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  1. Identification of the DNA repair defects in a case of Dubowitz syndrome.

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    Jingyin Yue

    Full Text Available Dubowitz Syndrome is an autosomal recessive disorder with a unique set of clinical features including microcephaly and susceptibility to tumor formation. Although more than 140 cases of Dubowitz syndrome have been reported since 1965, the genetic defects of this disease has not been identified. In this study, we systematically analyzed the DNA damage response and repair capability of fibroblasts established from a Dubowitz Syndrome patient. Dubowitz syndrome fibroblasts are hypersensitive to ionizing radiation, bleomycin, and doxorubicin. However, they have relatively normal sensitivities to mitomycin-C, cisplatin, and camptothecin. Dubowitz syndrome fibroblasts also have normal DNA damage signaling and cell cycle checkpoint activations after DNA damage. These data implicate a defect in repair of DNA double strand break (DSB likely due to defective non-homologous end joining (NHEJ. We further sequenced several genes involved in NHEJ, and identified a pair of novel compound mutations in the DNA Ligase IV gene. Furthermore, expression of wild type DNA ligase IV completely complement the DNA repair defects in Dubowitz syndrome fibroblasts, suggesting that the DNA ligase IV mutation is solely responsible for the DNA repair defects. These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations.

  2. Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report

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    Tullo Domenica

    2011-01-01

    Full Text Available Abstract Introduction Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds. Case presentation We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome. Conclusion Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.

  3. Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

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    Douglas R Stewart

    Full Text Available Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect, and an increased risk of blood dyscrasia and malignancy. There is considerable phenotypic variability, suggesting genetic heterogeneity. We clinically characterized and performed exome sequencing and high-density array SNP genotyping on three individuals with Dubowitz syndrome, including a pair of previously-described siblings (Patients 1 and 2, brother and sister and an unpublished patient (Patient 3. Given the siblings' history of bone marrow abnormalities, we also evaluated telomere length and performed radiosensitivity assays. In the siblings, exome sequencing identified compound heterozygosity for a known rare nonsense substitution in the nuclear ligase gene LIG4 (rs104894419, NM_002312.3:c.2440C>T that predicts p.Arg814X (MAF:0.0002 and an NM_002312.3:c.613delT variant that predicts a p.Ser205Leufs*29 frameshift. The frameshift mutation has not been reported in 1000 Genomes, ESP, or ClinSeq. These LIG4 mutations were previously reported in the sibling sister; her brother had not been previously tested. Western blotting showed an absence of a ligase IV band in both siblings. In the third patient, array SNP genotyping revealed a de novo ∼ 3.89 Mb interstitial deletion at chromosome 17q24.2 (chr 17:62,068,463-65,963,102, hg18, which spanned the known Carney complex gene PRKAR1A. In all three patients, a median lymphocyte telomere length of ≤ 1st centile was observed and radiosensitivity assays showed increased sensitivity to ionizing radiation. Our work suggests that, in addition to dyskeratosis congenita, LIG4 and 17q24.2 syndromes also feature shortened telomeres; to confirm this, telomere length testing should be considered in both disorders. Taken together, our work and other reports on Dubowitz syndrome, as currently recognized, suggest that it is not a unitary entity but instead a collection of

  4. Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome.

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    Darcy, Diana C; Rosenthal, Scott; Wallerstein, Robert J

    2011-01-01

    We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH). Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice. This syndrome is thought to be autosomal recessive; however, the etiology has not been determined. This is the first report of this deletion in association with this phenotype; it is possible that this deletion may be causal for a Dubowitz phenocopy.

  5. Chromosome Deletion of 14q32.33 Detected by Array Comparative Genomic Hybridization in a Patient with Features of Dubowitz Syndrome

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    Diana C. Darcy

    2011-01-01

    Full Text Available We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH. Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice. This syndrome is thought to be autosomal recessive; however, the etiology has not been determined. This is the first report of this deletion in association with this phenotype; it is possible that this deletion may be causal for a Dubowitz phenocopy.

  6. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

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    Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

    2014-09-01

    To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm. In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.

  7. The Dubowitz Neurological Examination of the Full-Term Newborn

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    Dubowitz, Lilly; Ricciw, Daniela; Mercuri, Eugenio

    2005-01-01

    In an ideal world, each neonate should have a comprehensive neurological examination but in practice this is often difficult. In this review we will describe what a routine neurological evaluation in the full-term neonate should consist of and how the Dubowitz examination is performed. The examination has been used for over 20 years and can be…

  8. Avaliação neurológica pelo método Dubowitz em recém-nascidos prematuros com idade corrigida de termo comparada a de nascidos a termo Neonatal neurological assessment by the Dubowitz method in preterm infants at term corrected age compared with term infants

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    Marina Ortega Golin

    2009-12-01

    Full Text Available OBJETIVO: Comparar a avaliação neurológica de recém-nascidos pré-termo em idade de termo com a de recém-nascidos a termo e verificar a presença de associação entre alterações na avaliação neurológica e características e intercorrências clínicas nos prematuros. MÉTODO: Estudo transversal de 60 nascidos a termo e 30 prematuros do Hospital Estadual Mário Covas, em Santo André (SP, avaliados pelo método Dubowitz. Os pontos de corte da pontuação total foram 30,5 e 26 para comparar recém-nascidos pré-termo e a termo, respectivamente. Os prematuros foram avaliados com idade correspondente ao termo, na 37ª semana, e os do grupo controle, 48 horas após o nascimento. Todos os neonatos foram avaliados pela mesma examinadora, entre as mamadas, nos estágios 4 e 5 de sono e vigília. Para análise estatística, utilizaram-se testes de associação. RESULTADOS: 90% dos nascidos pré-termo não atingiram a pontuação esperada para a idade de termo (pOBJECTIVE: To compare neonatal neurological assessment of preterm newborn infants at term corrected age with term infants, and to identify the presence of association between neurologic abnormalities in preterm infants and demographic characteristics and neonatal clinical conditions. METHODS: This cross-sectional study enrolled 60 term and 30 preterm infants born at the Mario Covas State Hospital in Santo André, São Paulo, Brazil. The Dubowitz method was applied to assess neurobehavior. The total score cut-offs of 30.5 and 26 were used to compare respectively preterm and term infants and to analyze the variables related to performance in the preterm group. Preterm newborns were evaluated at 37 post-conceptual weeks and the control group was evaluated 48 hours after birth. All newborns were evaluated by the same neurologist, between feedings and at sleep-awake stages 4 or 5. Statistical analysis was performed by association tests. RESULTS: 90% of the preterm infants did not reach the

  9. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

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    Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M

    2017-04-01

    Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

  10. Orofacial syndromes: A review

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    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  11. [Refeeding syndrome. A review].

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    Temprano Ferreras, J L; Bretón Lesmes, I; de la Cuerda Compés, C; Camblor Alvarez, M; Zugasti Murillo, A; García Peris, P

    2005-02-01

    Refeeding syndrome is a complex clinical picture that encompass all those alterations that can occur as a consequence of the nutritional support (oral, enteral or parenteral) in malnourished patients. Refeeding syndrome is classically characterized by neurological alterations, respiratory symptoms, cardiac arrhythmias and heart failure few days after beginning of refeeding, with life-threatening outcome. Its pathogenesis includes alterations in the corporal fluids, and in some electrolytes, minerals and vitamins. In this article a review of refeeding syndrome pathogenesis and clinical manifestations is carried out, with a final series of recommendations for lowering the risk of this syndrome and for facilitate the early diagnosis and the treatment.

  12. PIRIFORMIS SYNDROME: A REVIEW

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    Subhasis Ranjan

    2014-04-01

    Full Text Available Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. The diagnosis of piriformis syndrome is made by clinical features, electromyography and nerve conduction velocity, computed tomography, magnetic resonance imaging and bone scan. Management of piriformis syndrome includes nonsurgical and surgical interventions. Non-surgical management includes- nonsteroidal anti-inflammatory drugs, physical therapy, ultrasound, correction of biomechanical abnormality, lifestyle modifications, local anesthetic and/or steroid injection into the piriformis muscle. Surgical management includes-surgical release of piriformis muscle and decompression of the sciatic nerve. Piriformis Syndrome- a review.

  13. [A girl with Angelman syndrome].

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    Cobben, Jan Maarten; van Hal, Arjen; van den Puttelaar-van Hal, Nora; van Dijk, Fleur S

    2014-01-01

    Angelman syndrome is a genetic syndrome with a prevalence of 1 in 20,000. The combination of behaviour and phenotype makes this syndrome one of the easiest genetic syndromes to recognise. Here we describe the case of Femke, a 3-year-old girl with Angelman syndrome. The phenotype is described from a medical perspective as well from the perspective of the parents. Any physician might encounter a child or adult with a rare syndrome. It is difficult to determine what these kinds of syndrome entail based on tables or numbers alone. Descriptions of individual cases are therefore of utmost importance. Furthermore, it is important to recognise that, despite their possible considerable mental disabilities, people with genetic syndromes are just like any other human and should not be seen as just someone with a syndrome.

  14. Refeeding syndrome: a clinical review.

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    Ormerod, Clare; Farrer, Kirstine; Harper, Lindsay; Lal, Simon

    2010-12-01

    Refeeding syndrome can result in a wide variety of complications and may be life threatening. Although well described in hospital practice, refeeding syndrome is often under-recognized and inadequately treated.

  15. Cardiofaciocutaneous syndrome: A rare entity

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    S Pavithra

    2012-01-01

    Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

  16. A Journey with Klinefelter Syndrome

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    Cover, Virginia Isaacs

    2006-01-01

    In this article, the author shares her experience having a son with Klinefelter Syndrome. Klinefelter Syndrome, also known as 47,XXY, is estimated to occur in 1 out of 600 males, making it the most common chromosomal disorder. Babies with Klinefelter Syndrome rarely have any physical differences that are detectable, which is the reason that so few…

  17. Down syndrome: a cardiovascular perspective

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    J.C. Vis; M.G.J. Duffels; M.M. Winter; M.E. Weijerman; J.M. Cobben; S.A. Huisman; B.J.M. Mulder

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart

  18. Down Syndrome: A Cardiovascular Perspective

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    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  19. Down Syndrome: A Cardiovascular Perspective

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    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  20. Enamel renal syndrome: A rare case report

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    S V Kala Vani

    2012-01-01

    Full Text Available Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky-MacGibbon syndrome. It is characterized by enamel agenesis and medullary nephrocalcinosis. This paper describes enamel renal syndrome in a female patient born in a consanguineous family.

  1. Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

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    Bechtold Astrid

    2007-01-01

    Full Text Available Abstract Background DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene (LIG4. The clinical phenotype shows overlap with a number of other rare syndromes, including Seckel syndrome, Nijmegen breakage syndrome, and Fanconi anemia. Thus the clinical diagnosis is often delayed and established by exclusion. Methods We describe a patient with pre- and postnatal growth retardation and dysmorphic facial features in whom the diagnoses of Seckel-, Dubowitz-, and Nijmegen breakage syndrome were variably considered. Cellular radiosensitivity in the absence of clinical manifestations of Ataxia telangiectasia lead to the diagnosis of DNA ligase IV (LIG4 deficiency syndrome, confirmed by compound heterozygous mutations in the LIG4 gene. At age 11, after a six year history of progressive bone marrow failure and increasing transfusion dependency the patient was treated with matched sibling donor hematopoetic stem cell transplantation (HSCT using a fludarabine-based conditioning regimen without irradiation. Results The post-transplantation course was uneventful with rapid engraftment leading to complete and stable chimerism. Now at age 16, the patient has gained weight and is in good clinical condition. Conclusion HSCT using mild conditioning without irradiation qualifies as treatment of choice in LIG4-deficient patients who have a matched sibling donor.

  2. Lehman syndrome: a new syndrome for pierre robin sequence.

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    Correia-Sá, Inês; Horta, Ricardo; Neto, Tiago; Amarante, José; Marques, Marisa

    2015-05-01

    Lehman syndrome, or lateral meningocele syndrome, is characterized by facial dysmorphism, multiple lateral meningoceles, and skeletal abnormalities. Only nine cases have been described. We present a case of a 2-year-old boy presenting with micrognathia, glossoptosis, and hypertelorism as well as associated severe obstructive sleep apnea. He was submitted to bilateral mandibular distraction with external nonresorbable devices to correct Pierre Robin sequence (PRS). Later, multiple lateral meningoceles were identified, and a diagnosis of Lehman syndrome was made. Lehman syndrome must be considered in syndromic infants with PRS. Distraction osteogenesis is a safe procedure that is effective as a first choice in the treatment of patients with Lehman syndrome presenting with micrognathia.

  3. PIRIFORMIS SYNDROME: A REVIEW

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    Subhasis Ranjan; Souvik; Alok Sovon; Arijit; Rajib; Amit Kumar

    2014-01-01

    Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. ...

  4. Sheehan's syndrome: a case report

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    Shazia Ashraf Khan

    2016-09-01

    Full Text Available Sheehans syndrome or necrosis of pituitary gland is a rare complication of postpartum haemorrhage, initially described in 1937. Sheehans syndrome though rare is still one of the commonest causes of hypopituitarism in developing countries like ours. We present a case of young lady with this syndrome who presented with classical symptoms of hypopituitarism within 1 year of her delivery which was complicated by postpartum haemorrhage. [Int J Reprod Contracept Obstet Gynecol 2016; 5(9.000: 3221-3222

  5. Waardenburg Syndrome: A Case Report

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    Hayrullah Alp

    2010-12-01

    Full Text Available Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in each of which the genetic and clinical findings are different. Case Report: In this article, a-3-year old boy with Waardenburg syndrome Type 1 was described. Also, in some of the family members the same disease was diagnosed. Conclusion: Waardenburg syndrome should be evaluated in the patients with congenital sensorineural hearing loss accompanied with the clinical findings. (Journal of Current Pediatrics 2010; 8: 123-6

  6. Gorlin syndrome: A case report

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    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  7. Joubert Syndrome: A Case Report

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    Mürüvet Akın

    2012-10-01

    Full Text Available Joubert Syndrome is a rare autosomal recessive disorder characterized with hypotonia, ataxia, mental and motor retardation, episodic tachypnea-apnea and oculomotor anomalies. Prognosis is poor in patients with hypotonia and severe growth retardation. Its characteristic imaging finding is hypoplasia of cerebellar vermis and ‘molar tooth sign’ in brainstem. Dandy-Walker formation and Down Syndrome take part in differential diagnosis. Clinical findings of Joubert Syndrome are quite heterogenous. Thus determination of radiological findings is essential. In this paper, a case who applied to our clinic with complaint of headache and who had mild mental-motor retardation and diagnosed as Joubert Syndrome radiologically was presented.

  8. West syndrome in a patient with Schinzel-Giedion syndrome.

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    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed.

  9. Gorlin syndrome: A case report

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    Abbas Darjani

    2016-01-01

    Full Text Available Gorlin syndrome is a rare autosomal dominant disorder which characterize by multi-organ abnormities such as odontogenic keratocysts in the jaw, skeletal abnormities and multiple basal cell carcinoma etc. We report a case of this syndrome in a young man with palmar pits, multiple facial BCC, clacifications of the falx cerebri and bifid rib.

  10. Eagle syndrome. A narrative review

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    Heber Arbildo

    2016-09-01

    Full Text Available Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid process and ligament stylohyoid calcification. The condition is accompanied by symptoms such as dysphonia, dysphagia, sore throat, glossitis, earache, tonsillitis, facial pain, headache, pain in the temporomandibular joint and inability to perform lateral movements of the neck. Diagnosis and treatment of Eagle syndrome based on symptoms and radiographic examination of the patient will determine the need for surgical or nonsurgical treatment. Eagle syndrome is a complex disorder demanding a thorough knowledge of its signs and symptoms to make a correct diagnosis and provide an appropriate subsequent treatment. Disseminating information about this syndrome among medical-dental professionals is essential to provide adequate dental care to patients.

  11. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

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    Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patıroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet

    2016-01-01

    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID:27612988

  12. Carpenter syndrome: a case report.

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    Begum, S; Khatun, N; Rayhan, S M; Rahman, S A

    2012-07-01

    Carpenter syndrome is a rare hereditary disorder known as Acrocephalopolysyndyctyly (ACPS) type II characterized by acrocephaly, facial dysmorphism, brachedyctyly, syndyctyly, preaxial polydyctyly, obesity, congenital heart disease, cryptorchidism, hypogenitalism, bony abnormalities and umbilical hernia. Carpenter syndrome is autosomal recessive disorder and prenatal diagnosis of this syndrome is possible by ultrasonogram during pregnancy. We reported a case of carpenter syndrome of 2.5 months old female infant of consanguineous parents who was admitted in the paediatric ward of Bangabandhu Sheikh Mujib Medical University (BSMMU) on 30th March 2010. She was diagnosed as a case of Carpenter syndrome having acrocephaly prominent ridge of sagital suture, polydactyly, syndyctyly on history, clinical examination findings and investigation reports.

  13. PIRIFORMIS SYNDROME: A CLINICAL REVIEW

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    Samarjit

    2013-04-01

    Full Text Available ABSTRACT: Piriformis Syndrome is a cause for Low back pain whi ch is most of the times misdiagnosed as it may mimic with various other con ditions. Abnormal condition of the Piriformis muscle such as hypertrophy, inflammation, or anatomic variations may lead to this condition. Reported incidence rates for Piriformis S yndrome among patients with low back pain vary widely, from 5% to 36%. Etiology of Piriformis Syndrome is also variable. It can be primary due to anatomical problems or secondary due to vario us other causes like trauma, local ischemia, limb-length discrepancy etc. Diagnosis of Piriformis Syndrome is complex. History with various clinical tests along with MRI, EMG (El ectromyography and Diagnostic blocks may help to diagnose this condition. Here is a review of Piriformis syndrome for better understanding of the problem so that the diagnosis a nd management are appropriate. KEY WORDS:Piriformis Syndrome.

  14. Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome.

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    Mull, Jamie L; Madden, Lisa M; Bayliss, Susan J

    2016-07-01

    We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear.

  15. Shaken Baby Syndrome: a review.

    Science.gov (United States)

    Mian, Maha; Shah, Janki; Dalpiaz, Amanda; Schwamb, Richard; Miao, Yimei; Warren, Kelly; Khan, Sardar

    2015-06-01

    Shaken Baby Syndrome occurs in infants as a result of the brain pushing against the skull due to severe acceleration-deceleration forces. Symptoms of Shaken Baby Syndrome include subdural, subarachnoid, and retinal hemorrhages. MRI and ocular examinations are used to determine the extent of mental and visual damage and β-amyloid precursor protein immunohistochemical staining is used to detect axonal injuries. Surgeries such as Subdural hemorrhage (SDH) evacuation surgery and the Burr hole craniotomy are used to treat Shaken Baby Syndrome; however, the prognosis is poor in many cases. Because of the severity of Shaken Baby Syndrome and its traumatic and sometimes fatal effects, it is important to educate new parents, nurses, and doctors on the syndrome in order to prevent incidents.

  16. A lethal syndrome resembling branchio-oculo-facial syndrome.

    Science.gov (United States)

    Hing, A V; Torack, R; Dowton, S B

    1992-02-01

    Branchio-oculo-facial syndrome, a recently delineated autosomal dominant condition, is characterized by branchial cleft sinuses, ocular anomalies, and unusual facial appearance. A patient with branchial cleft fistulae, microphthalmia, nasomaxillary dysplasia, in addition to cardiac and CNS malformation (holoprosencephaly and meningo-encephalocele), is described. Although many features of this lethal malformation complex resemble those seen in the branchio-oculo-facial syndrome, the complex may represent a new multiple malformation syndrome.

  17. Joubert Syndrome, A Ciliopathy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-10-01

    Full Text Available Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.

  18. Hemophagocytic Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Derya Ozturk

    2014-12-01

    Full Text Available Hemophagocytic syndrome, a serious clinical condition accompanying systemic inflammatory disorders, is characterized by massive hypercytokinemia as a result of excessive activation and proliferation of T-lymphocytes and macrophages. This article aims to remind clinicians of the hemophagocytic syndrome in the differential diagnosis of patients with fever, pancytopenia, and hepatosplenomegaly. This condition can be highly fatal despite the administration of appropriate therapy. Early diagnosis of hemophagocytic syndrome is of utmost importance, as a delay in diagnosis significantly worsens the prognosis, and treatment should be tailored to the underlying pathology.

  19. Kounis syndrome: a narrative review

    African Journals Online (AJOL)

    underlying state of the coronaries and presence of a drug-eluting stent or not. This review ... pathophysiology, diagnoses and treatment of this important syndrome. Keywords: ... caused by a triggered release of mast cell derived mediators into.

  20. Klinefelter's syndrome and Prader-Willi syndrome: a rare combination.

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Vries, B.B. van; Duffels, S.J.H.; Egger, J.I.M.; Noordam, C.; Tuinier, S.

    2007-01-01

    In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS phenotype

  1. Heterotaxy syndrome: a case report

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    Daniel de Souza Carneiro

    2013-06-01

    Full Text Available The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient.

  2. Syndromic surveillance: A local perspective

    OpenAIRE

    2003-01-01

    The promise of syndromic surveillance extends beyond early warning for bioterrorist attacks. Even if bioterrorism is first detected by an astute clinician, syndromic surveillance can help delineate the size, location, and tempo of the epidemic or provide reassurance that a large outbreak is not occurring when a single case or a small, localized cluster of an unusual illness is detected. More broadly, however, as public health and medicine proceed in our information age, the use of existing el...

  3. WAARDENBURG SYNDROME TYPE II: A CASE REPORT

    OpenAIRE

    Santosh Kumar; Sunil Kumar; Anand

    2014-01-01

    Waardenburg syndrome is a rare syndrome, characterized by lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis, prominent broad nasal root, hypertrichosis of the medial part of the eyebrows, white forelock, heterochromia iridis, and deaf mutism. A four months old girl with waardenburg syndrome type II, who had the characterstic features of the syndrome, is reported.

  4. Chondroectodermal dysplasia: a rare syndrome.

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    Dana Tahririan

    2014-06-01

    Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

  5. PIRIFORMIS SYNDROME: A CLINICAL REVIEW

    OpenAIRE

    Samarjit; De, Saurav; Prithwis

    2013-01-01

    ABSTRACT: Piriformis Syndrome is a cause for Low back pain whi ch is most of the times misdiagnosed as it may mimic with various other con ditions. Abnormal condition of the Piriformis muscle such as hypertrophy, inflammation, or anatomic variations may lead to this condition. Reported incidence rates for Piriformis S yndrome among patients with low back pain vary widely, from 5% to 36%. Etiology of Piriformis Syndrome is also variable. It can be primary due t...

  6. Eagle's syndrome: a case report

    OpenAIRE

    Moon, Chang-Sig; Lee, Baek-Soo; Kwon, Yong-Dae; Choi, Byung-Jun; Lee, Jung-Woo; Lee, Hyun-Woo; Yun, Sun-Ung; Ohe, Joo-Young

    2014-01-01

    Eagle's syndrome is a disease caused by an elongated styloid process or calcified stylohyoid ligament. Eagle defined the disorder in 1937 by describing clinical findings related to an elongated styloid process, which is one of the numerous causes of pain in the craniofacial and cervical region. The prevalence of individuals with this anatomic abnormality in the adult population is estimated to be 4% with 0.16% of these individuals reported to be symptomatic. Eagle's syndrome is usually charac...

  7. A Case with Cowden Syndrome

    Directory of Open Access Journals (Sweden)

    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.

  8. A guide to Hughes' syndrome.

    Science.gov (United States)

    Sheehan, Tina Louise

    Hughes' syndrome, or antiphospholipid syndrome, is thought to be the cause of one in four strokes in people aged less than 40 years. It is an antiinflammatory autoimmune disorder in which the blood has a tendency to clot too quickly. It can affect any artery or vein in the body and the main symptoms are thrombosis, pregnancy loss and the presence of antibodies. If detected it can be treated effectively.

  9. Sick sinus syndrome: a review.

    Science.gov (United States)

    Semelka, Michael; Gera, Jerome; Usman, Saif

    2013-05-15

    Sick sinus syndrome refers to a collection of disorders marked by the heart's inability to perform its pacemaking function. Predominantly affecting older adults, sick sinus syndrome comprises various arrhythmias, including bradyarrhythmias with or without accompanying tachyarrhythmias. At least 50 percent of patients with sick sinus syndrome develop alternating bradycardia and tachycardia, also known as tachy-brady syndrome. Sick sinus syndrome results from intrinsic causes, or may be exacerbated or mimicked by extrinsic factors. Intrinsic causes include degenerative fibrosis, ion channel dysfunction, and remodeling of the sinoatrial node. Extrinsic factors can be pharmacologic, metabolic, or autonomic. Signs and symptoms are often subtle early on and become more obvious as the disease progresses. They are commonly related to end-organ hypoperfusion. Cerebral hypoperfusion is most common, with syncope or near-fainting occurring in about one-half of patients. Diagnosis may be challenging, and is ultimately made by electrocardiographic identification of the arrhythmia in conjunction with the presence of symptoms. If electrocardiography does not yield a diagnosis, inpatient telemetry monitoring, outpatient Holter monitoring, event monitoring, or loop monitoring may be used. Electrophysiologic studies also may be used but are not routinely needed. Treatment of sick sinus syndrome includes removing extrinsic factors, when possible, and pacemaker placement. Pacemakers do not reduce mortality, but they can decrease symptoms and improve quality of life.

  10. [Diogenes syndrome: a transnosographic approach].

    Science.gov (United States)

    Hanon, C; Pinquier, C; Gaddour, N; Saïd, S; Mathis, D; Pellerin, J

    2004-01-01

    Diogenes syndrome is a behavioural disorder of the elderly. Symptoms include living in extreme squalor, a neglected physical state and unhygienic conditions. This is accompanied by a self-imposed isolation, the refusal of external help and a tendency to accumulate heteroclite objects. This particular geriatric syndrome has been described for the first time only quite recently, as the 2 primary descriptions by geriatricians and psychiatrists date from 1966 and 1975 respectively. Its rare occurrence contrasts with the fact that it is well-known, partly due to it being named after the Greek philosopher "Diogene de Sinope", who taught cynicism philosophy and a return to a natural way of life, and partly because of its rare characteristics. The Diogenes syndrome is a fascinating object of study for the clinician who takes care of patients living in uncommon conditions, on the edge of society and unaware of the particularity of their lifestyles. Patients suffering from Diogenes syndrome are usually discovered by chance, either because of a somatic illness, or as a result of social intervention related to their behavioural problems. Management of the syndrome is difficult and ethically challenging, as the patient does not seek help. Moreover, 46% of patients have a 5 year mortality rate. Hospitalisation has to be avoided whenever possible and ambulatory treatment and social measures should be favoured. Psychotropic treatment prescription may be necessary, depending on clinical features and the possible underlying psychiatric disease. Although several clinical hypotheses have been suggested, the true ethiopathogeny of the syndrome remains unclear. Most authors agree that this behaviour does not reflect free will and has consequently no theoretical relationship to the Greek philosopher. There is no true consensus about diagnostic criteria. They include the main features of the syndrome and exclude known psychiatric syndromes. Clark and Mankikar, who named this syndrome

  11. Stylocarotid syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Petrović Branko

    2008-01-01

    Full Text Available INTRODUCTION The American otolaryngologist Eagle was the first to describe styloid syndrome in 1937 and the syndrome was named after him (Eagle's syndrome. The original description of two separate syndromes is connected with his name: classical syndrome, which almost constantly occurs after tonsillectomy and carotid artery syndrome, which occurs without tonsillectomy and also in cases when stylohyoid complex compresses the carotid segments and perivascular sympathetic fibers. In the following years, two more syndromes were defined: stylohyoid and pseudostylohyoid, which according to their manifestations, correspond to the genuine classical form. CASE OUTLINE A 40-year old male is presented, with a history of 3-year duration of pains in the upper part of the left side of the neck, in the left eye and its surroundings. Pain occurrences were not regular. Throbbing pains were most often provoked by sudden head movements and neck compression. He was healthy until the onset of these problems. The findings of all examinations were normal. The applied prophylactic therapy, typical for cluster headache, was without any effect. On 64-MSCT (multislice computed tomography, the neck arteries did not show any intraluminal pathology. The styloid processes were of normal length. On the left side, the styloid process tip pressed the internal carotid artery disturbing its longitudinal axis. CONCLUSION In our presentation, the defined lengths of the styloid processes were normal. The medial angulation of the left styloid process was more expressed reaching 63.5 degrees (the right side angulation was normal. Persistent and throbbing pain in the region of the left eye with backward projection suggested compression on the internal carotid artery. Pains were most frequently provoked by head turning and neck compression. 64-MSCT diagnostics enabled us to determine the characteristics of styloid processes and their relation to the internal carotid artery. Improvement

  12. A rare cause of acute coronary syndrome: Kounis syndrome.

    Science.gov (United States)

    Almeida, João; Ferreira, Sara; Malheiro, Joana; Fonseca, Paulo; Caeiro, Daniel; Dias, Adelaide; Ribeiro, José; Gama, Vasco

    2016-12-01

    Kounis syndrome is an acute coronary syndrome in the context of a hypersensitivity reaction. The main pathophysiological mechanism appears to be coronary vasospasm. We report the case of a patient with a history of allergy to quinolones, who was given ciprofloxacin before an elective surgical procedure and during drug administration developed symptoms and electrocardiographic changes suggestive of ST-segment elevation acute coronary syndrome. The drug was suspended and coronary angiography excluded epicardial coronary disease. Two hours after withdrawal of the drug the symptoms and ST elevation had resolved completely.

  13. [Jerusalem syndrome - a case report].

    Science.gov (United States)

    Poleszczyk, Anna; Swiecicki, Łukasz

    2013-01-01

    The aim of the paper was to present the case of a patient who developed acute psychotic symptoms on her visit to Jerusalem. The analysis of the clinical case and medical history. The presented 62-year-old women with a history of previous psychiatric disorder arrived with her husband to Jerusalem as a part of organised touristic group. She developed acute psychotic reaction through some stages characteristic for the third type of Jerusalem syndrome. Symptoms resolved completely soon after returning to Poland and admission to the hospital where an antipsychotic treatment was performed. Despite the rare occurrence of this phenomenon, it is worth noting that we can divide Jerusalem syndrome into three types depending on its clinical course, patient's history of previous psychiatric disorders and this division has some clinical implications. This syndrome can be also considered in the context of some factors connected with travelling in general which may be responsible for psychiatric disturbances occurring among travelers. The course of psychiatric disturbances in the presented patient resembled the third type of Jerusalem syndrome despite her past psychiatric history and probably travelling caused her decompensations. In clinical practice we have to remember that in case of the patients with a known psychiatric history, clinical evaluation may be useful before travelling. In previously healthy patients developing the third type of the Jerusalem syndrome early intervention and separation from Jerusalem and its holy places and their contact with family are crucial for soon recovery.

  14. A Child With H Syndrome

    Directory of Open Access Journals (Sweden)

    Nasimfar

    2016-02-01

    Full Text Available Introduction H syndrome (OMIM 612391 is an autosomal recessive disease with some features such as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia. Case Presentation A 17-year-old boy with hyperpigmented, hypertrichotic and indurated seborrheic keratosis-like cutaneous patches mainly involving the extremities referred to Namazi hospital, an academic center affiliated to Shiraz university of medical sciences. The patient belonged to a consanguineous family with Arab origin. Conclusions We described a case with many clinical manifestations of H syndrome in addition to new characteristics such as microphallus. H syndrome should be considered in individuals with a constellation of symptoms as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia.

  15. Cohen Syndrome. A Case Report

    Directory of Open Access Journals (Sweden)

    Elayne Esther Santana Hernández

    2014-04-01

    Full Text Available Cohen syndrome is a rare genetic disease that is transmitted in an autosomal recessive pattern. It is characterized by obesity, hypotonia, mental retardation, microcephaly, typical craniofacial dysmorphism, large and prominent central incisors as well as thin, spindle-shaped fingers. The locus for Cohen syndrome has been located on chromosome 8q 22 (COH 1. Few cases have been reported since its description, it is clinically diagnosed through a proper delineation of the phenotype. The case of 14-year-old patient with this syndrome in whom a clinical diagnosis had not been established thus far is presented. An accurate delineation of the phenotype was achieved at this age and consequently, the correct diagnosis was reached, which is critical in order to provide better genetic counseling to the family.

  16. Griscelli Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Seyed Ebrahim MANSOURI NEJAD

    2014-12-01

    Full Text Available How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, BeiraghiToosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4: 72-75.ObjectiveGriscelli syndrome (GS is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.ReferencesKharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J 2007 1;13(2:17.Sheela SR, Latha M, Susy JI. Griscelli syndrome: Rab 27a mutation. Indian Pediatrics 2004; 41:944-947.González Carretero P, Noguera Julian A, Ricart Campos S, Fortuny Guasch C, Martorell Sampol L. Griscelli-Prunieras syndrome: report of two cases. An Pediatr (Barc 2009 ; 70(2:164-7.Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, et al. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol 2011 Dec;24(6:471-3.Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol 2012 Oct;34(7:541-4.Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology 2011; 3(2:107-11.Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: clue to diagnose immunodeficiency. Int J Trichology 2012;4(2:83-5.Mahalingashetti PB, Krishnappa MH, Kalyan PS

  17. Osmotic demyelination syndrome with a dysequilibrium syndrome: reversible MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Agildere, A.M.; Coskun, M.; Boyvat, F. [Baskent University Medical School Hospital, Radiology Department, Ankara (Turkey); Benli, S. [Baskent University Medical School Hospital, Neurology Department, Ankara (Turkey); Erten, Y.; Oezdemir, N. [Baskent University Medical School Hospital, Nephrology Department, Ankara (Turkey)

    1998-04-01

    Neurological disorders may be seen in end-stage renal disease patients due to uraemia or to complications of dialysis. A dysequilibrium syndrome may be seen, usually soon after or towards the end of haemodialysis. This group of patients has no particular findings on MRI. On the other hand, the osmotic demyelination syndrome has definitive MRI findings, not to date reported with the dysequilibrium syndrome. We report a patient with end-stage renal disease and the dysequilibrium syndrome who showed findings of osmotic demyelination on MRI. The patient had a convulsion after a first haemodialysis, with quadriparesis and hyperactive deep tendon reflexes and bilateral Babinski signs. The upper motor neurone signs lasted for a week. Meanwhile, he was also dysarthric and had dysphagia. He recovered neurologically without any residuum following appropriate treatment and there was improvement on MRI. (orig.) With 3 figs., 11 refs.

  18. Dress Syndrome - A Case Report

    Directory of Open Access Journals (Sweden)

    Kremić Zorana

    2016-06-01

    Full Text Available The drug reaction with eosinophilia and systemic symptoms (DRESS syndrome is an adverse drug-induced reaction that occurs most commonly after exposure to drugs, most frequently anticonvulsants, sulfa derivates, antidepressants, nonsteroidal anti-inflammatory drugs, and antimicrobials. We present a 61-year-old male, with a generalized maculopapular exanthema on the trunk, face, extremities, palms, soles, palate, and fever (38°C. His medical history was notable for generalized epilepsy, treated with carbamazepine during 1 month. The diagnosis of DRESS syndrome was confirmed by specific RegiSCAR criteria. In our case, skin eruptions were successfully treated with oral methylprednisolone, cephalexin, and topical corticosteroid ointment.

  19. Serotonin syndrome versus neuroleptic malignant syndrome: a challenging clinical quandary.

    Science.gov (United States)

    Dosi, Rupal; Ambaliya, Annirudh; Joshi, Harshal; Patell, Rushad

    2014-06-23

    Serotonin syndrome and neuroleptic malignant syndrome are two drug toxidromes that have often overlapping and confusing clinical pictures. We report a case of a young man who presented with alteration of mental status, autonomic instability and neuromuscular hyperexcitability following ingestion of multiple psychiatric and antiepileptic medications. The patient satisfied criteria for serotonin syndrome and neuroleptic malignant syndrome, and based on the characteristic clinical features, laboratory findings and clinical course it was concluded that the patient had both toxidromes. The patient was managed with cyproheptadine and supportive measures, and recovered over the course of 3 weeks. A brief review of literature highlighting the diagnostic clues as well as the importance of recognising and distinguishing the often missed and confounding diagnoses follows.

  20. [Kartagener's syndrome: a case report].

    Science.gov (United States)

    Thiam, M; Gning, S B; Faye, M B; Fall, P D; Mbaye, A; Charpentier, P

    2002-01-01

    The authors report a rare case of Kartagener's syndrome in 8 years old girl revelated by congenital cardiopathy with chronic bronchitis and severe heart failure. Incomplet endocardial cushion defect with single atrium was found and situs inversus suspected, confirmed by ultrasonography. She undergone cardiac surgery in Europe: atrial septation and mitralvalve repair. Surgery redux was neccessary formitral insufficency and residual shunt. Persistent atelectasia in lower inferior lobe indicated bronchoscopy. Lung biopsy confirmed Kartagener's syndrome. Now, she has no cardiac symptom, but bronchitis and chronic pansinusitis.

  1. A CASE OF KARTAGENER SYNDROME

    Directory of Open Access Journals (Sweden)

    Pagadpally

    2013-03-01

    Full Text Available INTRODUCTION: Kartagener syndrome is a inherited disorder chara cterised by impaired ciliary dysfunction due to primary ciliary dyskinesi a(PCD along with situs inversus, leading to diverse clinical manifestations like chronic sinopul monary infection, persistent middle ear infection and infertility. We report a young male ch ild with chronic sinopulmonary infection and situs inversus

  2. Evans Syndrome: A case report

    Directory of Open Access Journals (Sweden)

    F. Porcaro

    2014-08-01

    Full Text Available We describe a case of a 14-years old caucasian female affected by autoimmune hemolytic anemia and thrombocytopenia successfully treated with intravenous immunoglobulin and steroids. Nevertheless, neutropenia occurred during follow-up period. Positivity of direct antiglobulin test and sieric anti-neutrophil antibodies suggested the diagnosis of Evans syndrome trilineage.

  3. POST PANCREATITIS SMA SYNDROME : A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ritesh M

    2015-05-01

    Full Text Available Superior mesenteric artery (SMA syndrome is a rare acquired disorder in which acute angulation of SMA causes compression of the third part of the duodenum between the SMA and the aorta, leading to obstruction. Loss of fatty tissue as a result of a variet y of debilitating conditions is believed to be the etiologic factor causing the acute angulation. Conditions like increased spinal lordosis, application of a body cast, short ligament of Treitz or unusually low origin of SMA may also precipitate this syndr ome. The diagnosis of SMA syndrome is based on clinical symptoms and radiologic evidence of obstruction. SMA syndrome has been described after rapid or severe weight loss in conditions such as cancer or extensive burn injuries, prolonged bed rest, anorexia , or malabsorption syndromes. Herewith we are reporting a case of post pancreatitis SMA syndrome. KEYWORDS: Post pancreatitis SMA syndrome; superior mesenteric artery syndrome; SMA syndrome.

  4. Chronic anconeus compartment syndrome: A case report.

    Science.gov (United States)

    Steinmann, S P; Bishop, A T

    2000-09-01

    Compartment syndrome of the forearm is commonly associated with the volar compartment. We present a case of compartment syndrome of the anconeus muscle. Release of the anconeus muscle fascia provided relief of symptoms.

  5. Sturge-Weber syndrome: a case report

    OpenAIRE

    Luiz Felipe G. dos Santos; Joanna G. da Conceição; Thaís Pimentel de Sá Bahia; Vanessa de A. S. Silva; Maria Eliza Barbosa Ramos; Mônica Israel

    2011-01-01

    Introduction: The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. The main clinical features of this syndrome are facial vascular cutaneous naevus, usually unilateral, which often follows the outline distribution of trigeminal nerve. Objective: To report a clinical case of Sturge-Weber Syndrome in a 29-yeral-old male patient who presented oral manifestations related to the syndrome. Case report and conclusion: The patient re...

  6. HAMMAN’S SYNDROME: A RARE ENTITY

    Directory of Open Access Journals (Sweden)

    Ajmal Shad

    2014-06-01

    Full Text Available Hamman's syndrome is a rare entity, also known as Macklin's syndrome, a syndrome of spontaneous subcutaneous emphysema and pneumomediastinum. We report an unusual case of a young female patient presenting with breathlessness and chest pain of sudden onset, gradually progressive in nature and with history of bronchial asthma for last 8 years, along with other investigations. Chest x ray and computerized tomography was and later diagnosed as Hamman's syndrome

  7. [Gerstmann's syndrome: report of a case].

    Science.gov (United States)

    Rosati, G; de Bastiani, P; Pinna, L

    1979-01-01

    In recent years, several authors have questioned the reliaty of Gerstmann syndrome and have claimed that "aphasia might be regarded as the true Grundstörung of the Gerstmann symptoms". This paper describes a case of Gerstmann syndrome ictally risen with aphasia in a patient suffering from a tumour of the left PTO region. After the remission of aphasia, the syndromic association typical of the Gerstmann syndrome lasted up the exitus.

  8. Joubert Syndrome - A Case Report

    Directory of Open Access Journals (Sweden)

    Bandichhode S. T.

    2013-07-01

    Full Text Available Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia, neonatal breathingproblems and mental retardation.

  9. A Case of Blau Syndrome

    Directory of Open Access Journals (Sweden)

    Krati Chauhan

    2014-01-01

    Full Text Available We present a case of systemic granulomatous disorder/Blau syndrome. A patient was seen at our clinic with a diagnosis of Juvenile Idiopathic Arthritis (JIA. He was diagnosed with polyarticular JIA when he was two years old, at that time primary manifestations included inflammation of the hand and wrist joints bilaterally, later he developed ocular symptoms, which were attributed to JIA. He had liver, skin, pulmonary manifestations, and diagnostic workup including biopsy revealed granulomatous inflammation of these sites. During the diagnostic workup, he had worsening of ocular complaints, retinal exam showed panuveitis with multifocal choroiditis. These ocular findings are not seen in JIA, this, along with his other systemic manifestations, led us to revisit the diagnosis. Laboratory testing for genetic mutation for Blau syndrome was done and came back positive. Now all of his systemic findings were placed under one umbrella of systemic granulomatous syndrome/Blau syndrome. Due to worsening of ocular manifestations, he was started on Adalimumab with marked improvement of ocular and systemic manifestations and is followed by team that consists of Rheumatologist, Ophthalmologist, and Gastroenterologist.

  10. WAARDENBURG SYNDROME TYPE II: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Santosh Kumar

    2014-10-01

    Full Text Available Waardenburg syndrome is a rare syndrome, characterized by lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis, prominent broad nasal root, hypertrichosis of the medial part of the eyebrows, white forelock, heterochromia iridis, and deaf mutism. A four months old girl with waardenburg syndrome type II, who had the characterstic features of the syndrome, is reported.

  11. Sjogren′s Syndrome: A Review

    Directory of Open Access Journals (Sweden)

    Rani Somani

    2011-01-01

    Full Text Available Sjogren′s syndrome, also known as "Mikulicz disease" or "Sicca syndrome" is a systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva. It can exist by itself (primary Sjogren syndrome or develop in association with another disorder such as rheumatoid arthritis, systemic sclerosis, primary biliary cirrhosis or Hashimoto thyroiditis (associated Sjogren syndrome. Hallmarks are the dry mouth and dry eyes known as the Sicca syndrome. Sjogren syndrome affects t million to 4 million people in the United States- Most are over 40 years old at the time of diagnosis. As there is no known cure for Sjogren syndrome, treatment focuses on relieving symptoms and preventing complications. The most serious complication associated with primary Sjogren syndrome is the development of a lymphoproliferative disease. primarily non-Hodgkin lymphoma.

  12. Sjogren's Syndrome: A Place to Begin

    Science.gov (United States)

    ... Click here to find a place to begin. Sjögren’s Syndrome: A Place To Begin from Sjögren’s Syndrome Foundation on Vimeo . anxiety and buy , tranquility as well as medication © 2017 Sjögren’s Syndrome Foundation, Inc. 6707 Democracy Blvd, Ste 325, Bethesda, ...

  13. Sjogren's Syndrome: A Place to Begin

    Medline Plus

    Full Text Available ... Click here to find a place to begin. Sjögren’s Syndrome: A Place To Begin from Sjögren’s Syndrome Foundation on Vimeo . anxiety and buy , tranquility as well as medication © 2017 Sjögren’s Syndrome Foundation, Inc. 6707 Democracy Blvd, Ste 325, Bethesda, ...

  14. [Meckel Gruber syndrome: about a rare case].

    Science.gov (United States)

    Itchimouh, Sanaa; Khabtou, Karima; Mahdaoui, Sakher; Boufettal, Houssine; Samouh, Naima

    2016-01-01

    Meckel Gruber syndrome is a rare autosomal recessive polymalformation syndrome characterized by occipital encephalocele, polydactyly and cystic renal dysplasia. Ultrasound is, at present, the best tool for prenatal screening of this lethal polymalformation and diagnosys is confirmed by karyotyping. We here report a case of Meckel Gruber syndrome detected by ultrasound. Abortion was performed at 25 weeks of amenorrhoea.

  15. Computer vision syndrome: a review.

    Science.gov (United States)

    Blehm, Clayton; Vishnu, Seema; Khattak, Ashbala; Mitra, Shrabanee; Yee, Richard W

    2005-01-01

    As computers become part of our everyday life, more and more people are experiencing a variety of ocular symptoms related to computer use. These include eyestrain, tired eyes, irritation, redness, blurred vision, and double vision, collectively referred to as computer vision syndrome. This article describes both the characteristics and treatment modalities that are available at this time. Computer vision syndrome symptoms may be the cause of ocular (ocular-surface abnormalities or accommodative spasms) and/or extraocular (ergonomic) etiologies. However, the major contributor to computer vision syndrome symptoms by far appears to be dry eye. The visual effects of various display characteristics such as lighting, glare, display quality, refresh rates, and radiation are also discussed. Treatment requires a multidirectional approach combining ocular therapy with adjustment of the workstation. Proper lighting, anti-glare filters, ergonomic positioning of computer monitor and regular work breaks may help improve visual comfort. Lubricating eye drops and special computer glasses help relieve ocular surface-related symptoms. More work needs to be done to specifically define the processes that cause computer vision syndrome and to develop and improve effective treatments that successfully address these causes.

  16. Meckel Gruber Syndrome: A Case Report

    OpenAIRE

    Celal Devecioglu; Hakkı Özdogan; Bernan Yokus

    2004-01-01

    Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele), hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Synd...

  17. Neuroleptic malignant syndrome (a case report.

    Directory of Open Access Journals (Sweden)

    Patkar A

    1991-07-01

    Full Text Available An adult schizophrenic patient developed neuroleptic malignant syndrome following treatment with parenteral haloperidol. An early recognition of the syndrome, immediate discontinuation of the offending agent and prompt treatment with bromocriptine and lorazepam produced a good recovery. The various features of the case are discussed in view of the potential lethality of the syndrome.

  18. Eagle syndrome. A narrative review

    OpenAIRE

    Heber Arbildo; Luis Gamarra; Sandra Rojas; Edward Infantes; Hernán Vásquez

    2016-01-01

    Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid pro...

  19. Rett syndrome: A rare case

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    Deepika Verma

    2016-01-01

    Full Text Available Rett syndrome (RTT is rare, affects predominantly female children. It presents as a pervasive developmental disorder with a remarkable behavioral phenotype. The discovery that mutation in methyl-C-phosphate-G-binding protein 2 causes RTT has focused attention to the importance of epigenetic modifications in neuronal function. We report a case of RTT in a 7-year-old female child and use of behavioral techniques and social skill training to control the behavioral symptoms.

  20. Phantom limb syndrome: a review.

    Science.gov (United States)

    Chahine, Lama; Kanazi, Ghassan

    2007-06-01

    Phantom limb syndrome is a condition in which patients experience sensations, whether painful or otherwise, in a limb that does not exist. It has been reported to occur in 80-100% of amputees, and typically has a chronic course, often resistant to treatment. Risk factors include the presence of preoperative pain, traumatic amputation, and the type of anesthetic procedure used during amputation. Several pathophysiologic theories have been proposed, including spinal mechanisms, central sensitization, and somatosensory cortical rearrangements, and while recent studies have shed light on some interesting and significant data, a lot remains to be understood. Treatments include pharmacologic, mechanical, and behavioral modalities, but substantial efficacy in well-designed, randomized controlled trials has yet to be demonstrated. Phantom limb syndrome continues to be a difficult condition to both understand and treat.

  1. Glucagonoma syndrome: a case report

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    García Bernardo Carmen M

    2011-08-01

    Full Text Available Abstract Introduction Glucagonoma syndrome is a rare paraneoplastic phenomenon, with an estimated incidence of one in 20 million, characterized by necrolytic migratory erythema, hyperglucagonemia, diabetes mellitus, anemia, weight loss, glossitis, cheilitis, steatorrhea, diarrhea, venous thrombosis and neuropsychiatric disturbances in the setting of a glucagon-producing alpha-cell tumor of the pancreas. Necrolytic migratory erythema is the presenting manifestation in the majority of cases, so its early suspicion and correct diagnosis is a key factor in the management of the patient. Case presentation We present the case of a 70-year-old Caucasian woman with glucagonoma syndrome due to an alpha-cell tumor located in the tail of the pancreas, successfully treated with surgical resection. Conclusion Clinicians should be aware of the unusual initial manifestations of glucagonoma. Early diagnosis allows complete surgical resection of the neoplasm and provides the only chance of a cure.

  2. Williams-Beuren's Syndrome: A Case Report

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    Hassan Zamani

    2012-01-01

    Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  3. Williams-Beuren's Syndrome: A Case Report.

    Science.gov (United States)

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  4. Progeria syndrome: A case report

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    Rastogi Rajul

    2008-01-01

    Full Text Available Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.

  5. A Case of Hepatopulmonary Syndrome.

    Science.gov (United States)

    Sriram, P B; Sindhuja, R; Natarajan, M; Rajamurugan, P S Arul; Palanikumar, B

    2016-03-01

    We report the case of a 52-year-old female, a known case of Chronic Liver Disease with portal hypertension. She presented with dyspnoea, platypnoea, melena, cyanosis, clubbing and orthodeoxia. She had oesophageal varices and splenomegaly indicating portal hypertension. Her arterial blood gas revealed hypoxaemia and orthodeoxia. From this clinical background and investigation, a diagnosis of hepatopulmonary syndrome was made. Patient was managed conservatively as she was not willing for liver transplantation.

  6. Body Stalk Syndrome: A Curiosity

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    Anita Javalgi

    2014-07-01

    Full Text Available Limb body wall complex (LBWC /Body stalk syndrome anomaly refers to a rare complicated polymalformative fetal malformation syndrome of uncertain etiology firstly described by Van Allen et al in 1987. There are very few cases reported in literature and thus we report a rare case of LBWC. Twenty seven years female presented to labour room with 32 weeks of gestation with no prenatal care and delivered a low birth weight still born fetus weighing 1100gms. On fetal autopsy large abdominal wall defect was noted with difficulty in identifying abdomino-pelvic organs and ambiguous genitalia. Placenta weighed 250gms with attached short umbilical cord measuring 7cms, arising from periphery. A cyst noted attached to placental membrane measuring 9x5cms which on dissection retrieved partially maldeveloped organs. Post mortem radiological findings included Absence of right femur with short tibia and right fibula, Complex vestibral malformation, Craniosynostosis and Overcrowding of ribs.

  7. Diogenes Syndrome: A Case Report

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    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.

  8. Antiphospholipid syndrome: A case study

    Energy Technology Data Exchange (ETDEWEB)

    Davies, T. [Royal Adelaide Hospital, Adelaide, SA (Australia). Department of Nuclear Medicine

    1998-03-01

    Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient``s high risk of strokes and hemorrhaging prompted investigation by a {sup 99}mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome.

  9. Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes?

    Science.gov (United States)

    Stamatiou, K. N.; Karakos, C. D.

    2010-01-01

    The urofacial syndrome is probably a subset of neurogenic bladder dysfunction syndromes characterized by detrusor-sphincter discoordination along with a characteristic inversion of facial expression with laughing. This characteristic facial expression can facilitate early detection of this disorder, which leads to poor bladder emptying with high residual urine, hydro-nephrosis with vesico-ureteral reflux and potentially renal failure if left untreated. The etiology of the urofacial syndrome is unknown. In our case, a 12-year-old boy of Middle-Eastern origin presented to the Outpatient Department of our hospital with left pyelonephritis, hydronephrosis and bladder dilatation. Voiding cystourethrography performed 15 days later revealed left vesicoureteral reflux. Cystoscopy revealed bladder trabeculation however an anatomic urethral obstruction was not noticed. Both, neurological examination and radiography of the lumbosacral spine were normal. Urodynamic evaluation revealed the typical findings of detrusor-sphincter discoordination. PMID:21369396

  10. Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes?

    Directory of Open Access Journals (Sweden)

    K N Stamatiou

    2010-01-01

    Full Text Available The urofacial syndrome is probably a subset of neurogenic bladder dysfunction syndromes characterized by detrusor-sphincter discoordination along with a characteristic inversion of facial expression with laughing. This characteristic facial expression can facilitate early detection of this disorder, which leads to poor bladder emptying with high residual urine, hydro-nephrosis with vesico-ureteral reflux and potentially renal failure if left untreated. The etiology of the urofacial syndrome is unknown. In our case, a 12-year-old boy of Middle-Eastern origin presented to the Outpatient Department of our hospital with left pyelonephritis, hydronephrosis and bladder dilatation. Voiding cystourethrography performed 15 days later revealed left vesicoureteral reflux. Cystoscopy revealed bladder trabeculation however an anatomic urethral obstruction was not noticed. Both, neurological examination and radiography of the lumbosacral spine were normal. Urodynamic evaluation revealed the typical findings of detrusor-sphincter discoordination.

  11. Meckel Gruber Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Celal Devecioglu

    2004-01-01

    Full Text Available Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele, hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Syndrome which seen rarely, have high risk of reccurenceand antenathal determination of AFP levels and early diagnosis byultrasonographic screening can be confident.

  12. Impostor Syndrome, a Reparative History

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    Dana Simmons

    2016-08-01

    Full Text Available This is an attempt to insert the stories we tell about fear and shame into a history of twentieth-century psychology and its obsession with achievement and modernization. It is an attempt to write an affective history of achievement at the turn of the millennium - and to make this feeling history. Impostor Syndrome is a pop-psychological diagnosis, employed to explain the low presence of women in STEM fields, business and academic administration and ’thought leadership’ in the pubic sphere. The article follows the intellectual lineage of two precursors of Impostor Syndrome, Fear of Success and the Impostor Phenomenon. It argues that the grouping of gender/ race/ success/ affect was a keystone of twentieth-century American psychology and development theory. The history of this feeling has consequences for thinking about situated knowledge, realism and epistemic justice.

  13. Gitelman Syndrome: A Case Report

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    F Tabatabaei

    2012-10-01

    Full Text Available Background: Gitelman syndrome is a rare autosomal recessive disorder that typically presents with recurrent muscle cramps, carpopedal spasms, hypokalemic metabolic alkalosis, hypocalciuria and hypomagnesemia and high urine magnesium during adolescence. Mutation in the gene encoding for sodium chloride co-transporter in distal convoluted tubule causes electrolyte imbalance.Case presentation: We present a 10-year-old boy complaining of carpopedal spasms, tingling of fingers and facial parestesia for three years prior to his admission in endocrinology clinic of H. Ali-Asghar Pediatric Hospital. The patient had metabolic alkalosis, hypokalemia, hypocalciuria, increased urine fraction excretion of Mg, serum magnesium of 1.8 mg/dl, normal serum calcium and phosphorus and normal blood pressure. His clinical manifestations recovered after potassium and magnesium administration.Conclusion: A patient with Gitelman syndrome with normal serum Mg. is presented.

  14. Premenstrual syndrome: a psychological overview.

    Science.gov (United States)

    Riven, L

    1983-10-01

    This paper reviews the premenstrual syndrome (PMS) from a historical and psychological perspective. The physician must recognize that the premenstruum-the four days before the onset of the menses-is a `high risk' phase for women. They may demonstrate somatic and psychological complaints such as irritability, aggression, tension, anxiety, depression, lethargy, insomnia, poor coordination and concentration. Psychological disturbances can range from self-deprecation and the feeling that `everything is too much' to pronounced feelings of oppression and depression. Psychiatric patients may become even more disturbed at this time. Recent reviews on PMS have studied its etiology and its possible connection to hormone imbalance, but to date there is no complete explanation for the syndrome's psychological symptoms. The most promising treatments for the psychological symptoms of PMS are pyridoxine (although there are conflicting reports about it), antidepressants, benzodiazepines if anxiety and tension dominate, and ongoing psychotherapy for severe cases.

  15. Eagle syndrome: a case report

    OpenAIRE

    Nilüfer Ersan; Mehmet İlgüy; Dilhan İlgüy

    2016-01-01

    INTRODUCTION: Eagle syndrome, an uncommon sequela of elongation of the styloid process or calcification of the stylohyoid ligament, can manifest as pain in the face and the anterolateral neck, often with referred pain to the ear and the temporomandibular joint area. CASE REPORT: A 43-year-old female patient presented to the Dentomaxillofacial Radiology Department with complaints of unremitting unilateral facial and neck pain, limitation in the movement of the neck, sensation of foreign bo...

  16. HAGLUND SYNDROME: A CASE REPORT

    OpenAIRE

    Indira; Prakash; Venkateshwaran,; Shivashankar,; Gowrish

    2015-01-01

    Haglund Syndrome is one of the causes of posterior heel pain. It is the inflammation of the tendoachilles at the calcaneal insertional site and the regional soft tissues. It comprises of insertional Achilles tendinopathy, retrocalcaneal & retroachilles bursitis and posterior calcaneal bony spur. Imaging plays a very important role in the diagnosis as it can be mimicked by several other conditions like isolated retrocalcaneal bursitis, enthesopathies and accessory soleu...

  17. Heerfordt Syndrome: A Case Report

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    Füsun Mayda Domaç

    2010-09-01

    Full Text Available Heerfordt syndrome is a form of neurosarcoidosis with the combination of fever, enlargement of the parotid gland, anterior uveitis, and facial nerve paralysis. We present a 38-year-old female patient who had a solid and painful swelling behind each ear 20 days after the complaints of redness of both eyes, fatigue, night sweat, and weight loss. Three weeks later, right facial paralysis developed, and the patient was seen in our outpatient clinic. On physical examination, bilateral solid and painful masses were observed on the parotid glands. Neurological examination was normal except for the right facial nerve paralysis. Ophthalmologic examination revealed bilateral anterior uveitis. Cranial magnetic resonance imaging was normal. On parotid gland magnetic resonance imaging, enlargement, lobulation and cystic lesions on both parotid glands with heterogeneous contrast involvement were observed. Parotid biopsy showed non-necrotizing granulomatous sialadenitis. There were multiple nodules on both lungs on mediastinum computerized tomography. Laboratory tests revealed: C-reactive protein 0.75 mg/dL, erythrocyte sedimentation rate 26 mm/hour and angiotensin-converting enzyme 83 U/L (N: 8-52 U/L Though the patient, diagnosed as Heerfordt syndrome, had phase 1 sarcoidosis, she was treated with 45 mg/day steroid because of the multiple organ involvement. In conclusion, Heerfordt syndrome, a rare manifestation of neurosarcoidosis, must be kept in mind in the differential diagnosis of facial nerve paralysis.

  18. GORDON SYNDROME: A CASE REPORT

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    Rita

    2015-03-01

    Full Text Available BACKGROUND: Gordon Syndrome is an extremely rare disorder and it is part of a group of genetic disorders known as Arthrogryposis multiplex congenita. There are congenital contractures in at least two or more areas of body. Gordon Syndrome is characterized by congenital Camptodactyly, Clubfoot and Cleft Palate. CASE CHARACTERISTICS: One month female baby presented with congenital distal contra ctures in hands ( C amptodactyly, talipes equinovarus deformity in both lower limbs ( C lub feet, hyperextension of left leg at knee joint, central cleft palate, oral thrush. INTERVENTION: Treatment of oral thrush, feeding advice and physiotherapy. OUTCOME: Relieved of oral thrush, weight gain started and attached to Plastic Surgery, Orthopedic and Physiotherapy Specialties. MESSAGE: Sporadic cases of this rare disorder do occur and not many cases have been reported from India.

  19. Costello Syndrome. A case report

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    Yadelis Maldonado Martínez

    2014-06-01

    Full Text Available Costello syndrome is an extremely rare multisystem congenital disorder; only about 250 cases have been described in the literature. Its inheritance pattern is considered to be autosomal dominant, although most cases are sporadic, suggesting de novo dominant mutations. The case of a 7-year-old patient from the Frank País municipality in Holguín with clinical manifestations consistent with Costello syndrome is presented. The clinical study and description of his physical characteristics were performed, detecting as main distinctive features: storage disease-like phenotype, failure to thrive, congenital heart disease, coarse facies, mental retardation and humorous personality. Early diagnosis allows early stimulation and intervention, active screening for tumor lesions, as well as provision of genetic counselling to patients.

  20. Digeorge syndrome: A case report

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    Popović-Deušić Smiljka

    2011-01-01

    Full Text Available Introduction. DiGeorge syndrome is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart disease, absence or hypoplasia of thymus (with consecutive immunodeficiency and infections, hypoparathyroidism with consecutive hypocalcaemia, gastrointestinal problems, Delayed psychomotor development, abnormalities of head and face, tendency to develop seizures and psychiatric disorders. Syndrome can be detected prenatally, or during early development, which is of great importance for preventive and therapeutic measures. Death rate is high during the first year of life, mostly because of congenital heart disease. With prompt diagnosis and treatment most of the children can survive to adulthood, but they are children with special needs requiring continual care and supervision (because of metal retardation, seizures, neurological and psychiatric disorders. Case Outline. A seven-year-old boy underwent surgical correction of congenital heart disease soon after the birth. Since the age of four years he developed seizures, partially controlled by antiepileptic therapy. Entering the seventh year of age he displayed severe auto and heteroaggressive behaviour. His condition has improved by the introduction of intensive psychiatric and defectological treatment, and daily counselling with his mother the child improved in the sense of calming down, better social communication and acquiring some self-help specific skills. Conclusion. Symptoms of DiGeorge syndrome can be detected soon after the birth, especially that concerning congenital hearth disease. A prompt diagnosis and surgical intervention can save the child’s life. Because of many other symptoms, many diagnostic procedures focused on this syndrome are to be performed, followed by long lasting stimulative treatment and treatment of seizures and psychiatric disorders.

  1. Eagle syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Nilüfer Ersan

    2016-01-01

    Full Text Available INTRODUCTION: Eagle syndrome, an uncommon sequela of elongation of the styloid process or calcification of the stylohyoid ligament, can manifest as pain in the face and the anterolateral neck, often with referred pain to the ear and the temporomandibular joint area. CASE REPORT: A 43-year-old female patient presented to the Dentomaxillofacial Radiology Department with complaints of unremitting unilateral facial and neck pain, limitation in the movement of the neck, sensation of foreign body in the throat, dysphagia, and otalgia for a year. Systemic anamnesis of the patient was unremarkable. In the clinical examination, digital palpation of the tonsillar fossa aggravated the pain. The patient was being treated for temporomandibular joint disorder. A panoramic radiograph taken after the clinical examination revealed bilateral styloid process elongation. Cone-beam computed tomography also revealed bilateral ossification of the stylohyoid ligament which was measured as 71.5 mm and 69.6 mm on the right and the left side, respectively; and the patient was diagnosed as having Eagle syndrome. The patient was referred to the otolaryngology clinic for surgical treatment. Surgical shortening of the structure provided definitive relief in the patient's symptoms. CONCLUSION: In cases of unexplained complaints in the head and neck region Eagle syndrome should be considered in the differential diagnosis as it may change the treatment approach.

  2. [A paraneoplastic Sharp syndrome reversible after resection of a benign schwannoma: a paraneoplastic syndrome?].

    Science.gov (United States)

    Slimani, S; Sahraoui, M; Bennadji, A; Ladjouze-Rezig, A

    2014-08-01

    Paraneoplastic syndromes commonly occur in malignancies and often precede the first symptoms of the tumor. By definition, paraneoplastic syndromes are only associated with malignancies although some exceptions have been reported, occurring with benign tumors. We report a patient presenting with a clinical and serological Sharp syndrome, followed a few months later by a cervical schwannoma. Curative surgical resection of the mass resulted in a clinical and serological healing from the Sharp syndrome. To our knowledge, this is the first report of a benign schwannoma complicated by a possible paraneoplastic Sharp syndrome.

  3. Takotsubo syndrome and brachydactyly: a new heart-hand syndrome?

    Science.gov (United States)

    Danese, C; Bocchini, S; Rubini, G; Nardi, M; Amato, S

    2011-01-01

    The Takotsubo syndrome (TTS) is a transient myocardic hypoadyskinesis so called for its typically aspect like the cages used by Japanese fisherman to trap octopus. Presently, several etiologies were considered for the development of TTS, the most accredited ones suggest that stress, adrenoreceptor hyperactivity and estrogens are the most important causes of transient morphofunctional alterations of left ventricle. We describe the case of 60 year-old woman with a chest pain occurred after a quarrel. Because of this, she went to the Emergency Department (ED) where T wave flat in lead D-I, increase of CK-MB mass and Troponin I were found. Subsequently, a coronary-ventriculography was performed and a diagnosis of Takotsubo syndrome was made. Also a bilateral IV toe brachydactyly was noted. In medical literature, there are many syndromes described about the association between skeletal alteration of the hands and heart abnormalities (heart-hand syndrome). The Authors wonder if this case can belong to this kind of complex malformations as well as if a molecular-genetic trait can link the two clinical aspects.

  4. Mirizzi's syndrome: a diagnostic dilemma.

    Science.gov (United States)

    Masih, I N; Moorehead, R J; Caddy, G R

    2011-12-01

    A 62-year-old male presented with a history of upper abdominal discomfort. Past history included asymptomatic gallstones. Abdominal ultrasound and CT demonstrated gallstones within a thick-walled gallbladder, and intra and extrahepatic duct dilatation. Endoscopic retrograde cholangiopancreatography (ERCP) revealed a stricture within the mid-portion of the common bile duct. At laparotomy, a single large stone was found causing external compression of the common bile duct causing a Mirizzi's-type stricture. At repeat ERCP, cholangiogram showed no evidence of stricture. Clinicians should be aware that no definite clinical signs distinguish Mirizzi's syndrome and surgical exploration is often required for diagnosis.

  5. Compartment Syndrome as a Result of Systemic Capillary Leak Syndrome

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    Kwadwo Kyeremanteng

    2016-01-01

    Full Text Available Objective. To describe a single case of Systemic Capillary Leak Syndrome (SCLS with a rare complication of compartment syndrome. Patient. Our patient is a 57-year-old male, referred to our hospital due to polycythemia (hemoglobin (Hgb of 220 g/L, hypotension, acute renal failure, and bilateral calf pain. Measurements and Main Results. The patient required bilateral forearm, thigh, and calf fasciotomies during his ICU stay and continuous renal replacement therapy was instituted following onset of acute renal failure and oliguria. Ongoing hemodynamic (Norepinephrine and Milrinone infusion and respiratory (ventilator support in the ICU was provided until resolution of intravascular fluid extravasation. Conclusions. SCLS is an extremely rare disorder characterized by unexplained episodic capillary hyperpermeability, which causes shift of volume and protein from the intravascular space to the interstitial space. Patients present with significant hypotension, hemoconcentration, hypovolemia, and oliguria. Severe edema results from leakage of fluid and proteins into tissue. The most important part of treatment is maintaining stable hemodynamics, ruling out other causes of shock and diligent monitoring for complications. Awareness of the clinical syndrome with the rare complication of compartment syndrome may help guide investigations and diagnoses of these critically ill patients.

  6. Triple A Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Murat Atmaca

    2014-09-01

    Full Text Available Triple A syndrome is a rarely seen autosomal recessive disease characterized by achalasia, adrenal failure and alacrima. The syndrome is frequently seen in childhood. The appearance of its components are usually ordered as alacrima, achalasia and adrenal failure. The majority of the patients diagnosed in the later stages predominantly present with neurological symptoms. In this study, a 21-year-old male who was referred to our clinic with clinical findings of chronic adrenal failure and was diagnosed WİTH triple A syndrome is presented. This patient had been operated three years ago due to achalasia. The diagnosis and treatment of adrenal failure in this syndrome is the most important determinant and indicator in the prognosis of the disease. Turk Jem 2014; 18: 97-99

  7. [Klinefelter's syndrome and Turner's syndrome. For a better management].

    Science.gov (United States)

    Pienkowski, C; Cartault, A; Caula-Legriel, S; Ajaltouni, Z; Daudin, M; Tauber, M

    2011-09-01

    Klinefelter's syndrome (KS) affects one in 600 men and Turner's syndrome (TS), one in 2500 women. These 2 diseases are the most sex chromosome disorders characterized by one extra X in the SK male (47XXY) and the loss of an X in the girls with ST (45 X). Their common characteristic is the gonadal dysgenesis, which is the main cause of male or female infertility. Called "the forgotten syndrome", KS is under-diagnosed because apart from the large size, there are no dysmorphic features, along with a great ignorance of cognitive and language disorders in children. There are often comorbidities that lead to diagnosis such as autoimmune diseases or metabolic syndrome. TS is often diagnosed by the short stature. Management of Turner's girls has profoundly changed with Growth hormone therapy. There is an international consensus for a better management of associated diseases such as ORL, cardiac, renal, hepatic, autoimmune and metabolic diseases. Prenatal diagnosis allows early detection and management of cognitive deficiencies and of associated diseases.

  8. Refeeding Syndrome: A Literature Review

    Directory of Open Access Journals (Sweden)

    L. U. R. Khan

    2011-01-01

    Full Text Available Refeeding syndrome (RFS describes the biochemical changes, clinical manifestations, and complications that can occur as a consequence of feeding a malnourished catabolic individual. RFS has been recognised in the literature for over fifty years and can result in serious harm and death. Crude estimates of incidence, morbidity, and mortality are available for specific populations. RFS can occur in any individual but more commonly occurs in at-risk populations. Increased awareness amongst healthcare professionals is likely to reduce morbidity and mortality. This review examines the physiology of RFS and describes the clinical manifestations. A management strategy is described. The importance of a multidisciplinary approach is emphasized.

  9. Refeeding syndrome: a literature review.

    Science.gov (United States)

    Khan, L U R; Ahmed, J; Khan, S; Macfie, J

    2011-01-01

    Refeeding syndrome (RFS) describes the biochemical changes, clinical manifestations, and complications that can occur as a consequence of feeding a malnourished catabolic individual. RFS has been recognised in the literature for over fifty years and can result in serious harm and death. Crude estimates of incidence, morbidity, and mortality are available for specific populations. RFS can occur in any individual but more commonly occurs in at-risk populations. Increased awareness amongst healthcare professionals is likely to reduce morbidity and mortality. This review examines the physiology of RFS and describes the clinical manifestations. A management strategy is described. The importance of a multidisciplinary approach is emphasized.

  10. A CASE OF FAHR'S SYNDROME

    Directory of Open Access Journals (Sweden)

    Ishan

    2015-08-01

    Full Text Available Fahr's disease , also known as familial cerebral ferrocalcinosis disorder characterized by abnormal calcium deposition the disease was first noted by German neurologist. Karl Theodre Fahr . [1] in 1930 It is a rare genetically . [2] dominant neurological disorder with less than 20 families had been reported . We present a case of a 50 year old Male a resident of Akurli , New panvel , Raigad with history of trauma 12 years back and history of loss of consciousness on two occasions with an interval of four years each to trauma , no other significant history of metabolic disease , infection or toxic diseases . KEYWORDS: Fahr's Syndrome .

  11. 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.

  12. 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.

  13. Indiscretion enteritis. A Rabelaisian syndrome.

    Science.gov (United States)

    Robin, E D; Collins, J; Burke, C

    1986-12-01

    A 76-year-old man had small bowel obstruction and organic small bowel disease following a series of bizarre massive gustatory insults that involved food, medications, and mega-mineral-vitamin supplements. Intestinal obstruction required partial small bowel resection. The dietary indiscretions resulted in severe enteritis (indiscretion enteritis). The sequence has been termed a Rabelaisian syndrome after the great French writer and physician, Francois Rabelais, who vividly described bizarre gustatory habits. Gut injury may result from unwise oral intake of various foods and mineral supplements.

  14. RABSON-MENDENHALL SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Mohammad Reza ALAEI

    2010-06-01

    Full Text Available Rabson-Mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this is the first report of the Rabson-Mendenhall syndrome from Iran.

  15. Fetal Alcohol Syndrome a Global Problem

    Science.gov (United States)

    ... https://medlineplus.gov/news/fullstory_163096.html Fetal Alcohol Syndrome a Global Problem: Report Countries with highest alcohol use during pregnancy include Belarus, Britain, Denmark, Ireland ...

  16. A new case of MOMO syndrome.

    Science.gov (United States)

    Wallerstein, Robert; Sugalski, Rachel D

    2010-01-01

    MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmental issues, delayed bone age, clavicular pseudoarthrosis, and straight femurs. We believe that this child should be considered as having MOMO syndrome. Careful consideration of his facial features shows some overlap with Kabuki syndrome. Description of this case may help to better elucidate the clinical features of MOMO syndrome.

  17. Sarcopenia, a Neurogenic Syndrome?

    Directory of Open Access Journals (Sweden)

    Ping Kwan

    2013-01-01

    Full Text Available Sarcopenia is an aging-associated condition, which is currently characterized by the loss of muscle mass and muscle strength. However, there is no consensus regarding its characterization hitherto. As the world older adult population is on the rise, the impact of sarcopenia becomes greater. Due to the lack of effective treatments, sarcopenia is still a persisting problem among the global older adults and should not be overlooked. As a result, it is vital to investigate deeper into the mechanism underlying the pathogenesis of sarcopenia in order to develop more effective therapeutic interventions and to inscribe a more uniform characterization. The etiology of sarcopenia is currently found to be multifactorial, and most of the pharmacological researches are focused on the muscular factors in aging. Although the complete mechanism underlying the development of sarcopenia is still waiting to be elucidated, we propose in this article that the primary trigger of sarcopenia may be neurogenic in origin based on the intimate relationship between the nervous and muscular system, namely, the motor neuron and its underlying muscle fibers. Both of them are affected by the cellular environment and their physiological activity.

  18. MLASA SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    R. Fallah

    2007-02-01

    Full Text Available AbstractMitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. The association between myopathy and sideroblastic anemia was initially reported in 1974. Here we report an 8.5 year old boy with normal cognitive function, suffering from chronic progressive weakness in his lower extremities, inability to walk and palor. Microcytic sideroblastic anemia, mild lactic acidosis and inflammatory myopathy (myositis in muscle biopsy was detected and treated; the response to corticosteroid therapy and rehabilitation was excellent and the patient was ambulatory after four months.

  19. MLASA SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    R. Fallah

    2008-11-01

    Full Text Available Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. The association between myopathy and sideroblastic anemia was initially reported in 1974. Here we report an 8.5 year old boy with normal cognitive function, suffering from chronic progressive weakness in his lower extremities, inability to walk and palor. Microcytic sideroblastic anemia, mild lactic acidosis and inflammatory myopathy (myositis in muscle biopsy was detected and treated; the response to corticosteroid therapy and rehabilitation was excellent and the patient was ambulatory after four months.Keywords:Sideroblastic anemia, Mitochondrial myopathy, Lactic acidosis

  20. Subclinical Cushing syndrome: a review.

    Science.gov (United States)

    Starker, Lee F; Kunstman, John W; Carling, Tobias

    2014-06-01

    Owing to its diagnostic challenges, subclinical Cushing syndrome (SCS) is likely to be highly underdiagnosed and undertreated, and the overall incidence may be as high as 5% to 20% in patients with adrenal incidentalomas. The diagnosis can be established by a systematic and thorough biochemical evaluation. SCS has been associated with significant morbidity, which at least partly may be reversed by surgery. Given the low rates of complications and the possibility to reverse the detrimental effects of elevated cortisol secretion, minimally invasive adrenalectomy is recommended for patients with biochemically proven or suspected SCS who are appropriate surgical candidates. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. HAGLUND SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Indira

    2015-07-01

    Full Text Available Haglund Syndrome is one of the causes of posterior heel pain. It is the inflammation of the tendoachilles at the calcaneal insertional site and the regional soft tissues. It comprises of insertional Achilles tendinopathy, retrocalcaneal & retroachilles bursitis and posterior calcaneal bony spur. Imaging plays a very important role in the diagnosis as it can be mimicked by several other conditions like isolated retrocalcaneal bursitis, enthesopathies and accessory soleus muscle. Though plain radiograph is the initial modality of investigation, MRI is preferred as it offers superior soft tissue contrast resolution and accurate diagnosis.

  2. Eagle’s Syndrome: A case report

    OpenAIRE

    Yusuf Ziya Akpınar; , Betül Yılmaz; Numan Tatar; Zülfikar Demirtağ

    2014-01-01

    Eagle’s syndrome result from elongation of styloid process or mineralization of styloid ligament. Eagle’s syndrome include symptoms such as  foreign body sensation, pain in the area of tonsillar fossa, pain which spreading toward ear. Diagnosis of Eagle’s syndrome can usually be made on physical examination by digital palpation of the styloid process in the tonsiller fossa. The treatment of Eagle’s syndrome is primarily surgical. In this article, we presented a 57-year-old male patient who wa...

  3. Antiphospholipid syndrome: A diagnostic challenge.

    Science.gov (United States)

    Mallhi, R S; Kushwaha, Neerja; Chatterjee, T; Philip, J

    2016-12-01

    The antiphospholipid syndrome (APS) is an acquired autoimmune thrombophilic disorder that is characterized by thrombosis (venous, arterial and microvascular) and obstetric morbidity due to a diverse family of antibodies against phospholipid-binding proteins present in plasma. The term antiphospholipid antibody is actually a misnomer as the antibodies are not against the phospholipid per se, but target the plasma protein co-factors, which bind to anionic PLs. The exact etiology has not been elucidated and is multifactorial. The initial guidelines for the diagnosis of APS were laid down in Sapporo, 1999, which were subsequently revised as the Sydney Consensus Conference criteria in 2006. Major changes were the inclusion of β2GPI as independent laboratory criteria, addition of ischemic stroke and transient cerebral ischemia as established clinical criteria and the requirement of repeating the test after 12 weeks. The laboratory tests recommended are coagulation assays, which study the effect of lupus anticoagulant on the clotting time and immunological assays, mostly ELISAs to detect IgG and IgM antibodies against cardiolipin and/or β2 glycoprotein I. For the diagnosis of APS, at least one clinical criterion and one laboratory criterion should be present. Limitations pertaining to the standardization, reproducibility and robustness of the currently recommended diagnostic tests still remain. Despite elaborate guidelines and syndrome defining criteria, the diagnosis of APS still remains a challenge. A greater interaction between the clinicians and the laboratory professionals is necessary for arriving at the correct diagnosis as a misdiagnosis of APS can have grave consequences.

  4. Goodpasture's syndrome: a clinical update.

    Science.gov (United States)

    Greco, Antonio; Rizzo, Maria Ida; De Virgilio, Armando; Gallo, Andrea; Fusconi, Massimo; Pagliuca, Giulio; Martellucci, Salvatore; Turchetta, Rosaria; Longo, Lucia; De Vincentiis, Marco

    2015-03-01

    Goodpasture's syndrome (GS) is a rare and organ-specific autoimmune disease that is mediated by anti-glomerular basement membrane (anti-GBM) antibodies and has pathology characterized by crescentic glomerulonephritis with linear immunofluorescent staining for IgG on the GBM. It typically presents as acute renal failure caused by a rapidly progressive glomerulonephritis, accompanied by pulmonary hemorrhage that may be life-threatening. It was first described as a distinctive syndrome by Pasture in 1919. Autoimmune Inner Ear Disease (AIED) may be associated. The etiology of GS is unknown. Researchers hypothesized a genetic predisposition HLA-associated. Complex immunological mechanisms are in the pathogenesis. The disease is caused by autoantibodies against the NC1 domain of the alpha 3 chain of type IV collagen. The limited presence of this molecule in the body explains the interest confined to specific target organs, such as the lung and kidney. It occurs when the immune system attacks the walls of the lungs and the tiny filtering units in the kidneys. Without prompt diagnosis and treatment, the disease can lead to bleeding in the lungs, kidney failure, and even death. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. Ovarian hyperstimulation syndrome in a spontaneous pregnancy ...

    African Journals Online (AJOL)

    Ovarian hyperstimulation syndrome in a spontaneous pregnancy with invasive mole: report of a case. ... Pan African Medical Journal ... in the case of multiple gestations, hypothyroidism or polycystic ovary syndrome. We report a case of severe OHSS in spontaneous pregnancy with invasive mole in a 34 years old woman.

  6. Stiff person syndrome: a case report.

    Science.gov (United States)

    Kelly, Patricia A; Kuberski, Carolyn

    2014-08-01

    The case report features a patient who had a diagnosis of a common type of breast cancer with an uncommon neurologic syndrome. She had extreme pain and progressive stiffness with cognitive and functional decline. This article includes the pathogenesis and treatment options for a rare, but treatable, autoimmune disorder of malignancy called stiff person syndrome.

  7. Neuroleptic malignant syndrome: a preventive program.

    Science.gov (United States)

    Fernando, M L; Manchanda, R; Kirk, C

    1992-03-01

    Neuroleptic Malignant Syndrome is a very serious side effect of antipsychotic medications. The paper describes a preventative program which was instituted in an inpatient unit of a provincial psychiatric hospital. There have been no mortalities from Neuroleptic Malignant Syndrome (NMS) during this program. A suspicion of NMS by clinical evaluation and laboratory tests resulted in prompt management. The recommended management plan is described.

  8. RESISTANT HYPERTENSION IN A PATIENT WITH METABOLIC SYNDROME

    OpenAIRE

    O. M. Drapkina; J. S. Sibgatullina

    2016-01-01

    Clinical case of resistant hypertension in a patient with metabolic syndrome is presented. Features of hypertension in metabolic syndrome and features of metabolic syndrome in women of pre- and postmenopausal age are also considered. Understanding the features of metabolic syndrome in women, as well as features of hypertension and metabolic syndrome will improve the results of treatment in patients with resistant hypertension.

  9. Genetics Home Reference: type A insulin resistance syndrome

    Science.gov (United States)

    ... disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome , are considered part of a spectrum. Type ... of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 ...

  10. Treacher Collins syndrome: a case report.

    Science.gov (United States)

    Mohan, Ravi Prakash Sasankoti; Verma, Sankalp; Agarwal, Neha; Singh, Udita

    2013-05-24

    Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome.

  11. Gorlin's Syndrome-A case report

    OpenAIRE

    Arun Gupta ,Vijay Suri,Yudhvir Gupta

    2000-01-01

    Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. Most commonphenotypic expression of this syndrome is a basal cell carcinoma (BCC). It is characterized bymultiple skin lesions on head and neck region. We present a case of49 year old male who presentedwith basal cell carcinoma at multiple sites simultaneously.

  12. Papillon-Lefevre syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Subramaniam P

    2008-01-01

    Full Text Available Papillon-Lefevre syndrome is a rare autosomal recessive genetic disorder. The clinical manifestations include palmer planter hyperkeratosis with precocious progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age. This is a case report of prosthodontic rehabilitation of a 15-year-old girl with Papillon-Lefevre syndrome.

  13. Pure Gerstmann's syndrome from a focal lesion.

    Science.gov (United States)

    Roeltgen, D P; Sevush, S; Heilman, K M

    1983-01-01

    It is controversial whether a focal lesion can specifically induce Gerstmann's syndrome (dyscalculia, left-right disorientation, finger agnosia, and agraphia). Also, Gerstmann's tetrad has been attributed to other cerebral symptoms, particularly aphasia. We examined a patient who had all four symptoms of Gerstmann's syndrome, without other symptoms or signs, and who had a discrete left parietal lesion.

  14. Gitelman's syndrome: a rare presentation mimicking cauda equina syndrome.

    LENUS (Irish Health Repository)

    Quinlan, C S

    2012-02-01

    We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman\\'s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation was altered. However, MRI of the lumbar spine was normal. Measurements of serum and urinary potassium were low and blood gas analysis revealed metabolic alkalosis. Her symptoms resolved following potassium replacement. We emphasise the importance of measurement of the plasma and urinary levels of electrolytes in the investigation of patients with paralysis of the lower limbs and suggest that they, together with blood gas analysis, allow the exclusion of unusual causes of muscle weakness resulting from metabolic disorders such as metabolic alkalosis.

  15. Antenatal Bartter Syndrome: A Review

    Directory of Open Access Journals (Sweden)

    Y. Ramesh Bhat

    2012-01-01

    Full Text Available Antenatal Bartter syndrome (ABS is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS.

  16. Trigeminal trophic syndrome: A rare entity

    Directory of Open Access Journals (Sweden)

    Sunil N Mishra

    2011-01-01

    Full Text Available Trigeminal trophic syndrome is a rare condition resulting from self-manipulation of the skin after a peripheral or central injury to the trigeminal system. The syndrome consists of a classic triad of anaesthesia, paraesthesia, and a secondary persistent or recurrent facial ulceration. We describe a 60 year-old woman who developed this syndrome as a sequel to the gasserian ganglion block for trigeminal neuralgia. She had also developed melasma within 1 year. A remarkable benefit was achieved by proper patient education and topical antibiotics which led to the healing of all ulcerations within 4 weeks. In the case reported here, the diagnosis of the trigeminal trophic syndrome was made primarily as a result of the physician′s experience with the syndrome previously.

  17. [Acute carpal tunnel syndrome in a patient with Marfan syndrome].

    Science.gov (United States)

    Franke, J; Wenzel, W; Rehfuss, D; Keiner, H P; Manncke, K

    2008-05-01

    Acute carpal tunnel syndrome (ACTS) is rare and is mostly the result of fractures of the distal radius or the carpal bones. This paper gives the first report of an ACTS following contusion of the wrist as the result of an extensive haematoma of the flexor tendon sheath, which did not appear until 50 hours after the injury was sustained but then developed rapidly. The patient suffers from Marfan syndrome. This disease is associated with pathologic changes to the major vessels, and especially the aorta, and of the smaller peripheral vessels. It is assumed that the haematoma arose from an aneurysm of such a small vessel. The treatment of choice in ACTS is emergency incision of the carpal tunnel.

  18. A family with the testicular feminisation syndrome.

    Science.gov (United States)

    Nevin, N C; Willis, J; Magee, R A; Adam, W A

    1976-12-01

    A family of three sibs with the complete testicular feminisation syndrome is reported. The patient's mother had features, namely, sparse public and axillary hair, of the carrier state and a maternal aunt had primary amenorrhoea. The pathology of six gonads is described and the risk of tumour formation discussed. The possible mode of inheritance of the syndrome is reviewed.

  19. Understanding Asperger Syndrome: A Professor's Guide [DVD

    Science.gov (United States)

    Organization for Autism Research (NJ3), 2011

    2011-01-01

    College can be a trying time in any individual's life. For adults with Asperger Syndrome this experience can be overwhelming. This title in the new DVD series Asperger Syndrome and Adulthood focuses on educating professors, teaching assistants, and others on what it means to be a college student on the spectrum and how they might best be able to…

  20. Understanding Asperger Syndrome: A Professor's Guide [DVD

    Science.gov (United States)

    Organization for Autism Research (NJ3), 2011

    2011-01-01

    College can be a trying time in any individual's life. For adults with Asperger Syndrome this experience can be overwhelming. This title in the new DVD series Asperger Syndrome and Adulthood focuses on educating professors, teaching assistants, and others on what it means to be a college student on the spectrum and how they might best be able to…

  1. Popliteal Pterygium Syndrome: A Rare Entity

    Directory of Open Access Journals (Sweden)

    Muhammad Qasim

    2012-02-01

    Full Text Available The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder. We report one family with popliteal pterygium syndrome affecting father and his two daughters, who underwent surgical corrections for multiple congenital malformations.

  2. Pierre Robin syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Richa Gupta

    2015-11-01

    Full Text Available Pierre Robin syndrome is characterized by micrognathia, glossoptosis and palatal malformation. We report a case of a 6 day neonate who presented with complaints of feeding and respiratory difficulty and was later diagnosed as case of Pierre Robin syndrome. [Int J Res Med Sci 2015; 3(11.000: 3432-3434

  3. Meckel Gruber Syndrome--a case report.

    Science.gov (United States)

    Desai, S R; Wader, J V

    2004-07-01

    Meckel Gruber Syndrome is a rare syndrome inherited as Mendelian autosomal recessive condition. The affected infant usually has a large occipital encephalocoele associated with renal cysts and sometimes polydactyly. The prognosis is poor. The affected child is still born or dies early in infancy. If diagnosis is done by prenatal ultrasound examination termination of pregnancy can be done.

  4. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  5. Neurocutaneous syndrome: A prospective study

    Directory of Open Access Journals (Sweden)

    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

  6. Styloid syndrome: A review of literature

    Directory of Open Access Journals (Sweden)

    Petrović Branko

    2008-01-01

    Full Text Available The American otolaryngologist Eagle was the first to describe styloid syndrome in 1937. Stylohyoid complex is composed of styloid process, stylohyoid ligament and a lesser horn of the hyoid bone. Embriologicaly, these anatomical structures originate from Reichert's cartilage of the second brachial arch. In the general population, the frequency of the elongated styloid process is estimated to be 4%, of which only 4% show clinical manifestations suggesting that the incidence of styloid syndrome is 0.16% (about 16,000 persons in Serbia. The styloid process deviation causes external or internal carotid impingement and pains which radiate along the arterial trunk. Classical stylohyoid syndrome is found after tonsillectomy and is characterized by pharyngeal, cervical, facial pain and headache. Stylo-carotid syndrome is the consequence of the pericarotid sympathetic fibres irritation and compression on the carotid artery. Clinical manifestations are found most frequently after head turning and neck compression. The diagnostic golden standard for styloid syndrome is 3D CT reconstruction. Sagital CT angiography has a leading role in the radiological diagnosis of the stylo-carotid syndrome. Differential diagnosis requires the differentiation of the styloid syndrome from numerous cranio-facio-cervical painful syndromes. If conservative treatment (analgesics, anticonvulsants, antidepressants, and local infiltration with steroids or anaesthetic agents has no effect, surgical treatment is applied. Styloid syndrome is underrepresented in neurological literature. The syndrome is considered important, because it is clinically similar to many other painful cranio-facial syndromes; it is difficult to be recognized, and the patient should be treated adequately.

  7. Goldenhar Syndrome: A Case Report with Review

    Science.gov (United States)

    Goswami, Mridula; Jangra, Babita

    2016-01-01

    Goldenhar syndrome is a rare condition which is characterized by a multitude of anomalies involving craniofacial structures, vertebrae, internal organs and usually occurs unilaterally. The etiology of this syndrome is unclear since it varies genetically and is linked to a plethora of reasons. Herein, we report a case of Goldenhar syndrome with hemifacial microsomia and microtia along with systemic involvement which was clinically and radio-graphically assessed. Many classical signs of the syndrome were present in the patient along with few rare ones. The various aspects of this rare disease have been discussed with emphasis on timely diagnosis and multidisciplinary approach to manage it. How to cite this article Goswami M, Bhushan U, Jangra B. Goldenhar Syndrome: A Case Report with Review. Int J Clin Pediatr Dent 2016;9(3):278-280. PMID:27843263

  8. Concurrent Van der Woude syndrome and Turner syndrome: A case report

    Science.gov (United States)

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history. PMID:28228961

  9. Concurrent Van der Woude syndrome and Turner syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Evan Los

    2017-01-01

    Full Text Available Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  10. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    Science.gov (United States)

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  11. Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome.

    Science.gov (United States)

    Lee, Kyung Yeon; Lee, Kun-Soo; Weon, Young Cheol

    2013-12-01

    Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down syndrome with multiple neurologic conditions is rare. Here, we have reported a case of Down syndrome in a 10-year-old girl who presented with asymptomatic moyamoya syndrome, atlantoaxial subluxation with spinal cord compression, and basal ganglia calcification. To the best of our knowledge, this is the first report of Down syndrome, in a child, which was accompanied by these 3 neurologic complications simultaneously. As seen in this case, patients with Down syndrome may have neurologic conditions without any obvious neurologic symptoms; hence, patients with Down syndrome should be carefully examined for the presence of neurologic conditions.

  12. Rett syndrome: a study of the face

    NARCIS (Netherlands)

    J.E. Allanson; R.C.M. Hennekam; U. Moog; E.E. Smeets

    2011-01-01

    Rett syndrome is a unique disorder of neurodevelopment that is characterized by an evolving behavioral and developmental phenotype, which emerges after an apparently normal early infantile period. It almost exclusively affects females. The face of Rett syndrome is said to resemble that of Angelman s

  13. Towards a Behavioral Phenotype for Rett Syndrome.

    Science.gov (United States)

    Mount, Rebecca H.; Hastings, Richard P.; Reilly, Sheena; Cass, Hilary; Charman, Tony

    2003-01-01

    A study compared 143 girls (ages 6-14) with Rett syndrome with 85 girls with severe mental retardation on the Developmental Behavior Checklist. Girls with Rett syndrome presented more "autistic relating" and fewer antisocial behaviors. When compared to children with autism, they did not present with classic autistic behavioral features. (Contains…

  14. Treacher Collins syndrome: a case study.

    Science.gov (United States)

    Chung, Jenny Y; Cangialosi, Thomas J; Eisig, Sidney B

    2014-11-01

    Treacher Collins syndrome is a disorder of craniofacial development with high penetrance and variable expressivity. Its incidence is approximately 1 in 50,000 live births. In this article, we describe the orthodontic treatment of an 11-year-old boy with Treacher Collins syndrome.

  15. DUMPING SYNDROME IN A YOUNG-CHILD

    NARCIS (Netherlands)

    DEVRIES, TW; DODDEMA, JW; HEIJMANS, HSA

    1995-01-01

    We describe a 17-month-old child with dumping syndrome after plication of the right diaphragm. He presented with periods of abdominal distension and pallor, recurrent convulsions, glucosuria and refusal of Feeding. After changing the diet the symptoms disappeared. Conclusion Although dumping syndrom

  16. Cognitive Phenotype of Velocardiofacial Syndrome: A Review

    Science.gov (United States)

    Furniss, Frederick; Biswas, Asit B.; Gumber, Rohit; Singh, Niraj

    2011-01-01

    The behavioural phenotype of velocardiofacial syndrome (VCFS), one of the most common human multiple anomaly syndromes, includes developmental disabilities, frequently including intellectual disability (ID) and high risk of diagnosis of psychotic disorders including schizophrenia. VCFS may offer a model of the relationship between ID and risk of…

  17. Bruck syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Дмитрий Степанович Буклаев

    2015-09-01

    Full Text Available The article describes the clinical case of an infant with Bruck syndrome. The clinical and radiological analyses showed the presence of systemic osteoporosis with pathological fractures; contractures of the elbow, knee, and ankle joints; delay of physical and motor development; and signs of hypoplasia in some of the muscle groups. There was also a right-sided congenital muscular torticollis. X-ray analysis revealed a moderate antecurvation deformity of the lower legs and femurs, with cortical thinning. Laboratory data detected an abnormal beta-cross lap increase.Treatment of osteoporosis by inhibitors of osteoclastic resorption (pamidronate had a positive effect, and the elimination of flexion contractures at the elbow using plaster bandages with the distraction device also resulted in a positive effect.

  18. [Restless legs syndrome - a review].

    Science.gov (United States)

    Sveinsson, Olafur Arni; Sigurdsson, Albert Pall

    2012-01-01

    Restless legs syndrome (RLS) is a common disorder with a prevalence between 10-20% in Iceland. There are two forms of RLS, idiopathic and secondary. Symptom onset of RLS before the age of 45 suggests an idiopathic form with no known underlying cause but inheritance. Symptom onset after age of 45 indicates a secondary form with an underlying cause without inheritance. Causes for secondary forms are for example: iron depletion, uraemia and polyneuropathy. Symptoms of RLS are uncomfortable and unpleasant deep sensations in the legs that are felt at rest, accompanied by an urge to move the legs, typically just before sleep. Accompanying RLS is a sleep disturbance that can lead to daytime somnolence, decreased quality of life, poor concentration, memory problems, depression and decreased energy. Dopamine agonists are currently the first line treatment for RLS. restless legs, periodic limb movements, sleep disturbance, dopamine agonists.

  19. A human neurodevelopmental model for Williams syndrome.

    Science.gov (United States)

    Chailangkarn, Thanathom; Trujillo, Cleber A; Freitas, Beatriz C; Hrvoj-Mihic, Branka; Herai, Roberto H; Yu, Diana X; Brown, Timothy T; Marchetto, Maria C; Bardy, Cedric; McHenry, Lauren; Stefanacci, Lisa; Järvinen, Anna; Searcy, Yvonne M; DeWitt, Michelle; Wong, Wenny; Lai, Philip; Ard, M Colin; Hanson, Kari L; Romero, Sarah; Jacobs, Bob; Dale, Anders M; Dai, Li; Korenberg, Julie R; Gage, Fred H; Bellugi, Ursula; Halgren, Eric; Semendeferi, Katerina; Muotri, Alysson R

    2016-08-18

    Williams syndrome is a genetic neurodevelopmental disorder characterized by an uncommon hypersociability and a mosaic of retained and compromised linguistic and cognitive abilities. Nearly all clinically diagnosed individuals with Williams syndrome lack precisely the same set of genes, with breakpoints in chromosome band 7q11.23 (refs 1-5). The contribution of specific genes to the neuroanatomical and functional alterations, leading to behavioural pathologies in humans, remains largely unexplored. Here we investigate neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells. Neural progenitor cells in Williams syndrome have an increased doubling time and apoptosis compared with typically developing neural progenitor cells. Using an individual with atypical Williams syndrome, we narrowed this cellular phenotype to a single gene candidate, frizzled 9 (FZD9). At the neuronal stage, layer V/VI cortical neurons derived from Williams syndrome were characterized by longer total dendrites, increased numbers of spines and synapses, aberrant calcium oscillation and altered network connectivity. Morphometric alterations observed in neurons from Williams syndrome were validated after Golgi staining of post-mortem layer V/VI cortical neurons. This model of human induced pluripotent stem cells fills the current knowledge gap in the cellular biology of Williams syndrome and could lead to further insights into the molecular mechanism underlying the disorder and the human social brain.

  20. Cornelia De Lange Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hojatollah Mortezaian

    2009-12-01

    Full Text Available Cornelia de Lange syndrome (CdLS is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. The diagnosis of this syndrome is clinical. The patient of the present case report was the second case of CdLS from Iran; only a few cases of CdLS have thus far been reported from countries outside Europe and North America. Reporting CdLS cases of different ethnic backgrounds can add nuances to the phenotypic description of the syndrome and be helpful in diagnosis. Furthermore, an increased awareness of this syndrome may result in an early diagnosis and a decrease in morbidity.

  1. Treacher Collins syndrome: a case review.

    Science.gov (United States)

    Jensen-Steed, Ginger

    2011-12-01

    Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 loci. While common facies and phenotype can be described with this syndrome, the gene has a wide variation of expressivity, thus making the diagnosis of mild cases challenging. This study involves a term female diagnosed with Treacher Collins syndrome, who was also diagnosed with Tracheal Esophageal Fistula. She is expected to be of normal intelligence but, as is typical for Treacher Collins syndrome, has conductive hearing loss and therefore is at risk for developmental delay. This article describes her hospital course and outcomes thus far and is intended to guide the bedside practitioner in recognition and guidance of families in the future.

  2. [Asperger syndrome - a fashionable diagnosis?].

    Science.gov (United States)

    Haker, Helene

    2014-10-01

    The Asperger Syndrome is - in contrast to early childhood autism - a disorder at the lighter end of the autism spectrum. Although first described in 1943, it was included in the ICD-10 not before 1992. The knowledge about this lighter autistic disorder spread only slowly. The increasing prevalence rates can be explained by the increased knowledge about this disorder and the growing clinical experience. In contrast to the public that gives repeated medial attention to it, and to would-be affected who seem to see an attractive excuse for social problems in an Asperger diagnosis, many psychiatrists appear cautious to state a diagnosis with which they are not familiar and which is discredited as a fashionable diagnosis.

  3. Goldbloom's syndrome - a case report.

    Science.gov (United States)

    Santos, Sónia; Estanqueiro, Paula; Salgado, Manuel

    2013-01-01

    The Goldbloom's syndrome (GS) is a rare clinical condition of unknown aetiology, occurring exclusively in the pediatric population. It consists in an idiopathic periosteal hyperostosis with dysproteinemia, whose symptoms can mimic a neoplastic disease. We present a case report illustrating the diagnostic challenge of this condition. The exclusion of the common causes of bone pain, associated with generalized periostitis and increased gammaglobulins suggested the diagnosis of GS. The self-limited symptoms, the resolution of radiological findings in four months and the normalization of laboratory abnormalities within ten months, allowed to establish definitely the diagnosis of GS. GS must be considered when diffuse bone pain, prolonged fever and weight loss are present after exclusion of malignant disease with bone involvement.

  4. Pertussis Syndrome. A Case Report

    Directory of Open Access Journals (Sweden)

    Alina Esther González Hermida

    2014-10-01

    Full Text Available Pertussis-like syndrome and whooping cough-like illness are the terms used to refer to the indistinguishable signs and symptoms of whooping cough in the absence of laboratory tests to confirm the presence of the bacteria that causes it. Although there are no reported cases in Cuba, it is important to keep paying attention to the most representative symptoms of this disease, since there has recently been a resurgence of whooping cough in the world. Therefore, it is relevant to present the case of a patient with a two-week history of upper respiratory symptoms and dry cough. These symptoms intensified, so she attended the emergency service of her health area.

  5. Concurrent Van der Woude syndrome and Turner syndrome: A case report

    OpenAIRE

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insuf...

  6. Parkinsonism plus syndrome - A review

    Directory of Open Access Journals (Sweden)

    Mitra K

    2003-04-01

    Full Text Available Parkinsonism plus syndrome is a group of heterogeneous degenerative neurological disorders, which differ from the classical idiopathic Parkinson's disease in certain associated clinical features, poor response to levodopa, distinctive pathological characteristics and poor prognosis. Associated clinical features include symmetrical onset, infrequent or atypical tremor, prominent rigidity in axial musculature, bradykinesia, early postural instability, supranuclear gaze palsy, early autonomic failure, pyramidal affection, cerebellar involvement, alien limb phenomenon, apraxia and significant early cognitive dysfunction in some cases. Progressive supranuclear palsy (PSP, multiple system atrophy (MSA and dementia with Lewy body disease (DLB are commoner disorders. Less frequent disorders are cortico-basal ganglionic degeneration (CBGD, frontotemporal dementia with chromosome 17 (FTDP-17, Pick's disease, parkinsonian-dementia complex of Guam, Pallidonigral degeneration, Wilson's disease and a rigid variant of Huntington's disease. During the last 3 decades, major progress has been made in understanding PSP, CBGD and FTDP-17, which are tau disorders. MSA and DLB together with idiopathic Parkinson's disease are called a-synucleinopathies. Recent studies show that the diagnosis of these Parkinsonism plus syndromes improves when strict diagnostic criteria are used. However, unusual presentations may pose a diagnostic challenge. The shortcomings of the current studies demand the need for further research to identify biologic markers that may allow earlier diagnosis, and understanding of the factors leading to a-synuclein or tau aggregation. Identification of therapeutic strategies that may prevent the aggregation of these proteins and rescue dysfunctional cells has been stressed. This review focuses on the advances in the clinical, neuroimaging, pathologic, genetic and management aspects of these disorders.

  7. J Wave Syndromes: A Decade of Progress

    Institute of Scientific and Technical Information of China (English)

    Guo-Liang Li; Lin Yang; Chang-Cong Cui; Chao-Feng Sun; Gan-Xin Yan

    2015-01-01

    Objective:The objective was to provide a brief history of J wave syndromes and to summarize our current understanding of their molecular,ionic,cellular mechanisms,and clinical features.We will also discuss the existing debates and further direction in basic and clinical research for J wave syndromes.Data Sources:The publications on key words of"J wave syndromes","early repolarization syndrome (ERS)","Brugada syndrome (BrS)" and "ST-segment elevation myocardial infarction (STEMI)" were comprehensively reviewed through search of the PubMed literatures without restriction on the publication date.Study Selection:Original articles,reviews and other literatures concerning J wave syndromes,ERS,BrS and STEMI were selected.Results:J wave syndromes were firstly defined by Yan et al.in a Chinese journal a decade ago,which represent a spectrum of variable phenotypes characterized by appearance of prominent electrocardiographic J wave including ERS,BrS and ventricular fibrillation (VF) associated with hypothermia and acute STEMI.J wave syndromes can be inherited or acquired and are mechanistically linked to amplification of the transient outward current (Ito)-mediated J waves that can lead to phase 2 reentry capable of initiating VF.Conclusions:J wave syndromes are a group of newly highlighted clinical entities that share similar molecular,ionic and cellular mechanism and marked by amplified J wave on the electrocardiogram and a risk of VF.The clinical challenge ahead is to identify the patients with J wave syndromes who are at risk for sudden cardiac death and determine the alternative therapeutic strategies to reduce mortality.

  8. Mirizzi Syndrome Type 2: A Case Report

    Directory of Open Access Journals (Sweden)

    Aydemir Ölmez

    2009-01-01

    Full Text Available Mirizzi syndrome is an unusual complication of gallstone disease and occurs in approximately 1% of these pa-tients. Some cases can not be identified preoperatively; despite modern imaging techniques. Today; treatment of Mirizzi syndrome is surgical. If Mirizzi syndrome is pre-sent; the risk of bile duct injury increases; particularly during laparoscopic surgery. Therefore; preoperative or intraoperative diagnosis is important. Here; we pre-sented a 29 year-old woman with obstructive jaundice who diagnosed as cholelithiasis and choledocholithiasis. Preoperative endoscopic retrograde cholangiography re-lieved the common bile duct stone but cound not diag-nosed the Mirizzi syndrome preoperatively. During lapa-roscopy; the diagnosis of Mirizzi syndrome was sus-pected early and the procedure was converted to open cholecystectomy and T-tube to common bile duct. There was no bile duct injury and postoperative course was uneventful.

  9. Polycystic Ovarian Syndrome: A Primer.

    Science.gov (United States)

    Thornton, Emily C; Von Wald, Tiffany; Hansen, Keith

    2015-06-01

    Polycystic ovary syndrome (PCOS) affects 8-10 percent of reproductive-aged females, making it the most common state of endocrine dysfunction in women. Patients with PCOS are often treated for the signs and symptoms of the condition without consideration for the underlying syndrome, causing frustration for many affected patients. Abnormal uterine bleeding, endometrial hyperplasia and cancer, hirsutism and other skin changes, obesity, glucose intolerance, hypertension, and hyperlipidemia often accompany the syndrome, making it imperative to address these issues. The keys to diagnosis and treatment are understanding the diagnostic criteria of hyperandrogenism, ovulatory dysfunction, polycystic ovaries and the metabolic syndrome, while aiming treatment at controlling the symptoms and causes of the syndrome. In 2013, the Endocrine Society released its clinical guidelines, Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline. This gives clear diagnostic criteria, and treatment goals aimed at the etiology of the syndrome: to decrease hyperandrogenic symptoms, management of underlying metabolic abnormalities, prevention of endometrial hyperplasia and carcinoma, and improvement of ovulation.

  10. Is iliotibial band syndrome really a friction syndrome?

    Science.gov (United States)

    Fairclough, John; Hayashi, Koji; Toumi, Hechmi; Lyons, Kathleen; Bydder, Graeme; Phillips, Nicola; Best, Thomas M; Benjamin, Mike

    2007-04-01

    Iliotibial band (ITB) syndrome is regarded as an overuse injury, common in runners and cyclists. It is believed to be associated with excessive friction between the tract and the lateral femoral epicondyle-friction which 'inflames' the tract or a bursa. This article highlights evidence which challenges these views. Basic anatomical principles of the ITB have been overlooked: (a) it is not a discrete structure, but a thickened part of the fascia lata which envelops the thigh, (b) it is connected to the linea aspera by an intermuscular septum and to the supracondylar region of the femur (including the epicondyle) by coarse, fibrous bands (which are not pathological adhesions) that are clearly visible by dissection or MRI and (c) a bursa is rarely present-but may be mistaken for the lateral recess of the knee. We would thus suggest that the ITB cannot create frictional forces by moving forwards and backwards over the epicondyle during flexion and extension of the knee. The perception of movement of the ITB across the epicondyle is an illusion because of changing tension in its anterior and posterior fibres. Nevertheless, slight medial-lateral movement is possible and we propose that ITB syndrome is caused by increased compression of a highly vascularised and innervated layer of fat and loose connective tissue that separates the ITB from the epicondyle. Our view is that ITB syndrome is related to impaired function of the hip musculature and that its resolution can only be properly achieved when the biomechanics of hip muscle function are properly addressed.

  11. Ocular dermoid in Pai Syndrome: A review.

    Science.gov (United States)

    Tormey, Peter; Bilic Cace, Iva; Boyle, Michael A

    2017-04-01

    Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum. Herein, we present an infant girl with Pai Syndrome diagnosed in the first week of life with typical facial findings and associated pericallosal lipoma identified on cranial ultrasound and brain MRI. These typical features identified included median cleft of the upper lip (in her case as a forme fruste) with a cleft alveolus and a mid-anterior alveolar process congenital polyp. In addition to these findings there was mild hypertelorism and an ocular abnormality on the right eye. An ophthalmology assessment on day 5 identified the ocular lesion as a limbal dermoid. Several ocular anomalies have been reported in association with Pai Syndrome, however, dermoids have not been frequently described in this Syndrome and not before in a limbal location. Increasing identification of previously unreported ocular abnormalities in Pai Syndrome may improve diagnosis and may prove useful in future work attempting to elucidate the aetiology of this rare syndrome.

  12. Prune belly syndrome (sequenze: a case report

    Directory of Open Access Journals (Sweden)

    A. Vani

    2013-04-01

    Full Text Available The Prune Belly syndrome (PBS also known as Eagle Barret syndrome is a rare disorder. It is an abdominal muscles deficiency syndrome characterized by a Triad syndrome i.e. deficiency of abdominal wall muscles, failure of testicular descent and dilation of the urinary tract. This syndrome has derived its name from the wrinkled prune appearance of the abdominal wall. Prune Belly syndrome is a rare anomaly seen in one in 35,000-50,000 live births. It occurs in all races. Prune Belly syndrome almost exclusively occurs in males (M:F, 20:1. The diagnosis can be made in utero by ultrasonography at 21 weeks of gestation or in the Neonate with characteristic clinical findings. The present case was a dead male fetus of 20 weeks of gestation sent to Anatomy department after Medical termination of pregnancy, due to congenital anomalies identified in routine ultrasound examination during antenatal checkup. [Int J Res Med Sci 2013; 1(2.000: 148-152

  13. Hermansky-Pudlak syndrome; a Case Report

    Directory of Open Access Journals (Sweden)

    Abbas Bagheri

    2010-01-01

    Full Text Available Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion: Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

  14. The Lynch syndrome: a management dilemma.

    Science.gov (United States)

    Palumbo, Piergaspare; Amatucci, Chiara; Perotti, Bruno; Dezzi, Claudia; Girolami, Marco; Illuminati, Giulio; Angelici, Alberto M

    2013-05-01

    The case of a familial Lynch syndrome is reported. The criteria for early diagnosis, management and surveillance are briefly reviewed. A germline mutation of genes responsible for mismatch repair is at the basis of the Lynch syndrome. Carriers are predisposed to colorectal cancer and other tumors. Two members of the presently reported family developed colorectal cancer, whereas two others developed other neoplasms. The syndrome was confirmed in members of the same family with appropriate genetic workup. Clinical examination and endoscopy were consequently scheduled once-a-year. Given the high risk of neoplastic disease, such yearly controls can be proposed as the standard follow-up of this condition.

  15. Ohtahara syndrome and IVF: A case report

    Directory of Open Access Journals (Sweden)

    Ashrafi NR

    2000-08-01

    Full Text Available Ohtahara syndrome or ealy infantile epileptic encephalopathy is a rare cause of epileptic seizures during infancy and represents the earliest type of age related symptomatic generalized epilepsies. The main etiologic factor associated with ohtahara syndrome is cerebran dysgenesis. This case was the product of in vitro fertilization (IVF after 18 years of infertility . Neuroimaging findings consisted of diffuse white matter abnormalities, cortical atrophy and hemimegalencephaly. There is a previous report of this syndrome from Canada that was conceived throught IVF. A relation between IVF and the occurrence of Ohtahara synforme needs further observations.

  16. Papillon-Lefevre Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Sanchita Kundu Shabnam Zahir

    2012-07-01

    Full Text Available Papillon-Lefevre Syndrome is a very rare syndrome of autosomal recessiveinheritance characterized by palmer-planter hyperkeratosis and early onset of a severedestructive periodontitis., leading to premature loss of both primary and permanentdentitions.Genetic studies have shown that mutations in the major gene locus ofchromosome 11q14 with loss of function of cathepsin C gene are responsible for thissyndrome. An early diagnosis and intervention can help to preserve teeth and preventtheir premature exfoliation. A clinical case of Papillon- Lefevre syndrome isdiscussed herewith having all of the characteristic features.

  17. Parinaud's oculoglandular syndrome: A case report.

    Science.gov (United States)

    Galindo-Bocero, J; Sánchez-García, S; Álvarez-Coronado, M; Rozas-Reyes, P

    2017-01-01

    A 33-year old woman presents with unilateral granulomatous conjunctivitis, ipsilateral regional lymphadenopathy and fever. A Bartonella henselae infection is demonstrated by indirect immunofluorescence, and a diagnosis of a Parinaud's oculoglandular syndrome is established. Outcome after treatment with oral doxycycline is satisfactory. Parinaud's oculoglandular syndrome is the most frequent ocular manifestation of a Bartonella henselae infection. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Myofascial pain syndrome: a treatment review.

    Science.gov (United States)

    Desai, Mehul J; Saini, Vikramjeet; Saini, Shawnjeet

    2013-06-01

    Myofascial pain syndrome (MPS) is defined as pain that originates from myofascial trigger points in skeletal muscle. It is prevalent in regional musculoskeletal pain syndromes, either alone or in combination with other pain generators. The appropriate evaluation and management of myofascial pain is an important part of musculoskeletal rehabilitation, and regional axial and limb pain syndromes. This article reviews the current hypotheses regarding the treatment modalities for myofascial trigger points and muscle pain. Through a critical evidence-based review of the pharmacologic and nonpharmacologic treatments, the authors aim to provide clinicians with a more comprehensive knowledge of the interventions for myofascial pain.

  19. Primary haemophagocytic syndrome in a young girl.

    Science.gov (United States)

    Sasidharan, P K; Prasanth Varghese, C; Sandeep, P; Sreejith, R; Shaan, Mohammed; Shiji, P V; Satish, H; Feroz, M

    2011-01-01

    Haemophagocytic syndrome is a life-threatening systemic illness characterized by an uncontrolled inflammatory response. Patients present with fever, hepatosplenomegaly, jaundice and liver dysfunction, neurological manifestations and often pancytopenla. Bone marrow, lymph node, hepatic or splenic biopsy shows macrophages with Ingested blood cells or their precursors. Laboratory markers include elevated triglycerides and ferritin, low fibrinogen with normal or low erythrocyte sedimentation rate (ESR). Familial haemophagocytic lymphohistiocytosis (HLH) is an autosomal recessive disorder. Secondary haemophagocytic syndrome results from infections, malignancy and collagen vascular disorders. We describe a young girl with primary haemophagocytic syndrome.

  20. RABSON-MENDENHALL SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Mohammad Reza ALAEI

    2010-07-01

    Full Text Available Rabson-Mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this is the first report of the Rabson-Mendenhall syndrome from Iran.Keywords:Diabetes, Hirsutism, Insulin resistance, Clitoromegaly

  1. A new case of Okamoto syndrome.

    Science.gov (United States)

    Wallerstein, Robert; Shih, Ling-yu; Fong, Mei-Heung; Zheng, Sharon; Poon, Eric

    2005-04-01

    We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently described distinctive multiple congenital anomaly syndrome encompassing the above features for which an etiologic factor has not yet been identified. Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases.

  2. Goodpasture syndrome in a pregnant woman.

    Science.gov (United States)

    Vasiliou, D Marie; Maxwell, Cynthia; Shah, Prakeshkumar; Sermer, Mathew

    2005-11-01

    Goodpasture syndrome, an immunologic disorder characterized by glomerulonephritis and pulmonary hemorrhage, rarely presents in pregnancy. We describe a patient who was diagnosed with Goodpasture syndrome in her second trimester. She required daily hemodialysis, intermittent plasmapheresis, and immunosuppressive therapy. Her pregnancy was complicated by hypertension, and she delivered a low birth weight neonate prematurely at 26 4/7 weeks of gestation by cesarean due to nonreassuring fetal status. Deterioration in the fetal status may have been secondary to complications of hypertension, in addition to prematurity. Goodpasture syndrome in pregnancy may be associated with significant maternal and fetal morbidity.

  3. Primary antiphospholipid syndrome presenting as antiphospholipid syndrome nephropathy: a case report

    OpenAIRE

    Abeysekera, Rajitha Asanga; Wazil, Abdul Wahid Mohomad; Nanayakkara, Nishantha; Ratnatunga, Neelakanthi VI; Fernando, Kaushal Maithree; Thinnarachchi, Jalitha

    2015-01-01

    Introduction Primary antiphospholipid syndrome can be a difficult diagnosis in the absence of typical clinical features. We describe an unusual presentation of primary antiphospholipid syndrome mimicking vasculitis for which the only diagnostic clue on initial presentation was antiphospholipid syndrome nephropathy. Case presentation A 29-year-old Sri Lankan woman presented with features mimicking vasculitis with no obvious clinical features of antiphospholipid syndrome. Classical symptoms of ...

  4. How to diagnose a lipodystrophy syndrome.

    Science.gov (United States)

    Vantyghem, Marie-Christine; Balavoine, Anne-Sophie; Douillard, Claire; Defrance, Frédérique; Dieudonne, Lucile; Mouton, Fanny; Lemaire, Christine; Bertrand-Escouflaire, Nicole; Bourdelle-Hego, Marie-Françoise; Devemy, Fabrice; Evrard, Anne; Gheerbrand, Dominique; Girardot, Caroline; Gumuche, Sophie; Hober, Christine; Topolinski, Hélène; Lamblin, Blandine; Mycinski, Bénédicte; Ryndak, Amélie; Karrouz, Wassila; Duvivier, Etienne; Merlen, Emilie; Cortet, Christine; Weill, Jacques; Lacroix, Dominique; Wémeau, Jean-Louis

    2012-06-01

    The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung

  5. [Fahr syndrome discovered following a bacterial meningitis].

    Science.gov (United States)

    Sbai, H; Smail, L; Hamdani, S; Essatara, Y; Harrandou, M; Khatouf, M; Kanjaa, N

    2008-05-01

    Fahr's disease refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcifications. The basal ganglia and dentate nucleus are the most common site of involvement and most cases present extrapyramidal symptoms. This disease is mostly associated with a phosphocalcic metabolism disorder, especially to hypoparathyroidism. The authors report a case of Fahr syndrome (FS) discovered when a young patient with hypocalcemia and bacterial meningitis had a cerebral CT scan disclosing intracerebral calcifications. She fully recovered after both meningitis and hypocalcemia were treated.

  6. Kleine–Levin Syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Taís Figueiredo de Araújo Lima

    2014-06-01

    Full Text Available The Kleine–Levin Syndrome is a differential diagnosis for patients with diurnal excessive sleepiness and a suspicion of narcolepsy. It is characterized by paroxysmal attacks of diurnal excessive sleepiness, associated with one or more symptoms of hyperphagia, hypersexuality, coprolalia and copropraxia. During crisis intervals, there are no symptoms. This pathology predominantly manifests itself in teenagers, being more frequent among males. The course of this disease is unpredictable, with variable duration and frequency. The most accepted physiopathology is that of a hypothalamic dysfunction, although and recently, there has appeared a hypothesis of a post-infectious autoimmune disorder. These patients show an elevated body mass index, which can predispose to association with comorbidities such as the sleep obstructive apnea syndrome. Treatment involves medications with different effects, but there is no specific and effective therapy. Our article shows a classic case of Kleine–Levin Syndrome associated with sleep obstructive apnea syndrome, a rare association in the literature.

  7. Kleine-Levin syndrome: a review

    Directory of Open Access Journals (Sweden)

    Guilleminault C

    2014-01-01

    Full Text Available Mitchell G Miglis, Christian Guilleminault Stanford University Sleep Medicine Division, Stanford Outpatient Medical Center, Redwood City, CA, USA Abstract: Kleine-Levin syndrome is a recurrent hypersomnia associated with symptoms of hyperphagia, hypersexuality, and cognitive impairment. This article reviews the current available research and describes common clinical symptoms, differential diagnosis, and acceptable workup and treatment. Although deficits have traditionally been thought to resolve between episodes, functional imaging studies and long-term neuropsychological testing in select patients have recently challenged this notion. This may suggest that Kleine-Levin syndrome is not as benign as previously considered. Keywords: Kleine-Levin syndrome, hypersomnia, adolescent sleep disorder, hypersexuality

  8. A Bad Case of Good's Syndrome.

    Science.gov (United States)

    Tachdjian, Raffi; Keller, Janet J; Pfeffer, Michael

    2014-12-01

    Good's syndrome is a relatively rare immunodeficiency condition that presents in the fourth or fifth decade of life and is defined by hypogammaglobulinemia in the setting of a thymoma. The humoral defect may be severe enough to cause an absence in B cells, with a consequent recurrence of sinopulmonary disease, chronic non-infectious diarrhea and opportunistic infections. The prognosis in patients with Good's syndrome appears to be worse than in those with X-linked agammaglobulinemia (XLA) and common variable immune deficiency (CVID). There have only been three cases of Good's syndrome associated with mycobacterium, and only one case with a cavitary lesion in the lungs. We present here a unique case of Good's syndrome with a non-mycobacterial cavitary lesion.

  9. A rare case of the lenz syndrome.

    Science.gov (United States)

    T, Sohil; K, Ketki; M S, Rukmini; K, Nutan; M, Poornima

    2013-02-01

    We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and digital deformities, and urogenital malformations were observed, with an exception of a dental anomaly. Dental abnormalities were not pertinent, as the patient was a neonate.

  10. Rapunzel Syndrome: A Rare Postpartum Case

    Directory of Open Access Journals (Sweden)

    Teshome Tegene

    2013-01-01

    Full Text Available The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  11. Rapunzel syndrome: a rare postpartum case.

    Science.gov (United States)

    Tegene, Teshome; Foda, Yahia; Hussain, Omar; Oloniyo, Kolawole; Ha, Ngoc-Tram; Manikonda, Geeta

    2013-01-01

    The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  12. A mild form of Proteus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hauer, M.P.; Allmann, K.H.; Langer, M. [Abteilung Roentgendiagnostik, Radiologische Universitaetsklinik, Albert-Ludwigs-Universitaet Freiburg (Germany); Uhl, M. [Sektion Kinderradiologie, Albert-Ludwigs-Universitaet (Germany); Darge, K. [Radiologische Universitaetsklinik, Abteilung Kinderradiologie, Universitaet Heidelberg (Germany)

    1998-05-01

    Proteus syndrome is a rare congenital hamartomatous syndrome. We report on the clinical and radiological appearances of a boy in order to illustrate the typical signs which include subcutaneous masses, in mild forms partial gigantism of hands and feet, hemihypertrophy, and bony abnormalities. We discuss how to make the definitive diagnosis on the basis of using a known rating scale, important aspects of differential diagnosis and clinical features, and diagnostic management. (orig.) With 3 figs., 1 tab., 14 refs.

  13. Bouveret’s Syndrome: a Case Report

    Directory of Open Access Journals (Sweden)

    Daniel J Warren

    2008-10-01

    Full Text Available

    Bouveret's syndrome is a well known clinical entity; its incidence however, is uncommon.  An unusual complication of cholelithiasis, Bouveret's syndrome should be considered in an elderly patient presenting with acute gastric outlet obstruction.   
    We describe a case of an elderly female patient presenting with acute gastric outlet obstruction secondary to a massive gallstone and discuss the imaging appearances and therapeutic options for this rare condition.

  14. SUNCT syndrome: The materialization of a headache syndrome

    Directory of Open Access Journals (Sweden)

    Ottar Sjaastad

    2008-10-01

    Full Text Available Ottar SjaastadDepartment of Neurology, St. Olav´s Hospital, 7006 Trondheim University Hospitals, Trondheim, NorwayAbstract: Shortlasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing (SUNCT syndrome is a rare headache, described by our group in 1989. This overview presents our early studies of SUNCT pathogenesis. Due to the conspicuous ictal, ocular phenomena, ie, conjunctival injection and tearing, our studies started out with ocular parameters: intraocular pressure and corneal indentation pulse amplitudes, both of which showed clear ictal increments, symptomatic side. Beat-to-beat, noninvasive blood pressure measurements during attack showed instant, systolic blood pressure rise and corresponding pulse rate decrease. Carotid body, the principal peripheral chemoreceptor, seemed to function normally. The middle cerebral artery was dilated during attacks, particularly on the symptomatic side. Finally, some viewpoints are added regarding terminology. SUNCT is a workable and accepted term. There does not seem to be any need for another, fictitious term to describe the same clinical picture.Keywords: SUNCT syndrome, intraocular blood flow, intraocular pressure, median artery blood flow, carotid body function, hypothalamic stimulation

  15. Groenblad Strandberg syndrome-A case report

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    Harikrishnan S

    1991-01-01

    Full Text Available A rare case of Groenblad Strandberg syndrome in which angioid streaks are associated with pseudoxanthoma elasticum is being reported. The pathology, clinical features, complications and treatment of angioid streaks are discussed in detail.

  16. Developmental dyscalculia: a dysconnection syndrome?

    Science.gov (United States)

    Kucian, Karin; Ashkenazi, Simone Schwizer; Hänggi, Jürgen; Rotzer, Stephanie; Jäncke, Lutz; Martin, Ernst; von Aster, Michael

    2014-09-01

    Numerical understanding is important for everyday life. For children with developmental dyscalculia (DD), numbers and magnitudes present profound problems which are thought to be based upon neuronal impairments of key regions for numerical understanding. The aim of the present study was to investigate possible differences in white matter fibre integrity between children with DD and controls using diffusion tensor imaging. White matter integrity and behavioural measures were evaluated in 15 children with developmental dyscalculia aged around 10 years and 15 matched controls. The main finding, obtained by a whole brain group comparison, revealed reduced fractional anisotropy in the superior longitudinal fasciculus in children with developmental dyscalculia. In addition, a region of interest analysis exhibited prominent deficits in fibres of the superior longitudinal fasciculus adjacent to the intraparietal sulcus, which is thought to be the core region for number processing. To conclude, our results outline deficient fibre projection between parietal, temporal and frontal regions in children with developmental dyscalculia, and therefore raise the question of whether dyscalculia can be seen as a dysconnection syndrome. Since the superior longitudinal fasciculus is involved in the integration and control of distributed brain processes, the present results highlight the importance of considering broader domain-general mechanisms in the diagnosis and therapy of dyscalculia.

  17. Neuroleptic malignant syndrome and serotonin syndrome in a female patient: a clinicopathologic case.

    Science.gov (United States)

    Gómez-Esteban, Juan Carlos; Barcena, Joseba; Forcadas, Maribel; Somme, Johanne; Agundez, Marta; Tijero, Beatriz; Zarranz, Juan J

    2009-01-01

    We report the case of a 24-year-old female patient who initially developed a neuroleptic malignant syndrome after haloperidol exposure and experienced 6 years later a serotonin syndrome after repeated fluoxetine exposure. The patient did not respond to symptomatic treatment and died in this latter episode. At necropsy, no gross or microscopic changes were seen with conventional histological stains, and immunohistochemical stains were negative. This is the first clinicopathologic case of a patient who experienced both neuroleptic malignant and serotonin syndromes. We speculate that this case argue in favor that both syndromes share some fundamental pathogenetic mechanisms.

  18. Computer vision syndrome: A review.

    Science.gov (United States)

    Gowrisankaran, Sowjanya; Sheedy, James E

    2015-01-01

    Computer vision syndrome (CVS) is a collection of symptoms related to prolonged work at a computer display. This article reviews the current knowledge about the symptoms, related factors and treatment modalities for CVS. Relevant literature on CVS published during the past 65 years was analyzed. Symptoms reported by computer users are classified into internal ocular symptoms (strain and ache), external ocular symptoms (dryness, irritation, burning), visual symptoms (blur, double vision) and musculoskeletal symptoms (neck and shoulder pain). The major factors associated with CVS are either environmental (improper lighting, display position and viewing distance) and/or dependent on the user's visual abilities (uncorrected refractive error, oculomotor disorders and tear film abnormalities). Although the factors associated with CVS have been identified the physiological mechanisms that underlie CVS are not completely understood. Additionally, advances in technology have led to the increased use of hand-held devices, which might impose somewhat different visual challenges compared to desktop displays. Further research is required to better understand the physiological mechanisms underlying CVS and symptoms associated with the use of hand-held and stereoscopic displays.

  19. Raynaud's Syndrome: a neglected disease.

    Science.gov (United States)

    Poredos, Pavel; Poredos, Peter

    2016-04-01

    Raynaud's Syndrome is a frequent manifestation of digital ischemia which occurs or is aggravated upon exposure to cold temperatures or emotional distress. Primary Raynaud is a benign disease which predominantly affects younger women and is transient without serious sequelae. In contrast, secondary Raynaud is usually one of the manifestations of systemic disease and is, in addition to symptoms of the basic disease, associated with ischemic lesions. The diagnosis of primary Raynaud is mostly based on the clinical presentation. In secondary Raynaud, additional investigating techniques including imaging investigations and laboratory tests for the detection of underline disease are needed. Treatment is based on lifestyle modification, which includes smoking cessation, avoiding low outside temperatures, avoiding the use of vibrating tools and limiting repeated hand actions. Drug treatment consists of calcium-channel blockers, nitroglycerine ointments, prostacyclins and various new drugs such as endothelin receptor antagonists, phosphodiesterase inhibitors and serotonin receptor antagonists. Most of these drugs are effective in less than 50% of treated patients and do not completely abolish vasospastic attacks, but reduce the severity and frequency of attacks. The prostacyclin derivate iloprost is the most promising drug in the management of secondary Raynaud's disease. Other therapeutic procedures including chemical or surgical sympathectomy are obsolete and without any long-term positive effects.

  20. A Case with Cramp-Fasciculation Syndrome

    Directory of Open Access Journals (Sweden)

    Pinar Yalinay Dikmen

    2014-12-01

    Full Text Available Cramp-fasciculation syndrome is one of the peripheral nerve hyperexcitability disorders and presents muscle aching, cramps, stiffness and exercise intolerance. Fasciculation and cramps can be seen both in healthy individuals and in those with fatal diseases, such as Amyotrophic Lateral Sclerosis. We present a 27-year-old male patient, professional soccer player with fasciculations and cramps in  bilateral gastrocnemius-soleus complex. The patient complained about having to stop playing soccer because of muscle cramps and twitches in both calves, which had started 3 years earlier. After completing all laboratory and electrophysiological examinations, the patient was diagnosed as cramp-fasciculation syndrome. The aim of this paper was to present a rare case of cramp-fasiculation syndrome and discuss if the syndrome is benign or pioneer of a severe pathological process.

  1. Lynch syndrome: still not a familiar picture

    Directory of Open Access Journals (Sweden)

    Hes Frederik J

    2008-02-01

    Full Text Available Abstract Background Germ line mutations in mismatch repair genes underlie Lynch syndrome and predispose carriers for colorectal carcinoma and malignancies in many other organ systems. Case presentation A large Lynch syndrome family with 15 affected family members and involvement in 7 organs is reported. It illustrates a lack of awareness and knowledge about this hereditary tumor syndrome among doctors as well as patients. None of the described family members underwent presymptomatic screening on the basis of the family history. Conclusion Hereditary features, like young age at diagnosis, multiple tumors in multiple organs and a positive family history, should lead to timely referral of suspected cases for genetic counseling and diagnostics. For Lynch syndrome, these features can be found in the Amsterdam and Bethesda criteria. Subsequently, early identification of mutation carriers might have diminished, at least in part, the high and early morbidity and mortality observed in this family.

  2. RABSON-MENDENHALL SYNDROME: A CASE REPORT

    OpenAIRE

    Alaei, Mohammad Reza; MIRJAVADI, Seyed Alireza; Shiari, Reza

    2010-01-01

    Rabson-Mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this i...

  3. Primary Antiphospholipid Antibody Syndrome: A Case Report.

    Science.gov (United States)

    Kadeli, Deepak K; Hanjagi, Siddaraya Y

    2015-10-01

    Primary Antiphospholipid antibody syndrome is a rare disease associated with thromboembolic events which may affect either the arterial or the venous vasculature. It presents with an increased risk of thrombosis in pregnant woman leading to repeated fetal losses. We present here a case of primary antiphospholipid antibody syndrome in young women who had previous event of gangrene of toes leading to their amputation and repeated fetal losses.

  4. A Biomechanical Analysis of Patellofemoral Stress Syndrome

    OpenAIRE

    Moss, Robert I.; DeVita, Paul; Dawson, Mary L.

    1992-01-01

    This study was conducted in order to: a) investigate the relationship of selected anthropometric, strength, and kinematic variables to the incidence of patellofemoral stress syndrome in high school female athletes; and b) develop a predictive equation to screen individuals who may be predisposed to patellofemoral stress syndrome. Twenty-nine subjects were analyzed across nine dependent variables: two anthropometric measures, one strength measure, and six kinematic measures. Heavy subjects and...

  5. A Case of Bardet-Biedl Syndrome

    Directory of Open Access Journals (Sweden)

    katayon Etemadi

    2007-09-01

    Full Text Available Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnormalities and hypogonadism. Renal failure is the major cause of death in homozygote patients, with chronic glomerolopathy that cause chronic renal disease. Secondary features are: speech disorder delay, developmental delay, polyuria, diabetes mellitus and hypertension. The diagnosis of Bardet- Biedl syndrome is established by clinical findings. Twelve genes are known to be associated with Bardet Biedl syndromes: BBS1, BBS2… BBS12. Case presentation: In this article we report a four and half year old boy that have Bardet Biedl syndrome as a result of a consanguine marriage (third degree. Conclusion: A monogenic syndrome such as Bardet Biedl has a lot of symptoms. These symptoms are out put of a mutation in locus of a recessive allel. Therefore people like to marry consanguinly have to do genetic counseling before marriage. Because analysis of family history will reduced the risk of such syndromes.

  6. A Case of Classic Raymond Syndrome

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    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.

  7. [Burnout syndrome: a "true" cardiovascular risk factor].

    Science.gov (United States)

    Cursoux, Pauline; Lehucher-Michel, Marie-Pascale; Marchetti, Hélène; Chaumet, Guillaume; Delliaux, Stéphane

    2012-11-01

    The burnout syndrome is characterized by emotional exhaustion, depersonalization and reduced personal accomplishment in individuals professionally involved with others. The burnout syndrome is poorly recognized, particularly in France, as a distinct nosology from adaptation troubles, stress, depression, or anxiety. Several tools quantifying burnout and emotional exhaustion exist, the most spread is the questionnaire called Maslach Burnout Inventory. The burnout syndrome alters cardiovascular function and its neuroregulation by autonomic nervous system and is associated with: increased sympathetic tone to heart and vessels after mental stress, lowered physiological post-stress vagal rebound to heart, and lowered arterial baroreflex sensitivity. Job strain as burnout syndrome seems to be a real independent cardiovascular risk factor. Oppositely, training to manage emotions could increase vagal tone to heart and should be cardio-protective. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  8. Polycystic ovary syndrome: a dermatologic approach.

    Science.gov (United States)

    Moura, Heloisa Helena Gonçalves de; Costa, Dailana Louvain Marinho; Bagatin, Ediléia; Sodré, Celso Tavares; Manela-Azulay, Mônica

    2011-01-01

    Polycystic ovary syndrome (POS) is one of the most common endocrine abnormalities affecting women of reproductive age. It is a cause of significant social embarrassment and emotional distress. The pathogenesis of the disease is not yet fully understood, but it is thought to be a complex multigenic disorder, including abnormalities in the hypothalamic-pituitary axis, steroidogenesis, and insulin resistance. The main diagnostic findings of the syndrome are: hyperandrogenism, chronic anovulation and polycystic ovarian morphology seen on ultrasound. Hyperandrogenism is generally manifested as hirsutism, acne, seborrhea, androgenic alopecia and, in severe cases, signs of virilization. Treatment may improve the clinical manifestations of excess androgen production, normalize menses and ameliorate metabolic syndrome and cardiovascular complications. This article reviews the diagnosis, clinical manifestations, metabolic complications, and treatment of the syndrome. Early diagnosis and the consequent early treatment may prevent metabolic complications and emotional distress that negatively impact the patients' quality of life.

  9. Saethre-Chotzen syndrome: a case report.

    Science.gov (United States)

    Peña, William A; Slavotinek, Anne; Oberoi, Snehlata

    2010-05-01

    Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is a craniosynostosis syndrome inherited in an autosomal dominant manner. Although similar to the other craniosynostosis syndromes in its clinical presentation, this syndrome is caused by a mutation in the TWIST1 gene. The TWIST1 gene product is a transcription factor containing a basic helix-loop-helix (bHLH) domain important in the development of the head and limbs. Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal septum, broad great toes, clinodactyly, and syndactyly. We report a young girl with clinical features of Saethre-Chotzen syndrome who has a previously undescribed sequence variant in the TWIST1 gene, corresponding to p.R191M. The location of the altered amino acid in the Twist-box of TWIST1, the high conservation of this amino acid between different species, and the phenotype of the child all support a pathogenic role for this novel TWIST1 sequence alteration.

  10. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  11. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  12. SAPHO SyndromeA Pictorial Assay

    OpenAIRE

    Khanna, Lokesh; El-Khoury, Georges Y.

    2012-01-01

    SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a distinct clinical entity representing involvement of the musculoskeletal and dermatologic systems. It is well known to rheumatologists because of characteristic skin manifestations and polyarthropathy. However, few reports exist in the orthopaedic literature. It is important to be aware of sAPHO syndrome as it can mimic some of the more common disease entities such as infection, tumor, and other inflammatory arthropa...

  13. Cerebral salt wasting syndrome: a case report.

    Science.gov (United States)

    Hegde, R M

    1999-06-01

    A case of hyponatraemia associated with subarachnoid haemorrhage is presented. The provisional diagnosis of an inappropriate antidiuresis was made and treatment with fluid restriction was instituted. However the patient continued to deteriorate as the diuresis continued and the hyponatraemia worsened, resulting in hypovolaema. The salt wasting syndrome was subsequently diagnosed and saline and fludrocortisone (0.2 mg/day) was initiated, reducing the renal salt loss, increasing the plasma sodium and improving the neurological status of the patient. Cerebral salt wasting syndrome is an important and under-recognised cause of hyponatraemia in neurosurgical patients, particularly in patients with subarachnoid hemorrhage. It is essential to differentiate it from the syndrome of inappropriate antidiuretic hormone secretion to avoid complications of hypovolaemia and reduced cerebral perfusion as illustrated by this case. Brain natriuretic peptide may be responsible for this syndrome although this requires further investigation.

  14. A case of Plummer-Vinson syndrome in childhood.

    Science.gov (United States)

    Anthony, R; Sood, S; Strachan, D R; Fenwick, J D

    1999-10-01

    The Plummer-Vinson syndrome is characterized by an association of dysphagia, iron-deficiency anemia, and esophageal webs. The authors report the case of a 6 year old with Plummer-Vinson syndrome. Plummer-Vinson syndrome usually occurs in adults, rarely in adolescents, however, there have been no previous reports in the English-language literature of the syndrome occurring in childhood.

  15. Senior-Loken Syndrome in a Saudi Child

    OpenAIRE

    AlFadhel Majid; AlAmir Abdulrahman

    2008-01-01

    Senior-Loken syndrome is a rare syndrome of retinopathy and nephrono-phthisis. The clinical features of this syndrome include renal involvement, ocular involve-ment, retinitis pigmentosa and other systemic involvement. We describe an 11-year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from the Arabian Peninsula.

  16. Senior-Loken Syndrome in a Saudi Child

    Directory of Open Access Journals (Sweden)

    AlFadhel Majid

    2008-01-01

    Full Text Available Senior-Loken syndrome is a rare syndrome of retinopathy and nephrono-phthisis. The clinical features of this syndrome include renal involvement, ocular involve-ment, retinitis pigmentosa and other systemic involvement. We describe an 11-year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from the Arabian Peninsula.

  17. A strange Evans syndrome: a case report

    OpenAIRE

    Le Scanff, Julie; Durupt, Stéphane; Bailly, François,; Rode, Agnès; Sève, Pascal

    2009-01-01

    Hepatic angiosarcoma is a rare malignant vascular tumor, which accounts for up to 2% of all primary liver tumors. The most frequent symptoms on presentation are weight loss, weakness and abdominal pain. Diagnosis of diffuse hepatic angiosarcoma can be challenging. We report an original case of diffuse liver angiosarcoma revealed by haematological abnormalities initially diagnosed as an Evans syndrome. Anaemia and thrombocytopenia are rarely the first manifestations of this pathology. They are...

  18. Gardner Syndrome

    Science.gov (United States)

    ... Home > Types of Cancer > Gardner Syndrome Request Permissions Gardner Syndrome Approved by the Cancer.Net Editorial Board , 06/2014 What is Gardner syndrome? Gardner syndrome is a subtype of familial ...

  19. Cannabinoid Hyperemesis Syndrome: A Paradoxical Cannabis Effect

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    Ivonne Marie Figueroa-Rivera

    2015-01-01

    Full Text Available Despite well-established antiemetic properties of marijuana, there has been increasing evidence of a paradoxical effect in the gastrointestinal tract and central nervous system, given rise to a new and underrecognized clinical entity called the Cannabinoid Hyperemesis Syndrome. Reported cases in the medical literature have established a series of patients exhibiting a classical triad of symptoms: cyclic vomiting, chronic marijuana use, and compulsive bathing. We present a case of a 29-year-old man whose clinical presentation strongly correlates with cannabinoid hyperemesis syndrome. Despite a diagnosis of exclusion, this syndrome should be considered plausible in the setting of a patient with recurrent intractable vomiting and a strong history of cannabis use as presented in this case.

  20. MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME ASSOCIATED WITH PRUNE BELLY SYNDROME: A CASE REPORT

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    Tanveer Akhtar

    2012-04-01

    Full Text Available Megacystis Microcolon Intestinal Hypoperistalsis Syndrome is a quite rare congenital anomaly that presents with a functional obstruction of the gastrointestinal tract which is usually fatal. It is three to four times more prevalent in females. We present a case of a rare association of a male neonate with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome who in addition had the classical triad of Prune Belly Syndrome and thus suggest a possibility of different spectrums with a common pathogenesis.

  1. A Case of Laugier-Hunziker Syndrome.

    Science.gov (United States)

    Kim, Eun Jung; Cho, Sang Hyun; Lee, Jeong Deuk

    2008-09-01

    Laugier-Hunziker syndrome is a rare idiopathic acquired hyperpigmentation of oral mucosa and lips which is often associated with longitudinal melanonychia. This condition is known to be an entirely benign disease with no systemic manifestations. Herein we report a case of a 54-year-old woman presenting with a 7-year history of asymptomatic oral pigmentation and linear pigmented streaks of several fingernails. Histological examination taken from the mucosal lesion of tongue revealed increased pigmentation at the epithelial basal layer and a few melanophages in the submucosa. The lack of a family history coupled with the absence of any polyps on the endoscopic examinations of upper and lower bowel as well as the clinical features with late onset were all in favor of a diagnosis of Laugier-Hunziker syndrome. The significance of this disease is due to the need to differentiate this disorder from other pigmentary disorders of the oral mucosa, especially Peutz-Jeghers syndrome.

  2. A case of Lenz microphthalmia syndrome.

    Science.gov (United States)

    Ozkinay, F F; Ozkinay, C; Yüksel, H; Yenigun, A; Sapmaz, G; Aksu, O

    1997-07-01

    Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles. The patient, a 13 year old male, was referred to our hospital by a dental hospital for genetic counselling. On physical examination, height, weight, and head circumference were below the 3rd centile and he had brachymicrocephaly, a preauricular tag, microphthalmia, missing teeth, narrow shoulders, long, proximally placed thumbs, hypospadias, cryptorchidism, and a normal IQ. Ophthalmological examination showed microcornea, sclerocornea, absence of the pupil, no vision in the left eye and decreased vision and a small pupil in the right eye in addition to his bilateral microphthalmia. Cranial MRI showed dilatation of the lateral ventricles and dysgenesis of the corpus callosum.

  3. A Rare Presentation of the Klinefelter's Syndrome.

    Science.gov (United States)

    Hezarkhani, Sharabeh; Moujerloo, Mohammad; Sedighi, Sima; Taheri, Negar Sadat

    2012-11-01

    A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5, G5), but he had a small and a firm testis (length 2.2cm) and some degree of facial male pattern hair. He also had a decreased upper to lower body segment ratio and despite having chronic renal failure, he was taller than his parents and siblings. His laboratory tests showed high levels of FSH and normal levels of LH and testosterone. With regards to all these findings, we suspected that there might be an occult Klinefelter's syndrome. So, we made his karyotype that showed a 47XXY pattern. Because there are only a few number of cases that have occult Klinefelter's syndrome in the basis of chronic renal failure, we decided to report this case.

  4. a family doctor look for metabolic syndrome?

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    Izabela Maria Banaś

    2016-09-01

    Full Text Available Background. The asymptomatic course, early genesis, multifactorial onset, and the lack of a single definition of metabolic syndrome in children and adolescents make it difficult to assess its prevalence. Metabolic syndrome developed in childhood increases cardiovascular risk in adulthood. Objectives. The evaluation of the prevalence of metabolic syndrome based on age, sex, weight and abdominal obesity in a population of children and adolescents in a family doctor’s practice. Material and methods. The study group comprised 325 children and adolescents (177♀, 148♂ aged 7, 13 and 16 years. Anthropometric measurements (height, weight, waist circumference were made, along with the determination of blood pressure, fasting glucose and lipid levels. Overweight states and obesity were assessed according to the IOTF criteria. Abdominal obesity and hypertension were evaluated using growth charts appropriate for the age, gender and height of the children of Lodz. Metabolic syndrome was diagnosed based on the NCEP/AT P III criteria. Results . Metabolic syndrome was diagnosed in 6.5% of the subjects. In children aged 13 and 16 years – 7.6% (p > 0.05 vs. 7 years, aged 7 years – 3.9% (p > 0.05 vs. 13, 16 years, boys (8.8%; p > 0.05, girls (4.5%; p > 0.05. Among children with excessive body weight, metabolic syndrome was observed in every fourth child (25.4%, more often in those with obesity (44.1% than with abdominal obesity (32% and those who were overweight (19.2%, respectively (p < 0.001 vs. metabolic syndrome. The number of components of metabolic syndrome elevated with increasing body weight (p < 0.001. Abdominal obesity was observed in 17.5% of the subjects. Children with abdominal obesity had higher levels of triglycerides (p < 0.05 and lower HDL cholesterol (p 110 mg/dl in 85 (26.1% and excessive body weight in 71 subjects (21.8%. Conclusions . The presence of metabolic syndrome correlated with overweight state, obesity and abdominal obesity

  5. [Hemiconvulsion-hemiplegia-epilepsy syndrome in a girl with adrenogenital syndrome].

    Science.gov (United States)

    Vestergaard, Maiken; Uldall, Peter

    2014-12-15

    Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a very rare condition caused by a fever-associated status epilepticus causing various degrees of hemiplegia and secondary epilepsy affecting children under the age of four. The aetiology is not fully understood. We report a case of a two-year-old girl with adrenogenital syndrome presenting with HHE syndrome in the course of a bacterial septicaemia.

  6. A proposed reinterpretation of Gerstmann's syndrome.

    Science.gov (United States)

    Ardila, Alfredo

    2014-12-01

    Gerstmann's syndrome includes the clinical tetrad of finger agnosia, agraphia, acalculia, and right-left confusion. Some disagreement remains with regard to the exact localization of the syndrome, but most probable it involves the left angular gyrus with a subcortical extension. Several authors have suggested that a defect in mental spatial rotations could simultaneously account for acalculia, right-left disorientation, and finger agnosia. It has been also suggested that semantic aphasia is always associated with acalculia; as a matter of fact, left angular gyrus has a significant involvement in semantic processing. In this paper, it is proposed that Gerstmann's syndrome should include: acalculia, finger agnosia, right-left disorientation, and semantic aphasia, but not agraphia. When the pathology extends toward the superior parietal gyrus, agraphia can be found. A fundamental defect (i.e., an impairment in verbally mediated spatial operations) could explain these apparently unrelated clinical signs.

  7. Rett’s syndrome: a case report

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    Soumitra Ghosh

    2015-01-01

    Full Text Available Rett’s syndrome is a neurodevelopmental disorder that occurs almost exclusively in females and has a typically deteriorating course. We describe a case of Rett’s syndrome in a girl of three years. She had normal development till two years of age. She was presented to Psychiatry outpatient department (OPD, Assam Medical College and Hospital (AMCH with loss of her acquired hand skills and speech since last one year. She also developed purposeless stereotypic movements of hands and unable to hold objects in her hands. Gradually she has developed broad based gait and teeth grinding. This has been the first case of Rett’s syndrome reported in North East India and West Bengal.

  8. Cardiac involvement in antiphospholipid syndrome associated with Sneddon syndrome: a challenging diagnosis.

    Science.gov (United States)

    Faustino, Ana; Paiva, Luís; Morgadinho, Ana; Trigo, Emília; Botelho, Ana; Costa, Marco; Leitão-Marques, António

    2014-02-01

    Sneddon syndrome is a rare clinical entity characterized by the association of ischemic cerebrovascular disease and livedo reticularis. The authors report a case of stroke and myocardial infarction in a 39-year-old man with Sneddon syndrome and antiphospholipid syndrome who subsequently met some criteria for systemic lupus erythematosus, highlighting the complexity of cardiovascular involvement in systemic diseases. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  9. Parry Romberg syndrome: A rare case report

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    Raj Kumar Badam

    2014-01-01

    Full Text Available The Parry Romberg syndrome (PRS is a rare neurocutaneous disorder characterized by progressive facial hemiatrophy. Parry Romberg syndrome is characterized by a slow progressive atrophy that appears in the early stages of life, primarily affecting the subcutaneous tissue and subjacent fat on one side of the face. Dental findings include delayed tooth eruption, retarded root formation, root resorption, oligodontia, microdontia, dilacerations, pulp stones, reduction in the height and width of the ramus and body of the mandible, and delayed mandibular angular development. We describe the case of a 24-year-old female patient with stabilized, moderate, facial hemiatrophy on the right side of her face with a varied presentation.

  10. Melkersson-Rosenthal Syndrome: A forgotten diagnosis

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    Michael D. Karon

    2012-03-01

    Full Text Available The rare, non-caseating, granulomatous disease known as Melkersson-Rosenthal syndrome (MRS can be diagnostically difficult especially when not presenting as the characteristic triad of facial palsy, facial edema, and fissured tongue.1 We present a case of a 65-year-old female with a 15-year history of recurrent bilateral upper eyelid swelling previously unsuccessfully treated for a presumed lid allergy and rosacea. Following imaging and histopathology results, she has now been diagnosed with Melkersson-Rosenthal syndrome. Since this disease is typically refractory to treatment, she is being followed and treated with cosmetic eyelid skin reduction if necessary during inactive stages of the disease.

  11. Hantavirus pulmonary syndrome in a postpartum woman

    Science.gov (United States)

    Murthy, Pooja R.; Ucchil, Rajesh; Shah, Unmil; Chaudhari, Dipak

    2016-01-01

    Hantavirus infection, a rare disease diagnosed in India and carries a very high mortality. There are no reports of this infection in association with pregnancy or postpartum period in our country. We present a case of a 30-year-old female diagnosed to have hantavirus pulmonary syndrome in the postpartum period. We intend to create awareness about this infection and consider it in the differential diagnosis of patients presenting with acute respiratory distress syndrome and multiorgan dysfunction in association with pregnancy and postpartum period. PMID:27688634

  12. A Prenatal Case Report with Patau Syndrome

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    Mahmut Balkan

    2008-01-01

    Full Text Available In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies. Trisomy 13, or Patau syndrome, represents the third autosomic trisomy in order of frequency, after trisomy 21 (Down syndrome and trisomy 18 (Edwards syndrome, with a prevalence at birth estimated as between 1:12000 and 1:29000. In this study, we are presenting the results of cytogenetic analysis and clinic assessment in fetus of a woman at 22 weeks gestation, who were referred to our genetic diagnostic laboratory with abnormal triple test result, omphalosel and hydrocephaly. We performed the cordocentesis and pedigree analysis. We found a karyotype (47,XY,+13 in fetus. Because individuals of the family didn’t want, we were not followed the pregnancy prognosis for the mother and the fetus. We were recommending to the prenatal diagnosis for their further pregnancies.

  13. Kinsbourne syndrome: Report of a case

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    Paredes-Ebratt, Ángela María

    2017-01-01

    Full Text Available Kinsbourne syndrome, also known as “Opsoclonus-myoclonus syndrome” or “Dancing eyes syndrome” is a rare condition characterized by rapid, irregular, multi-directional eye movements (opsoclonus, myoclonic movements in the trunk, face and/or limbs and ataxia. It occurs in children aged between 6 and 36 months. Its etiology may be paraneoplasic (neuroblastoma, non-paraneoplasic (infectious processes or idiopathic. Regardless of its etiology, immunosuppressive drugs have been used in order to reduce the formation of antibodies possibly involved in the pathophysiology. We report the case of a 21 month-old girl with this syndrome secondary to an infectious respiratory illness. She had ataxia, opsoclonus, upper limbs myoclonus, irritability and altered sleep pattern. Neuroblastoma was ruled out. Initial management was done with methylprednisolone pulses, followed by oral prednisolone. She had progressive clinical improvement, and is currently asymptomatic with no sequelae. In these patients a paraneoplasic syndrome should always be ruled out.

  14. Burnout syndrome: a disease of modern societies?

    Science.gov (United States)

    Weber, A; Jaekel-Reinhard, A

    2000-09-01

    In the light of social change and a transformation in the work situation, interest in the problem of burnout has grown over the past decade. There is a conspicuous discrepancy, however, between what is regarded as certain knowledge and what is published opinion. To date, there is no generally accepted definition of burnout, or binding diagnostic criteria. According to the most common description at present, burnout syndrome is characterized by exhaustion, depersonalization and reduced satisfaction in performance. Because of its aetiopathogenesis, burnout is today mainly regarded as the result of chronic stress which has not been successfully dealt with. This paper gives an overview of the current definition for burnout syndrome and states possible contemporary hypotheses for its aetiology. By examining diagnostic criteria and possible therapies, methods of prevention are discussed. There is an urgent need for further investigations to determine whether burnout syndrome is a work-related disease.

  15. Gorlin Goltz syndrome: A clinicopathological case report

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    Shobha C Bijjaragi

    2014-01-01

    Full Text Available The Gorlin-Goltz syndrome is an infrequent multisystemic disease, which is inherited in an autosomal dominant manner. This shows a high level of penetrance and variable expressiveness, characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and / or plantar pits, calcification of the falx cerebri, and is occasionally associated with internal malignancies. It is fundamental to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome. Here we report a case of a 30-year-old male with major and minor features of the Gorlin-Goltz syndrome, such as, strabismus, barrel-shaped chest, with drooping shoulders and mild kyphosis, polydactyly, hypertelorism, multiple basal cell carcinomas, calcification of the falx cerebri, C5-C7 bifida spine, and fusion of T1 and T2.

  16. KLIPPEL TRENAUNAY SYNDROME : A CASE REPORT

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    Sonali

    2015-04-01

    Full Text Available INTRODUCTION: Klippel Trenaunay Syndrome is a rare congenital disorder, but it is the most common condition involving combined vascular malformation. KTS was first described by two French Physicians, Klippel and Trenaunay in 1900. (1 Incidence of KTS reported is approximately 2 to 5 cases per 100, 000 live births. ( 2,3 KTS generally affects a single extremity, although cases of multiple affected limbs have been reported. The leg is most common site followed by the arms, the trunk, and rarely the head and neck. The original description of KTS included limb hypertrophy, varicose veins and vascular (Port wine nevus, which were characterised as a clinical triad. Hemangiomatosis is the most frequent finding in these patients and is usually present at birth . ( 4 KTS is also known as angio - osteohypertrophy syndrome, congenital dysplastic angiopathy or klippel trenaunay weber syndrome.

  17. Polycystic ovary syndrome: A component of metabolic syndrome?

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    Vignesh J

    2007-01-01

    Full Text Available In 1935, Stein and Leventhal first described the polycystic ovary (PCO as a frequent cause of irregular ovulation in women seeking treatment for subfertility. Although the initial management was surgical with wedge resection of ovary, the availability of radioimmunoassay and increased clinical use of ultrasound made it clear that many women had the ultrasound characteristics of PCO with or without the biochemical or clinical features of PCOS and therefore that PCO were not associated with a single syndrome. The association between increased insulin resistance and PCOS is a consistent finding in all ethnic groups. Obesity is a common factor in the majority of women with PCOS. It is postulated that a woman may be genetically predisposed to developing PCOS but it is only the interaction of environmental factors (obesity with the genetic factors that results in the characteristic metabolic and menstrual disturbances. Weight loss, altered diet and exercise have been shown to be effective in the management of PCOS. Importance of early recognition, proper intervention, long-term monitoring and health implications needs more concern.

  18. Ovarian fibromatosis and sotos syndrome with a new genetic mutation.

    Science.gov (United States)

    Beurdeley, M; Sabourin, J C; Drouin-Garraud, V; Liard, A; Bachy, B; Vivier, P H

    2013-04-01

    Sotos syndrome is one the most common overgrowth conditions, after Beckwith-Wiedemann syndrome. As with other overgrowth syndromes, Sotos syndrome can be associated with an increased risk of tumors. We describe a young girl with Sotos syndrome and ovarian fibromatosis with a new mutation not reported before in the literature. Development of ovarian tumor in Sotos syndrome has been poorly documented. Ovarian fibromatosis is a very rare non neoplastic disease. Management is guided by the benignity of the lesion and consists of surgical excision of the fibroma. Copyright © 2013 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  19. Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome.

    Science.gov (United States)

    Bhaskararao, G; Himabindu, Y; Nayak, Samir Rajan; Sriharibabu, M

    2014-07-01

    Complete Androgen insensitivity syndrome is a disorder of hormone resistance characterized by a female phenotype in an individual with an XY karyotype. The pathogenesis of CAIS involves a defective androgen receptor gene located on X-chromosome at Xq11-12and end organ insensitivity to androgens, although androgen concentrations are appropriate for the age of the patient. There are three major types of androgen insensitivity syndrome: Complete androgen insensitivity syndrome, minimal androgen insensitivity syndrome, and partial androgen insensitivity syndrome. Management of androgen insensitivity syndrome includes multidisciplinary approach and involves gonedectomy to avoid gonadal tumors in later life. Hormone replacement therapy (HRT) and psychological support are required in long-term basis.

  20. Recurrent Miller fisher syndrome : a case report.

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    Sitajayalakshmi S

    2002-07-01

    Full Text Available Miller fisher syndrome (MFS is a variant of Guillain-Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with MFS. A case with two episodes of MFS within four years is reported. He presented with findings of ophthalmoplegia, ataxia, areflexia, and oropharyngeal weakness and mild distal sensory impairment during both episodes. Electrophysiological findings showed reduced compound muscle action potentials and sensory nerve action potentials with no evidence of conduction blocks. Nerve biopsy showed segmental demyelination. MRI of brain was normal. He responded well to immunoglobulins during both episodes suggesting that immunomodulating drugs have a role in the treatment of MFS.

  1. Bone status in genetic syndromes: a review.

    Science.gov (United States)

    Stagi, Stefano; Iurato, Chiara; Lapi, Elisabetta; Cavalli, Loredana; Brandi, Maria Luisa; de Martino, Maurizio

    2015-01-01

    More and more data seem to indicate the presence of an increasing number of syndromes and genetic diseases characterized by impaired bone mass and quality. Meanwhile, the improvement of etiopathogenetic knowledge and the employment of more adequate treatments have generated a significant increase in survival related to these syndromes and diseases. It is thus important to identify and treat bone impairment in these patients in order to assure a better quality of life. This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome. In addition, some options for the treatment of the bone status impairment in these patients will be briefly discussed.

  2. Chanarin Dorfman Syndrome: A Case Report

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    Yasemin Ozkale

    2015-09-01

    Full Text Available Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings. [Cukurova Med J 2015; 40(3.000: 614-618

  3. A Rare Variation of the Heterotaxy Syndrome

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    Alper Dilli

    2012-01-01

    Full Text Available Heterotaxy syndrome is a rare, complex, and confusing type of the situs anomalies. It is not possible to estimate the degree of lateralization, isomerism, and rotational variation in these types of cases. Heart and abdominal organ anatomy is specific to the individual, and it should be defined specifically on the basis of each case due to possible cardiac and extracardiac surgical interventions in patients with heterotaxy syndrome. Here, we present our findings obtained from a 58-year-old female patient with heterotaxy syndrome. The main components of this rare variation consist of right-hand-sided aorta, aortic arc, cardiac apex, gall bladder and left-hand-sided inferior vena cava, stomach, and spleen (polysplenia, 3 foci according to the midline. Besides, the components include left-dominant liver, right-hand-sided large intestines, and left-hand-sided small intestines.

  4. Facio-auricular vertebral syndrome-a case report

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    Reddy M

    2005-01-01

    Full Text Available Facio Auricular Vertebral (FAV or Goldenhar syndrome is a very rare kind of syndromic deafness and is inherited as autosomal dominant. A study was taken up to understand the prevalence of this syndrome in children below the age of 14 years with hearing loss. Out of 1073 children with hearing impairment, Goldenhar syndrome was observed only in 1 (0.09% case. The child suffered severe hearing loss. Facial paralysis and hemifacial microsomia were prominent features observed in the child. Facio-Auricular-Vertebral syndrome is therefore synonymously used with Goldenhar syndrome.

  5. A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome

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    Metin Çeliker

    2014-01-01

    Full Text Available Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented.

  6. Fibromyalgia syndrome, a problem of tautology.

    Science.gov (United States)

    Cohen, M L; Quintner, J L

    1993-10-01

    Fibromyalgia syndrome is generally taken to denote a clinical state of widespread musculoskeletal pain, stiffness, and fatigue but its pathophysiology, physical and psychological, is unknown, and the nature of the diagnostically mandatory "tender points" remains obscure. Diagnostic criteria convey no pathophysiological insight and they have been "validated" via a circular argument in which the evidence on which the construct is based is taken as proof of its veracity. The concept of fibromyalgia syndrome is valid only in the sense that it includes all possibilities. An alternative approach to this very real clinical presentation is via secondary hyperalgesia.

  7. A Clinical Perspective of the Takotsubo Syndrome.

    Science.gov (United States)

    Sharkey, Scott W

    2016-10-01

    This article provides a contemporary review of the clinical features of the takotsubo syndrome. The author discusses hallmark elements that distinguish this novel acute cardiac condition from the more common acute coronary syndrome. This review includes relevant clinical detail surrounding findings on ECG, biochemical testing, and cardiac imaging and a discussion of complications, including acute decompensated heart failure, arrhythmias, ventricular thrombi, and left ventricular outflow obstruction. The review concludes with discussion of proper treatment, long-term survival, and recurrence. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Skeletal abnormalities of acrogeria, a progeroid syndrome

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    Ho, A.; White, S.J.; Rasmussen, J.E.

    1987-08-01

    We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of premature aging of the skin without the involvement of internal organs seen in Hutchinson-Gilford progeria syndrome. Acro-osteolysis of the distal phalanges, delayed cranial suture closure with wormian bones, linear lucent defects of the metaphyses, and antegonial notching of the mandible are the predominant skeletal features of the disorder. The skeletal features described in 21 other reported cases of acrogeria are summarized.

  9. Sturge-Weber syndrome: A case study.

    Science.gov (United States)

    Welty, Linda D

    2006-01-01

    Sturge-Weber syndrome (SWS) is a rare, sporadic, progressive, congenital syndrome. In its complete trisymptomatic form, SWS is physically characterized by port-wine stains over the trigeminal area, leptomeningeal angiomas usually over the parieto-occipital region, and eye abnormalities. Clinical manifestation for infants with SWS depends on the affected organs, but can include seizures, mental retardation, and glaucoma. This article begins with a case presentation of an infant with SWS and then presents the etiology, embryology, pathophysiology, clinical presentation, management, and prognosis of SWS.

  10. A multidisciplinary approach to short bowel syndrome.

    Science.gov (United States)

    Denegri, Andrea; Paparo, Francesco; Denegri, Roberto; Revelli, Matteo; Frascio, Marco; Rollandi, Gian Andrea; Fornaro, Rosario

    2014-01-01

    Short bowel syndrome is a complex clinical picture, characterized by signs and symptoms of malabsorption and subsequent malnutrition, which often occurs after extensive bowel resections. Short bowel syndrome's treatment must begin together with the planning of the first surgery, especially for disease that may need multiple interventions. Patients with short bowel should be individually managed because they all are different in diagnosis, length of the remaining bowel and in psychosocial characteristics. For all these reasons, a multidisciplinary approach between the various specialists is therefore needed.

  11. PAPILLON - LEFEVRE SYNDROME : A CASE REPORT

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    Guru Prasad

    2015-01-01

    Full Text Available Papillon - Lefèvre syndrome (PLS is a very rare syndrome of autosomal recessive inheritance characterized by progressive palmar - plantar keratoderma and early onset periodontitis, leading to premature loss of both primary and permanent den titions and recurrent pyogenic infections. Patient Presented with a chief complaint of thickening of palms and soles extending on to knees and elbows.. On intraoral examination there is loss of both temporary and permanent teeth. Patient had recurrent pyog enic infections involving face and nose leading to nasal destruction. Histopathological examination of the specimen taken from the thickened skin was reported to be consistent with PLS 1,2,3

  12. Cardiorenal syndrome in sepsis: A narrative review.

    Science.gov (United States)

    Kotecha, Aditya; Vallabhajosyula, Saraschandra; Coville, Hongchuan H; Kashani, Kianoush

    2017-09-01

    Multi-organ dysfunction is seen in nearly 40-60% of all patients presenting with sepsis, including renal and cardiac dysfunction. Cardiorenal syndrome type-5 reflects concomitant cardiac and renal dysfunction secondary to a systemic condition that primarily affects both organs, such as sepsis. There are limited data on the etiology, pathogenesis and clinical implications of cardiorenal syndrome in sepsis. Cardiac dysfunction and injury can be measured with cardiac biomarkers, echocardiographic dysfunction, and hemodynamic parameters. Acute kidney injury is systematically evaluated using serum creatinine and urine output criteria. This review seeks to systematically describe the epidemiology, risk factors, pathogenesis, diagnosis and management of cardiorenal syndrome type-5 in the setting of sepsis. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. [Cushing's syndrome: review of a national caseload].

    Science.gov (United States)

    Contreras, P; Araya, V

    1995-03-01

    Cushing's syndrome occurs rarely; in analyzing 50 cases studied at our institution we discuss the following aspects: syndromatic diagnosis, etiologic differentiation into the 3 categories of the syndrome, and therapeutic strategies for each variety. We postulate that non-endocrinologists should be responsible for the syndromatic diagnosis, easily done by using 2 simple tools: the measurement of basal free urinary cortisol and the performance of an overnight suppression of the adrenal axis with 1 mg of dexamethasone (Nugent's test). In contrast, the etiologic diagnosis and the therapeutic interventions should be strictly restricted to highly specialized institutions having well seasoned endocrinologists, a reliable endocrine laboratory, easy access to computed tomographies of the brain and abdomen as well as to nuclear resonance imaging of the brain. The usefulness of our in-house devised vasopressin challenge following overnight dexamethasone suppression for the etiologic diagnosis is highlighted. Neurosurgical expertise in the transsphenoidal approach to the pituitary gland as well surgeons well experienced in adrenal surgery are a must to offer a reasonable chance of success to patients with the syndrome. Forty one (82%) of the series were female patients, 78% were pituitary-dependent and 22% pituitary-independent Cushings. Six out of 8 (75%) of the adrenal tumors were carcinomas. Only 3 patients (6%) qualified as ectopic ACTH syndromes. The easiest variety to diagnose and treat was the adrenal adenoma (2 cases); adrenal carcinomas were always incurable. The ectopic ACTH syndrome was amenable to successful medical treatment with ketoconazole or surgical resolution with complete resection of the offending tumor (1 of 3 cases) or bilateral adrenalectomy (2 of 3 cases) Pituitary-dependent Cushings are quite tricky to diagnose and difficult to treat. Transsphenoidal resection of the offending microadenoma was successful in only 43.5% (10/23) of cases and we

  14. Lupus anticoagulant-hypoprothrombinemia syndrome and catastrophic antiphospholipid syndrome in a patient with antidomain I antibodies.

    Science.gov (United States)

    Galland, Joris; Mohamed, Shirine; Revuz, Sabine; de Maistre, Emmanuel; de Laat, Bas; Marie, Pierre-Yves; Zuily, Stéphane; Lévy, Bruno; Regnault, Véronique; Wahl, Denis

    2016-07-01

    Lupus anticoagulant-hypoprothrombinemia syndrome is a rare condition characterized by the association of acquired factor II deficiency and lupus anticoagulant. Contrary to classical antiphospholipid syndrome, it may cause severe life-threatening bleeding (89% of published cases). We report a patient, positive for antidomain I antibodies, with initially primary lupus anticoagulant-hypoprothrombinemia syndrome without previous clinical manifestation or underlying systemic disease. Five years later, he experienced the first systemic lupus erythematous flare. Within a few days, catastrophic antiphospholipid syndrome was diagnosed with heart, liver and kidney involvement. The patient recovered under pulse steroids, intravenous heparin and intravenous immunoglobulins.

  15. Learning about Down Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  16. MOMO syndrome: a possible third case.

    Science.gov (United States)

    Zannolli, R; Mostardini, R; Hadjistilianou, T; Rosi, A; Berardi, R; Morgese, G

    2000-10-01

    This report describes a 5-year-old girl, mildly mentally retarded, with the following characteristics: macrocephaly; severe obesity; ocular abnormalities (right optic disk coloboma and left choroidal coloboma); short stature; and recurvation of the femur. The case is sporadic with no consanguinity between the parents. The condition was diagnosed tentatively as MOMO syndrome (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) (MIM, 157980), because of the presence of short stature, in contrast with the large stature of the only two previously described cases. It is the third possible example of this rare syndrome to be described in the literature, with some new clinical findings presented.

  17. Churg-Strauss syndrome: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Fernandes, Gabriel Lacerda; Reis, Alan Timoteo Rodrigues; Freitas, Ana Carolina Rezende de; Basilio, Dunya Bachour, E-mail: lacerdagabriel@hotmail.com [Hospital de Base do Distrito Federal (HBDF), Brasilia, DF (Brazil); Teixeira, Arivaldo Araujo [Diagnostico das Americas (DASA/Exame-Pasteur), Brasilia, DF (Brazil); Anton, Ana Graziela Santana [Hospital Brasilia, Brasilia, DF (Brazil)

    2014-07-15

    Churg-Strauss syndrome is a rare systemic disease primarily characterized by hypereosinophilia, asthma and vasculitis. The lung is the organ most frequently involved. In the present report, the authors describe a relatively rare finding in this disease - the presence of a pulmonary nodule -, while recalling the main radiological findings and the most relevant differential diagnoses. (author)

  18. Ehlers Danlos SyndromeA Case Report

    Science.gov (United States)

    Kaurani, Pragati; Marwah, Nikhil; Kaurani, Mayank; Padiyar, Narendra

    2014-01-01

    Ehlers Danlos syndrome (EDS) is a hereditary collagen disorder which primarily manifests in the skin and joints. Clinically, it is characterized by hyperelasticity of skin and joint hypermobility. This article has described a rare condition seen in a 10-year-old boy who was diagnosed with EDS, based on the clinical, radiographic and histological findings. PMID:24783151

  19. Roberts-SC syndrome, a rare syndrome and cleft palate repair

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2008-01-01

    Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

  20. Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe: A Case Report from Eastern India

    Directory of Open Access Journals (Sweden)

    Dipankar Das

    2014-01-01

    Full Text Available Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase. The gene coding for this enzyme, OCRL1 and mutations in it are responsible to cause Lowe Syndrome. We report a 6 years old boy from Eastern India, with Lowe Syndrome. Diagnosis was suggested by typical features in the MRI of the brain along with other clinical feature and investigation.

  1. SYNDROME X IN ACUTE CORONARY SYNDROME PATIENTS- A TERTIARY CARE CENTER STUDY

    Directory of Open Access Journals (Sweden)

    Yogendra

    2015-12-01

    Full Text Available Metabolic Syndrome (MS or insulin resistance syndrome is commonly defined as a group of risk factors or abnormalities associated with insulin resistance that markedly increased risk for both coronary heart disease and diabetes. Cardiovascular disease and all-cause mortality, even in the absence of baseline CVD and diabetes. Early identification, treatment and prevention of the metabolic syndrome present a major challenge for health care professionals facing an epidemic of overweight and sedentary lifestyle. AIMS AND OBJECTIVES To study the prevalence of metabolic syndrome in pts. with Acute Coronary Syndrome (ACS and its effect on hospital outcomes. MATERIALS AND METHODS Observational study in 55 cases (28 cases and 27 controls was conducted in Dr. BRAMH, Raipur and each patient was assessed with detailed clinical history and was also assessed for parameters of MS. The cases and controls were also followed up during their hospital stay for the presence of or development of heart failure, arrhythmias, shock and death. Chi square and ‘t’ test were used to analyse obtained data. RESULTS AND CONCLUSIONS In the present study sex ratio amongst the cases was (M:F 1.15:1 and 2.6:1 in controls. Maximum patients were between the ages of 50-60. Non-ST elevation MI was more common in patients with metabolic syndrome and they presented late to the hospital for treatment. Hypertension and fasting hyperglycemia are the most prevalent components of metabolic syndrome in patients of acute coronary syndrome. Our Study also suggests that hypertriglyceridemia is the most common lipid abnormality in patients of acute coronary syndrome. An increase in the incidence of heart failure was observed in patients with metabolic syndrome Cardiogenic shock is seen with increased frequency in patients with metabolic syndrome. Case fatalities were seen with equal frequency in both the groups, hence metabolic syndrome is not associated with increased case fatality while

  2. Rett Syndrome: A Review of Current Knowledge.

    Science.gov (United States)

    Van Acker, Rick

    1991-01-01

    This review describes Rett syndrome as a disorder afflicting females and characterized by a progressive loss of cognitive and motor skills and development of stereotypic hand movements. The paper discusses its clinical manifestations, etiology, diagnostic criteria and differential diagnosis, prevalence, pathogenesis, treatment, and educational…

  3. Hermansky-Pudlak syndrome: A case report

    Directory of Open Access Journals (Sweden)

    R Vani

    2014-01-01

    Full Text Available Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin. The major complications of this disorder are pulmonary fibrosis (PF and colitis. This is a case report of an HPS patient with PF.

  4. Dyke Davidoff Masson Syndrome: A case report

    Directory of Open Access Journals (Sweden)

    More Sumeet S, Jadhav Aravinash L, Garkal Shailendra M, Tewari Suresh C

    2013-04-01

    Full Text Available Dyke-Davidoff-Masson syndrome (DDMS is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. We report a case of DDMS in an 18years old girl who presented with a history of generalized tonic – clonic seizures, hemiparesis and hemiatrophy of right side.

  5. [Plummer-Vinson syndrome: a case report].

    Science.gov (United States)

    Dias, Iana Silva; Costa, Francisco Assis; Borges, Alana Costa; Correia, Edenilce Evangelista; Macedo, Márcio Falcão

    2013-01-01

    We present a case of Plummer-Vinson syndrome, which is a rare condition nowadays. The diagnosis was made after years of the disease, many doctors having attended the patient. The treatment consisted of oral supplementation of iron and endoscopic dilatations. The patient is asymptomatic.

  6. ALPORT’S SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Vishal

    2013-01-01

    Full Text Available ABSTRACT: Alport's syndrome is considered to be a widespread di sorder of basement membrane, clinically characterised by haematuric ne phritis, sensorineural deafness and ocular manifestations. Here we report a case of Alport’s syn drome with all the characteristic features

  7. Turner-like Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    M.R. Velletri

    2013-10-01

    Full Text Available A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.

  8. [Turner-like syndrome: a case report].

    Science.gov (United States)

    Velletri, M R; Valenzise, M; Wasniewska, M; Arasi, S; Santisi, A; Romeo, M; Pitrolo, E; Santucci, S; Corica, D; Crisafulli, R; Zirilli, G

    2013-01-01

    A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.

  9. The metabolic syndrome: a brain disease?

    NARCIS (Netherlands)

    Buijs, R.M.; Kreier, F.

    2006-01-01

    The incidence of obesity with, as consequence, a rise in associated diseases such as diabetes, hypertension and dyslipidemia--the metabolic syndrome--is reaching epidemic proportions in industrialized countries. Here, we provide a hypothesis that the biological clock which normally prepares us each

  10. Fetal hydantoin syndrome: A case report

    National Research Council Canada - National Science Library

    Singh, A; Bhatia, HP; Mohan, A; Sharma, N

    2016-01-01

    ... it becomes mandatory to take anticonvulsants on regular basis during pregnancy. Fetal hydantoin syndrome (FHS) is a fetopathy likely to occur when a pregnant women takes hydantoin for epileptic seizures. Hanson and Smith in 1975 coined the term FHS. [4] Its classical features include growth and developmental delay, craniofacial anomalies, varying ...

  11. Rett Syndrome: A Longitudinal Developmental Case Report.

    Science.gov (United States)

    Garber, Norman; Veydt, Nicole

    1990-01-01

    The clinical course of development of a 14-year-old girl with Rett Syndrome is outlined. Results indicated a general stagnation in gross and fine motor skills, self-help skills, communication, and cognition, beginning at approximately 15 months. No skills progressed beyond the 2-year level despite several years of intensive intervention.…

  12. Liddle′s syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Pranav Patel

    2015-01-01

    Full Text Available Liddle′s syndrome or pseudoaldosteronism is a rare autosomal dominant disease mimicking primary hyperaldosteronism, characterized by early-onset hypertension, hypokalemia and hypoaldosteronism, caused by excessive salt and water reabsorption in the distal nephron. As of 2008, there are <30 pedigrees or isolated cases that have been reported worldwide. We present an isolated case of a Liddle′s syndrome in a 48-year-old female. A 48-year-old female presented to the clinic with palpitation and a three to four-year history of low potassium level and hypertension. She was initially treated with a high potassium diet and potassium supplements. Her cardiac work-up including echocardiography, stress test and Holter monitoring were all negative. After a few months, she was admitted to the hospital with an acute hypertensive episode and hypokalemia. On evaluation, she was found to have low renin and aldosterone levels. Liddle′s syndrome was considered with the clinical picture of hypokalemia, hypertension and low renin/ aldosterone level. The patient was successfully treated with a high potassium diet, triamterene and atenolol. Liddle′s syndrome should be considered as the differential diagnosis in patients presenting with the clinical picture of hypokalemia, hypertension and low renin/aldosterone level.

  13. The medial tibial stress syndrome. A cause of shin splints.

    Science.gov (United States)

    Mubarak, S J; Gould, R N; Lee, Y F; Schmidt, D A; Hargens, A R

    1982-01-01

    The medial tibial stress syndrome is a symptom complex seen in athletes who complain of exercise-induced pain along the distal posterior-medial aspect of the tibia. Intramuscular pressures within the posterior compartments of the leg were measured in 12 patients with this disorder. These pressures were not elevated and therefore this syndrome is a not a compartment syndrome. Available information suggests that the medial tibial stress syndrome most likely represents a periostitis at this location of the leg.

  14. CREST syndrome and periodontal surgery: a case report.

    Science.gov (United States)

    Stanford, T W; Peterson, J; Machen, R L

    1999-05-01

    CREST syndrome is a slowly progressive form of systemic scleroderma. It is characterized by calcinosis cutis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia. There are limited reports of dental treatment for patients with this syndrome, and no reports of periodontal surgical procedures. This paper presents a case report of periodontal surgical treatment in a 38-year-old female patient with CREST syndrome, and a discussion of the clinical manifestations of the syndrome as they relate to dental treatment.

  15. Is Rett Syndrome a Subtype of Pervasive Developmental Disorders?

    Science.gov (United States)

    Tsai, Luke Y.

    1992-01-01

    This paper reviews whether Rett syndrome is a subtype of pervasive developmental disorders (PDD). The paper analyzes internal and external diagnostic validity and discusses whether Rett syndrome is a neurological disorder or a mental disorder. The paper concludes that data support the idea of classifying Rett syndrome as a subtype of PDD.…

  16. Compartment Syndrome of the Hand: A Little Thought about Diagnosis

    Science.gov (United States)

    Reichman, Eric F.

    2016-01-01

    Compartment syndrome of the forearm is a well described entity but there have been relatively few case reports in the emergency medicine literature of hand compartment syndromes (HCS). Prompt recognition and treatment of this potential limb threat are essential to minimize morbidity and mortality. Presented is a case of a documented hand compartment syndrome following a motor vehicle collision. PMID:27293917

  17. A patient of terson's syndrome for ocular surgery: Perianesthetic concerns.

    Science.gov (United States)

    Khanna, Puneet; Baidya, Dalim Kumar; Garg, Rakesh; Shende, Dilip

    2013-01-01

    Terson's syndrome may be challenging for the anesthesiologist in view of its multisystem involvement including neurological, cardiovascular, and ophthalmological involvement. We describe anesthetic management of a 55-year-old male having Terson's syndrome for pars plana viterctomy.

  18. Raising a child with down's syndrome: perspectives from South ...

    African Journals Online (AJOL)

    Keywords: Down's syndrome, caregivers, perceptions, emotional responses. ... it comes to the dynamics of interpersonal relationships between the child with DS and ... globally, there is the hope that a greater understanding of the syndrome ...

  19. Rett Syndrome: A Comprehensive Review of the Literature.

    Science.gov (United States)

    Perry, Adrienne

    1991-01-01

    This nontechnical review of the literature on Rett Syndrome, a developmental disability found only in females, examines the syndrome's history, diagnostic criteria, clinical stages, incidence, differential diagnosis, etiology, genetics, treatment approaches, and prognosis. (Author/DB)

  20. STURGE WEBER SYNDROME WITH UNUSUAL INTRACRANIAL FINDINGS: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Shailendra Kumar

    2014-04-01

    Full Text Available The Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare vascular neurocutaneous alteration. The main clinical features of this syndrome are facial vascular cutaneous naevus, usually unilateral, which often follows the outline distribution of trigeminal nerve. We hereby are reporting a clinical case of Sturge-Weber Syndrome in a 16 year old female patient who presented with oral, cutaneous and ocular manifestations related to the syndrome.

  1. Non-Syndromic Multiple Odontogenic Keratocyst: A Case Report

    Directory of Open Access Journals (Sweden)

    Kargahi N.

    2013-09-01

    Full Text Available Odontogenic keratocyst (OKC is a common developmental odontogenic cyst affecting the maxillofacial region. Multiple OKCs are usually seen in association with nevoid basal cell carcinoma syndrome (NBCCS but approximately 5% of patients with OKC have multiple cysts without concomitant syndromic presentation. This report represents a case of multiple OKCs in a non-syndromic patient.

  2. ADULT VARIANT BARTTER’S SYNDROME- A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ishwar Sidappa Hasabi

    2017-02-01

    Full Text Available BACKGROUND Bartter syndrome is a group of channelopathies with different genetic origins and molecular pathophysiologies, but sharing common feature of decreased tubular transport of sodium chloride in thick ascending loop of Henle (TAL, 1 although more common in antenatal group. Classic adult variant of Bartter syndrome is a rare entity. We hereby present a rare adult variant of classic Bartter syndrome.

  3. Moebius syndrome and narcolepsy: A case dissertation

    Directory of Open Access Journals (Sweden)

    Lídia Sabaneeff

    2014-03-01

    Full Text Available Moebius syndrome (MS is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy.

  4. IgA Antibodies in Rett Syndrome

    Science.gov (United States)

    Reichelt, K. L.; Skjeldal, O.

    2006-01-01

    The level of IgA antibodies to gluten and gliadin proteins found in grains and to casein found in milk, as well as the level of IgG to gluten and gliadin, have been examined in 23 girls with Rett syndrome and 53 controls. Highly statistically significant increases were found for the Rett population compared to the controls. The reason for this…

  5. Asherman syndrome in a Danish population

    DEFF Research Database (Denmark)

    Kjer, Jens J

    2014-01-01

    Intrauterine adhesions (Asherman syndrome) are rare and mainly seen after delivery or abortion in the presence of retained placental tissue. This descriptive study aimed to identify common risk factors for intrauterine adhesions. In a 10-year period 61 women were identified with intrauterine adhe...

  6. Ovarian hyper stimulation syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Arti Patidar

    2016-07-01

    Full Text Available We present here a rare case ovarian hyper stimulation syndrome. In the case patient came with complain of abdominal pain, distension, nausea, vomiting with known case of secondary infertility. [Int J Reprod Contracept Obstet Gynecol 2016; 5(7.000: 2418-2420

  7. Lesch-Nyhan Syndrome: A Review.

    Science.gov (United States)

    Libby, J. Dawn; And Others

    1983-01-01

    Recent research on the Lesch-Nyhan syndrome, a disorder of metabolism, in terms of etiology and characteristics, biomedical treatment options, behavior modifications, daily management concerns, and educational intervention. Specific attention is given to alternatives for dealing with self-injurious behavior in those individuals affected by the…

  8. Kleine-Levin syndrome: a review

    OpenAIRE

    Guilleminault C; Miglis MG

    2014-01-01

    Mitchell G Miglis, Christian Guilleminault Stanford University Sleep Medicine Division, Stanford Outpatient Medical Center, Redwood City, CA, USA Abstract: Kleine-Levin syndrome is a recurrent hypersomnia associated with symptoms of hyperphagia, hypersexuality, and cognitive impairment. This article reviews the current available research and describes common clinical symptoms, differential diagnosis, and acceptable workup and treatment. Although deficits have traditionally been thought to re...

  9. IgA Antibodies in Rett Syndrome

    Science.gov (United States)

    Reichelt, K. L.; Skjeldal, O.

    2006-01-01

    The level of IgA antibodies to gluten and gliadin proteins found in grains and to casein found in milk, as well as the level of IgG to gluten and gliadin, have been examined in 23 girls with Rett syndrome and 53 controls. Highly statistically significant increases were found for the Rett population compared to the controls. The reason for this…

  10. Polydactyly in a boy with Smith-Magenis syndrome.

    Science.gov (United States)

    Mariannejensen, Lisbeth; Kirchhoff, Maria

    2005-10-01

    Smith-Magenis syndrome is a microdeletion syndrome involving chromosome 17p11.2. The characteristic features include mental retardation, dysmorphic facial features, minor skeletal anomalies including brachydactyly and behavioural abnormalities, such as disturbed sleep pattern, restlessness and self-destructive behaviour. We present a patient with this syndrome and with six digits on each hand. Polydactyly has not yet been described in Smith-Magenis syndrome as far as we know.

  11. Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.

    Science.gov (United States)

    Okumus, N; Zenciroglu, A; Demirel, N; Bas, A Y; Ceylaner, S

    2008-01-01

    Lenz microphthalmia syndrome was first described by Lenz et al. in 1955 (9). The cardinal features of the syndrome are microphthalmia or anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, dental and genitourinary anomalies. Here we present a case of Lenz microphthalmia syndrome that shows the typical characteristics and, additionally, macrophallus, a broad chest with widely spaced nipples, wide gap between first and second toes, which are unusual manifestations in Lenz Microphthalmia Syndrome.

  12. A Case with Recurrent Facial Palsy: Melkersson-Rosenthal Syndrome

    Directory of Open Access Journals (Sweden)

    Derya Fatma Bulut

    2014-08-01

    Full Text Available Melkersson-Rosenthal syndrome (MRS is a rare neuromucocutaneous syndrome characterized by recurrent facial paralysis, orofacial edema and fissured tongue. Oligosymptomatic and monosymptomatic forms are more common than the triad. The presence of two manifestations or one manifestation with granulomatous cheilitis in biopsy is sufficient to make diagnosis of Melkersson-Rosenthal syndrome. We present a 12 years-old male who is diagnosed Melkersson-Rosenthal syndrome. [Cukurova Med J 2014; 39(4.000: 918-921

  13. Re-emergence of a rare syndrome: A case of mauriac syndrome

    Directory of Open Access Journals (Sweden)

    Manish Gutch

    2013-01-01

    Full Text Available Mauriac syndrome is a rare syndrome associated with type 1 diabetes (T1DM in children presenting with growth retardation, hepatomegaly, and cushingoid features. Recently, there has been re-emergence of this syndrome, especially with the use of premix insulin. A 15-year old type 1 diabetic boy, who was on premix insulin with erratic blood glucose, was referred to us for evaluation of short stature. He had significant short stature, hepatomegaly, and cushingoid features. His growth hormone (GH stimulation was normal, and so was the overnight dexamethasone suppression test, based on which the diagnosis of Mauriac syndrome was reported. He was made to switch over to basal bolus regime, and was advised to follow-up for 6 months. He had reduction in hepatomegaly and a height gain of 3 cms.

  14. Hutchinson-Gilford progeria syndrome: a rare case report

    Directory of Open Access Journals (Sweden)

    Kalegowda Deepadarshan

    2016-04-01

    Full Text Available Progeroid syndromes are characterised by clinical features of physiological aging at an early age. Hutchinson-Gilford progeria syndrome is a type of progeroid syndrome, characterised by abnormal facies, bone abnormalities, sclerodermatous skin changes and retarded physical development. Average life expectancy of progeria patients is 13 years. Herein we are reporting a case of progeria who is 21 years old.

  15. Pourfour du Petit Syndrome in a Patient with Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Sergi Martinez-Ramirez

    2010-07-01

    Full Text Available The clinical presentation of Pourfour du Petit syndrome (PdPs is the opposite of Horner syndrome. Although all disorders underlying Horner syndrome may potentially present as PdPs, very few cases of the latter have been described in the literature. We report a patient with PdPs due to carotid compression by a thyroid tumor.

  16. [Charles Bonnet syndrome: a case presentation].

    Science.gov (United States)

    Cumurcu, Tongabay; Elbozan Cumurcu, Birgül; Cam Celikel, Feryal

    2005-01-01

    Charles Bonnet syndrome comprises the triad of visual hallucinations, visual sensory deprivation, and preserved cognitive status. This paper discusses a case diagnosed as Charles Bonnet syndrome, involving visual hallucinations secondary to bilateral primary optic atrophy. An 80-year-old female with normal cognitive functions in the presence of primary optic atrophy and visual hallucinations was diagnosed with Charles Bonnet syndrome. The patient, having had poor vision since childhood, had lost it totally in the last year. Her vision had not improved following cataract operations in both eyes 6 months previously. Her vision was at the level of hand movements. In biomicroscopic examination, bilateral pseudoaphakia was found. Since fundus examination showed bilateral primary optic atrophy in the presence of visual hallucinations, a psychiatric consultation was requested. In her psychiatric examination, she had had hallucinations for the last two years, first elementary and then complex in character. Her cognitive functions were normal with no pathology in her neurologic examination. Routine investigations and neuroradiologic examinations were normal. She had no past history of any personal or familial psychiatric or systemic physical disorder. She was given olanzapine 5 mg daily and was followed up. This syndrome, defined as visual hallucinations in the presence of preserved cognitive functions and deprived vision, requires further research.

  17. A RARE FAMILIAL CASE REPORT OF NAIL-PATELLA SYNDROME

    Directory of Open Access Journals (Sweden)

    Rakesh

    2014-10-01

    Full Text Available Nail-patella syndrome is a rare genetic disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia (HOOD syndrome, Fong’s syndrome, Turner-Kieser syndrome. (1 Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic. In this case report we have described almost all the radiographic features of nail-patella syndrome including the pathognomic iliac horns and other skeletal features including absent or hypoplastic patellae, elbow abnormalities, as seen on radiographs. The magnetic resonance imaging (MRI of the features of this syndrome has been mentioned in only one report, (2 however, no images were actually presented. Considering the hereditary nature (autosomal dominant of the syndrome we wanted to rule out whether any other member in the family are involved and to our surprise we found two other members(mother and elder brother in the family with similar features.

  18. Syndromic albinism: a review of genetics and phenotypes.

    Science.gov (United States)

    Scheinfeld, Noah S

    2003-12-01

    There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome (CMBS). In the last several years the genetic defects underlying some of these syndromes have been described. HPS is related to 7 genes in humans. GS is related to 3 genes: MYOVA, Rab-27A, and melanophilin (Mlph). CHS is related to one gene: LYST. The genetic defects in ES and CMBS are yet to be defined. Syndromic forms of albinism are associated with defects in the packaging of melanin and other cellular proteins. As such they are distinct from oculocutaneous albinism, which is associated with defects in the production of melanin (e.g., TRP1, P gene, and tyrosinase).

  19. Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1.

    Directory of Open Access Journals (Sweden)

    Hosalkar H

    1999-10-01

    Full Text Available In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 and type 2, it is important to establish a correct diagnosis in these patients. A case of type II oro-facio-digital syndrome is being reported and the distinguishing clinicoradiological features with type I are compared.

  20. Ekiri syndrome: a report of 13 cases

    Directory of Open Access Journals (Sweden)

    Rahbarimanesh AA

    2009-02-01

    Full Text Available "nBackground: Ekiri syndrome or lethal toxic encephalopathy is a complication of shigellosis with dysentery, hyperpyrexia, seizures, headache and altered level of consiousness, which rapidly progresses to death. These children die at the beginning of the disease (8-48 hours from the beginning of symptoms, from brain edema. However they had no symptoms or signs of sepsis, dehydration, DIC or Hemolytic Uremic Syndrome (HUS. "nMethods: This survey is a case series study of children with Ekiri syndrome in Bahrami hospital from October 1998-2008 presented with loss of consciousness, colitis and high fever shortly after admission. Information about the patients was gathered from the documents according to physical signs and symptoms, lab data of those whom Ekiri syndrome had been diagnosed for them. Studied variables in this assessment were age, sex, fever, convulsions and loss of consciousness. Headache, encephalopathy, dehydration, elevated ICP, colitis, underline disease, stool, blood and CSF cultures. "nResults: The subjects contain 13 cases (10 male, 3 female, averaged 30/5 months of age. All had seizure, elevated ICP, encephalopathy and coma. All of the patients had fever between 39 and 40, averaged 39.5 degree of centigrade. Seven patients had headache and three ones was dehydrated. The first presentation symptom in three patients was gastroenteritis, in 9 was siezure and in 1 patient was headache. Stool culture in all patients was positive, but blood culture was positive in only one of them. CSF culture was negative in all of the patients. Mortality was 100%. "nConclusion: Symptoms, signs and presentation of Ekiri syndrome, a rare complication of infection with shigella, in the patients in Bahrami hospital was similar with the other studies beforehand in other countries. In this study, all the patients were died and supportive treatments were ineffective.

  1. A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

    Directory of Open Access Journals (Sweden)

    Christina E. Brzezniak

    2017-04-01

    Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

  2. A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome.

    Science.gov (United States)

    Brzezniak, Christina E; Vietor, Nicole; Hogan, Patricia E; Oronsky, Bryan; Thilagar, Bennett; Ray, Carolyn M; Caroen, Scott; Lybeck, Michelle; Oronsky, Neil; Carter, Corey A

    2017-01-01

    Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH) secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS). Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

  3. Dancing with Down Syndrome: A Phenomenological Case Study

    Science.gov (United States)

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  4. The abdominal compartment syndrome : A complication with many faces

    NARCIS (Netherlands)

    Berger, P.; Nijsten, MWN; Paling, JC; Zwaveling, JH

    2001-01-01

    Background: Lately renewed attention has been given to the abdominal compartment syndrome. Despite of this there still remain a lot of controversies with regard to the pathophysiological mechanisms underlying this syndrome and the therapeutic options. Methods: Two cases of patients with this syndrom

  5. A rare cause of acromegaly: McCune-Albright syndrome

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    Erdal Bodakçi

    2015-06-01

    Full Text Available McCune-Albright syndrome is characterized by polyostatic fibrous dysplasia, brown spots on the skin (café au lait pigmentation and autonomous endocrine hyperfunction. Early puberty and other endocrinological manifestations, such as acromegaly, gigantism and hypercortisolism are widely observed in the syndrome. Acromegaly is seen in 20% of patients. We report a case of acromegaly accompanied with this syndrome.

  6. Dancing with Down Syndrome: A Phenomenological Case Study

    Science.gov (United States)

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  7. CHARGE syndrome : a review of the immunological aspects

    NARCIS (Netherlands)

    Wong, Monica Ty; Scholvinck, Elisabeth H.; Lambeck, Annechien Ja; van Ravenswaaij-Arts, Conny Ma

    2015-01-01

    CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been describ

  8. Odontogenic Keratocysts in Gorlin-Goltz Syndrome: A Case Report.

    Science.gov (United States)

    Chandran, Satheesh; Marudhamuthu, Karthikeyan; Riaz, R; Balasubramaniam, Saravanan

    2015-01-01

    Gorlin-Goltz syndrome is an autosomal dominant inherited condition comprising the principle triad of basal cell carcinomas, multiple jaw keratocysts, and skeletal anomalies. The presence of jaw cysts are the early diagnostic feature of this syndrome, and this can be incidentally identified by routine radiographs. A patient presented with signs and symptoms of Gorlin-Goltz syndrome to us in her early stages.

  9. KARTAGENER’S SYNDROME: A RARE CASE REPORT

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    Satish Prasad

    2015-01-01

    Full Text Available Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure or function leading to impaired mucociliary clearance. The findings of CT thorax, abdomen and PNS support the clinical diagnosis of the Kartageners Syndrome. We report the CT findings of this rare syndrome.

  10. Sweet′s Syndrome Leading To Acquired Cutis Laxa (Marshall′s Syndrome In A Child

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    Narayanan Meenakshi

    2004-01-01

    Full Text Available Acute febrile neutrophilic dermatosis (AFND, commonly known as Sweet’s syndrome, is a disorder seen in adult females, being extremely rare in children. Typical features include spiky fever, sudden eruption of raised painful erythematous to plum-colored nodules and plaques, neutrophilic leucocytosis, a dermal neutrophili infiltrate an a rapid response to systemic steroid. The eruption is believed to represent a hypersensitivity reaction to an antecedent infection or malignancy. There have been rare reports of acquired cutis laxa (Marshall’s syndrome following Sweet’s syndrome. We report one such case of Sweet’s syndrome leading to acquired cutis laxa (Marshall’ syndrome in a child.

  11. A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome.

    Science.gov (United States)

    Thakur, Arpita Rai; Naikmasur, Venkatesh G

    2014-04-01

    The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the 'Robinow-Sorauf' families are examples of variable expression of the TWIST mutant phenotype and that the 'Robinow-Sorauf' syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female patient exhibiting classical clinical and radiological features of Robinow-Sorauf phenotype of Saethre-Chotzen syndrome. A brief review of previously reported cases and nosology has been presented.

  12. Pathways to Language: A Naturalistic Study of Children with Williams Syndrome and Children with Down Syndrome

    Science.gov (United States)

    Levy, Yonata; Eilam, Ariela

    2013-01-01

    This is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1[multiplied by]0 to 4[multiplied by]4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS,…

  13. Pathways to Language: A Naturalistic Study of Children with Williams Syndrome and Children with Down Syndrome

    Science.gov (United States)

    Levy, Yonata; Eilam, Ariela

    2013-01-01

    This is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1[multiplied by]0 to 4[multiplied by]4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS,…

  14. A Comparative Study of Educational Provision for Children with Neurogenetic Syndromes: Parent and Teacher Survey

    Science.gov (United States)

    Reilly, C.; Senior, J.; Murtagh, L.

    2015-01-01

    Background: A number of neurogenetic syndromes have a high association with special educational needs including fragile X syndrome (FXS), Prader-Willi syndrome (PWS), Williams syndrome (WS) and Velo-Cardio-Facial syndrome (VCFS). There is a paucity of research on educational provision for children affected by these syndromes. Method: Parents…

  15. Alien Limb Syndrome Responsive to Amantadine in a Patient with Corticobasal Syndrome

    Science.gov (United States)

    Gondim, Francisco de Assis Aquino; Tavares Júnior, José Wagner Leonel; Morais, Arlindo A.; Sales, Paulo Marcelo Gondim; Wagner, Horta Goes

    2015-01-01

    Background Corticobasal syndrome (CBS) is a complex neurodegenerative disorder associated with parkinsonism and alien limb syndrome. Dressing and ideomotor apraxia were reportedly responsive to amantadine. Case Report A 79-year-old female was referred for evaluation of right hemiparesis. Neurological examination showed dementia, normal ocular movements, mild facial hypomimia, and bradykinesia with right hemiparesis. Nine years later, she developed alien limb syndrome and was diagnosed with CBS. After failure to respond to several medications, alien limb syndrome markedly improved with amantadine. Discussion To the best of our knowledge, this is the first report of a consistent response of severe, forced dystonic alien limb syndrome to amantadine in a patient with CBS. PMID:26217545

  16. Irritable Bowel Syndrome in a Population of African Patients

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    Sylvester Chuks Nwokediuko

    2012-01-01

    Full Text Available Background. Functional dyspepsia is the prototype functional gastrointestinal disorder. This study was designed to determine its prevalence, subtypes, and risk factors associated with the subtypes. Method. Patients with upper gastrointestinal symptoms who presented for endoscopy were administered a questionnaire containing the functional dyspepsia and irritable bowel syndrome modules of the Rome III diagnostic criteria. Results. Of 192 patients who had functional dyspepsia, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes accounted for 79.2%, 62.5%, and 50%, respectively. Multivariate analysis of the risk factors showed that independent predictors of postprandial distress syndrome were alcohol and irritable bowel syndrome while irritable bowel syndrome was independent predictor of epigastric pain syndrome. Alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs were independent predictors of cooccurrence of postprandial distress syndrome and epigastric pain syndrome. Conclusion. Functional dyspepsia accounts for 62.5% of dyspepsia in a population of black African patients. Regarding symptomatology, epigastric pain syndrome, postprandial distress syndrome, and combination of the two subtypes account for 79.2%, 62.5%, and 50%, respectively. Risk factors for functional dyspepsia are irritable bowel syndrome, alcohol, smoking, and use of nonsteroidal anti-inflammatory drugs.

  17. Moyamoya Syndrome: A Window of Moyamoya Disease

    OpenAIRE

    2015-01-01

    Moyamoya-like vasculopathy develops in association with various systemic diseases and conditions, which is termed moyamoya syndrome. Relatively common diseases and conditions are related to moyamoya syndrome, including neurofibromatosis type 1, Down syndrome, thyroid disease, and cranial irradiation. Moyamoya syndrome shares phenotypical characteristics with idiopathic moyamoya disease. However, they differ in other details, including clinical presentations, natural history, and treatment con...

  18. A case of Pallister-Killian syndrome associated with West syndrome.

    Science.gov (United States)

    Yamamoto, Hitoshi; Fukuda, Miho; Murakami, Hiroshi; Kamiyama, Noriko; Miyamoto, Yusaku

    2007-09-01

    We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome. The child was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of fetal macrosomia. He was observed to have nystagmus, craniofacial dysmorphism, and mental retardation. Intractable epileptic spasms developed 17 months after birth, and electroencephalography revealed a modified hypsarrhythmia. The seizures were uncontrollable with sodium valproate monotherapy. At the age of 19 months, the child was diagnosed with Pallister-Killian syndrome of mosaic tetrasomy 12p by fluorescence in situ hybridization. Combination treatment with high-dose pyridoxal phosphate and sodium valproate eliminated seizures and improved the electroencephalographic abnormalities. To our knowledge, this is the first reported case of Pallister-Killian syndrome associated with West syndrome.

  19. Temporomandibular joint disfunction syndrome and myofascial pain dysfunction syndrome: a critical review.

    Science.gov (United States)

    Moss, R A; Garrett, J C

    1984-01-01

    Temporomandibular joint (TMJ) dysfunction syndrome and myofascial pain dysfunction (MPD) syndrome have been primarily viewed as dental problems and have only recently received close attention by psychologists. The literature reviewed in the present paper reveals that a substantial portion of the population is affected by these disorders. There is, however, a great deal of confusion that exists in relation to the aetiology and treatment of these syndromes. In an attempt to clarify the current understanding of these disorders, the present review first presents a discussion of the symptoms which comprise each of these syndromes and the proposed physiological mechanisms associated with each symptom. Next, the aetiological theories for each of these syndromes are reviewed and critically evaluated. Treatments which have been derived from the theoretical models are then discussed. Finally, methodological considerations involving classification, assessment and treatment issues are presented and future research needs are outlined.

  20. Anaesthetic implications in a patient with Morquio A syndrome

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    Charu Mahajan

    2015-01-01

    Full Text Available In patients with Morquio A syndrome, almost all the systems of body are affected and this has a bearing on their anaesthetic management. Herein, we describe the management of child with Morquio A syndrome with atlanto-axial dislocation who underwent posterior fixation under general anaesthesia.

  1. Early postpartum hyponatremia in a patient with transient Sheehan's syndrome.

    Science.gov (United States)

    Munz, W; Seufert, R; Knapstein, P-G; Pollow, K

    2004-05-01

    In modern day health care, Sheehan's syndrome is a rare disorder affecting the postpartum period. We present a case of a 33-year-old woman with atonic hemorrhage developing a transient Sheehan's syndrome associated with hyponatremia six days postpartum. Evaluation of cranial computer tomography and magnetic resonance imaging of the pituitary demonstrated normal finding. Immediate replacement therapy using sodium, chloride, hydrocortisone, fludrocortisone and levothyroxine revealed regression of the Sheehan's syndrome to complete recovery. The present report shows that Sheehan's syndrome can be associated with hyponatremia and illustrates the need to include hyponatremia as an initial symptom in the differential diagnosis of Sheehan's syndrome.

  2. Fetal hydantoin syndrome: A case report

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    A Singh

    2016-01-01

    Full Text Available Fetal hydantoin syndrome (FHS is a spectrum of defects caused to the developing fetus by exposure to the teratogenic effects of antiepileptic drug (AED phenytoin during pregnancy. Its clinical manifestations include limb abnormalities, ocular defects, central nervous system anomalies, intrauterine growth restriction, and hand and phalangeal anomalies. This case report presents an 8-year-old child born to an epileptic mother with a history of AED therapy, with features suggestive of FHS.

  3. Laugier-Hunziker Syndrome: A Case Report

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    Demet Kartal

    2011-09-01

    Full Text Available Laugier-Hunziker syndrome (LHS is a rare, acquired mucocutaneous hyperpigmentation often associated with longitudinal melanonychia. It is important to differentiate this condition from the pigmentary disorders of the oral mucosa. The correct clinical identification avoids the need for invasive investigations. A 32-year-old female presented with a number of variably sized, hyperpigmented macules over the oral mucosa and longitudinal melanonychia. Herein, we report a case of LHS and discuss the conditions related with pigmented mucocutaneous lesions.

  4. A strange case of Evans syndrome

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    Manuel Monti

    2013-12-01

    Full Text Available Evans syndrome is a rare autoimmune disease presenting hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. It can have an extremely serious disease course and, in rare cases, this can even be life-threatening. First-line treatment consists of steroids and/or immunoglobulin. Further therapy with rituximab, vincristine, cyclophosphamide and other immunosuppressive drugs can be considered in unresponsive patients. We report a case of Evans syndrome in a 54-year old woman admitted to the Emergency Department (ED for asthenia. Etiopathogenic, clinical, therapeutic and evolutive aspects are discussed. In contrast to many cases described in the literature, our patient had a satisfactory response to corticoids. We also discuss how to make a specific diagnosis, even in a suburban ED with limited resources, in order to admit patients to the appropriate hospital department and allow the correct therapy to be started as early as possible.

  5. Hermansky-Pudlak Syndrome: A Case Report

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    Ilhami Berber

    2014-01-01

    Full Text Available Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

  6. Prevention of Ovarian Hyperstimulation Syndrome: A Review

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    Vinayak Smith

    2015-01-01

    Full Text Available The following review aims to examine the available evidence to guide best practice in preventing ovarian hyperstimulation syndrome (OHSS. As it stands, there is no single method to completely prevent OHSS. There seems to be a benefit, however, in categorizing women based on their risk of OHSS and individualizing treatments to curtail their chances of developing the syndrome. At present, both Anti-Müllerian Hormone and the antral follicle count seem to be promising in this regard. Both available and upcoming therapies are also reviewed to give a broad perspective to clinicians with regard to management options. At present, we recommend the use of a “step-up” regimen for ovulation induction, adjunct metformin utilization, utilizing a GnRH agonist as an ovulation trigger, and cabergoline usage. A summary of recommendations is also made available for ease of clinical application. In addition, areas for potential research are also identified where relevant.

  7. Hemophagocytic syndrome: a dilemma chasing the intensivists

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    Adriana Façanha Queiroz

    2015-03-01

    Full Text Available Hemophagocytic lymphohistiocytosis or hemophagocytic syndrome is represented by an uncontrolled inflammatory response characterized by marked histiocyte activation and a cytokine storm. The entity may present a primary or genetic type, and the secondary type is usually triggered by infectious diseases of any kind, autoimmune disease, or neoplasia. This entity, although well described and with definite diagnostic criteria, still remains misdiagnosed because of the overlap presentation with other inflammatory processes. The authors present the case of a 13-year-old girl who was submitted to an appendicectomy complicated with a pericolic abscess, which required a second operation in order to be drained surgically. During the postoperative period of this second surgical procedure, the patient remained febrile, developing cytopenias, and multiple organ failure. Unfortunately, she died despite the efforts of the intensive care. The autopsy findings were characteristic of hemophagocytic syndrome. The authors report the case to call attention to this diagnosis whenever unexpected outcomes of infections are experienced.

  8. Sheehan syndrome: a splinter of the mind.

    Science.gov (United States)

    Vaphiades, Michael S; Simmons, Debra; Archer, Robert L; Stringer, Warren

    2003-01-01

    A 40-year-old woman presented with headache and diplopia after hypotension from postpartum hemorrhage. A noncontrasted cranial magnetic resonance imaging (MRI) showed an enlarged pituitary with a rim of slight increased signal. A repeat gadolinium-enhanced cranial MRI showed peripheral enhancement of the pituitary gland surrounding an isointense central area consistent with infarction of the pituitary and the clinical diagnosis of Sheehan syndrome. The patient was treated with intravenous hydrocortisone. Immediately after treatment, her symptoms remitted and the examination normalized. One month later, a gadolinium-enhanced cranial MRI was normal. The characteristic appearance of the post-gadolinium enhanced cranial MRI helped confirm the diagnosis of Sheehan syndrome and facilitate early treatment with corticosteroids.

  9. Proteus syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Keerthi Talari

    2012-01-01

    Full Text Available Proteus syndrome (PS is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands.

  10. Dominantly inherited isolated hyperparathyroidism: a syndromic association?

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K. [Department of Radiology, Royal Alexandra Hospital for Children, Sydney (Australia)]|[Department of Radiology, New Children`s Hospital, PO Box 3515, Parramatta, NSW 2124 (Australia); Czerminska-Kowalska, A. [Department of Radiology, Children`s Memorial Health Institute, Warsaw (Poland); Kulczycka, H.; Rowinska, E.; Pronicka, E. [Department of Metabolism, Children`s Memorial Health Institute, Warsaw (Poland)

    1999-01-01

    Dominantly inherited isolated hyperparathyroidism (DIIH) is rare in childhood. It may be the first biochemical abnormality in the multiple endocrine neoplasia type I (MEN I) and type II (MEN II) syndromes. Its clinical course is usually asymptomatic or of low morbidity. Radiographic examination is most often normal. We describe six members of a family with distinctive phenotype and DIIH. Limited systemic symptoms and severe radiographic osteitis fibrosa cystica were further unusual features in this family. The diagnosis of DIIH was made only after a 9-year-old girl developed hypercalcaemic crisis after a pathological femoral fracture. Distinctive phenotype, unusual clinical course and unparalleled radiographic changes suggest a not yet described syndromic association. (orig.) With 7 figs., 3 tabs., 23 refs.

  11. Fibromyalgia and Myofascial Pain Syndrome - A Dilemma

    Directory of Open Access Journals (Sweden)

    H C Chandola

    2009-01-01

    Full Text Available Pain and fatigue associated to the musculoskeletal system are among the leading causes of patients to visit their physicians and nearly one-third of such patients suffer from fibromyalgia. Fibromyalgia syndrome (FMS is a chronic debilitating disorder characterized by widespread pain with tenderness in specific areas, leading to fatigue, headache and sleep disorder. Myofaseial Pain Syndrome (NIPS, is also a localized musculoskeletal pain producing condition whose diagnostic and management criteria differ from FMS but still considered by many only a subtype of FMS.Till date no exact cause has been held responsible for these painful conditions, therefore treatment of these disorders is always a challenge. The therapies are not precise but multimodal including pharmacological and alternative ap-proaches. This article describes the existing knowledge pertaining to these conditions in regard of causative factors diagnosis and management.

  12. Sturge-Weber Syndrome: A Review.

    Science.gov (United States)

    Higueros, E; Roe, E; Granell, E; Baselga, E

    2017-06-01

    Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma. Prognosis depends on the extent of leptomeningeal involvement and the severity of the glaucoma. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. WERNER SYNDROME: A NEW CASE REPORT

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    Faida Ajili

    2013-10-01

    Full Text Available “Werner’s syndrome” or premature aging syndrome is a rare autosomal recessive genetic disease. It is responsible of several complications related to age, including atherosclerosis and association with cancer. We report the case of a 36 year-old-patient, admitted to department of Internal Medicine of the military hospital of Tunis for suspicion of systemic sclerosis. The patient had all the major signs of Werner syndrome (bilateral cataract, sclerotic skin, “bird face”, baldness, small size, parental consanguinity and 4 minor signs (type 2 diabetes, hypogonadism, squeaky voice, and flat feet. She has also a brother with the same morphotype died at the age of 32 by a myocardial infarction. The current follow-up time is 9 years..

  14. A Case Report of Maffucci Syndrome

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    Gh. Eshghi

    2013-01-01

    Full Text Available Introduction: Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature with a combination occurrence of multiple enchodroma and vascular tumors. Case Report: Our patient was an 18 year old girl born in a non-consanguineous marriage with finger and toe bones disorders (enchondroma causing deformity of fingers and toes with multiple vascular tumors (cavernous hemangioma in the distal upper and lower limbs. Entire laboratory investigations including thyroid function tests were normal. Cardiovascular ex-amination including EKG and echocardiography were also normal. The abnormal findings on brain CT SCAN with contrast were not observed. Angiographic and histologic stud-ies confirmed the cavernous hemangioma and radiography of fingers and toes approved bone lesions (enchondroma. Conclusion: A diagnosis of Maffucci syndrome was made by the above mentioned measures.(Sci J Hamadan Univ Med Sci 2013; 19 (4:82-85

  15. A case of recurrent neuroleptic malignant syndrome

    Institute of Scientific and Technical Information of China (English)

    Zexiang OUYANG; Li CHU

    2013-01-01

    Summary:Neuroleptic malignant syndrome (NMS) is a life-threatening neurologic complication associated with the use of neuroleptic agents and characterized by a distinctive clinical syndrome of fever, rigidity, autonomic nervous system dysfunction and mental status change. This report discusses the clinical presentation, possible etiology, pathogenesis and treatment of one case of recurrent NMS in a middle-aged woman with schizophrenia. NMS occurred after combined treatment with haloperidol and aripiprazole (the first episode) and, four years later, after combined treatment with haloperidol and clozapine (the second episode). This case highlights the need to be particularly cautious in the use of antipsychotic medications in patients with a history of NMS and, whenever possible, to avoid combined treatment with multiple antipsychotic medications in these patients.

  16. Immune reconstitution inflammatory syndrome: A therapeutic paradox

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    Joan Felicita Samson

    2012-01-01

    Full Text Available A 41-year-old HIV positive woman was started on highly active antiretroviral therapy when her CD 4 count was 54/cu mm. Three weeks later, she developed erythematous to skin-colored plaques over the face. Investigations revealed a moderate eosinophilia, raised ESR, elevated 24-hour urinary calcium and hyperglobulinemia. Skin biopsy of the facial plaque revealed prominent epithelioid cell granulomas in the dermis. Reticulin stain showed reticulin fibers within the granulomas. Five months later, all the facial lesions regressed with continuation of HAART, with no specific treatment for facial plaques. Repeat CD 4 count was 104/cu mm. A diagnosis of cutaneous sarcoidosis occurring as a part of immune reconstitution inflammatory syndrome was made. Although systemic sarcoidosis has been reported, the occurrence of cutaneous sarcoidosis as part of immune reconstitution inflammatory syndrome has not been elucidated conclusively.

  17. [Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome].

    Science.gov (United States)

    Conte, M R; Bonfiglio, G; Orzan, F; Mangiardi, L; Camaschella, C; Alfarano, A; Brusca, A

    1995-12-01

    A case of hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome is reported. The most frequently associated cardiac anomalies are coarctation of the aorta and bicuspid aortic valve. Hypertrophic cardiomyopathy has never been reported in this syndrome but is frequent in Noonan syndrome. In these two conditions the phenotype may be indistinguishable but the cariotype is different: normal in Noonan and 45X in Turner syndrome. Our patient had the typical somatic features, and the cariotype was 45X in all examined cells. A familial form of hypertrophic cardiomyopathy was excluded by the normal clinical examination of other members of the family. The presence of hypertrophic cardiomyopathy also in Turner syndrome and the recent localization on the long arm of the chromosome 12 of the gene for Noonan syndrome might postulate a common pathogenesis of the two syndromes.

  18. [A psychological content of social phobia syndrome].

    Science.gov (United States)

    Sagalakova, O A; Truevtsev, D V; Stoyanova, I Ya

    2017-01-01

    To perform a psychological analysis of social phobia syndrome. The subject area of research is the structure of mental activity and behavior in social activity. The study included 32 patients with symptoms of social phobia (ICD-10 F40.1) and 29 healthy people (controls). A complex of psychological methods (questionnaires; pathopsychological experiment) was used. Early maladaptive schemes and a tendency to mental rigidity can be a premorbid basis of the syndrome. Primary violation is in organizational target component by type of distortion of goal-setting regulation. The mechanism is a reduction in the mediation of emotions and behavior (an influence of emotions on the process of activity, excess metacognitive anxiety control leading to multi-task and exhaustion of resources of voluntary activity). Fear of negative evaluation leads to the fact that a wide class of situations is interpreted as threatening. Secondary are changes in the system of goals and motives of activity (technically performing components of social behavior act as a focus of attention, along with the target, the target replaces the suprasituational meaning). Along with a strong motivation to succeed, the motive of avoiding failure is formed, which leads to a decrease in social activity. Tertiary symptoms of syndrome dynamics (ways to cope with maladaptation) are destructive forms of decompensation (substance abuse, learned helplessness and hopelessness, suicidal behavior, etc.), repeatedly reinforcing the primary and secondary disturbances.

  19. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

    LENUS (Irish Health Repository)

    Chan, Jeffrey C Y

    2008-01-01

    Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.

  20. A Solitary Plasmocytoma Case Causing Horner Syndrome

    Directory of Open Access Journals (Sweden)

    Mustafa Vayvada

    2014-08-01

    Full Text Available Solitary plasmacytoma is a rare plasma cell tumour, when seen in the chest wall, it is important to diagnose since the treatment scheme and prognosis will vary, compared to primary malignant tumours of the chest wall. A 60-year-old male presented to our clinic with left shoulder pain radiating to the left axilla. Horner%u2019s syndrome symptoms were present, in further examination a chest wall mass located in the left upper lung lobe region was detected. Histopathologic diagnosis was solitary plasmocytoma via video-assisted thoracoscopy. The primary tumor of the rib malignancy causing Horner%u2019s syndrome is discussed with reference to the relevant literature.

  1. Hyponatremia - A rare complication of Gitelman's syndrome

    Science.gov (United States)

    Ganguli, A.; Veis, J. H.

    2017-01-01

    Gitelman's syndrome (GS) is a rare autosomal recessive disorder caused by mutations in thiazide-sensitive NaCl cotransporter. We report a 49-year-old, normotensive lady with prolonged hypokalemia since her 20s who was diagnosed with GS at our renal clinic. During follow-up, she was found to have mild, asymptomatic, euvolemic hyponatremia with low serum uric acid, inappropriately high urine osmolality and sodium consistent with syndrome of inappropriate antidiuretic hormone-like presentation. Despite life-long urinary sodium losses, hyponatremia has rarely been reported in GS to be due to the primary disease process. We present relevant clinical data and hypothesize on why this disease per se may be a risk factor for dilutional hyponatremia. PMID:28182047

  2. Posterior reversible encephalopathy syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Kostić Dejan

    2015-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is characterized by the following symptoms: seizures, impaired consciousness and/or vision, vomiting, nausea, and focal neurological signs. Diagnostic imaging includes examination by magnetic resonance (MR and computed tomography (CT, where brain edema is visualized bi-laterally and symmetrically, predominantly posteriorly, parietally, and occipitally. Case report. We presented a 73-year-old patient with the years-long medical history of hipertension and renal insufficiency, who developed PRES with the symptomatology of the rear cranium. CT and MR verified changes in the white matter involving all lobes on both sides of the brain. After a two-week treatment (antihypertensive, hypolipemic and rehydration therapy clinical improvement with no complications occurred, with complete resolution of changes in the white matter observed on CT and MR. Conclusion. PRES is a reversible syndrome in which the symptoms withdraw after several days to several weeks if early diagnosis is made and appropriate treatment started without delay.

  3. The Hyperimmunoglobulinemia E Syndromes: A Literature Review

    Directory of Open Access Journals (Sweden)

    Slavica Hristomanova

    2013-12-01

    Full Text Available The hyper-immunoglobulin E (IgE syndromes (HIES are primary immunodeficiencies characterized by the recurrent staphylococcal abscesses, recurrent pneumonia and highly elevated serum IgE levels. There are two forms of HIES: a dominant form (AD-HIES and a recessive form (AR-HIES. AD form of HIES is caused by mutations in STAT3 and the AR form is caused by mutations in DOCK8 and TYK2. These syndromes have different clinical presentations and outcomes. AD-HIES is a multisystem disorder that includes abnormalities of the skin, lungs, musculo-skeletal system and dental system. In contrast, these symptoms in patients with AR-HIES are missing. AR-HIES patients have severe viral infections and may develop neurological complications. This review article discusses the clinical presentation and laboratory findings in both forms of HIES, as well as the establishment of diagnose, inheritance, molecular genetics and immunological abnormalities of HIES.

  4. Landau-Kleffner syndrome : a case report.

    Directory of Open Access Journals (Sweden)

    Raybarman C

    2002-04-01

    Full Text Available A healthy 5 year old boy developed aphasia, attention disorder and hyperkinesia preceded by transient formed visual hallucinations and emotional outburst, immediately after a stressful event of forced separation from his father. EEG showed generalized epileptiform activity. He was diagnosed as Landau-Kleffner syndrome (LKS. CT and MRI of the brain were normal. SPECT showed left mesial temporal hypoperfusion. He improved on antiepileptics and ACTH.

  5. PFAPA syndrome is not a sporadic disease

    OpenAIRE

    Cochard, Marie; Clet, Johanna; Le, Lan; Pillet, Pascal; Onrubia, Xavier; Guéron, Thierry; Faouzi, Mohammed; Hofer, Michaël

    2017-01-01

    Objectives. To determine whether PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) patients have a positive family history (FH) for recurrent fever syndromes. Method. For all patients with PFAPA seen in two paediatric rheumatology centres (Romandy, Switzerland and Bordeaux, France), parents were interviewed to record the FH for periodic fever. As controls, we interviewed a group of children without history of recurrent fever. Results. We recruited 84 patients with...

  6. Locked - in syndrome: a case report

    OpenAIRE

    Luján-Ramos Vanesa; Monterrosa-Salazar Erika; Polo-Verbel Luis

    2011-01-01

    The Locked-In Syndrome is an infrequent disease in our community. It is a destructiveprocess usually due to obstruction of the basilar artery. There is interruption of thedescending corticobulbar and corticospinal tracts, leaving uninvolved the fibers thatcontrol the blinking and the vertical ocular movements (allowing patient to communicate)and the ascending reticular matter. Case report: a 63 years old woman, with ahistory of hypertension and stroke, who suddenly develop dysartria, hemipare...

  7. Female urethral syndrome. A female prostatitis?

    OpenAIRE

    1996-01-01

    The cause of the female urethral syndrome has previously been obscure, as it has been associated by definition with a lack of objective findings but a plethora of subjective complaints of retropubic pressure, dyspareunia, urinary frequency, and dysuria. There is now strong evidence that the microscopic paraurethral glands connected to the distal third of the urethra in the prevaginal space are homologous to the prostate. They stain histologically for prostate-specific antigen and, like the pr...

  8. Sick sinus syndrome: a family study.

    Science.gov (United States)

    Rogińska, Natalia; Bieganowska, Katarzyna

    2014-02-01

    A case of related individuals affected by sick sinus syndrome is presented in this study. The clinical and electrocardiographic signs of sinus node dysfunction and the most common causes of this disease are presented. Subsequently, the article includes descriptions of sinus node disease in three related children as well as details of the disease in their relatives. A literature review of the genetics of familial sinus node dysfunction concludes the study.

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

    Science.gov (United States)

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

    2016-06-01

    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 hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver-Bucy syndrome.

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

    Science.gov (United States)

    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 hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver–Bucy syndrome. PMID:27446793

  11. Homicide and Klinefelter syndrome: a complex interaction

    Directory of Open Access Journals (Sweden)

    Stéphane Richard-Devantoy

    2014-05-01

    Full Text Available Introduction: Several studies have shown an association between homicide and sexual chromosomal abnormalities, but data are still lacking regarding Klinefelter syndrome. Methods: We retrospectively reviewed two cases of homicide perpetrators who were both diagnosed with Klinefelter syndrome on the basis of a karyotype analysis. A neurocognitive assessment was also performed (MMSE, Frontal Assessment Battery, brain CT, and electroencephalogram. Results: Numerous intermediate risk factors of homicide were shared by our two cases, including dispositional (male gender, young age, low socioeconomic status, historical (prior arrest record and past conviction for any offense, contextual (unemployment, and clinical (alcohol abuse. Conclusion: It is important that clinicians go beyond obvious risk factors, such as chromosomal abnormalities, to pinpoint other meaningful risk factors and potentially facilitate preventive approaches.

  12. Kartagener Syndrome: A Rare Genetic Disorder

    Directory of Open Access Journals (Sweden)

    Kunjan Shakya

    2009-01-01

    Full Text Available Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure and/or function resulting in multisystem diseases of various severity. Clinical manifestations include lifelong, chronic upper and lower respiratory tract diseases secondary to ineffective mucociliary clearance. Early diagnosis and management of chest infections can prevent irreversible damage to lungs and prevent potential lifelong complications. This case report is on a patient who presented with long standing history of sinusitis, bronchiectasis and on examination situs inversus with dextrocardia. Key Words:bronchiectasis, dextrocardia, kartagener syndrome, primary ciliary dyskinesia, situs inversus

  13. Paraneoplastic neurologic syndrome: A practical approach

    Directory of Open Access Journals (Sweden)

    Sudheeran Kannoth

    2012-01-01

    Full Text Available Paraneoplastic neurological syndromes (PNS are rare disorders associated with cancer, not caused by direct invasion, metastasis or consequences of treatment. They are usually autoimmune in nature. Often, PNS precedes the manifestations of cancer. Onconeural antibodies are important in the diagnosis and management of these disorders. These antibodies are specific for the malignancy rather than for a particular neurological syndrome. Often, there are different antibodies associated with the same syndrome. Multiple antibodies are also known to coexist in a given patient with malignancy. While investigating a patient for suspected PNS, the entire gamut of onconeural antibodies should be investigated so as not to miss the diagnosis. In 30-40% of the cases, PNS can occur without antibodies. Investigations for identifying the underlying cancer can be directed by the antibody panel. If conventional screening for cancer is negative, a positron emission scanning/computed tomography scan can be useful. Patients need follow-up surveillance for cancer if not detected in the first instance. Cancer detection and treatment, immunotherapy and supportive care are important components of treatment of PNS. Immunotherapy is very effective in PNS associated with cell membrane-associated antibodies like voltage-gated potassium channel complex, NMDA receptor antibodies and voltage-gated calcium channel antibodies. Immunotherapy includes steroids, IVIgG, plasmaphereis, cytotoxic medications and rituximab. Supportive therapy includes symptomatic treatment with antiepileptic and analgesic medications, physiotherapy, speech therapy and occupational therapy. PNS can mimic any neurologic syndrome. A high index of clinical suspicion is important for early diagnosis and prompt management and better outcome.

  14. Antiphospholipid Syndrome--Not a Noninflammatory Disease.

    Science.gov (United States)

    de Groot, Philip G; Urbanus, Rolf T

    2015-09-01

    The autoimmune disease antiphospholipid syndrome (APS) is characterized by thrombosis or pregnancy morbidity in patients with persistent antiphospholipid antibodies (aPLs). Although inflammation is not a key feature of the clinical presentation of the syndrome, there are indications that the inflammatory response plays an important role in APS. The major antigen of aPLs, the plasma protein β2-glycoprotein I, is involved in clearance of microparticles and in the innate immune response. In light of these physiological functions, the formation of antibodies against the protein is easily understood, as antibodies might augment the clearance reaction. In addition, inflammatory mediators are thought to play a role in the activation of leukocytes and the induction of endothelial dysfunction in APS. Moreover, evidence for a role of complement activation in the pathogenesis of the syndrome is accumulating. This review will provide an overview of current knowledge on the physiological function of β2-glycoprotein I, the formation of autoantibodies against β2-glycoprotein I and will explore the contribution of inflammation to the clinical manifestations of APS.

  15. Understanding sarcopenia as a geriatric syndrome.

    Science.gov (United States)

    Cruz-Jentoft, Alfonso J; Landi, Francesco; Topinková, Eva; Michel, Jean-Pierre

    2010-01-01

    Highly prevalent in the population older than 65 years and leading to poor outcomes (functional decline and its related consequences), sarcopenia does not benefit yet either of a clear understanding of its pathophysiology or of precise clinical or biological markers allowing its identification. The new scientific definition of 'geriatric syndromes' challenges the authors to review the current sarcopenia literature, allowing them to affirm that sarcopenia cannot be considered as an age-related disease but as a true 'geriatric syndrome'. More than 50% of the population older than 80 years suffer from this medical condition, which is linked to multiple causations: the ageing process itself, genetic susceptibility, certain life habits, changes in living conditions and a number of chronic diseases. Moreover, sarcopenia favours poor outcomes such as mobility disorders, disability, poor quality of life and death. Considering sarcopenia as a geriatric syndrome allows us to request its recognition and assess its multiple risk factors, to implement a clinical and public health approach to the management of sarcopenic patients and population at risk and to disentangle the links among sarcopenia, frailty, disability and mortality.

  16. Lethal midline granuloma syndrome: a diagnostic dilemma

    Energy Technology Data Exchange (ETDEWEB)

    Ribeiro, Bruno Niemeyer de Freitas; Bahia, Paulo Roberto Valle [Radiology, Hospital Universitario Clementino Fraga Filho - Universidade Federal do Rio de Janeiro (HUCFF-UFRJ), Rio de Janeiro, RJ (Brazil); Oliveira, Ana Luiza Vianna Sobral de Magalhaes [Resident of Medical Practice, Hospital Federal da Lagoa, Rio de Janeiro, RJ (Brazil); Marchon Junior, Joao Luiz [Unit of Computed Tomography, Hospital Federal da Lagoa, Rio de Janeiro, RJ (Brazil)

    2012-11-15

    The rare lethal midline granuloma syndrome is difficult to diagnose because of the wide array of related diseases and lack of knowledge by the majority of physicians. In the present report, the authors describe the case of a patient with this disease, caused by squamous cell carcinoma, drawing attention to differential diagnoses and to clinical and radiological findings that may be useful to define the diagnosis. (author)

  17. A Hypereosinophilic Syndrome Associated with HIV Infection

    Science.gov (United States)

    1992-01-01

    mucosa of patients with coeliac disease . J Exp Med 1992; 175: 293 29. Enockihara H, Kajitani H, Nagashima S, et al. Interleukin-5 activity in sera...exhibited clinical and histopathologic similarities to the idiopathic hypereominophilic syndrome as well as acute graft -versus -host disease . A serum...MD **** Paul M Benson LTC MC USA * and the Military Medical Consortium for Applied Retroviral Research * Department of Bacterial Diseases Walter Reed

  18. Ambras syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    A Ishita

    2016-01-01

    Full Text Available Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS, which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.

  19. Terson syndrome and leukemia: a case report

    Directory of Open Access Journals (Sweden)

    Lorenzi U

    2014-04-01

    Full Text Available Umberto Lorenzi, Elisa Buschini, Antonio Fea, Federica Machetta, Federico Maria GrignoloOphthalmic Section, Department of Clinical Pathophysiology, University of Turin, Turin, Italy Abstarct: Terson syndrome is defined as intraocular hemorrhage associated with intracranial bleeding. This syndrome can occur in the event of intracranial hemorrhage or elevated intracranial pressure. To our knowledge, it has never been associated with chronic myeloid leukemia. A 45-year-old woman suffering from chronic myeloid leukemia was referred to our clinic with Terson syndrome after intracranial bleeding. We followed this patient for a year, performing visual acuity assessment, fundus examination, color retinography, and A-scan and B-scan ultrasonography. At presentation, her best-corrected visual acuity on the right was 20/63 and on the left was 20/320. In the right eye, retinoscopy showed blurring of the optic margins surrounded by retinal and preretinal hemorrhages, preretinal fibrosis of the optic disc along the vascular arcades, and perivascular retinal infiltrates. In the left eye, the optic disc was surrounded by retinal and preretinal hemorrhages, and massive fibrosis with hard exudates and severe preretinal hemorrhage were observed at the posterior pole. Roth spots and many circular hemorrhages were noted at the periphery of the retina. A-scan and B-scan ultrasonography did not show intraocular leukemic infiltration. The clinical picture remained stable over the following 12 months. In this patient, we observed the ophthalmoscopic features of chronic myeloid leukemia, but also coexistence of features typical of Terson syndrome. To our knowledge, no similar cases have been reported previously.Keywords: retinal disease, chronic myeloid leukemia, eye hemorrhage, intracranial hemorrhage

  20. Prader Willi Syndrome: A Family's Experience

    Directory of Open Access Journals (Sweden)

    Emma Walker

    2006-01-01

    Full Text Available Genetic research has offered, and continues to offer, a medical explanation of chromosomal disorders such as Down Syndrome and Asberger Syndrome and more recently the rare chromosomal disorder Prader Willi Syndrome. This research gives a pathogenic explanation of disorders which includes historical background, genetic defects and clinical features. This study set out to offer an insight into the effects of PWS on the child and his/her family. It also aimed to highlight what support systems are in place in the Co. Louth area of Ireland for individuals with PWS. Unfortunately, PWS is not curable at this time. Between 1995-2003 there were 39 diagnosed cases of PWS in Ireland, an average of 4.3 per year. On average there are four infants or children diagnosed in Ireland with PWS per year (Turner, 2004, National Centre for Medical Genetics. This study is an exploratory and descriptive case study. This case study drew on multiple sources of evidence to construct a valid and unique illustration of PWS. The primary source of data was derived from in-depth interviews with the parents of a 3-year-old girl who has PWS. She was diagnosed during the third week of life. The evidence of this study suggests that non-specialist medical staff are not generally familiar with PWS. Training in relation to diagnostic criteria for chromosomal disorders would be extremely beneficial to them and to familes that are affected by the syndrome. This study highlights the need for parents to be their own child's advocate in obtaining desired support services for their area. Support services in the North East region have been greatly increased due to the setting up of the North Eastern Health Board (now known as Health Service Executive, North East Region Early Intervention Services (EIS in 2000.

  1. COMPUTER VISION SYNDROME: A SHORT REVIEW.

    OpenAIRE

    Sameena; Mohd Inayatullah

    2012-01-01

    Computers are probably one of the biggest scientific inventions of the modern era, and since then they have become an integral part of our life. The increased usage of computers have lead to variety of ocular symptoms which includ es eye strain, tired eyes, irritation, redness, blurred vision, and diplopia, collectively referred to as Computer Vision Syndrome (CVS). CVS may have a significant impact not only on visual com fort but also occupational productivit...

  2. Toxicology of a bovine paraplegic syndrome.

    Science.gov (United States)

    Sevcik, C; Brito, J C; D'Suze, G; Domínguez-Bello, M G; Lovera, M; Mijares, A J; Bónoli, S

    1993-12-01

    A clinical entity named 'bovine paraplegic syndrome' ('síndrome parapléjico de los bovinos') has spread alarmingly in the cattle-growing areas of the central and eastern plains of Venezuela. It is estimated that four million cattle are bred in the area where the disease occurs. The mortality ranges from 5 to 25% of the animals at risk, mostly pregnant or lactating cows. The principal characteristic of the bovine paraplegic syndrome is ventral or sternal decubitus, in animals that make vain efforts to stand when stimulated. The diagnosis is established when all other possible causes (e.g. paralytic rabies, botulism and blood parasites such as Anaplasma marginal, Babesia bovis, B. bigemina, and Trypanosoma vivax) have been ruled out clinically and by laboratory tests. Death always occurs, usually after a few days, and there is no known treatment. In this work, we describe results that show the presence of a toxin in the cattle suffering from, or liable to suffer from the syndrome. The toxin is produced by ruminal bacteria. In squid giant axons under voltage clamp conditions, the toxin blocks the sodium current. We detected the toxin analytically by absorbance measurements at 340 nm after reacting with picrylsulfonic acid. We obtained a good separation of the toxin with isocratic high pressure liquid chromatography, using 40% methanol in water on phenylborasil columns.

  3. Kartagener’s syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Taušan Đorđe

    2016-01-01

    Full Text Available Introduction. Kartagener’s syndrome is a recessive autosomal disease which is mainly seen to affect ciliary movement. The symptoms of the syndrome are the consequence of the defective motility of the cilia found in the respiratory tract and that results with recurrent lung infections caused by mucus stasis in the bronchi. Case report. A 37-year-old married, male father of one child, presented with a history of productive cough, wheezing, dispnea, headache, temporary fever. In his 9th year of age, 1986, situs inversus, sinusitis and pectus excavatum were diagnosed. In 1994 he was operated for correction of pectus excavatum. Bronchial asthma was diagnosed in 2008 when he was 31. In the last 2 years he had episodes of breathlessness, wheezing, cough, expectoration, headache, fever and fast declining lung function. The patient was treated with combination of inhaled bronchodilatators (inhaled corticosteroids + long-acting β-2 agonist, and occasional administration of antibiotics, oral prednisolone, mucolytics in episodes of exacerbations of disease over a period of 7−14 days. Conclusion. Treatment for patients with this syndrome has not been established yet, but it is important to control chronic lung infections and prevent declining of lung function.

  4. The Savant Syndrome Registry: A Preliminary Report.

    Science.gov (United States)

    Treffert, Darold A; Rebedew, David L

    2015-08-01

    A registry has been established to document certain characteristics on a sizeable worldwide sample of individuals with savant syndrome, a rare but remarkable condition in which persons with developmental disabilities, brain injury, or brain disease have some spectacular "islands" of skill or ability that stand in jarring, marked contrast to overall handicap. Of the 319 savants included in the registry, 90% are congenital savants, while 10% are acquired savants. The registry includes individuals from 33 countries, with 70% from the United States or Canada. Sex distribution was 79% male vs. 21% female (4:1). This report summarizes the findings in the congenital savant syndrome category of the registry. Among the individuals with congenital savant syndrome, the most common underlying disability was Autistic Spectrum Disorder (75%); various other central nervous system (CNS) disorders were present in the other 25%. Fifty-five percent possessed a single special skill, while 45% had multiple skills. Music was the most frequent principal skill followed by art, memory, mathematics, calendar calculating, language, visual-spatial/mechanical, athletic, computer, extrasensory perception, and other skills.

  5. Meckel Gruber syndrome, A case report.

    Science.gov (United States)

    Aslan, Kiper; Külahçı Aslan, Elif; Orhan, Adnan; Atalay, Mehmet Aral

    2015-01-01

    Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies.

  6. TREACHER COLLINS SYNDROME: A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Phani Kumar

    2014-02-01

    Full Text Available PURPOSE: To present a case of Treacher Collins syndrome. METHODS: A 7 days-old girl child with eye and facial disfiguration since birth was examined and managed conservatively. RESULTS: The presenting symptom of the patient was eye and facial disfiguration .she had sunken appearance of the face, with abnormally wide fish like mouth (macrostomia, depressed nasal bridge, parrot beak nose, malar hypoplasia with an anti mongoloid slant with associated micrognathia, glossoptosis, and high arched palate with cleft palate. On ocular examination, there was notching of lower eyelid, downward slanting eyes, complete absence of lower eyelid lashes. The patient was managed conservatively with nutritional support through nasogastric tube feeding, parenteral antibiotics and eye drops. During discharge, necessary counseling was done with an advice to have a regular follow up for further treatment of hearing loss and reconstructive surgery of facial anomalies. CONCLUSION: We are reporting this case of Treacher Collins syndrome baby, with no family history, presenting with the typical orofacial implications of this syndrome.

  7. A Case Report of Munchausen Syndrome by Proxy Presenting as Acquired Symptomatic West Syndrome

    Directory of Open Access Journals (Sweden)

    Shridhar Jadhav

    2016-07-01

    Full Text Available Munchausen Syndrome By Proxy (MSBP is an extremely complicated diagnosis because of the difficulty in finding the incriminating evidence of its existence and because of the ethical issue it raises for caregivers. Its implications from a medical, psychological and legal point of view raise difficult questions for any professional confronted to it. We present a case of 8 month female infant who was diagnosed to have Hyperinsulinism causing hypoglycemic brain injury and later developing intractable convulsion with head drops, where EEG was suggestive of West Syndrome, was actually a case of Munchausen syndrome by proxy to start with.

  8. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

  9. A Case Report of Fahr Syndrome

    Directory of Open Access Journals (Sweden)

    M.D. Mohebi

    2013-07-01

    Full Text Available Introduction: Fahr syndrome is a rare phenomenon of idiopathic calcification of the basal gan-glia in the brain that is accompanied with psychiatric symptoms such as delusions, hallucina-tions, depression and neurological motor and cognitive deficits. This syndrome is acciden-tally diagnosed on brain CT scans of patients with mental disorders. Case Report: Our patient was a 35 year old man with persecutory delusions, visual and auditory hallucinations admitted to Baharan hospital in Zahedan in 2012. On mental status examination, he showed persecutory delusions, psychomotor retardation, lack of eye and verbal contact, slow affection , depression, sleep and appetite disturbance and sexual dysfunction. IQ test revealed subnormal and MMPI proved psychopathology with schizoaf-fective symptoms. In paraclinical studies, symmetric and extensive calcification of brain structures was reported, Despite all laboratory indices such as serum calcium and phosphorus were within normal range. Conclusion: According to his history, mental state examination and clinical evaluation the diagnosis of Fahr's syndrome was made. The patient was treated with olanzapine 1mg and citalopram 20mg daily. After three weeks of treatment, the patient’s communication, mood and cognitive status fairly improved ,his hallucinations resolved , and his delusions decreased, (Sci J Hamadan Univ Med Sci 2013; 20 (2:172-176

  10. Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes.

    Science.gov (United States)

    Singer, Kanakadurga; Heiniger, Nicholas; Thomas, Inas; Worden, Francis P; Menon, Ram K; Chen, Ming

    2014-09-01

    We describe a 13-year-old male with multiple endocrine neoplasia syndrome type 2B with medullary thyroid carcinoma who was diagnosed with ectopic adrenocorticotropin-dependent Cushing syndrome. This report highlights the importance of monitoring for paraneoplastic syndrome in MEN and clues to the diagnosis of this complication provided by growth patterns.

  11. A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

    Science.gov (United States)

    Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

    2009-01-01

    We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

  12. [Ocular ischemic syndrome--a case report].

    Science.gov (United States)

    Zemba, M; Avram, Corina Ioana; Ochinciuc, Uliana; Stamate, Alina Cristina; Camburu, Raluca Lăcrămioara

    2013-01-01

    Ocular ischemic syndrome, also known as hypoperfusion/ hypotensive retinopathy or as ischemic oculopathy is a rare ocular disease determined by chronic arterial hypoperfusion through central retinal artery, posterior and anterior ciliary arteries. It is bilateral in 20% of the cases. Most often it appears due to severe occlusion of the carotid arteries (ICA, MCA>ECA), described in 1963 by Kearns and Hollenhorst. Occasionally it can be determined by the obstruction of ophtalmic artery or some arterities (Takayasu, giant cell arteritis). The risk factors are: age between 50-80 years, males (M:F = 2:1), arterial hypertension, diabetes, coronary diseases (5% of the cases develop ocular ischemic syndrome), vascular stroke, hemodialysis. The case we present is of an 63 years old man known with primary arterial hypertension, hypercholesterolemia, diabetes type 2 non insulin dependent and diagnosticated with ischemic cerebral stroke and bilateral obstruction of internal carotid arteries in march 2010, who is presenting for visual impairment in both eyes. The imaging investigations show important carotid occlusion and at the ophthalmologic evaluation there are ocular hypertension and rubeosis iridis at the right eye, optic atrophy at both eyes (complete in the right eye and partial in the left eye), with superior altitudinal visual field defect in left eye. The following diagnosis was established: Chronic ocular ischemic syndrome in both eyes with Neovascular glaucoma at the right eye, Anterior ischemic optic neuropathy at the left eye and laser panphotocoagulation at the right eye was started.

  13. A Case of Congenital Syndromic Hydrocephalus: A Subtype of ‘Game-Friedman-Paradice Syndrome'

    Directory of Open Access Journals (Sweden)

    Tapan Kumar Jana

    2013-01-01

    Full Text Available Human hydrocephalus is a disorder of abnormality in CSF flow or resorption, which has been classified in pertinent literature as congenital and acquired. Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as a syndrome. This report describes a case with congenital foetal hydrocephalus, hypoplastic lungs with super-numery lobations and large left lobe of liver compared to right. Thus far, a review of the literature indicates that this case can be postulated as a subtype of Game-Friedman-Paradice syndrome.

  14. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  15. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  16. Aggressive cervical neuroblastoma with a rare paraneoplastic syndrome: A therapeutic dilemma

    Science.gov (United States)

    Qureshi, Sajid S.; Bhagat, Monica; Anam, Jay; Vora, Tushar

    2016-01-01

    Neuroblastoma is infrequently associated with paraneoplastic syndromes. Amongst the few, opsomyoclonus (Kinsbourne syndrome) is the most common neurological paraneoplastic syndrome and diarrhea secondary to increased secretion of vasoactive intestinal peptide (Kerner-Morrison syndrome), hormonal paraneoplastic syndrome. Hypothalamic dysfunction (HD) is a rare disorder and its manifestation as a paraneoplastic syndrome of neuroblastoma is uncommonly reported. We present an interesting case of an unrelenting cervical neuroblastoma associated with HD, which posed a therapeutic challenge. PMID:27695211

  17. Ehlers–Danlos Syndrome in an Adult Woman: A Hidden Syndrome

    Directory of Open Access Journals (Sweden)

    Diana Spinelli

    2014-05-01

    Full Text Available Ehlers–Danlos syndrome is a rare disease and a diagnostic challenge. This case report serves to remind the clinician that it is important to identify all affected patients in order to prevent complications.

  18. Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model

    Directory of Open Access Journals (Sweden)

    da Nóbrega Raphael

    2009-04-01

    Full Text Available Abstract Hutchinson-Gilford progeria syndrome (HGPS is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. The aim of this work was to compile a comprehensive literature review of the clinical features and genetic mutations and mechanisms of this syndrome as a contribution to health care workers. This review shows the necessity of a more detailed clinical identification of Hutchinson-Gilford progeria syndrome and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome.

  19. Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.

    Science.gov (United States)

    Braddock, Stephen R; South, Sarah T; Schiffman, Joshua D; Longhurst, Maria; Rowe, Leslie R; Carey, John C

    2016-10-01

    In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation syndrome. The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay. Since that time, there have been multiple other reported patients with a similar phenotype. In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22. The similarity of the reported cases with deletions involving 21q22 with the clinical presentation of the two patients with Braddock-Carey syndrome resulted in a reinvestigation of the genetic etiology of these two patients 20 years after the original study. This investigation provides evidence that the etiology of this and other "Fanconi-like" disorders represent a newly recognized contiguous gene deletion syndrome involving 21q22 and specifically, the RUNX1 gene. © 2016 Wiley Periodicals, Inc.

  20. Sweet syndrome associated with myelodysplastic syndrome: report of a case. Review of the literature.

    Science.gov (United States)

    Reina, Delia; Cerdà, Dacia; Roig, Daniel; Fíguls, Ramon; Villegas, M Luz; Corominas, Hèctor

    2013-01-01

    Sweet's syndrome or acute neutrophilic febrile dermatosis is a systemic disease of unknown etiology characterized by the appearance of skin lesions produced by a neutrophilic dermal infiltrate, fever and peripheral leukocytosis. It may be associated with hematologic diseases, including leukemia, with immune diseases as rheumatoid arthritis, or can occur in isolation. The myelodysplasias are hematological disorders characterized by one or more cytopenias secondary to bone marrow dysfunction. We present the case of a patient with Sweet's syndrome associated with myelodysplastic syndrome and treated with glucocorticoids who did not present a good clinical outcome. We discuss the different treatment of these diseases because in most cases glucocorticoids, which are the treatment of choice in Sweet's syndrome, may be insufficient.

  1. Speckled lentiginous nevus syndrome with median nerve paresis: A rare syndrome with a new association

    Directory of Open Access Journals (Sweden)

    Vibhu Mendiratta

    2013-01-01

    Full Text Available Speckled lentiginous nevus (SLN represents a mosaic phenotype which consists of café au lait macule superimposed by melanocytic nevi. Recently, SLN syndrome has been characterized where ipsilateral neurological abnormalities have been reported in association with SLN with papular type of melanocytic nevi only. This case describes the presence of ipsilateral thenar muscle atrophy with median nerve paresis in nevus spilus which had melanocytic nevi of the macular type alone, thus delineating a new association in SLN syndrome, hitherto unreported.

  2. Cardiac valve degeneration in a patient with Sneddon syndrome.

    Science.gov (United States)

    Diosteanu, Raluca; Schuler, Gerhard; Müller, Ulrike

    2015-06-01

    Sneddon syndrome--a rare cause of aortic and mitral valve stenosis. Sneddon syndrome is a rare disorder that leads to repeated occurrence of cerebrovascular disease and skin manifestation, defined as livedo racemosa generalisata. The authors report the occurrence of multiple valve degenerations in a 49-year-old patient with Sneddon syndrome, which seemed to have been asymptomatic through a long period of time and was diagnosed as it needed a complex surgical intervention.

  3. Isolated Horner syndrome and syringomyelia in a child.

    Science.gov (United States)

    Moreno, Tomas A; El-Dairi, Mays A; Cabrera, Michelle T

    2012-12-01

    Horner syndrome can be caused by a variety of etiologies that interrupt the sympathetic innervation of the eye, including but not limited to central mass lesions. Recently, it has been debated whether neuroimaging has a place in the diagnostic algorithm of isolated pediatric Horner syndrome given the low incidence of neuroblastoma. We present a case of a 19-month-old girl with an isolated Horner syndrome, likely caused by a lower cervical syrinx, that was diagnosed by magnetic resonance imaging.

  4. Radiologic features of preteus syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-04-15

    Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations with overgrowth of various tissues. The author reports the case of a Proteus syndrome in a 14-year-old girl who had the unique features of this syndrome including megaspondylodysplasia with resultant scoliosis, leg discrepancy, macrodactyly, clinodactyly, hyperostosis in external auditory meatus, asymmetric megalencephaly, splenomegaly, cystic lung changes, asymmetric soft tissue fat infiltrations and a long, asymmetric face, with descriptions of the radiological features.

  5. A case of overlapping of Sturge Weber syndrome-Klippel Trenaunay syndrome and ophthalmological findings

    Directory of Open Access Journals (Sweden)

    Ersin Aydın

    2016-12-01

    Full Text Available Sturge-Weber syndrome (SWS is a neurocutaneous syndrome characterized by facial port wine stains, vascular lesions in the ipsilateral brain and meninges, and glaucoma. Klippel-Trenaunay syndrome (KTS is a rare congenital malformation associated with cutaneous vascular malformation, bony or soft tissue hypertrophy and venous varicosities in the affected limb. Although some cases have been reported in the literature, an overlap between these two phakomatoses is extremely rare and they have systemic and ocular affects. Here, we present a case showing the properties of both SWS and KTS and having interesting ophthalmological findings. This case is presented to emphasize that eye related complications might also be seen in these syndromes.

  6. Case study: Gluteal compartment syndrome as a cause of lumbosacral radiculoplexopathy and complex regional pain syndrome.

    Science.gov (United States)

    Lederman, Andrew; Turk, David; Howard, Antonio; Reddy, Srinivas; Stern, Michelle

    2016-01-01

    We present the case of a 24 yr old male who was diagnosed with gluteal compartment syndrome and was subsequently found to have developed lumbosacral radiculoplexopathy and complex regional pain syndrome. The patient's gluteal compartment syndrome was diagnosed within 24 h of presentation to the emergency room, and he underwent emergent compartment release. While recovering postoperatively, persistent weakness was noted in the right lower limb. Results of electrodiagnostic testing were consistent with a lumbosacral radiculoplexopathy. After admission to inpatient rehabilitation, the patient complained of pain, burning sensation, and numbness in the distal right lower limb. Based on clinical findings, he was diagnosed with complex regional pain syndrome type II, or causalgia, and was referred for a lumbar sympathetic block under fluoroscopic guidance. Sympathetic block resulted in relief of the patient's symptoms. He was discharged home with good pain control on oral medications.

  7. WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION.

    Science.gov (United States)

    PARTINGTON, M W

    1964-04-25

    Waardenburg's syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness. The syndrome is inherited as a dominant, but affected individuals do not necessarily have all of the characteristics cited.Five hundred and fourteen pupils at a school for the deaf were screened for features of this syndrome. Three cases were discovered. Eleven other deaf children were found to have heterochromia iridum and two more had white forelocks. The interocular dimensions of the remaining children were recorded as standards by which to judge the presence of dystopia canthorum. The results of chromosomal analysis in two cases with Waardenburg's syndrome were normal.The findings provide further evidence that Waardenburg's syndrome is a distinct entity and call in question Mackenzie's concept of a comprehensive "first arch syndrome".

  8. Hunter′s syndrome: A case report

    Directory of Open Access Journals (Sweden)

    N S Savitha

    2015-01-01

    Full Text Available Hunter′s syndrome or mucopolysaccharidosis (MPS type II is an X-linked recessive mucopolysaccharide disorder caused by a defect in the metabolism of glycosaminoglycans (GAGs characterized by involvement of nervous, cardiovascular, respiratory, and mucoskeletal systems along with numerous oral manifestations. This is a case report of a 13-year-old boy referred to the Department of Pediatric Dentistry with a chief complaint of irregularly placed teeth from a general physician. Here we highlight the pivotal role of pediatric dentists in diagnosis and treatment planning for patients diagnosed with such systemic conditions and the provision of advanced dental care in the management of the same.

  9. Compartment syndrome after hypocalcemic tetany: a case report.

    Science.gov (United States)

    Luzzi, Richard; Burghardt, Rolf D; Herzenberg, John E; Zuckerberg, Aaron L

    2008-09-01

    Compartment syndrome results from pathologically elevated muscle tissue pressure within a closed space. It is almost always related to either trauma or reperfusion after loss of arterial inflow from occlusion of a major blood vessel. We present an unusual case of nontraumatic and nonvascular compartment syndrome after hypocalcemia-induced sustained tetany in a 2-year-10-month-old male child after a neuroblastoma tumor resection. This particular cause of compartment syndrome has been described only once before in an adult patient.

  10. Anesthetic management in a case of antiphospholipid antibody syndrome.

    Science.gov (United States)

    Mikkiliineni, Venkata Rama Rao; Panidapu, Nagarjuna; Parasa, Mrunalini; Shaik, Mastan Saheb

    2015-01-01

    Antiphospholipid antibody (APLA) syndrome is one of the most common thrombocytophilias but, unfortunately, goes unrecognized most often. It is an auto-immune disorder in which thrombotic events and a recurrent fetal loss occur in the presence of antibodies to phospholipids. It is the most common acquired hyper-coagulable state. There is a limited literature on peroperative management of patients with this syndrome. We report a case of APLA syndrome in a parturient due to its rarity and complexity.

  11. A tale of two syndromes: Lyme disease preceding postural orthostatic tachycardia syndrome.

    Science.gov (United States)

    Noyes, Adam M; Kluger, Jeffrey

    2015-01-01

    The pathogenesis of postural orthostatic tachycardia syndrome (POTS) is poorly understood. However, it has been suggested that altered immune activity or denervation of the autonomic system following illness may be an important trigger. Patients infected with Lyme disease have a small incidence of post-Lyme disease syndrome that share similar characteristics to POTS. We report a short series of two women who present with persistent symptoms of orthostatic intolerance consistent with POTS after treated Lyme disease. © 2014 Wiley Periodicals, Inc.

  12. [Atypic hemolytic uremic syndrome taken for Goodpasture's syndrome: A case report].

    Science.gov (United States)

    Bourgault, Marie; Sarret, Damien; Isnard, Pierre; Rabant, Marion; Labaye, Jacques

    2015-12-01

    We report the case of a patient suffering from atypical hemolytic uremic syndrome with inaugural intra-alveolar hemorrhage. Clinical features and detection of circulating anti-glomerular basal membrane antibodies first raise the possibility of a Goodpasture syndrome. Renal biopsy allows to correct the diagnosis. Partial remission is obtained thanks to specific care and eculizumab infusions. Copyright © 2015 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  13. [Increase of serum procalcitonin levels during a neuroleptic malignant syndrome].

    Science.gov (United States)

    Cabot, B; Pautas, E; Gatey, M; Perivier, S; Mahieux, F; Pinquier, C; Hausfater, P

    2009-01-01

    When fever occurs in a patient treated with a neuroleptic, the diagnosis of a neuroleptic malignant syndrome is difficult to differentiate to that of an infectious event. Among inflammation biomarkers of inflammation, serum procalcitonin levels increase both quickly and specifically during a bacterial infection. We report the first case of a neuroleptic malignant syndrome associated with a significant increase of serum procalcitonin levels, without concomitant septic syndrome. The neuroleptic malignant syndrome might be a non-infectious clinical situation associated with an increased serum procalcitonin concentration.

  14. [A novel neurocutaneous syndrome: Legius syndrome. A case report].

    Science.gov (United States)

    Cemeli-Cano, Mercedes; Peña-Segura, José Luis; Fernando-Martínez, Ruth; Izquierdo-Álvarez, Silvia; Monge-Galindo, Lorena; López-Pisón, Javier

    2014-09-01

    Introduccion. El sindrome de Legius es un trastorno autosomico dominante resultante de la mutacion del gen SPRED1, que implica perdida de funcion de una de las proteinas implicada en la via patogenica RAS-MAPK, similar a la neurofibromina y por ello muestra similitudes clinicas con la neurofibromatosis tipo 1 (NF1), pero con menor gravedad. Estos pacientes presentan multiples manchas cafe con leche y pueden asociar efelides, rasgos dismorficos, lipomas y trastornos del aprendizaje sin relacionarse con la aparicion de neurofibromas, gliomas opticos, nodulos de Lisch o predisposicion tumoral. Caso clinico. Niño de 10 meses, sin antecedentes personales de interes, que consulta por hipotonia de extremidades, manchas cafe con leche y leve retraso psicomotor. En los antecedentes familiares destaca una hermana de la madre y el abuelo materno con manchas cafe con leche. En nuestro paciente, el estudio genetico fue negativo para NF1, pero se hallo una mutacion en el gen SPRED1, compatible con el sindrome de Legius. La madre asintomatica presenta la misma mutacion en el gen SPRED1. Conclusion. Es de destacar la importancia del diagnostico diferencial de NF1, con las numerosas complicaciones que puede conllevar, con una entidad recientemente descrita de mejor pronostico como es el sindrome de Legius.

  15. Asperger Syndrome In Adulthood: A Review

    Directory of Open Access Journals (Sweden)

    Ali Tufan

    2011-09-01

    Full Text Available Asperger’s syndrome (AS is one of the disorders classified under pervasive developmental disorders. Individuals with AS have problems in social interaction, unusual special interests, and a tendency to ritualized behavior. AS is a chronic disorder that affects the social, occupational, sexual and psychological functionality of individiuals with AS. This review was prepared on the basis of a selective literature review by Pubmed and information in relevant reference books. As a result, longitudinal studies are deemed to be necessary to be able understand the features of AS in adulthood.

  16. Lesch-Nyhan syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Kale A

    2008-05-01

    Full Text Available Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching. It is a rare anomaly consisting of deficiency in the production of hypoxanthine phosphoribosyltransferase that leads to the overproduction of purine and accumulation of uric acid. No medical treatment exists to alleviate the symptoms of self-mutilation where direct dental intervention is the only way these behavior can be affected. A unique case of this type affecting a 6-year-old male child is reported.

  17. A Rare Clinical Condition: Erasmus Syndrome

    Directory of Open Access Journals (Sweden)

    Yunus Ugan

    2016-07-01

    Full Text Available Systemic sclerosis (SS is a systemic autoimmune disease progressing with fibrosis of the skin and internal organs, the cause of which cannot be precisely explained. The disease is known to be associated with environmental factors. In particular, exposure to silica powders is believed to have a part in the pathogenesis of the disease by the triggering of a number of immune reactions. Silicosis and SS association is defined as Erasmus Syndrome (ES. Here, we report on a 30-year-old patient working in denim sandblasting who developed SS while being followed for 6 years due to silicosis.

  18. [Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case

    Science.gov (United States)

    Silva, E O; Freitas, E M; Costa, S M; Duarte, A R

    1999-01-01

    OBJECTIVE: To describe an atypical case of Down syndrome presenting with additional clinical manifestations that might be components of Kabuki (Niikawa-Kuroki) syndrome.CLINICAL REPORT: We report the clinical history of a 19-month-old girl with a 47,XX, +21 karyotype, who presented brachycephaly, flat face, long palpebral fissures, eversion of the lateral portion of the lower eyelids, arched eyebrows with sparse lateral regions, long eyelashes, epicanthus, cortical cataract, small ears, protruding tongue, muscular hypotonia, developmental delay, hyperflexibility of joints, brachydactyly, and dermatoglyphic abnormalities.CONCLUSION: The diagnosis of Down syndrome was confirmed cytogenetically. However, the presence of additional anomalies - mainly in the ocular region - suggested that the child might also have the Kabuki syndrome.

  19. Incomplete Horner syndrome: Report of a case and description of the sympathetic nervous system anatomy involved in Horner syndrome.

    Science.gov (United States)

    Garbo, Grant M; Harmatz, Alexander J; Isaacson, Glenn

    2011-02-01

    Horner syndrome, in which ptosis, miosis, and anhidrosis occur concomitantly, can arise from injury to the sympathetic nerve pathways anywhere from the brain to the end organs. Incomplete Horner syndrome lacks the sign of anhidrosis. We present a case of incomplete Horner syndrome caused by internal carotid artery dissection and provide a road map of the cervical sympathetic nerves involved in Horner syndrome to explain its etiology. We also discuss the imaging of and therapy for internal carotid artery dissections.

  20. A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome

    OpenAIRE

    2014-01-01

    The clinical classification of Robinow-Sorauf syndrome has changed over the last few decades. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces. The current outlook is that the ‘Robinow-Sorauf’ families are examples of variable expression of the TWIST mutant phenotype and that the ‘Robinow-Sorauf’ syndrome lies within the spectrum of the Saethre-Chotzen syndrome. We present a case of 19-year-old female p...

  1. Pediatric Ramsay Hunt syndrome: A rare clinical entity

    Directory of Open Access Journals (Sweden)

    Natashya Hilda Sima

    2016-01-01

    Full Text Available Ramsay Hunt syndrome is a rare cause of facial nerve paralysis in children, caused due to reactivation of latent Varicella–Zoster virus within the geniculate ganglion. In addition to the facial nerve, Ramsay Hunt syndrome may also affect the vestibulocochlear nerve leading to inner ear dysfunction and in severe case may also involve other cranial nerves. We report a case of Ramsay Hunt syndrome in a 15-year-old child.

  2. Nonsurgical treatment of stylohyoid (Eagle) syndrome: a case report.

    Science.gov (United States)

    Taheri, Arman; Firouzi-Marani, Shahram; Khoshbin, Masoud

    2014-10-01

    Eagle syndrome is a rare condition caused by elongation of the styloid process or calcification of the stylohyoid ligament. Patients with Eagle syndrome typically present with dysphagia, dysphonia, cough, voice changes, otalgia, sore throat, facial pain, foreign body sensation, headache, vertigo, and neck pain. Here we report a case in which the patient initially presented with sore throat, left-sided facial pain, and cough. This case report provides a brief review of the diagnosis and nonsurgical management of this rare syndrome.

  3. Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome

    OpenAIRE

    G Bhaskararao; Himabindu, Y; Samir Ranjan Nayak; M Sriharibabu

    2014-01-01

    Complete Androgen insensitivity syndrome is a disorder of hormone resistance characterized by a female phenotype in an individual with an XY karyotype. The pathogenesis of CAIS involves a defective androgen receptor gene located on X-chromosome at Xq11-12and end organ insensitivity to androgens, although androgen concentrations are appropriate for the age of the patient. There are three major types of androgen insensitivity syndrome: Complete androgen insensitivity syndrome, minimal androgen ...

  4. Incomplete McCune-Albright Syndrome: A Case Report

    OpenAIRE

    Nagehan Aslan

    2014-01-01

    Fibrous dysplasia of bone is a genetic, non-inheritable disease that can cause bone pain, bone deformities and fracture. It has a large clinic spectrum from benign monostotic fibrous dysplasia to McCune-Albright syndrome. Rare McCune-Albright syndrome is characterized by precocious puberty, cafe au lait spots and fibrous dysplasia. Herein we presented a case who was preferred to hospital with pathological fractures and diagnosed with Incomplet McCune Albright syndrome because of the lack of e...

  5. A rare cause of pancytopenia: Sheehan′s syndrome

    OpenAIRE

    Mustafa Volkan Demir; Selçuk Yaylaci; Tuba Öztürk Demir; Tayfun Temiz; Ahmet Bilal Genç

    2015-01-01

    Sheehan′s syndrome is characterized by varying degrees of anterior pituitary dysfunction due to postpartum ischemic necrosis of the pituitary gland after massive bleeding. Pancytopenia is rarely observed in patients with Sheehan′s syndrome. We present a patient of Sheehan′s syndrome presenting with pancytopenia. Complete recovery of pancytopenia was observed after the treatment. Clinicians should consider the possibility of hypopituitarism as a cause of pancytopenia and indicate a series of h...

  6. McGibbon Syndrome: A report of three siblings

    Directory of Open Access Journals (Sweden)

    J Maria Rajathi

    2013-01-01

    Full Text Available Amelogenesis Imperfecta (AI is a collective term for a number of developmental conditions characterized by abnormal enamel formation. Only a few cases of AI have been reported to occur in association with syndromes and metabolic conditions. McGibbon Syndrome or AI and Nephrocalcinosis Syndrome are such disorders with defective enamel and renal calcifications. Early diagnosis of this condition is essential to prevent renal failure and death of the patient.

  7. Direct evidence of complement activation in HELLP syndrome: A link to atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Vaught, Arthur J; Gavriilaki, Eleni; Hueppchen, Nancy; Blakemore, Karin; Yuan, Xuan; Seifert, Sara M; York, Sarah; Brodsky, Robert A

    2016-05-01

    HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets) is a severe variant of pre-eclampsia whose pathogenesis remains unclear. Recent evidence and clinical similarities suggest a link to atypical hemolytic uremic syndrome, a disease of excessive activation of the alternative complement pathway effectively treated with a complement inhibitor, eculizumab. Therefore, we used a functional complement assay, the modified Ham test, to analyze sera of women with classic or atypical HELLP syndrome, pre-eclampsia with severe features, normal pregnancies, and healthy nonpregnant women. Sera were also evaluated using levels of the terminal product of complement activation (C5b-9). We tested the in vitro ability of eculizumab to inhibit complement activation in HELLP serum. Increased complement activation was observed in participants with classic or atypical HELLP compared with those with normal pregnancies and nonpregnant controls. Mixing HELLP serum with eculizumab-containing serum resulted in a significant decrease in cell killing compared with HELLP serum alone. We found that HELLP syndrome is associated with increased complement activation as assessed with the modified Ham test. This assay may aid in the diagnosis of HELLP syndrome and could confirm that its pathophysiology is related to that of atypical hemolytic uremic syndrome.

  8. TRAP SYNDROME: A RARE ENTITY

    OpenAIRE

    Varsha; Kanan; Chanda,, Abhra; Qazi,, S.

    2014-01-01

    TRAP (Twin Reversed Arterial Perfusion) sequence is a rare complication of monozygotic twin pregnancy. It is due to defect in early pregnancy where there is defective arterial anastomosis in placenta. This results in a fetus with an absent heart (acardiac twin). This acardiac twin has a poorly developed upper body and head also. The pump twin (with a normal heart) is also at a risk of heart failure and problems related to preterm birth1.

  9. TRAP SYNDROME: A RARE ENTITY

    Directory of Open Access Journals (Sweden)

    Varsha

    2014-04-01

    Full Text Available TRAP (Twin Reversed Arterial Perfusion sequence is a rare complication of monozygotic twin pregnancy. It is due to defect in early pregnancy where there is defective arterial anastomosis in placenta. This results in a fetus with an absent heart (acardiac twin. This acardiac twin has a poorly developed upper body and head also. The pump twin (with a normal heart is also at a risk of heart failure and problems related to preterm birth1.

  10. Neuroleptic malignant syndrome: A diagnostic challenge

    Directory of Open Access Journals (Sweden)

    Reshma P Ambulkar

    2012-01-01

    Full Text Available We report the case of a 7-year-old girl operated for craniopharyngioma who developed hyperkalemic cardiac arrest in the post-operative period. She was diagnosed as Neuroleptic malignant syndrome (NMS and the causative drug was carbamazepine. It was essentially a diagnosis of exclusion, and treatment was mainly supportive in form of withdrawal of the neuroleptic medication (carbamazepine and administration of dantrolene and bromocriptine. Although, relatively uncommon, NMS can be fatal. NMS presents a clinical challenge as the patient outcome depends on its prompt recognition and treatment.

  11. A case of treacher collins syndrome.

    Science.gov (United States)

    Ulusal, S; Gürkan, H; Vatansever, U; Kürkçü, K; Tozkir, H; Acunaş, Ba

    2013-12-01

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c.1021_1022delAG mutation.

  12. The metabolic syndrome: a brain disease?

    Science.gov (United States)

    Buijs, Ruud M; Kreier, Felix

    2006-09-01

    The incidence of obesity with, as consequence, a rise in associated diseases such as diabetes, hypertension and dyslipidemia--the metabolic syndrome--is reaching epidemic proportions in industrialized countries. Here, we provide a hypothesis that the biological clock which normally prepares us each morning for the coming activity period is altered due to a modern life style of low activity during the day and late-night food intake. Furthermore, we review the anatomical evidence supporting the proposal that an unbalanced autonomic nervous system output may lead to the simultaneous occurrence of diabetes type 2, dyslipidemia, hypertension and visceral obesity.

  13. Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome.

    Science.gov (United States)

    Pier, Danielle B; Nunes, Fabio P; Plotkin, Scott R; Stemmer-Rachamimov, Anat O; Kim, James C; Shih, Helen A; Brastianos, Priscilla; Lin, Angela E

    2014-01-01

    Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed.

  14. Aortic Involvement in Pediatric Marfan syndrome: A Review.

    Science.gov (United States)

    Ekhomu, Omonigho; Naheed, Zahra J

    2015-06-01

    Outlining specific protocols for the management of pediatric patients with Marfan syndrome has been challenging. This is mostly due to a dearth of clinical studies performed in pediatric patients. In Marfan syndrome, the major sources of morbidity and mortality relate to the cardiovascular system. In this review, we focus on aortic involvement seen in pediatric patients with Marfan syndrome, ranging from aortic dilatation to aortic rupture and heart failure. We discuss the histological, morphological, and pathogenetic basis of the cardiac manifestations seen in pediatric Marfan syndrome and use a specific case to depict our experienced range of cardiovascular manifestations. The survival for patients with Marfan syndrome may approach the expected survival for non-affected patients, with optimal management. With this potentiality in mind, we explore possible and actual management considerations for pediatric Marfan syndrome, examining both medical and surgical therapy modalities that can make the possibility of improved survival a reality.

  15. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

    Science.gov (United States)

    Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J

    2015-01-01

    Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  16. Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome

    Directory of Open Access Journals (Sweden)

    G Bhaskararao

    2014-01-01

    Full Text Available Complete Androgen insensitivity syndrome is a disorder of hormone resistance characterized by a female phenotype in an individual with an XY karyotype. The pathogenesis of CAIS involves a defective androgen receptor gene located on X-chromosome at Xq11-12and end organ insensitivity to androgens, although androgen concentrations are appropriate for the age of the patient. There are three major types of androgen insensitivity syndrome: Complete androgen insensitivity syndrome, minimal androgen insensitivity syndrome, and partial androgen insensitivity syndrome. Management of androgen insensitivity syndrome includes multidisciplinary approach and involves gonedectomy to avoid gonadal tumors in later life. Hormone replacement therapy (HRT and psychological support are required in long-term basis.

  17. Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient

    Directory of Open Access Journals (Sweden)

    Pedro Morgado

    2015-01-01

    Full Text Available Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient’s symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

  18. A test of syndromic surveillance using a severe acute respiratory syndrome model.

    Science.gov (United States)

    Wallace, David J; Arquilla, Bonnie; Heffernan, Richard; Kramer, Martin; Anderson, Todd; Bernstein, David; Augenbraun, Michael

    2009-05-01

    We describe a field simulation that was conducted using volunteers to assess the ability of 3 hospitals in a network to manage a large influx of patients with a potentially communicable disease. This drill provided the opportunity to evaluate the ability of the New York City Department of Health and Mental Hygiene's (NYC-DOHMH) emergency department chief complaint syndromic surveillance system to detect a cluster of patients with febrile respiratory illness. The evaluation was a prospective simulation. The clinical picture was modeled on severe acute respiratory syndrome symptoms. Forty-four volunteers participated in the drill as mock patients. Records from 42 patients (95%) were successfully transmitted to the NYC-DOHMH. The electronic chief complaint for 24 (57%) of these patients indicated febrile or respiratory illness. The drill did not generate a statistical signal in the NYC-DOHMH SaTScan analysis. The 42 drill patients were classified in 8 hierarchical categories based on chief complaints: sepsis (2), cold (3), diarrhea (2), respiratory (20), fever/flu (4), vomit (3), and other (8). The number of respiratory visits, while elevated on the day of the drill, did not appear particularly unusual when compared with the 14-day baseline period used for spatial analyses. This drill with a cluster of patients with febrile respiratory illness failed to trigger a signal from the NYC-DOHMH emergency department chief complaint syndromic surveillance system. This highlighted several limitations and challenges to syndromic surveillance monitoring.

  19. A case of refeeding syndrome in a marine recruit.

    Science.gov (United States)

    Bunge, Paul D; Frank, Laura L

    2013-04-01

    Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission.

  20. Catastrophic antiphospholipid syndrome: a clinical review.

    Science.gov (United States)

    Nayer, Ali; Ortega, Luis M

    2014-01-01

    Catastrophic antiphospholipid syndrome (CAPS) is a rare life-threatening autoimmune disease characterized by disseminated intravascular thrombosis resulting in multiorgan failure. Directory of Open Access Journals (DOAJ), Google Scholar, PubMed (NLM), LISTA (EBSCO) and Web of Science have been searched. CAPS is due to antiphospholipid antibodies directed against a heterogeneous group of proteins that are associated with phospholipids. These autoantibodies activate endothelial cells, platelets, and immune cells, thereby promoting a proinflammatory and prothrombotic phenotype. Furthermore, antiphospholipid antibodies inhibit anticoagulants, impair fibrinolysis, and activate complements. Although CAPS can affect a variety of organs and tissues, the kidneys, lungs, central nervous system, heart, skin, liver, and gastrointestinal tract are most commonly affected. The systemic inflammatory response syndrome, likely to extensive tissue damage, accompanies CAPS. The most frequent renal manifestations are hypertension, proteinuria, hematuria, and acute renal failure.In the majority of patients with CAPS, a precipitating factor such as infection, surgery, or medication can be identified. Antiphospholipid antibodies such as lupus anticoagulant and antibodies against cardiolipin, β2-glycoprotein I, and prothrombin are serological hallmark of CAPS. Laboratory tests often reveal antinuclear antibodies, thrombocytopenia, and anemia. Despite widespread intravascular coagulation, blood films reveal only a small number of schistocytes. In addition, severe thrombocytopenia is uncommon. Histologically, CAPS is characterized by acute thrombotic microangiopathy. CAPS must be distinguished from other forms of thrombotic microangiopathies such as hemolytic-uremic syndrome, thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, and heparin-induced thrombocyt openia. CAPS is associated with high morbidity and mortality. Therefore, an aggressive multidisciplinary

  1. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

    OpenAIRE

    Shakiba, Marjan; Habibe NEZHAD BIEGLARI; Mohammad Reza ALAEE

    2012-01-01

    How to cite this article: Shakiba M, Nejad Biglari H, Alaee MR. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?Iran J Child Neurol Autumn 2012; 6(4): 51-54.  Abstract Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us becaus...

  2. PFEIFFER TYPE I SYNDROME: A GENETICALLY PROVEN CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sh. Salehpour

    2008-06-01

    Full Text Available ObjectivePfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population. At the best of our knowledge this is the first genetically proven case report from Iran. The authors report with a review of literature, the case of a infant with Pfeiffer syndrome, manifested by Lacunar skull, ventriculomegaly, bicoronal craniosynostosis,frontal bossing, shallow orbits, parrot-like nose, umbilical hernia, broad and medially deviated great toes.

  3. Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Neerja Gupta

    2013-01-01

    Full Text Available Peters’ plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters’ plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

  4. Omenn’s Syndrome: A rare primary immunodeficiency disorder

    OpenAIRE

    Elnour, Ibtisam B; Ahmed, Shakeel; Halim, Kamal; Nirmala, V

    2007-01-01

    Over the last 17 years different forms of severe combined immunodeficiency have been diagnosed at Sultan Qaboos University Hospital, Muscat. Omenn’s syndrome is a rare autosomal recessive form of severe combined immunodeficiency. We report a 6 weeks old Omani infant who presented with the characteristic clinical and immunological phenotype of Omenn’s syndrome. We take the opportunity to discuss and review the immunological aspect of this rare syndrome.

  5. A volumetric study of parietal lobe subregions in Turner syndrome

    OpenAIRE

    Brown, Wendy E.; Shelli R Kesler; Eliez, Stephan; Warsofsky, Ilana S.; Haberecht, Michael; Reiss, Allan L.

    2004-01-01

    Turner syndrome, a genetic disorder that results from the complete or partial absence of an X chromosome in females, has been associated with specific impairment in visuospatial cognition. Previous studies have demonstrated a relationship between parietal lobe abnormalities and visuospatial deficits in Turner syndrome. We used high-resolution magnetic resonance imaging to measure parietal lobe subdivisions in 14 participants with Turner syndrome (mean age 13 years 5 months, SD 5 years) and 14...

  6. Refeeding syndrome in a cat with hepatic lipidosis.

    Science.gov (United States)

    Brenner, Karen; KuKanich, Kate S; Smee, Nicole M

    2011-08-01

    Refeeding syndrome is characterized by severe hypophosphatemia occurring in patients given enteral or parenteral nutrition after severe weight loss. There are few veterinary reports that describe this syndrome but it is well documented in human medicine. This report describes a case of a domestic shorthair cat diagnosed with hepatic lipidosis following a 4-week history of decreased appetite and weight loss and in whom refeeding syndrome was documented after initiation of enteral nutrition. Clinical findings, blood work abnormalities and disease progression in this patient are described from the time of diagnosis through to recovery. A review of the current literature pertinent to this clinical syndrome is included.

  7. A rare cause of pancytopenia: Sheehan′s syndrome

    Directory of Open Access Journals (Sweden)

    Mustafa Volkan Demir

    2015-01-01

    Full Text Available Sheehan′s syndrome is characterized by varying degrees of anterior pituitary dysfunction due to postpartum ischemic necrosis of the pituitary gland after massive bleeding. Pancytopenia is rarely observed in patients with Sheehan′s syndrome. We present a patient of Sheehan′s syndrome presenting with pancytopenia. Complete recovery of pancytopenia was observed after the treatment. Clinicians should consider the possibility of hypopituitarism as a cause of pancytopenia and indicate a series of hormonal examinations. A high index of suspicion is required in women with pancytopenia for possible treatable cause like Sheehan′s syndrome.

  8. Ramsay hunt syndrome: A diagnostic challenge for general dental practitioners

    Directory of Open Access Journals (Sweden)

    Gautham Singh

    2017-01-01

    Full Text Available Ramsay hunt syndrome is not just a syndrome but it's rather an infectious disease caused by reactivation of latent varicella-zoster virus in geniculate ganglion. This was first explained by J. Ramsay Hunt as a triad of complications like otalgia, mucosal and cutaneous rashes with or without trigeminal facial palsy. The facial palsy can occur with characteristic vesicles along the path of nerve. We present a case of Ramsay Hunt syndrome in a 48-year-old male. The unilateral pattern of facial involvement and presence of vesicles assisted us for early diagnosis, distinguishing the syndrome with diseases mimicking other severe neurological illnesses and prompt treatment.

  9. Woakes' syndrome. A case report

    OpenAIRE

    2015-01-01

    [ES] Introducción: El síndrome de Woakes se define como una etmoiditis deformante con ensanchamiento de la pirámide nasal debido a una rinosinusitis crónico con poliposis nasal desde la infancia. Es un tipo de rinosinusitis crónica con pólipos nasales (RSCcPN) que se caracteriza por la aparición de unos pólipos fibrosos de gran tamaño que tienden a ocupar totalmente las fosas nasales y senos paranasales y a recidivar con frecuencia. Caso Clínico: Presentamos un hombre de 66 años que acude a c...

  10. Yellow Nail Syndrome - a Case Report

    Directory of Open Access Journals (Sweden)

    Paravina Mirjana

    2015-06-01

    Full Text Available Yellow nail syndrome is a rare disease of unknown etiology. It is clinically characterized by a triad of yellow nails, lymphedema at one or more sites, and chronic respiratory disease (bronchitis, bronchiectasis and rhinosinusitis. All nails may be affected, but some may be spared. The nail plates are yellowish green, thickened, occasionally with transverse ridging and onycholysis, with increased longitudinal and transversal over-curvature, with partial or complete separation of the nail plate from the nail bed, without lunula and cuticle and slow nail growth rate. The lymphedema is usually peripheral, affecting the lower limbs, or in the form of pleural effusion.

  11. Syndromic surveillance: A necessary public health tool

    Directory of Open Access Journals (Sweden)

    Fatimah Lateef

    2012-01-01

    Full Text Available Of late much has been said about emerging infectious diseases and the threat of bioterrorism. The focus has been on continuous public health surveillance for early detection of outbreaks and potential threats. Preparedness is the way forward and relevant institutions and organizations need to make the necessary investments early. Familiarity, good coordination, active participation and a change of mindset amongst personnel is crucial to make the system work. We also share a general approach to using electronic Emergency Department data for syndromic surveillance.

  12. Reversible cerebral vasconstriction syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jeong Sub; Park, Ji Kang; Kim, Seung Hyoung; Jeong, Sun Young [Jeju National University Hospital, Jeju National University School of Medicine, Jeju (Korea, Republic of)

    2013-11-15

    We report a 46-year-old woman patient with reversible cerebral vasoconstriction syndrome (RCVS). She presented with severe headache, multiple cerebral infarction, and multifocal severe stenosis in the intracranial arteries on magnetic resonance angiography (MRA). One month after the episode, a small bowel gastrointestinal stromal tumor (GIST) was incidentally detected during the evaluation of severe anemia and GIST was removed. Follow-up MRA was performed 3 months and 1 year after an initial attack of headache, and multifocal severe intracranial arterial stenotic lesions were completely resolved, she did not experience any episode of RCVS during the 2 years.

  13. A common pathway in periodic fever syndromes.

    Science.gov (United States)

    McDermott, Michael F

    2004-09-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disease due to mutations in pyrin, which normally inhibits pro-interleukin-1beta (IL-1beta) cytokine processing to the active form. A novel role for pyrin has been proposed by Shoham et al., who studied patients with an autosomal dominant disease called pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. They demonstrated an interaction between pyrin and proline serine threonine phosphatase-interacting protein 1 (PSTPIP1), the protein involved in PAPA, and thus revealed a biochemical pathway common to both FMF and PAPA.

  14. A Pediatric Case of Ramsay Hunt Syndrome

    Directory of Open Access Journals (Sweden)

    Serhan Derin

    2014-01-01

    Full Text Available Ramsay Hunt syndrome (RHS is characterized by facial paralysis, inner ear dysfunction, periauricular pain, and herpetiform vesicles. The reported incidence in children is 2.7/100,000. The pathogenesis involves the reactivation of latent varicella zoster virus (VZV in the geniculate ganglion of the facial nerve. The recovery rate is better in children than in adults. This paper discusses a 12-year-old girl with a rare case of peripheral facial paralysis caused by RHS and reviews the literature.

  15. Kartagener syndrome: a rare genetic disorder.

    Science.gov (United States)

    Shakya, K

    2009-01-01

    Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure and/or function resulting in multisystem diseases of various severity. Clinical manifestations include lifelong, chronic upper and lower respiratory tract diseases secondary to ineffective mucociliary clearance. Early diagnosis and management of chest infections can prevent irreversible damage to lungs and prevent potential lifelong complications. This case report is on a patient who presented with long standing history of sinusitis, bronchiectasis and on examination situs inversus with dextrocardia.

  16. SAPHO syndrome in childhood. A case report.

    Science.gov (United States)

    Vargas Pérez, Manuel; Sevilla Pérez, Belén

    2016-12-16

    The acronym of SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) combines a cluster of cutaneous and musculoskeletal manifestations, such as hyperostosis of bones of the anterior chest wall associated with acne fulminans and hidradenitis suppurativa. There are no validated diagnostic criteria in children. Nonsteroidal anti-inflammatory drugs are not always sufficient, and the use of corticosteroids, disease-modifying agents, tumor necrosis factor-α inhibitors or bisphosphonates may be necessary. We present the case of a child with polyarticular involvement, osteoarthritis of the sternoclavicular joint with severe inflammatory disorders and acne conglobata, with an excellent response to intravenous pamidronate.

  17. Harbinger of plague: a bad case of gay bowel syndrome.

    Science.gov (United States)

    Scarce, M

    1997-01-01

    In 1976, a group of physicians in private proctologic practice in New York City coined the illness "Gay Bowel Syndrome" in reference to a constellation of gay male anorectal disorders. Through analysis of biomedical discourse and popular media, it is apparent that Gay Bowel Syndrome is an essentialized category of difference that is neither gay-specific, confined to the bowel, nor a syndrome. The use and diagnosis of Gay Bowel Syndrome must be abandoned before it further lends itself to the formation of social policies and governing practices that seek to force gay male bodies into positions of social, cultural, and political subordination.

  18. Multiple anesthetics for a patient with stiff-person syndrome.

    Science.gov (United States)

    Cassavaugh, Jessica M; Oravitz, Todd M

    2016-06-01

    Stiff-person syndrome is a progressive disease of muscle rigidity and spasticity due to a deficiency in the production of γ-aminobutyric acid. Because of the rarity of the condition, little is known about effects of anesthesia on patients with stiff-person syndrome. This report describes the clinical course for a single patient with stiff-person syndrome who received general anesthesia on 3 separate occasions. Her anesthetics included use of both neuromuscular blockade and volatile agents. Unlike several previous reports regarding anesthesia and stiff-person syndrome, the postoperative period for this patient did not require prolonged intubation or result in any residual weakness.

  19. Ellis-van Creveld syndrome: A rare clinical entity

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    Reet Kamal

    2013-01-01

    Full Text Available Ellis-van Creveld (EVC syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature.

  20. Ellis-van Creveld syndrome: A rare clinical entity.

    Science.gov (United States)

    Kamal, Reet; Dahiya, Parveen; Kaur, Simerpreet; Bhardwaj, Rohit; Chaudhary, Karun

    2013-01-01

    Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature.

  1. Kabuki Syndrome: a case report with severe ocular abnormalities

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    Flavio Mac Cord Medina

    2013-10-01

    Full Text Available Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

  2. Sheehan's syndrome presenting as psychosis: a rare clinical presentation.

    Science.gov (United States)

    Shoib, Sheikh; Dar, Mohamand Maqbool; Arif, Tasleem; Bashir, Haamid; Bhat, Mohammad Hayat; Ahmed, Javid

    2013-02-01

    Sheehan's syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan's syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan's syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan's syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state.

  3. Bronchiolitis as a feature of kartagener syndrome: a case report.

    Science.gov (United States)

    Ozkaya, Sevket; Sahin, Unal; Gumus, Aziz; Taşç, Filiz; Cnarka, Halit; Yavuz, Asiye

    2011-01-01

    Kartagener syndrome (KS), also known as immotile cilia syndrome or as a primary ciliary dyskinesia, is characterized by the triad of situs inversus, bronchiectasis, and chronic pansinusitis. A few studies reported that diffuse bronchiolitis might be one of the characteristic features of the lung in KS. We aimed to present the radiologic characteristics of KS, including diffuse bronchiolitis, sinus aplasia, and situs inversus totalis in a single case.

  4. A case with Bloom Syndrome

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    Füsun Düzcan

    2008-10-01

    Full Text Available BS is a rare, autosomal recessive disorder characterized by telangiectasias, photosensitivity, growth deficiency of prenatal onset, immunodeficiency, increased susceptibility to malignancies and diabetes mellitus. There is an increased risk of developing neoplasia at early ages. Chromosomal fractures and an increase in sister chromatid exchanges are observed in BS that presents prominent genetic instability. A sixteen year old boy applied to our clinic with complaint of erythema on his face having existed since infancy. In physical examination of the patient in whom growth retardancy has been determined, a narrow, long face, prognatism, an erythematous telangiectatic blanchable patch involving malar areas, nose, forehead, and temples have been established. The patient whose sister chromatid exchange number was determined as 107/cell in cytogenetic analyse, was cited as BS together with his phenotypic findings. The patient has been taken into follow-up in terms of cancer risk and the family was genetically informed. (Turkderm 2008; 42: 94-6

  5. The LSD syndrome. A review.

    Science.gov (United States)

    Eveloff, H H

    1968-11-01

    lsd (lysergic acid diethylamide) is a powerful bio-active substance related to serotonin in structure. Its actions generally affect autonomic, sensory and psychological functions. Autonomic stimulation is varied. Sensory responses are usually visual, involving heightened and distorted color perception and fusion of sensory impressions. Psychological responses include a feeling that a unique experience is occurring; feelings of depersonalization; pronounced fluctuation of mood; time and space distortions; autistic phenomena; fluctuation of aggressive drives (usually reduction); and spontaneous reoccurrence of the lsd experience. THE SUBJECTIVE RESPONSES CAN BE RELATED TO THREE BASIC PHENOMENA: (1) expectation; (2) loss of characteristic modes of perceptual and cognitive patterning; and (3) hypersuggestibility. THE MAJOR ADVERSE REACTIONS ARE: (1) chronic drug dependence including subsequent personality changes and depressive reactions; and (2) acute ego dissolution. These reactions usually occur in already emotionally ill people. Most of these users fall into two groups, those with unresolved identity problems and those with severe ego abnormality. The majority of adverse reactions are of the chronic drug dependence type and are usually seen in adolescents and young adults who have not negotiated the age-appropriate tasks of forming and integrating the various identities that are the composite of their life experiences.lsd helps alleviate these stresses via some of its psychological properties as discussed. It also provides a nidus for the formation of a subculture where goals for social, sexual and vocational achievement are lower and idiosyncratic modes of adaptation are better tolerated. A smaller group of users who have serious reactions such as psychosis, rage reactions, homicidal and suicidal ideation are usually found to have preexisting ego abnormality such as ambulatory schizophrenia, chronic impulse disorders and borderline states. Although adverse

  6. PFAPA syndrome is not a sporadic disease.

    Science.gov (United States)

    Cochard, Marie; Clet, Johanna; Le, Lan; Pillet, Pascal; Onrubia, Xavier; Guéron, Thierry; Faouzi, Mohammed; Hofer, Michaël

    2010-10-01

    To determine whether PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) patients have a positive family history (FH) for recurrent fever syndromes. For all patients with PFAPA seen in two paediatric rheumatology centres (Romandy, Switzerland and Bordeaux, France), parents were interviewed to record the FH for periodic fever. As controls, we interviewed a group of children without history of recurrent fever. We recruited 84 patients with PFAPA and 47 healthy children. The FH for recurrent fever (without an infectious cause and recurring for at least half a year) was positive in 38/84 (45%), and was positive for PFAPA (diagnosis confirmed by a physician) in 10/84 (12%) of the PFAPA patients. For 29 of the 38 patients with positive FH, the affected person was a sibling or a parent. None of the healthy children had a positive FH for recurrent fever or PFAPA. A positive FH for rheumatological diseases was seen in both groups of children. These data show that a significant percentage of PFAPA patients present a positive FH of recurrent fever and PFAPA. This familial susceptibility suggests a potential genetic origin for this syndrome.

  7. A chromosomal breakage syndrome with profound immunodeficiency.

    Science.gov (United States)

    Conley, M E; Spinner, N B; Emanuel, B S; Nowell, P C; Nichols, W W

    1986-05-01

    The chromosomal breakage syndromes--ataxia-telangiectasia, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21-year-old female with more severe chromosomal breakage, immunodeficiency, and growth failure than in any of the mentioned disorders. As of November 1985, the patient remains clinically free of malignancy. At age 18, the patient's weight was 22.6 kg (50th percentile for seven years), height was 129 cm (50th percentile for eight years), and head circumference was 42 cm (50th percentile for six months). Laboratory studies demonstrated a marked decrease in both B and T cell number and function. The peripheral blood contained 400 to 900 lymphocytes/microL with 32% T11 cells, 17% T4 cells, and 21% T8 cells. The proliferative responses to phytohemagglutinin (PHA), pokeweed mitogen, and concanavalin A were less than 10% of control. There were 1% surface IgM positive cells, and serum IgG was 185 mg/dL, IgM 7 mg/dL, IgA 5 mg/dL. In lymphocyte cultures stimulated with the T cell mitogens PHA, phorbol ester, and interleukin 2, 55% of the banded metaphases demonstrated breaks or rearrangements. The majority of the breaks involved four fragile sites on chromosomes 7 and 14, 7p13, 7q35, 14q11, and 14q32. These are the sites of the genes for the T cell-antigen receptor and the immunoglobulin heavy chain and are sites of gene rearrangement in lymphocyte differentiation. Epstein-Barr virus stimulated B cells and fibroblast cultures also demonstrated a high incidence of breaks, but the sites were less selective. These findings suggest that the sites of chromosomal fragility in the chromosomal breakage syndromes may be informative and that factors other than the severity of the immunodeficiency or the high incidence of chromosomal damage may contribute to the occurrence of malignancy in the

  8. A rare cause of tall stature: Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-12-01

    Full Text Available Sotos syndrome is an excessive growth syndrome and is characterized by macrocephaly, typical facial appearance and mental retardation. The majority of cases are sporadic, autosomal dominant inheritance pattern matching families have been reported. Syndrome responsible for gen encodes the nuclear receptor-binding SET domain1 (NSD1 protein. This rare genetic syndrome firstly described by Sotos et al. in 1964 at five cases with excessive height, acromegalic appearance and mild mental retardation. Hairline high forehead, macrocephaly, frontal bossing, long and thin face, frontotemporal hair sparseness, down slanting palpebral fissures and prominent mandible creating characteristic facial appearance and advanced bone age and varying degrees of mental retardation are other diagnostic criteria. Cardiovascular, central nervous system and genitourinary system anomalies may be associated with syndrome. In this case report we presenting a case who admitted to our clinic because of the rapid growth and mild mental retardation and diagnosed with Sotos syndrome for emphasize the importance of growth monitoring.

  9. Bipolar disorder and metabolic syndrome: a systematic review

    OpenAIRE

    Letícia Czepielewski; Ledo Daruy Filho; Elisa Brietzke; Rodrigo Grassi-Oliveira

    2013-01-01

    OBJECTIVE: Summarize data on metabolic syndrome (MS) in bipolar disorder (BD). METHODS: A systematic review of the literature was conducted using the Medline, Embase and PsycInfo databases, using the keywords "metabolic syndrome", "insulin resistance" and "metabolic X syndrome" and cross-referencing them with "bipolar disorder" or "mania". The following types of publications were candidates for review: (i) clinical trials, (ii) studies involving patients diagnosed with bipolar disorder or (ii...

  10. Sagging eye syndrome presenting as a form of strabismus fixus.

    Science.gov (United States)

    Shin, Min Ho; Jung, Ji Sung; Kim, Dae Hyun

    2015-04-01

    Lateral rectus-superior rectus band degeneration with aging is the major cause of sagging eye syndrome, which usually presents with small-angle esotropia or hypotropia. In contrast, heavy eye syndrome, also called myopic strabismus fixus, is characterized by profound esotropia and hypotropia with the eyeball fixed nasally. We report the case of a 71-year-old man with sagging eye syndrome presenting with strabismus fixus and no myopia.

  11. Abdominal aortic thrombosis in a patient with nephrotic syndrome.

    Science.gov (United States)

    Nakamura, M; Ohnishi, T; Okamoto, S; Yamakado, T; Isaka, N; Nakano, T

    1998-01-01

    We report a patient who presented with severe nephrotic syndrome complicated with infrarenal aortic and right renal arterial thrombosis. The nephrotic syndrome frequently causes thromboembolic complications in veins, but arterial thrombosis is relatively rare, especially in the aorta. Various predisposing factors leading to thromboembolic complications are discussed. In this case, the thromboembolic complication may have some clinical association with the hypercoagulable state in nephrotic syndrome.

  12. Long QT syndrome: A therapeutic challenge

    Directory of Open Access Journals (Sweden)

    Shah Maully

    2008-01-01

    Full Text Available Congenital long QT syndrome (LQTS is one of the most common cardiac channelopathies and is characterized by prolonged ventricular repolarization and life-threatening arrhythmias. The mortality is high among untreated patients. The identification of several LQTS genes has had a major impact on the management strategy for both patients and family members. An impressive genotype-phenotype correlation has been noted and genotype identification has enabled genotype specific therapies. Beta blockers continue to be the primary treatment for prevention of life threatening arrhythmias in the majority of patients. Other therapeutic options include pacemakers, implantable cardioverter defibrillators, left cardiac sympathetic denervation, sodium channel blocking medications and lifestyle modification.

  13. A Case Report of Gorlin-goltz Syndrome

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    Shima Nafarzadeh

    2016-04-01

    Full Text Available Nevoid basal cell carcinoma syndrome (Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in patched (PTCH, a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. Gorlin-goltz syndrome (GGS is characterised by the presence of multiple odontogenic keratocysts in the jaws, basal cell carcinomas, palmar and plantar pits and intracranial calcifications. Here, we present a case of familial GGS, characterised by multiple odontogenic keratocysts, broad nasal ridge, hypertelorism, enlarged head circumference and dermoid cysts.

  14. PFEIFFER TYPE I SYNDROME: A GENETICALLY PROVEN CASE REPORT

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    Sh. Salehpour

    2008-10-01

    Full Text Available ObjectivePfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population. At the best of our knowledge this is the first genetically proven case report from Iran. The authors report with a review of literature, the case of a infant with Pfeiffer syndrome, manifested by Lacunar skull, ventriculomegaly, bicoronal craniosynostosis,frontal bossing, shallow orbits, parrot-like nose, umbilical hernia, broad and medially deviated great toes.Keywords: Acrocephalosyndactylia, Craniosynostoses, Broad and great toes, Pfeiffer, Syndrome

  15. Anaesthetic considerations of adults with Morquio's syndrome - a case report

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    Donnelly Maria B

    2010-02-01

    Full Text Available Abstract Background The anaesthetic management of patients with Morquio syndrome is complicated by a number of factors including odontoid hypoplasia, atlantoaxial instability, thoracic kyphosis, and deposition of mucopolysaccharides in the soft tissue of the oropharnyx. Case presentation Herein we describe the anaesthetic considerations and management of a 26 year old adult with Morquio syndrome, who presented for an elective hip replacement. Conclusion This report details an awake fiberoptic intubation in an adult with Morquio syndrome. We recommend that this approach be considered in patients with Morquio syndrome undergoing general anaesthesia.

  16. Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study.

    Science.gov (United States)

    Elia, M; Musumeci, S A; Ferri, R; Greco, D; Romano, C; Del Gracco, S; Stefanini, M C

    1996-11-01

    Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities. We studied in detail the neurological, EEG, and neuroradiological features of a group of 11 (6 male, 5 female) patients with Saethre-Chotzen syndrome. Four subjects were affected by seizures; they had paroxysmal EEG abnormalities, and gross neuroimaging revealed destructive brain lesions or malformations. Our findings suggest that CNS involvement in Saethre-Chotzen syndrome might be more severe than previously reported and support the wider use of neurophysiological and neuroimaging techniques in the study of children with this syndrome.

  17. Presenting A Case with Tubulointerstitial Nephritis and Uveitis (TINU- Syndrome

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    E Fotouhi Ardakani

    2008-10-01

    Full Text Available Concurrence of interstitial nephritis and uveitis named tubulointestitioal nephritis and uveitis syndrome (TINU are unusual and uncommon presentations of interstitial nephritis. This syndrome is considered after ruling out other differential diagnoses. A-38-year old man presented with acute renal failure and uveitis. The histologic findings of renal biopsy showed acute tubulointestitioal nephritis. The patient had no clinical and paraclinical manifestations of other etiologies of interstitial nephritis and uveitis such as Wegener's granulomatosis , Sjogren's syndrome or sarcoidosis. The diagnosis of TINU-Syndrome was therefore considered. The patient was treated by oral and ophthalmic prednisolone and had a good response to treatment.

  18. Acute renal failure: A rare presentation of Sheehan's syndrome.

    Science.gov (United States)

    Bhat, Manzoor A; Laway, Bashir A; Allaqaband, Faheem A; Kotwal, Suman K; Wani, Imtiyaz A; Banday, Khursheed A

    2012-03-01

    Sheehan's syndrome occurs as a result of ischemic pituitary necrosis secondary to severe postpartum bleeding. It is one of the most common causes of hypopituitarism, characterized by variable clinical presentation. Acute kidney injury occurs rarely in Sheehan's syndrome and most of the cases have been found to be precipitated by rhabdomyolysis. We here present a case of Sheehan's syndrome with acute kidney injury where theprecipitating cause was chronic hypocortisolemia. We believe this is the first reported case of Sheehan's syndrome in which acute kidney injury was precipitated by adrenal insufficiency.

  19. Duane Syndrome. Presentation of a case.

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    Pedra Palmero Aragón

    2010-04-01

    Full Text Available It was carried out an observational descriptive prospective longitudinal study including the period from march 2008 till june 20, 2008 in the Ophthalmology Service of the Provincial Educational Pediatric Hospital: “José Martí Pérez” in Sancti Spiritus, with the objective to identify the clinical and epidemiological characteristics of a patient with Duane Syndrome who went to consultation without receiving previous ophthalmological attention, the diagnosis age was determined, which was tardy, bracket the most affected eye and the kind of Duane, and also if there was any refractive defect and the presence of amblyopia , identifying the criteria for being operated, for collecting data a format was completed by the specialists, which included observation, interrogatory, ophthalmological medical record of the ill person and pictures, these elements allowed us to make a correct analysis. With the previous information we arrived as a conclusion that is all about a patient with 28 years of age who lives in Sancti Spiritus Municipality, with White skin, male, carried on the Duane Syndrome type I, unilateral left. A light Hypermetropia was presented in both eyes as a refractive defect, accompanied by a light bilateral amplyopia in the right eye and moderate in the left eye. It is necessary to stay that the patient was under surgical criterium by esotropia of more than 15 degrees in PPM and unacceptable torticollis although the time of evolution; there were no difficulties related to the surgical act. The postoperative picture can reflect the result of the surgery.

  20. Longitudinal Neuropsychological Profile in a Patient with Triple A Syndrome

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    Luigi Mazzone

    2013-01-01

    Full Text Available Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0 and after one year of follow-up (T1. Many difficulties were observed in the motor domain, as well as in manual dexterity and static/dynamic balance domains of the motor task over time. In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with Triple A syndrome, our child did not show any mental retardation. By contrast, he showed an average IQ at T0 with a slight improvement at T1. To our knowledge, this report is the first describing neuropsychological profile and co-occurring psychopathological problems in a child with Triple A syndrome. Considering that the Triple A syndrome is a progressive disorder which can take years to develop the full-blown clinical picture, these patients require periodical medical controls. Moreover, assessment of neuropsychological and psychopathological features should be performed in patients with this disease, in order to underline the variability of this syndrome.

  1. A Korean family with the Muenke syndrome.

    Science.gov (United States)

    Yu, Jae Eun; Park, Dong Ha; Yoon, Soo Han

    2010-07-01

    The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.

  2. Is fibromyalgia a distinct clinical syndrome?

    Science.gov (United States)

    Rau, C L; Russell, I J

    2000-01-01

    The validity of the fibromyalgia syndrome (FMS) as a distinct clinical entity has been challenged for several reasons. Many skeptics express concern about the subjective nature of chronic pain, the subjectivity of the tender point (TeP) examination, the lack of a gold standard laboratory test, and the absence of a clear pathogenic mechanism by which to define FMS. Another expressed concern has been the relative nature of the pain-distress relationship in the rheumatology clinic. The apparently continuous relationship between TePs and somatic distress across a variety of clinical disorders is said to argue against FMS as a separate clinical disorder. The most aggressive challenges of the FMS concept have been from legal defenses of insurance carriers motivated by economic concerns. Other forms of critique have presented as psychiatric dogma, uninformed posturing, suspicion of malingering, ignorance of nociceptive physiology, and occasionally have resulted from honest misunderstanding. It is not likely that a few paragraphs of data and logic will cause an unbeliever to change an ingrained opinion. Therefore, this review describes the clinical manifestations of FMS, responds to some of the theoretic arguments against it, and discusses some possible pathophysiologic mechanisms by which FMS may develop and persist as a unique syndrome.

  3. A study on multiple drowning syndromes.

    Science.gov (United States)

    Turgut, Adnan

    2012-01-01

    Non-intentional drowning incidents remain a leading cause of mortality in Turkey as well as all over the world. A following related secondary syndrome is composed of those who drown during altruistic attempts to rescue a drowning person. Such 'rescuers' who attempt to rescue a drowning person, may themselves drown, resulting in a tragic multiple death. This study covers the year 2009, and necessary data was found by using internet search engines to identify cases in which a potential rescue attempt resulted with the rescuer's fatal drowning. Thirty-one 'rescuers' and 20 primary drowning victims (PDV) drowned in 28 incidents in which 80% of drowned primary victims (DPV) were children, and 48.4% of the 'rescuers' were children. In 48.4% of the 'rescuers' succeeded in rescuing the PDV's life. Out of them, 38.7% of the 'rescuers' and PDVs were friends/colleagues. The aim of this study is to define and examine multiple drowning syndromes (MDSs) and to suggest preventative measures. An increased awareness of such risks as promotion of swimming and rescue skills could help reducing the MDSs.

  4. Polycystic ovary syndrome: a transgenerational evolutionary adaptation.

    Science.gov (United States)

    Shaw, L M A; Elton, S

    2008-01-01

    Polycystic ovary syndrome has a common association with anovulatory infertility, while the physical symptoms are often associated with the increased androgens that are part of the endocrine profile. There is a well-recognised association with lipid and glucose metabolism anomalies and, when undergoing ovulation induction, ovarian hyperstimulation syndrome. This common condition is familial, but a contributory gene has yet to be found. The question of why a gene that predisposes to anovulation, diabetes and heart disease might have perpetuated so frequently is addressed. Three hypotheses for evolutionary advantage are discussed. The food deprivation hypothesis considers the role of the observed increase in ovulation when women with the condition lose weight in relation to seasonality. The refeeding hypothesis considers the androgenic and slightly enhanced anabolic metabolism in relation to periods of privation and the advantage of preferential early ovulation when refeeding after a period of privation. The transgenerational privation hypothesis considers the effect of persistent, severe, yet subfatal privation on individuals both in utero and throughout life. While an androgenic, anabolic state would improve efficiency in the use of food for protein synthesis and fat storage, benefiting the fetus both in relation to its in utero development and neonatal survival, survival and reproductive capacity as an adult benefits by a genotype expressing itself in women of successive generations.

  5. 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...

  6. 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...

  7. Gorlin-Goltz syndrome: A series of three cases.

    Science.gov (United States)

    Patankar, Amod P; Kshirsagar, Rajesh A; Dugal, Arun; Mishra, Akshay; Ram, Hari

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) is also known as nevoid basal cell carcinoma syndrome. It is characterized by multiple keratocystic odontogenic tumors (KCOTs) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. The syndrome may be diagnosed early by a dentist during the routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article reports the series of 3 cases, emphasizing its clinical and radiographic manifestations of GGS.

  8. Psychosis as a late manifestation of Sheehan's syndrome.

    Science.gov (United States)

    Reddy, Mukku Shiva Shanker; Nahar, Abhinav; Thippeswamy, Harish; Kumar, Chaturvedi Santosh

    2017-02-01

    Sheehan's syndrome occurs as a result of ischemic pituitary necrosis due to severe postpartum haemorrhage. It is one of the most common causes of hypopituitarism in underdeveloped or developing countries. Characteristic manifestations include failure to lactate or to resume menses, genital and axillary hair loss, asthenia and weakness, fine wrinkles around the eyes and lips, signs of premature aging, dry skin, hypopigmentation and other evidence of hypopituitarism. Uncommonly it can present with psychosis. There are only few case reports of psychoses in patients with Sheehan's syndrome. Our case report illustrates the relationship between psychosis and Sheehan's syndrome. The treatment challenges in managing Sheehan's syndrome and psychosis are discussed.

  9. Thenar hammer syndrome: a case report.

    Science.gov (United States)

    Youakim, Sami

    2006-10-01

    Raynaud's phenomenon occurs among automobile mechanics secondary to long-term use of vibrating hand-held tools. It can also occur from traumatic injury to the upper extremity. This report describes a case of single digit Raynaud's phenomenon in an automobile mechanic due to focal arterial impact trauma. A 38-year-old right-handed transmission mechanic complained of paraesthesia and blanching of the right index finger on exposure to cold and eventually developed a transient necrotic ulcer at the tip of the digit. He had a long history of occupational exposure to vibrating hand-held power tools. Evaluation for common causes of Raymond's phenomenon was negative. The diagnosis of hand-arm vibration syndrome (HAVS) was rejected because of the rapidity of progression and severity of the symptoms restricted only to the index finger without corresponding symptoms of the other digits of the right hand as would be expected. Angiography revealed an obstructive lesion of the distal right radial artery at the wrist and he was diagnosed with thenar hammer syndrome. This uncommon condition was due to focal injury of the distal radial artery caused by repeated slamming of transmission parts on a work table. Not all cases of Raynaud's phenomenon in workers using vibrating hand-held tools are due to HAVS. Alternative aetiologies should be considered especially if symptoms are asymmetrical and unilateral.

  10. A case of seronegative catastrophic antiphospholipid antibody syndrome.

    Science.gov (United States)

    Shreders, Amanda; Bar, Michael

    2013-02-01

    Catastrophic antiphospholipid antibody syndrome (CAPS) is a rare syndrome associated with multiorgan failure that carries a high mortality rate. It has been defined previously by the presence of autoantibodies in a patient with acute multiorgan failure as a result of small vessel occlusion by multiple thrombi. We report a patient who meets all criteria of CAPS except for persistent seronegativity.

  11. Hyperferritinemic syndrome: Still's disease and catastrophic antiphospholipid syndrome triggered by fulminant Chikungunya infection: a case report of two patients.

    Science.gov (United States)

    Betancur, Juan-Felipe; Navarro, Erika-Paola; Echeverry, Alex; Moncada, Pablo A; Cañas, Carlos A; Tobón, Gabriel J

    2015-11-01

    There are four medical conditions characterized by high levels of ferritin, the macrophage activation syndrome (MAS), adult onset Still' s disease (AOSD), catastrophic antiphospholipid syndrome (CAPS), and septic shock, that share similar clinical and laboratory features, suggesting a common pathogenic mechanism. This common syndrome entity is termed "the hyperferritinemic syndrome." Here, we describe two different cases of hyperferritinemic syndrome triggered by Chikungunya fever virus infection: a 21-year-old female with SLE and a 32-year-old male patient who developed AOSD after the coinfection of dengue and Chikungunya viruses.

  12. BRUGADA SYNDROME-A CASE REPORT

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    Kuževska-Maneva Konstandina

    2016-03-01

    Full Text Available Brugada syndrome is a type of arrhythmia disorder, which is characterised by abnormal electrocardiogram (ECG findings and an increased risk of sudden cardiac death. The most frequent sign is a persistent ST elevation in the electrocardiographic leads V1-V3 with a right bundle branch block (RBBB.We present a case of 12 years old healthy child, without any complains until then. He had 2 episodes of collapse/syncope, which lasted long and spontaneously disappeared. The collapses were provoked by physical activity. On ECG we found sinus rhythm 62 bpm, RBBB (right bundle brunch block and Brugada signs in V2 and V3 channel-ST elevation ≥ 2mm. The child was sent in electrophysiological centre abroad where the electrophysiological study was performed. They did not found any accessory pathway. The atrioventricular (AV conduction was normal. Long lasting polymorphic ventricular tachycardia/fibrillation was induced with programed stimulation with 3 extrastimuli in right ventricular outflow tract. Performing one defibrillation the rhythm turned in sinus way. Then they performed ECG with translocation of electrodes V1-3 in 2nd intercostal space and the Brugada I type findings was discovered. After confirming of presence of Brugada type -1 syndrome the implantable cardioverter- defibrillator (ICD was applied on child heart.

  13. SAPHO SyndromeA Pictorial Assay

    Science.gov (United States)

    Khanna, Lokesh; El-khoury, Georges Y.

    2012-01-01

    SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a distinct clinical entity representing involvement of the musculoskeletal and dermatologic systems. It is well known to rheumatologists because of characteristic skin manifestations and polyarthropathy. However, few reports exist in the orthopaedic literature. It is important to be aware of sAPHO syndrome as it can mimic some of the more common disease entities such as infection, tumor, and other inflammatory arthropathies. Anterior chest wall pain centered at sternoclavicular and sternocostal joints is an important and characteristic clinical finding which can point to its diagnosis. A patient may undergo different diagnostic tests and invasive procedures such as biopsies before a diagnosis is made. Imaging can be helpful by offering a detailed evaluation of the abnormalities. More importantly it helps in revealing subclinical foci of involvement due to the polyostotic nature of the disease. The treatment is mostly nonsurgical. NSAIDS are the first line agents. However multiple new agents are being used for refractory cases. Surgery is reserved to treat complications. PMID:23576940

  14. SAPHO syndrome--a pictorial assay.

    Science.gov (United States)

    Khanna, Lokesh; El-Khoury, Georges Y

    2012-01-01

    SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a distinct clinical entity representing involvement of the musculoskeletal and dermatologic systems. It is well known to rheumatologists because of characteristic skin manifestations and polyarthropathy. However, few reports exist in the orthopaedic literature. It is important to be aware of sAPHO syndrome as it can mimic some of the more common disease entities such as infection, tumor, and other inflammatory arthropathies. Anterior chest wall pain centered at sternoclavicular and sternocostal joints is an important and characteristic clinical finding which can point to its diagnosis. A patient may undergo different diagnostic tests and invasive procedures such as biopsies before a diagnosis is made. Imaging can be helpful by offering a detailed evaluation of the abnormalities. More importantly it helps in revealing subclinical foci of involvement due to the polyostotic nature of the disease. The treatment is mostly nonsurgical. NSAIDS are the first line agents. However multiple new agents are being used for refractory cases. Surgery is reserved to treat complications.

  15. Postural orthostatic tachycardia syndrome: a clinical review.

    Science.gov (United States)

    Johnson, Jonathan N; Mack, Kenneth J; Kuntz, Nancy L; Brands, Chad K; Porter, Coburn J; Fischer, Philip R

    2010-02-01

    Postural orthostatic tachycardia syndrome was defined in adult patients as an increase >30 beats per minute in heart rate of a symptomatic patient when moving from supine to upright position. Clinical signs may include postural tachycardia, headache, abdominal discomfort, dizziness/presyncope, nausea, and fatigue. The most common adolescent presentation involves teenagers within 1-3 years of their growth spurt who, after a period of inactivity from illness or injury, cannot return to normal activity levels because of symptoms induced by upright posture. Postural orthostatic tachycardia syndrome is complex and likely has numerous, concurrent pathophysiologic etiologies, presenting along a wide spectrum of potential symptoms. Nonpharmacologic treatment includes (1) increasing aerobic exercise, (2) lower-extremity strengthening, (3) increasing fluid/salt intake, (4) psychophysiologic training for management of pain/anxiety, and (5) family education. Pharmacologic treatment is recommended on a case-by-case basis, and can include beta-blocking agents to blunt orthostatic increases in heart rate, alpha-adrenergic agents to increase peripheral vascular resistance, mineralocorticoid agents to increase blood volume, and serotonin reuptake inhibitors. An interdisciplinary research approach may determine mechanistic root causes of symptoms, and is investigating novel management plans for affected patients.

  16. Mowat-Wilson syndrome: A case report

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    Čuturilo Goran

    2009-01-01

    Full Text Available Introduction. Mowat-Wilson syndrome (MWS is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprung's disease. Ganglionic disorders of the colon, both the number of ganglion cells and the length of the aganglionic segment vary significantly in these patients. The disease is caused by ZFHX1B gene mutation. The management of MWS is symptomatic. Case outline. We report a four-year old boy with mental retardation, specific facial dysmorphy and multiple anomalies. During prenatal follow-up intrauterine growth retardation was revealed. Karyotype was normal. Clinical findings showed that growth and mental retardation, gastrointestinal disturbance and heart defect were predominant. A gastrostoma was inserted. Hypoganglionosis of the colon caused severe obstipation. He had a severe stenosis of the pulmonary artery and was a candidate for cardiac surgery. There were several attempts to establish diagnosis, but so far, without results. Conclusion. Hirschsprung's disease/hypoganglionosis of the colon associated with other congenital anomalies or mental retardation require evaluation for dysmorphic syndromes. One of them is MWS, presented in this report.

  17. Myofascial Pain Syndrome: A Treatment Review

    OpenAIRE

    Desai, Mehul J.; Saini, Vikramjeet; Saini, Shawnjeet

    2013-01-01

    Myofascial pain syndrome (MPS) is defined as pain that originates from myofascial trigger points in skeletal muscle. It is prevalent in regional musculoskeletal pain syndromes, either alone or in combination with other pain generators. The appropriate evaluation and management of myofascial pain is an important part of musculoskeletal rehabilitation, and regional axial and limb pain syndromes. This article reviews the current hypotheses regarding the treatment modalities for myofascial trigge...

  18. Brugada syndrome in a patient with accessory pathway.

    Science.gov (United States)

    Bodegas, A I; Arana, J I; Vitoria, Y; Arriandiaga, J R; Barrenetxea, J I

    2002-01-01

    Brugada syndrome in a patient with Wolff-Parkinson-White syndrome. We report a 32-year-old man with orthodromic atrioventricular (AV) reciprocating tachycardia using a right posterior accessory pathway. However, his ECG showed ST segment elevation in leads V1 to V3. After successful radiofrequency ablation of his accessory pathway a cardioverter defibrillator was implanted.

  19. Laugier-hunziker syndrome in a patient with pancreatic cancer.

    Science.gov (United States)

    Wondratsch, Hannes; Feldmann, Robert; Steiner, Andreas; Breier, Friedrich

    2012-05-01

    Laugier-Hunziker syndrome is a rare acquired disorder characterized by macular hyperpigmentation of the oral and occasionally genital mucosa as well as longitudinal melanonychia. It is considered a benign condition without systemic manifestation or malignant potential. We report on a woman who concomitantly developed Laugier-Hunziker syndrome and a carcinoma of the pancreas.

  20. Laparoscopic lumbar hernia repair in a child with lumbocostovertebral syndrome.

    Science.gov (United States)

    Jones, Sarah L; Thomas, Iona; Hamill, James

    2010-02-01

    Lumbocostovertebral syndrome is the association of a congenital lumbar hernia with rib and vertebral anomalies. We report the first case of a laparoscopic repair of a lumbar hernia in a child with lumbocostovertebral syndrome. Laparoscopic lumbar hernia repair appears to be safe and feasible in children.

  1. Uncovering a Role for SK2 in Angelman Syndrome

    Directory of Open Access Journals (Sweden)

    Sofia B. Lizarraga

    2015-07-01

    Full Text Available Angelman syndrome is a severe neurodevelopmental disorder caused by mutations in UBE3A. Sun et al. (2015 report SK2 as a UBE3A substrate and provide insight into the molecular mechanisms that might underlie impaired neuronal function in individuals affected by Angelman syndrome.

  2. Metabolic syndrome: evidences for a personalized nutrition.

    Science.gov (United States)

    Perez-Martinez, Pablo; Garcia-Rios, Antonio; Delgado-Lista, Javier; Perez-Jimenez, Francisco; Lopez-Miranda, Jose

    2012-01-01

    Both insulin resistance and dyslipidaemia are determined by genetic and environmental factors. Depending on their expression and their function, gene variants may influence either insulin action or other metabolic traits. Nutrition also plays an important role in the development and progression of these conditions. Genetic background may interact with habitual dietary fat composition, affecting predisposition to insulin resistance syndrome and individual responsiveness to changes in dietary fat intake. In this context, nutrigenetics has emerged as a multidisciplinary field focusing on studying the interactions between nutritional and genetic factors and health outcomes. Due to the complex nature of gene-environment interactions, however, dietary therapy may require a "personalized" nutrition approach in the future. Although the results have not always been consistent, gene variants that affect primary insulin action, and particularly their interaction with the environment, are important modulators of glucose metabolism. The purpose of this review is to present some evidence of studies that have already demonstrated the significance of gene-nutrient interactions (adiponectin gene, Calpain-10, glucokinase regulatory protein, transcription factor 7-like 2, leptin receptor, scavenger receptor class B type I etc.) that influence insulin resistance in subjects with metabolic syndrome.

  3. Burning mouth syndrome: a review and update.

    Science.gov (United States)

    Silvestre, Francisco J; Silvestre-Rangil, Javier; López-Jornet, Pía

    2015-05-16

    Burning mouth syndrome (BMS) is mainly found in middle aged or elderly women and is characterized by intense burning or itching sensation of the tongue or other regions of the oral mucosa. It can be accompanied by xerostomia and dysgeusia. The syndrome generally manifests spontaneously, and the discomfort is typically of a continuous nature but increases in intensity during the evening and at night. Although BMS classically has been attributed to a range of factors, in recent years evidence has been obtained relating it peripheral (sensory C and/or trigeminal nerve fibers) or central neuropathic disturbances (involving the nigrostriatal dopaminergic system). The differential diagnosis requires the exclusion of oral mucosal lesions or blood test alterations that can produce burning mouth sensation. Patient management is based on the avoidance of causes of oral irritation and the provision of psychological support. Drug treatment for burning sensation in primary BMS of peripheral origin can consist of topical clonazepam, while central type BMS appears to improve with the use of antidepressants such as duloxetine, antiseizure drugs such as gabapentin, or amisulpride.

  4. The Down Syndrome Behavioural Phenotype: Taking a Developmental Approach

    Science.gov (United States)

    Fidler, Deborah; Most, David; Philofsky, Amy

    2009-01-01

    Individuals with Down syndrome are predisposed to show a specific behavioural phenotype, or a pattern of strengths and challenges in functioning across different domains of development. It is argued that a developmental approach to researching the Down syndrome behavioural phenotype, including an examination of the dynamic process of the unfolding…

  5. The Down Syndrome Behavioural Phenotype: Taking a Developmental Approach

    Science.gov (United States)

    Fidler, Deborah; Most, David; Philofsky, Amy

    2009-01-01

    Individuals with Down syndrome are predisposed to show a specific behavioural phenotype, or a pattern of strengths and challenges in functioning across different domains of development. It is argued that a developmental approach to researching the Down syndrome behavioural phenotype, including an examination of the dynamic process of the unfolding…

  6. TREACHER COLLINS SYNDROME - A RARE CONGENITAL DISOR DER

    Directory of Open Access Journals (Sweden)

    Richa

    2013-04-01

    Full Text Available ABSTRACT: Treacher Collins syndrome (TCS is a rare genetic d isorder characterized primarily by abnormalities in the development of the head and face. We report a case of 5 year old boy who presented with complaint of hearing impairment a nd malformed pinna and later diagnosed as case of treacher Collins syndrome

  7. Treacher-Collins Syndrome-A Challenge For Aaesthesiologists

    Directory of Open Access Journals (Sweden)

    Leena Goel

    2009-01-01

    Full Text Available Treacher-Collins syndrome is a rare congenital disease known to be associated with a difficult airway and presents some of the most hazardous and difficult challenges that anaesthetists may encounter within the entire practice of paediatric anesthesia. Successful anaesthetic management in a case of Treacher-Collins syndrome posted for cleft palate repair is presented in this report.

  8. Kindler Syndrome - A Case Report with Review of Literature

    Directory of Open Access Journals (Sweden)

    Antony John

    2007-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma 1 . More than 70 cases have been documented in dermatologic and pediatric journals with little emphasis on dental findings 2 . Here we report a 18 year old female patient with Kindler syndrome along with a review of literature.

  9. Nasal encephalocele in a child with Beckwith-Wiedemann syndrome

    NARCIS (Netherlands)

    Broekman, Marike L. D.; Hoving, Eelco W.; Kho, Kuan H.; Speleman, Lucienne; Sen Han, K.; Hanlo, Patrick W.

    2008-01-01

    Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by gigantism, macroglossia, exophthalmos, postpartum hypoglycemia, and multiple midline defects such as omphalocele. The authors describe, to the best of their knowledge, the first case of a child in whom BWS was diagnosed

  10. Rivaroxaban in patients with a recent acute coronary syndrome

    DEFF Research Database (Denmark)

    Mega, Jessica L; Braunwald, Eugene; Wiviott, Stephen D

    2012-01-01

    Acute coronary syndromes arise from coronary atherosclerosis with superimposed thrombosis. Since factor Xa plays a central role in thrombosis, the inhibition of factor Xa with low-dose rivaroxaban might improve cardiovascular outcomes in patients with a recent acute coronary syndrome....

  11. Rivaroxaban in patients with a recent acute coronary syndrome.

    NARCIS (Netherlands)

    Mega, J.L.; Braunwald, E.; Wiviott, S.D.; Bassand, J.P.; Bhatt, D.L.; Bode, C.; Burton, P.; Cohen, M.; Cook-Bruns, N.; Fox, K.A.; Goto, S.; Murphy, S.A.; Plotnikov, A.N.; Schneider, D.; Sun, X.; Verheugt, F.W.A.; Gibson, C.M.

    2012-01-01

    BACKGROUND: Acute coronary syndromes arise from coronary atherosclerosis with superimposed thrombosis. Since factor Xa plays a central role in thrombosis, the inhibition of factor Xa with low-dose rivaroxaban might improve cardiovascular outcomes in patients with a recent acute coronary syndrome. ME

  12. Systemic transthyretin amyloidosis in a patient with bent spine syndrome.

    Science.gov (United States)

    Rezania, Kourosh; Pytel, Peter; Smit, Laurel J; Mastrianni, James; Dina, Michelle A; Highsmith, W Edward; Dogan, Ahmet

    2013-06-01

    Wild-type and mutant transthyretin (TTR) are implicated in systemic amyloidosis (ATTR). Myopathy is a rare complication of ATTR amyloidosis, however no patient with bent spine syndrome secondary to ATTR amyloidosis has been reported so far. We present the first case of bent spine syndrome in a patient with wild-type ATTR amyloidosis who also had concomitant Alzheimer's disease.

  13. Kindler′s syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Neelam Suman

    2014-01-01

    Full Text Available Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.

  14. Drowning as a Cause of Death in Angelman Syndrome.

    Science.gov (United States)

    Ishmael, Holly A.; Begleiter, Michael L.; Butler, Merlin G.

    2002-01-01

    This study reports on a 9-year-old boy previously diagnosed with Angelman syndrome who died unexpectedly by drowning in a shallow backyard wading pool. The case illustrates the fascination with water by individuals with Angelman syndrome and highlights that this fascination may lead to death. The need for supervision is stressed. (Contains 5…

  15. The glucagonoma syndrome and necrolytic migratory erythema : A clinical review

    NARCIS (Netherlands)

    van Beek, André P.; de Haas, Ellen R.M.; van Vloten, Willem A.; Lips, Cees J.M.; Roijers, Janine F.M.; Canninga-van Dijk, Marijke R.

    2004-01-01

    The glucagonoma syndrome is a rare disease in which a typical skin disorder, necrolytic migratory erythema, is often one of the first presenting symptoms. Weight loss and diabetes mellitus are two other prevalent characteristics of this syndrome. Necrolytic migratory erythema belongs to the recently

  16. The glucagonoma syndrome and necrolytic migratory erythema: A clinical review

    NARCIS (Netherlands)

    van Beek, André P.; de Haas, Ellen R.M.; van Vloten, Willem A.; Lips, Cees J.M.; Roijers, Janine F.M.; Canninga-van Dijk, Marijke R.

    2004-01-01

    The glucagonoma syndrome is a rare disease in which a typical skin disorder, necrolytic migratory erythema, is often one of the first presenting symptoms. Weight loss and diabetes mellitus are two other prevalent characteristics of this syndrome. Necrolytic migratory erythema belongs to the recently

  17. Intellectual development in Noonan syndrome: a longitudinal study

    NARCIS (Netherlands)

    Roelofs, R.L.; Janssen, N.; Wingbermuhle, E.; Kessels, R.P.C.; Egger, J.I.

    2016-01-01

    INTRODUCTION: Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory, a

  18. Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

    NARCIS (Netherlands)

    Shabo, G.; Scheffer, H.; Cruysberg, J.R.M.; Lammens, M.M.Y.; Pasman, J.W.; Spruit, M.; Willemsen, M.A.A.P.

    2005-01-01

    Congenital cataracts facial dysmorphism neuropathy syndrome is a recently delineated autosomal recessive condition exclusively found in the Gypsy population. Congenital cataracts facial dysmorphism neuropathy syndrome is caused by a homozygous mutation in the CTDP1 gene, leading to disruption of the

  19. Intellectual development in Noonan syndrome: a longitudinal study

    NARCIS (Netherlands)

    Roelofs, R.L.; Janssen, N.; Wingbermuhle, E.; Kessels, R.P.C.; Egger, J.I.

    2016-01-01

    INTRODUCTION: Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory, a

  20. Happle-tinschert syndrome: Report of a case with hemimegalencephaly

    Energy Technology Data Exchange (ETDEWEB)

    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.