologic finding, the examination of peri-implant lesion should be performed carefully considering the entire pathologic situations.

[Drug rash with eosinophilia and systemic symptoms syndrome induced by carbamazepine: Case report].

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Marín, Jorge Alonso; Ortega, Mayra Alexandra; Sánchez, Isaura Pilar; Pacheco, José Armando

2017-06-01

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a hypersensitivity reaction associated with a variety of drugs, mainly anticonvulsants, which is characterized by systemic symptoms and erythematous lesions, common to other toxicodermas. It is an uncommon clinical entity that requires a high suspicion by clinical staff given its varied initial presentation, and the fact that symptoms can overlap with those of other adverse cutaneous reactions to drugs. Without early diagnosis and appropriate treatment, mortality increases.We report the case of a 22-year-old patient with impaired neurodevelopment who received treatment with carbamazepine. Two months later he presented with general symptoms and skin erythematous lesions that began on his trunk. The patient received outpatient care with antihistamines and antipyretics without an appropriate response. His case progressed with increased skin lesions and systemic symptoms that met the diagnostic criteria for DRESS syndrome. He was hospitalized and received medical treatment according to recommended guidelines. The patient's condition improved as his symptoms and associated complications resolved. He was discharged with gradual clearing of the steroid therapy.

Size of the Lesions of Superficial Punctate Keratitis in Dry Eye Syndrome Observed With a Slit Lamp.

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Courrier, Emilie; Lépine, Thierry; Hor, Guillaume; Fournier, Corinne; He, Zhiguo; Chikh, Mehdi; Urrea, Caroline; Al Anazi, Fahran-Falgi; Thuret, Gilles; Gain, Philippe

2016-07-01

To evaluate the size distribution of epithelial lesions of superficial punctate keratitis (SPK) in dry eye after staining of the ocular surface by sodium fluorescein. Fluorescein was instilled in 10 patients with dry eye graded using the Oxford Scheme. Pictures were taken using a standard Topcon slit lamp with cobalt blue light, without barrier filter. Two magnifications (×10 and ×16) were used and calibrated using a certified standard reference grating, allowing the diameter of the observed objects to be determined with ImageJ software. The most visible and isolated SPK lesions (green dots) were selected. The size of 254 SPK lesions was measured by tracing the irradiance profile and manually measuring the full width at half maximum. For all patients, with the 2 magnifications combined, the median diameter was 20.9 μm (15.2-26.6 μm, 10-90 percentile). There was a significant difference between the size of SPK lesions measured with ×10 and ×16 magnifications, respectively, 24.3 μm (18.2-29.8) versus 19.0 μm (15.2-26.6) (P < 0.001). Lesions seem to be smaller than normal superficial epithelial cells (which are approximately 25 × 50 μm) and might correspond to the staining of dying shrunken cells, according to recent investigations. These new quantitative data will help in developing automated recognition algorithms to obtain reliable objective classification of corneal staining.

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes—MELAS Syndrome

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Henry, Caitlin; Patel, Neema; Shaffer, William; Murphy, Lillian; Park, Joe

2017-01-01

Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. Case Report: We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years. We discuss the imaging features distinctive to the case, the mechanism of the disease, typical presentation, imaging diagnosis, and disease management. Conclusion: This case is a classic example of the relapse-remitting MELAS syndrome progression with episodic clinical flares and fluctuating patterns of stroke-like lesions on imaging. MELAS is an important diagnostic consideration when neuroimaging reveals a pattern of disappearing and relapsing cortical brain lesions that may occur in different areas of the brain and are not necessarily limited to discrete vascular territories. Future studies should investigate disease mechanisms at the cellular level and the value of advanced magnetic resonance imaging techniques for a targeted approach to therapy. PMID:29026367

Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

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Yeliz Bilir

2014-01-01

Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts, the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

Jaw cyst-Basal cell nevus-Bifid rib syndrome: A case report

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Rai S

2007-09-01

Full Text Available Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideration while explaining the prognosis to the patient. A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.

Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome.

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Rao, Srinivas K; Fan, Dorothy S P; Pang, C P; Li, Winnie W Y; Ng, Joan S K; Good, William V; Lam, Dennis S C

2002-01-01

To report the unusual association of bilateral corneal keloids and anterior segment mesenchymal dysgenesis in a child with Rubinstein-Taybi syndrome. Case report of a 2-year-old boy. Excision of the epicorneal mass in the right eye was followed by recurrence of the lesion. Multiple penetrating keratoplasties were unsuccessful in reconstructing the anterior segment because of recurrent corneal epithelial breakdown, suggesting limbal stem cell insufficiency. Histopathology and electron microscopy of the excised mass lesion showed features typical of a corneal keloid: thickened keratinized epithelium, absent Bowman's layer, and fibrovascular hyperplasia, with haphazard orientation of the collagen lamellae. Ultrasound biomicroscopy and intraoperative findings suggested a diagnosis of Peter anomaly, but genetic analysis did not show a PAX6 mutation. The findings in our patient add to the spectrum of ocular changes described in Rubinstein-Taybi syndrome and confirm earlier reports of poor ocular prognosis in corneal keloids and Rubinstein-Taybi syndrome.

Bilateral symmetrical adrenal hypermetabolism on FDG PET/CT due to Cushing syndrome in well differentiated neuroendocrine carcinoma.

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Aktas, G E; Soyluoglu Demir, S; Sarikaya, A

2016-01-01

The (18)F-FDG PET/CT scan has been suggested for whole-body imaging to identify ectopic adrenocorticotrophic hormone secreting tumours, but there are some challenges involved. The case of a patient is presented, who was admitted with the pre-diagnosis of ectopic ACTH syndrome. On the CT, a nodular lesion was detected in the medial segment of the right lung. The FDG uptake of the lesion seemed to be increased visually, but was not pathological quantitatively (SUVmax: 1.8) on the PET/CT. There was also diffuse increased uptake (SUVmax: 14.2) in the enlarged adrenal glands. The lesion was reported as a possible malignant lesion with low FDG affinity, such as a low grade neuroendocrine tumour, while the diffuse enlarged adrenal glands with high uptake were interpreted as diffusely hyperplasic, due to Cushing's syndrome. The patient was treated with a surgical wedge resection. The histopathological diagnosis confirmed that the tumour was a grade 1 well-differentiated neuroendocrine carcinoma. Copyright © 2015 Elsevier España, S.L.U. and SEMNIM. All rights reserved.

Brooke-Spiegler syndrome

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Layegh Pouran

2008-01-01

Full Text Available The Brooke-Spiegler syndrome (BSS is an uncommon autosomal dominant disorder characterized by a high affinity to form multiple adnexal neoplasia (skin appendage tumors, especially trichoepitheliomas and cylindromas, and occasionally spiradenomas, which usually appear in the second or third decade of life. To date, only a few cases with this syndrome have been reported. This case report describes a 26-year-old woman who presented to the dermatology department of Qaem Hospital with tumoral lesions on her scalp, face, and forearm. Her father and younger brother were also affected. On examination, several round-to-oval skin-colored papules with a smooth pearly surface measuring 2 to 6 mm in diameter were seen on the mid-face, particularly in the nasolabial folds, the upper lip. Tumors and nodules seen on the scalp were pinkish red, dome-shaped, and to some extent, pedunculated with surface telangiectasia and induration. Histopathology of the facial papules showed trichoepithelioma while that of a scalp nodule showed cylindroma.