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Sample records for syndrome a case

  1. Hepatopulmonary syndrome: a case report

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    Huurnink, Arnold

    2015-01-01

    Huurnink A, Van den Berg CHSB, Booij J. Hepatopulmonary syndrome: a case report. Hepatopulmonary syndrome is characterised by a lowered oxygenation caused by intrapulmonary vascular dilatation in the setting of a liver disease. We present a case of a 42-year old woman with a Budd-Chiari syndrome,

  2. Apert Syndrome: A Case Report

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    Masoud Gharib

    2012-10-01

    Full Text Available Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. it's incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parent's quality of life.We report a case of Apert syndrome and his occupational therapy program.

  3. Bertolotti's syndrome: a case report.

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    Mitra, Raj; Carlisle, Mark

    2009-01-01

    A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

  4. 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.

  5. A CASE OF METABOLIC SYNDROME

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    Khoo Ee Ming; Rabia Khatoon

    2006-01-01

    This case report illustrates a 40-year-old woman who presented with chest discomfort that was subsequently diagnosed to have metabolic syndrome. Metabolic syndrome is a common condition associated with increased cardiovascular morbidity and mortality. As primary care providers, we should be detect this condition early, intervene and prevent appropriately before complications occur.

  6. A Case of Pasqualini Syndrome

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    P.M. Liashuk

    2016-05-01

    Full Text Available The article presents a case of isolated congenital deficiency of luteinizing hormone (Pasqualini syndrome that manifested by secondary hypogonadism with abnormalities of copulative and fertile functions, which were normalized after the treatment using chorionic gonadotropin.

  7. [Usher syndrome: about a case].

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    Daoudi, Chama; Boutimzine, Noureddine; Haouzi, Samia El; Lezrek, Omar; Tachfouti, Samira; Lezrek, Mounir; Laghmari, Mina; Daoudi, Rajae

    2017-01-01

    Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

  8. Waardenburg syndrome: A rare case

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    Shivlal M Rawlani

    2018-01-01

    Full Text Available Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

  9. Mills’ syndrome: a case report

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    Fábio Henrique de Gobbi Porto

    2009-11-01

    Full Text Available The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical examination only. We can find this clinical presentation (Mills syndrome in cases of amyotrophic lateral sclerosis (ALS, predominant upper motor neuron amyotrophic lateral sclerosis (UMN-ALS and primary lateral sclerosis (PLS, besides its symptomatic (secondary forms. We describe a case (initial presentation and one year follow-up of progressive ascending hemiplegia with clinical isolated upper neuron signs and normal sensory examination, discussing its nosological status, electromyographic findings, differential diagnosis and prognosis.

  10. [Jerusalem syndrome - a case report].

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    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.

  11. Stylocarotid syndrome: A case report

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    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. Dress Syndrome - A Case Report

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    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.

  13. CROUZON SYNDROME: A CASE REPORT

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    Debdas

    2015-07-01

    Full Text Available Crouzon’s Syndrome is a rare autosomal dominant disorder. Normally, the sutures in the human skull fuse after the complete growth of the brain. But, if any of these sutures closes early then it may interfere with the growth of the brain. Premature sutural fusion most commonly involves sagittal suture followed by coronal suture. We report a case of 6 - year - old male child presented with characteristic features of Crouzon’s syndrome. Diagnosis was made on the basis of clinical and radiological findings.

  14. 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.

  15. A case of Boerhaave syndrome

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    Lee, Yong Zoon; Ra, Woo Youn; Woo, Won Hyung [Hankang Sacred heart Hospital, Chung Ang University School of Medicine, Seoul (Korea, Republic of)

    1974-10-15

    Esophageal rupture may occur from an external force such as an explosion or trauma to the chest, spontaneously as from vomiting, by instrumental perforations during endoscopy, or by foreign bodies. A case of Boerhaave syndrome was seen in a healthy 52 years old man who complained of substernal pain, vomiting and dyspnea after over-drinking. Abnormalities seen on the chest film were; A) hydropneumothorax B) mediastinal emphysema and C) subcutaneous emphysema. These characteristic roentgen findings were confirmed an esophageal rupture.

  16. 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.

  17. A Case of Wolfram Syndrome

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    Gholamali Naderian

    2010-01-01

    Full Text Available Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundus examination. The patient also had diabetes insipidus, neurosensory deafness, neurogenic bladder, polyuria and extra-residual voiding indicating atony of the urinary tract, combined with delayed sexual maturity. Conclusion: One should consider Wolfram syndrome in patients with juvenile onset diabetes mellitus and hearing loss. Ophthalmological examination may disclose optic atrophy; urologic examinations are vital in such patients.

  18. Bartter's syndrome: A case report of nephrocalcinosis

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    KOŞAN, Celalettin

    2014-01-01

    Bartter's syndrome is characterized by generalized hyperplasia of juxtaglomerular apparatus, hyperreninism leading to secondary hyperaldesteronism, hypokalemic alkalosis and normal blood pressure. Although nephrocalcinosis has been described sporadically in patients with Barter's syndrome, this is still generally unrecognized. We reported a case of Barter's syndrome with nephrocalcinosis and discussed clinical significance of nephrocalcinosis in this syndrome.

  19. Noonan syndrome: A case report

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    Asokan S

    2007-09-01

    Full Text Available Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1000-2500 children. This is a case report of a 13 year-old girl who was referred by a general dental practitioner to a pediatric dentist for management. Full mouth dental rehabilitation was done and the child was brought to a dental institution for correction of orofacial and occlusal defects. Multidisciplinary treatment is the key to success in managing children with Noonan syndrome and the pediatric dentists play an important position to lead the health team.

  20. Lemierre syndrome: a case report

    International Nuclear Information System (INIS)

    Bae, Young A; Lee, In Jae; Kim, Hyun Beom; Hong, Myung Sun; Lee, Kwan Seop; Lee, Yul; Bae, Sang Hoon

    2006-01-01

    Lemierre syndrome is a rare disease characterized by internal jugular vein thrombosis and septic emboli, and it primarily occurs in healthy young individuals; this disease usually follows an acute oropharyngeal infection. To the best of our knowledge, only a few reports about this disease have appeared in the radiologic literature. We report here the radiologic findings of a case of Lemierre syndrome in a young healthy female adolescent who had a history of acute pharyngotonsilitis. Chest radiographs showed lung nodules that displayed cavitary changes with rapid progression on the serial studies. High-resolution CT scan showed multi-focal patchy consolidations that connect with vessels, and this was suggestive of septic pulmonary embolism. Ultrasonography and CT scan of the neck revealed right internal jugular vein thrombosis

  1. Waardenburg Syndrome: A Case Report

    OpenAIRE

    Hayrullah Alp; Esma Alp

    2010-01-01

    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 ea...

  2. Poland's Syndrome: A Case Report

    African Journals Online (AJOL)

    jen

    The Poland's anomaly was first described in 1841 by Sir Alfred Poland as a syndrome presenting with absence or underdevelopment of pectoralis ... He was the second child in a family of four. There was no familial history of similar .... hypoplasia: a middle degree of Poland syndrome. Acta Radiologica 1996; 37: 759-762. 8.

  3. A case of Cronkhite-Canada syndrome

    International Nuclear Information System (INIS)

    Hirohama, Shigeo; Soedjaro; Machida, Takashi

    1985-01-01

    A 75-year-old woman with Cronkhite-Canada syndrome underwent computed tomography (CT) and ultrasonography (US). CT and US provided useful information on pathologic conditions, including edema of the digestive mucosa, which characterize this syndrome. Clinical analysis of this syndrome in 77 Japanese cases reported in the literature was presented. (Namekawa, K.)

  4. Neuroleptic malignant syndrome (a case report.

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    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.

  5. [Scimitar syndrome: a case series].

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    Jaramillo González, Carlos; Karam Bechara, José; Sáenz Gómez, Jessica; Siegert Olivares, Augusto; Jamaica Balderas, Lourdes

    Scimitar syndrome is a rare and complex congenital anomaly of the lung with multiple variables and is named for its resemblance to the classical radiological crooked sword. Its defining feature is the anomalous pulmonary drainage. It is associated with various cardiothoracic malformations and a wide spectrum of clinical manifestations. Nine patients diagnosed with scimitar syndrome found in the database of Hospital Infantil de México between 2009 and 2013 were reviewed. Demographic records, clinical status and hemodynamic parameters reported were collected. This case series called attention to certain differences between our group of patients and those reported in the international literature. Patients were predominantly female and were diagnosed between 1 and 20 months of life. All were asymptomatic at the time of the study. Half of the patients had a history of respiratory disease and all patients had with pulmonary hypertension. Surgical management was required in on-third of the patient group. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  6. Kawasaki syndrome: a case report.

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    Blakeley, S L; Cohen, P R

    1993-08-01

    A four-year-old black boy with Kawasaki syndrome is reported. The child was treated with intravenous gamma globulin and aspirin. He had no disease-associated adverse sequelae. The clinical findings, diagnostic criteria, and treatment of Kawasaki syndrome are reviewed.

  7. Serotonin Syndrome: A Case Report

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    Pedro Oliveira

    2018-01-01

    Full Text Available Serotonin Syndrome (SS is a potentially fatal iatrogenic condition that occurs as a result of an over-stimulation of the serotonergic receptors. Its typical presentation consists of the triad altered mental status, autonomic hyperactivity and neuromuscular alterations, although the clinical condition is highly variable. Despite being potentially treatable, many cases per year are underdiagnosed, a fact that has been mainly attributed to the lack of knowledge of this condition by the physicians. SS treatment relies on four pillars: removal of the precipitating agent and supportive therapy, antagonism of 5-HT2A receptors, and control of agitation, autonomic instability and hyperthermia. It is expected that its incidence will accompany the growth of the prescription of antidepressants, andincreasing physician’s awareness about its occurrence, could contribute to a timely diagnosis and to the success of the treatment. We present a clinical case of a patient diagnosed with Bipolar Affective Disorder, hospitalized for a depressive episode with a psychotic component, which developed a SS compatible condition. Based on this case report the authors undertake a theoretical review of this condition.

  8. Seckel syndrome: a report of a case.

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    Ramalingam, K; Kaliyamurthy, S D; Govindarajan, M; Swathi, S

    2012-01-01

    Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

  9. Seckel syndrome: A report of a case

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    K Ramalingam

    2012-01-01

    Full Text Available Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000, genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia, and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

  10. Bruck syndrome: a case report

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    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.

  11. 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.

  12. A Case with Cowden Syndrome

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    Nehir Parlak

    2015-06-01

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

  13. Noonan Syndrome and Stroke: A Case Report

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    Ebru Nur Mıhçı

    2012-03-01

    Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance

  14. Noonan Syndrome and Stroke: A Case Report

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    Ebru Nur Mıhçı

    2012-03-01

    Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance.

  15. Benedikt's Syndrome: A Rare Case Report

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    Aslı Aksoy Gundogdu

    2017-08-01

    Full Text Available Benedikt syndrome is a rare midbrain syndrome which is associated with the damage of the median mesencephalic tegmentum. The most common etiology of this syndrome is ischemic stroke. The occlusion of the posterior cerebral artery or the paramedian branches of the basilar artery results with the ischemia of this midbrain territory. Ipsilateral occulomotor cranial nerve palsy, contralateral hemiparesis, hemihypoesthesia, hemiataxia and korea or tremor are the clinical symptoms of this syndrome. In this article, we reported a case of Benedikt syndrome with an etiologic cause of cardioembolic stroke, who was diagnosed by the neurological examination and neuroradiological findings.

  16. Meckel Gruber Syndrome: A Case Report

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    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.

  17. Waardenburg syndrome: A report of three cases

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    Ghosh Sudip

    2010-01-01

    Full Text Available Waardenburg syndrome (WS is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.

  18. Gorlin-Goltz syndrome: A rare case

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    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.

  19. Gorlin-goltz syndrome: a rare case.

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    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.

  20. Gorlin-Goltz Syndrome: A Rare Case

    OpenAIRE

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

    2015-01-01

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

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

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    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.

  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. Adult polysplenia syndrome. A case report

    International Nuclear Information System (INIS)

    Usamentiaga, E.; Garcia-Valtuille, R.; Abascal, F.; Artiz, A.

    1997-01-01

    Polysplenia syndrome is a rare combination of congenital anomalies. It includes in a variable range: abdominal heterotaxy with multiples splenic nodules on the right side, cardiopulmonary anomalies and incomplete development of the inferior vena cava. We present the findings of a case of polysplenia syndrome performed by CT in an Adult asyntomatic patient. 11 refs

  4. Hermansky-Pudlak syndrome; a Case Report

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    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.

  5. Churg-strauss syndrome: a case report.

    Science.gov (United States)

    Zhdan, Vyacheslav М; Kitura, Yevdokiia М; Kitura, Oksana Ye; Babanina, Maryna Yu; Tkachenko, Maksym V; Lebid, Volodymyr G

    A clinical case of Churg-Strauss syndrome has been reported on the 53-year-old female patient Ts. with bronchial asthma and allergic rhinitis. The main clinical signs and syndromes depending on the stage of the disease are presented, as well as therapeutic treatment of patients with this disease.

  6. A fatal case of Perthes syndrome

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    Jérôme Jobé

    2013-01-01

    Full Text Available Perthes syndrome, or traumatic asphyxia, is a clinical syndrome associating cervicofacial cyanosis with cutaneous petechial haemorrhages and subconjonctival bleeding resulting from severe sudden compressive chest trauma. Deep inspiration and a Valsalva maneuver just prior to rapid and severe chest compression, are responsible for the development of this syndrome. Current treatment is symptomatic: urgent relief of chest compression and cardiopulmonary resuscitation if needed. Outcome may be satisfactory depending on the duration and severity of compression. Prolonged thoracic compression may sometimes lead to cerebral anoxia, irreversible neurologic damage and death. We report a fatal case of Perthes syndrome resulting from an industrial accident.

  7. Antiphospholipid syndrome: A case study

    International Nuclear Information System (INIS)

    Davies, T.

    1998-01-01

    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 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

  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. [Antisynthetase syndrome - a case report].

    Science.gov (United States)

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

    2013-01-01

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

  10. 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.

  11. Heerfordt Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    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

  12. Lemierre syndrome: two cases and a review.

    Science.gov (United States)

    Syed, Mohammed Iqbal; Baring, David; Addidle, Michael; Murray, Craig; Adams, Calum

    2007-09-01

    Lemierre syndrome is usually caused by an acute oropharyngeal infection in previously healthy young adults, resulting in thrombophlebitis of the internal jugular vein, leading to metastatic septic embolization and bacteraemia. The usual organism is Fusobacterium necrophorum. Lemierre syndrome, not so long ago labeled as the "forgotten disease," is on the rise. Today with increasing antibiotic-resistant organisms, and decreasing awareness of the syndrome, subsequent re-emergence of this "forgotten disease" is becoming more common in clinical settings. Lemierre syndrome has significant morbidity. Cranial nerve complications associated with the condition have been increasingly diagnosed in the last few years. Looking back at literature on Lemierre syndrome, there have been review articles in medical and microbiology journals but rarely in otolaryngology journals. By presenting our cases we demonstrate the diverse presentations and severity of the illness. A review of the literature and a case report on two cases seen in our institution in the last year are presented. Each of these had varied presentations and neurologic complications-one developed 9th to 12th cranial nerve palsies and Horner syndrome, which have not been described in previous literature, and the other developed polyneuropathy and a frontal lobe infarct among other multisystem complications. Diagnosis of Lemierre syndrome is not always straightforward as clinical features are variable and blood cultures are often negative. Awareness of the syndrome and a high degree of suspicion are needed.

  13. A case of subwakefulness syndrome.

    Science.gov (United States)

    Hisanaga, A; Tsutsumi, M; Yasui, S; Fukuda, H; Tachibana, H; Hagino, H; Okabe, A; Mita, T; Saitoh, O; Kurachi, M

    1998-04-01

    We report a patient, a 30-year-old male Japanese-Brazilian migrant construction worker, suffering from excessive daytime sleepiness for at least 6 months. Electroencephalogram recordings during his waking states showed that 10-Hz and 60-microV alpha activity was present prominently in the occipital regions. From the multiple sleep latency test, it was found that stages 1-2 NREM sleep episodes appeared repetitively without any REM episodes, and that the mean sleep latency was 10.2 min. These findings support the diagnosis that this patient suffers from subwakefulness syndrome.

  14. Caudal regression syndrome : a case report

    International Nuclear Information System (INIS)

    Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun

    1998-01-01

    Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging

  15. Caudal regression syndrome : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun [Chungang Gil Hospital, Incheon (Korea, Republic of)

    1998-07-01

    Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging.

  16. A case of Tricorhinophalangeal syndrome

    Directory of Open Access Journals (Sweden)

    Hatice Erdi Şanlı

    2014-09-01

    Full Text Available Trichorhinophalangeal syndrome (TRPS is a rare autosomal dominant disorder characterized by craniofacial and various skeletal abnormalities. TRPS type 1 differs from type 2 by the absence of mental retardation and exocytosis and from type 3 by the absence of shortening in generalized phalanges, metacarpals and metatarsals. Systemic symptoms, such as renal and cardiac defects, growth retardation and mental retardation may accompany TRFS. Herein, we present a 10-year-old girl who was diagnosed with TRPS type 1 accompanied by sparse, weak and slow-growing hair since birth, thinning of the lateral portion of the eyebrows, long philtrum, pear-shaped nose with a typical triangular facial appearance, camptodactyly of the finger joints, in radiological evaluation, cone-shaped epiphyses in hands and feet phalanges, and malocclusion. The patient was with normal cytogenetic, no deletion of 8q24 was detected.

  17. 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.

  18. 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.

  19. Hoffmann's syndrome: a case report

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    Ibrahim, Mohammad

    2005-07-01

    Full Text Available This syndrome is characterized by the presence of hypothyroidism with myxoedema, muscle stiffness and pseudo hypertrophy. We describe the disorder in a 21 year old male, who got admitted with complaints of generalized weakness, cold intolerance, constipation, and hoarse voice, difficulty in walking and progressive enlargement of muscles of thighs and back with crampy pains for two years. Examination revealed mild mental retardation, enlarged tongue, dry and rough skin, enlargement of thighs and back muscles, motor weakness in flexors of hips and knees with delayed relaxation of deep tendon reflexes. Investigations revealed evidence of hypothyroidism with marked elevation of muscle enzymes. Following institution of replacement therapy with thyroxine, the patient showed marked clinical and biochemical improvements after six months, but insignificant decrease in muscle mass. In this report we review relevant literature.

  20. Tropical diabetic hand syndrome: a case report.

    Science.gov (United States)

    Yeika, Eugene Vernyuy; Tchoumi Tantchou, Jacques Cabral; Foryoung, Joyce Bei; Tolefac, Paul Nkemtendong; Efie, Derrick Tembi; Choukem, Siméon Pierre

    2017-02-13

    Tropical diabetic hand syndrome describes a complex hand sepsis affecting patients with diabetes across the tropics and often results from a trivial hand trauma. The clinical presentation of this syndrome is variable and ranges from localised swelling and cellulitis, with or without ulceration of the hand to progressive fulminant hand sepsis, and gangrene affecting the entire limb which may be fatal. Tropical diabetic hand syndrome could lead to permanent disability and death as a result of delay in presentation, late diagnosis and late medical and surgical intervention. This indexed case acts as an eye opener for physicians to the existence of this hand sepsis. We report the case of a 57 year-old black African female diabetic who was referred to our centre for the management of a suppurating ulcer and swelling of the left hand of two weeks duration. On examination and work-up, the patient was found to have Lawal Group III left diabetic hand syndrome and was managed with parenteral antibiotics, radical debridement and the hand was eventually amputated. She died 7 days following amputation from overwhelming sepsis. Though tropical diabetic hand syndrome is a relatively rare complication of diabetes, it can be fatal as in this case report. Early diagnosis and proper management would yield better outcome. Initial management should include aggressive intravenous broad-spectrum antibiotics with anaerobic coverage. Classification of tropical diabetic hand syndrome will assist physicians and surgeons in decision making, proper management and easy communication.

  1. Kleine–Levin Syndrome: A case report

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    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.

  2. A Case of Male Goltz Syndrome

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    Bhaswati Ghoshal

    2012-01-01

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

  3. 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.

  4. 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.

  5. A Case with Cramp-Fasciculation Syndrome

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    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.

  6. A case Report of Wolfram Syndrome

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    Zahra Razavi

    2007-01-01

    Full Text Available Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness. It is a rare autosomal recessive disease with prevalence of one per 770,000. Natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive neurodegenerative disorder. Juvenile–onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome. In this report clinical features of a patient with DIDMOAD syndrome is presented. A 12 year old male presented with short standing diabetes mellitus and diabetes insipidus. Further investigations showed bilateral optic atrophy, mild hearing loss and short stature. His parents were relative and he is first case in his family.

  7. Autoerythrocyte Sensitization Syndrome: A Case Report

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    Pinar Ozuguz

    2014-04-01

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

  8. [Fournier syndrome: report of a clinical case].

    Science.gov (United States)

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

    2001-01-01

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

  9. 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.

  10. Sjogren’s syndrome: a case report

    Science.gov (United States)

    Sunata, A.; Marpaung, B.

    2018-03-01

    The incidence of Sjogren’s Syndrome was estimated 4 in 100.000 of these cases with the prevalence is 0.2% to 2.7% of the population. Predominant sex female/male ratio is approximately 10:1 with peak incidence is in the fourth and fifth decade. A 29-year-old woman had dry eyes and recurrent sensation of sand in the eyes for two years. Schimmer’s test was positive ≤5mm in 5 minutes both, and the autoantibodies SSA and SSB were positive. Without history head or neck radiation and the result of laboratory examination hepatitis C and HIV negative. Until now there is no satisfying therapy for Sjogren Syndrome, only supportive specific to symptomatic can be treated. We reported a case of Sjogren Syndrome with dry eyes symptom, polyathralgia, and fatigue. Muscarinic agonist pilocarpine 5mg PO qid and hydroxychloroquine were given.

  11. 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

  12. Dyke Davidoff Masson Syndrome: A case report

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    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.

  13. 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.

  14. Laugier-Hunziker syndrome: A case report.

    Science.gov (United States)

    Wei, Z; Li, G-Y; Ruan, H-H; Zhang, L; Wang, W-M; Wang, X

    2018-04-01

    Laugier-Hunziker syndrome (LHS) is a rare, benign, acquired pigmentary condition mainly affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. Herein, we reported a 45-year-old female case with LHS. The clinical, dermoscopic, histopathologic features of LHS were reviewed and the important differential diagnosis was discussed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  15. Treating a case of Savant syndrome

    OpenAIRE

    Busuttil, Joseph

    1994-01-01

    Memory and artistic prodigies among the population at large are uncommon; among the mentally retarded, they are rarer still. This article describes the treatment of such a case, technically known as the Savant Syndrome, seen by occupational therapists at Mount Carmel Psychiatric Hospital and treated over a period of 18 years.

  16. A rare case of Charlin's syndrome

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    Mohit P Singh

    2017-01-01

    Full Text Available Charlin's syndrome is an extremely rare condition characterized by pain in the nasal and paranasal areas, which is precipitated by touching the lateral aspect of the ipsilateral nostril. We are presenting one such case of a 42-year-old man who was admitted to Dr. Chaudhary Hospital and Medical Research Centre.

  17. [Anticonvulsant Hypersensitivity Syndrome: A Case Report].

    Science.gov (United States)

    Valderrama Escudero, Felipe; Montoya González, Laura Elisa

    2014-01-01

    DRESS syndrome (skin reaction with eosinophilia and systemic symptoms) is an idiosyncratic drug reaction characterized by rash, fever, lymphadenopathy, and internal organ dysfunction. This case report is on a patient with bipolar affective disorder who presented with a systemic inflammatory response associated with the use of valproic acid, and an important activation of symptoms when used with other drugs with a different pharmacological action mechanism. The diagnosis of DRESS syndrome is primarily by exclusion, and its detection may be difficult, which could potentially become fatal for the patient. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  18. Ambras syndrome: A rare case report

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    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. Peutz-Jehgers syndrome (A case report)

    International Nuclear Information System (INIS)

    Kim, Byoung Geun; Park, Heung Il; Kwun, Chung Sik

    1974-01-01

    This is a report of rare case of Peutz-Jehgers syndrome in a 13 years old boys with chief complaints of melena and intermittent abdominal pain since 3 years of age. He has multiple small melanin pigmentations in the face, lower lip, and left buccal mucosa and numerous small and large polyps in the stomach, jejunum, ileum, colon, and rectum by roentgenologic studies. Hereditary features, mucocutaneous pigmentations, clinical manifestations, pathologic features, roentgen features, and differential diagnosis, and treatment of Peutz-Jehgers syndrome are discussed with a review of the literature

  20. Peutz-Jehgers syndrome (A case report)

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Byoung Geun; Park, Heung Il; Kwun, Chung Sik [Chonnam University School of Medicine, Kwangju (Korea, Republic of)

    1974-10-15

    This is a report of rare case of Peutz-Jehgers syndrome in a 13 years old boys with chief complaints of melena and intermittent abdominal pain since 3 years of age. He has multiple small melanin pigmentations in the face, lower lip, and left buccal mucosa and numerous small and large polyps in the stomach, jejunum, ileum, colon, and rectum by roentgenologic studies. Hereditary features, mucocutaneous pigmentations, clinical manifestations, pathologic features, roentgen features, and differential diagnosis, and treatment of Peutz-Jehgers syndrome are discussed with a review of the literature.

  1. 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.

  2. Seckel syndrome: A rare case report

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    Rinky Sisodia

    2014-01-01

    Full Text Available Seckel syndrome (SS is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor psychomotor development. This case report presents an 8-year-old child with SS born to parents, exposed in Bhopal gas disaster.

  3. A case of Swyer-James syndrome

    International Nuclear Information System (INIS)

    Suzuki, Toshimitsu; Ohtani, Naoshi; Kimura, Sohichi; Izuchi, Rokuro; Iio, Masaaki; Fujinami, Kenji.

    1982-01-01

    Infantile infections are thought to constitute one of the main bases of the etiology of Swyer-James syndrome. This case seems to support the above theory allowing for the anamnesis of the pleuritis at 2 years of age, bronchographical findings - bilateral but markedly left-sided bud-like bronchiectatic changes - and left pulmonary angiographical findings - simultaneous appearance of pulmonary arteries and veins with scarce capillary image. Concerning the ventilation of this syndrome, 133 Xe inhalation test showed a ''Pendelluft'' phenomenon, shift of 133 Xe from the healthy to the affected lung on forced expiration. (author)

  4. 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.

  5. Scoliosis in Steinert syndrome: a case report.

    Science.gov (United States)

    Themistocleous, George S; Sapkas, George S; Papagelopoulos, Panayiotis J; Stilianessi, Eugenia V; Papadopoulos, Elias Ch; Apostolou, Constantinos D

    2005-01-01

    Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome. We present a patient with Steinert syndrome complicated by scoliosis. In the literature on muscular dystrophy, other than Duchenne, little mention is given to the problem of scoliosis in general and its treatment in particular. A case report of a patient with Steinert syndrome associated with thoracic scoliosis and hypokyphosis is presented. A 17-year-old boy presented with King type II right thoracic scoliosis (T5-T11, Cobb angle of 40 degrees) and hypokyphosis--10 degrees. He was treated with posterior stabilization and instrumentation at level T3-L2 with a postoperative correction of the scoliotic curve to 20 degrees. Histopathologic examination of the muscles confirmed the diagnosis of Steinert myotonic dystrophy. At 30-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. Scoliosis in Steinert syndrome shares the characteristic of an arthrogrypotic neuromuscular curve and demands the extensive soft tissue release for optimal surgical correction. Intraoperative observations included profound tissue bleeding, abnormally tough soft tissues and a difficult recovery from anaesthesia.

  6. Seckel syndrome: A report of a case

    OpenAIRE

    K Ramalingam; S D Kaliyamurthy; M Govindarajan; S Swathi

    2012-01-01

    Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limit...

  7. Exploding Head Syndrome: A Case Report

    OpenAIRE

    Ganguly, Gautam; Mridha, Banshari; Khan, Asif; Rison, Richard Alan

    2013-01-01

    Introduction: Exploding head syndrome (EHS) is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. Case Presentation: A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These ev...

  8. 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.

  9. 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.

  10. Hermansky-Pudlak Syndrome: A Case Report

    Science.gov (United States)

    Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Gul, Mehmet; Bentli, Recep

    2014-01-01

    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. PMID:24707413

  11. 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

  12. A case of peeling skin syndrome

    OpenAIRE

    Anil K Singhal; Devendra K Yadav; Bajrang Soni; Savita Arya

    2017-01-01

    Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Etiology is still unknown with an autosomal recessive inheritance. Less than 100 cases have been reported in the medical literature. We present a 32-year-old man having asymptomatic peeling of skin since birth. Sheets of skin were peeling from his neck, trunk, and extremities, following friction or rubbing especially if pre-soaked in water but sparin...

  13. Ekiri syndrome: a report of 13 cases

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    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.

  14. Moebius syndrome and narcolepsy: A case dissertation

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    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.

  15. A case of peeling skin syndrome

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    Anil K Singhal

    2017-01-01

    Full Text Available Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Etiology is still unknown with an autosomal recessive inheritance. Less than 100 cases have been reported in the medical literature. We present a 32-year-old man having asymptomatic peeling of skin since birth. Sheets of skin were peeling from his neck, trunk, and extremities, following friction or rubbing especially if pre-soaked in water but sparing palm and soles. Histologically, there was epidermal separation at the level of stratum corneum, just above the stratum granulosum. This case is being presented due to its rarity.

  16. A Case of Peeling Skin Syndrome.

    Science.gov (United States)

    Singhal, Anil K; Yadav, Devendra K; Soni, Bajrang; Arya, Savita

    2017-01-01

    Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Etiology is still unknown with an autosomal recessive inheritance. Less than 100 cases have been reported in the medical literature. We present a 32-year-old man having asymptomatic peeling of skin since birth. Sheets of skin were peeling from his neck, trunk, and extremities, following friction or rubbing especially if pre-soaked in water but sparing palm and soles. Histologically, there was epidermal separation at the level of stratum corneum, just above the stratum granulosum. This case is being presented due to its rarity.

  17. Kinky hair syndrome - a case report -

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Kim, In One; Chi, Je G.; Moon, Hyung Ro

    1986-01-01

    Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severe neuro degenerative change and infant death. In 1962, Menges and associates described five boys of a related pedigree with severe psychomotor retardation, seizures and widespread cerebral and cerebellar degeneration. In 1969, Weissenberg and associates specified the radiological characterization of the syndrome. Symmetrical metaphyseal spurring and diaphyseal periosteal reaction of the long bones, anterior rib flaring, a malformed cerebral arterial system and subdural effusion. In 1972, Danks and associates found the disease to be associated with a defect of copper metabolism, confirmed by studies with labelled Cu. Authors experienced a case with characteristic clinical picture, and report cerebral and abdominal arteriographic changes and plain radiographic findings with brain CT, DSA and post-mortem angiography.

  18. 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..

  19. Meckel Gruber syndrome, A case report

    Science.gov (United States)

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

    2015-01-01

    ABSTRACT. Introduction: 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. Case: 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. Conclusıon: 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. PMID:26037304

  20. Posterior reversible encephalopathy syndrome: A case report

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    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.

  1. Prune Belly syndrome: A rare case report.

    Science.gov (United States)

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

    Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of genetic or congenital anomaly in her family. Examination of the baby revealed hypotonia, deficient abdominal muscle, cryptorchidism, palpable kidney, and bladder. Ultrasound examination of the abdomen revealed bilateral gross hydronephrosis and megaureter. Provisional diagnosis of PBS was made and the baby was admitted in neonatal intensive care units for further management. Routine antenatal care with ultrasonography will help in detecting renal anomalies, which can be followed postnatally. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  2. Charles Bonnet Syndrome: A Case Report

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    Hatice HARMANCI

    2013-09-01

    Full Text Available Charles Bonnet syndrome is a clinical entity in which visual hallucinations are encountered during the prognosis of illnesses presenting with vision loss. The syndrome occurs usually in the elderly and there is generally no history of mental disorder to mention. . Patients and #8217; ability to test the reality is generally conserved and they point out that what they see is not real. Affected people, for fear of being criticized as and #8220;insane and #8221;, do not easily express their experiences but they refer to a psychiatrist because of the increasing fear and anxiety. In this case report, a 73 years old male patient who has lost his vision due to diabetic retinapathy and whose quality of life was affected will be discussed in the acccompaniment of literature data. [J Contemp Med 2013; 3(3.000: 190-192

  3. CASE REPORT: Phocomelia Syndrome - A Case Report

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    Gayatri S. Chakre

    2012-07-01

    Full Text Available Phocomelia is an extremely rare malformation in which babies are born with limbs that look like flippers on a seal. Although various factors can cause phocomelia, the prominent roots came from the drug use of thalidomide and from genetic inheritance. Phocomelia is transmitted as an autosomal recessive trait with variable expressivity and malformation is linked to chromosome 8.

  4. CASE REPORT: Phocomelia Syndrome - A Case Report

    OpenAIRE

    Gayatri S. Chakre; S. U. Chakre; P. R. Kulkarni

    2012-01-01

    Phocomelia is an extremely rare malformation in which babies are born with limbs that look like flippers on a seal. Although various factors can cause phocomelia, the prominent roots came from the drug use of thalidomide and from genetic inheritance. Phocomelia is transmitted as an autosomal recessive trait with variable expressivity and malformation is linked to chromosome 8.

  5. H Syndrome: A case report and review of literature

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    Dilip Meena

    2018-01-01

    Full Text Available H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

  6. H Syndrome: A Case Report and Review of Literature

    Science.gov (United States)

    Meena, Dilip; Chauhan, Payal; Hazarika, Neirita; Kansal, Naveen Kumar

    2018-01-01

    H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity. PMID:29527032

  7. A Case: Eight-and-A-Half Syndrome

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    Cennet Nalan Kuş

    2007-12-01

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

  8. Hunter′s syndrome: A case report

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    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. A Case of Prune Belly Syndrome

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    Wei Xu

    2015-06-01

    Full Text Available Prune belly syndrome (PBS is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, “prune-like” abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery–right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection.

  10. A case of prune belly syndrome.

    Science.gov (United States)

    Xu, Wei; Wu, Hui; Wang, Dong-Xuan; Mu, Zhi-Hong

    2015-06-01

    Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection. Copyright © 2013. Published by Elsevier B.V.

  11. A traumatic case of Weber's syndrome

    International Nuclear Information System (INIS)

    Shirakuni, Takayuki; Tamaki, Norihiko; Matsumoto, Satoshi; Ishida, Kazuhiko; Fujiwara, Masayasu.

    1983-01-01

    The present authors encountered a rare traumatic case of Weber's syndrome in which computerized tomography (CT) revealed a hematoma localized in the tegmentum of the midbrain. This 49-year-old male was admitted because of a disturbed consciousness level caused by a hit on the right frontal area in a traffic accident. A neurological examination on admission disclosed Weber's syndrome: a dilatation of the right pupil, no reaction to direct or indirect light stimuli, ptosis of the right eyelid, lateral deviation of the right eyeball, and left hemiparesis with increased deep tendon reflexes and Babinski's sign. CT revealed a high-density area localized in the tegmentum of the midbrain, but interpeduncular and quadrigeminal cisterns were patent. After admission, his motor function and level of consciousness have showed improvement with medical treatment, but his right oculomotor palsy is unchanged. CT performed 7 days after admission showed a low-density area in place of the absorbed hematoma. In this case, we cannot explain the mechanism of the primary brain-stem injury. However, there are four possible mechanisms: nerve avulsion, neurovascular friction, localized contusion, and shear strain injury. Careful consideration of the anatomical relationship shows that it is likely that the lesion was a contusional hemorrhage caused by impact on the tentorial edge. (author)

  12. Management of Lowe syndrome: a case report

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    Risky Vitria Prasetyo

    2015-06-01

    Full Text Available Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys.1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined.2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl living in Italy in the year 2005.2,4,5 It almost exclusively affects males.6 Physicians may not be familiar with Lowe syndrome due to its rarity.4

  13. Kartagener′s syndrome: A case series

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    Mayank Mishra

    2012-01-01

    Full Text Available Kartagener′s syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad of situs inversus, chronic sinusitis, and bronchiectasis. The basic problem lies in the defective movement of cilia, leading to recurrent chest infections, ear/nose/throat symptoms, and infertility. We hereby report three unusual cases of this rare entity - an infertile male with azoospermia in whom Bochdalek′s diaphragmatic hernia coexisted, another case of an infertile female, and a third of an infertile male with oligospermia. The need for a high index of suspicion to make an early diagnosis cannot be overemphasized in such patients so that wherever possible, options for timely treatment of infertility may be offered and unnecessary evaluation of symptoms is avoided.

  14. Case Report: A Rare Case Report of Frontal Lobe Syndrome

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    Morteza Nouri- Khajavi

    2003-04-01

    Full Text Available The frontal lobe syndrome is a permanent personality change disorder with characteristic clinical pictures, which followed by frontal lobes damage. Clinical picture include: Affective instability, recurrent aggressive behavior, impaired social judgment, apathy and undifferentiating or suspiciousness and paranoid ideations. According DSM-IV classification frontal lobe syndrome named personality change due to head trauma on Axis I. Herein we report a case of 46 years-old man, who has developed behavioral disturbances following head trauma, about 10 years ago. Main clinical figures in this case are apathy, avolition and, undifferentiating. Clinical pictures are constant during these 10 years. The diagnostic approach has been based on patient’s problems history which, has taken from his family, mental status examination, Neurological examination, Brain imaging and Neuropsychological assessments which related to frontal lobes function. Because of rarity & neglection due to mysterious function of frontal lobes, and also considering that personality change from previous level is prominent figure of this syndrome and also brain imaging findings, which compatible with clinical findings, with this aim, we have reported this case.

  15. Osteomalacia in a Case of Adult-Onset Bartter Syndrome

    Directory of Open Access Journals (Sweden)

    Rashid Naseem Khan

    2018-01-01

    Full Text Available Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia.

  16. Breast Cancer in Cowden Syndrome: A Case Report

    International Nuclear Information System (INIS)

    Jung, Mi Hee

    2009-01-01

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

  17. Exploding Head Syndrome:A Case Report

    Directory of Open Access Journals (Sweden)

    Gautam Ganguly

    2013-01-01

    Full Text Available Introduction: Exploding head syndrome (EHS is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. Case Presentation: A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These events were described ‘as if there are explosions in my head’. A neurologic examination, imaging studies, and a polysomnogram ensued, and the results led to the diagnosis of EHS. Conclusion: EHS is a benign, uncommon, predominately nocturnal disorder that is self-limited. No treatment is generally required. Reassurance to the patient is often all that is needed.

  18. [Gorlin-Goltz syndrome--a case report].

    Science.gov (United States)

    Debski, Tomasz; Jethon, Józef

    2010-06-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies. To present a case of GGS and explain modern standards of care for patients with this syndrome. Authors report the case of a 36-year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas. Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome. Comprehensive interview and broadening of the diagnostics enabled to diagnose GGS and to introduce the appropriate treatment. GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process. Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.

  19. 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.

  20. Seckel syndrome: A rare case report

    OpenAIRE

    Rinky Sisodia; Ravi Kadur Sundar Raj; Vipin Goel

    2014-01-01

    Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor ps...

  1. Presentation of a case with Wellens syndrome

    Directory of Open Access Journals (Sweden)

    Luis A. Rodríguez López

    2016-06-01

    Full Text Available This case report is about a 56-year-old male, farm worker with a history of being a smoker and suffering from high blood pressure, who was admitted at the Cardiology Care Department with the diagnosis of coronary artery disease –unstable angina–, because of chest pain related to physical effort and changes in the appearance threshold. Rest-electrocardiogram, painless, shows deep, symmetric negative T waves in anterior wall, without enzyme elevation; but during admission the patient evolves quickly, clinically and electrically, to an extensive anterior wall acute myocardial infarction, without responding to the fibrinolytic reperfusion therapy, and showing a ventricular tachycardia degenerating into ventricular fibrillation. There was no response to the maneuvers of cardiovascular resuscitation, thus, he dies. It is diagnosed postmortem as a Wellens syndrome, because necropsy showed severe atherosclerotic disease of the proximal segment of the left anterior descending coronary artery with extensive anterior transmural infarction.

  2. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

    Science.gov (United States)

    Goyal, Deepak; Yadav, Dinesh K; Shukla, Umesh; Sethi, Sidharth K

    2010-11-08

    We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  3. Recurrent Hypothenar Hammer Syndrome: A Case Report.

    Science.gov (United States)

    Adams, Nicholas S; Ford, Ronald D

    2016-10-01

    Hypothenar hammer syndrome (HHS) is a rare cause of digital ischemia and pain caused from repetitive trauma to the palm. Often related to occupational practices, thrombosis and embolization can occur. Treatment is often surgical and involves excision with or without reconstruction. We describe a 55 year-old, male pipe fitter previously diagnosed and treated for HHS with excision and repair using a reversed interpositional vein graft in the mid-1980's. He continued to work in the profession, which he regularly used his palm as a hammer and returned approximately 30 years later with recurrent symptoms of cold intolerance and pain. Angiography confirmed occlusion of the ulnar artery with emboli present distally. The patient was again treated with excision and reconstruction. HHS is an uncommon cause of digital ischemia. Its recurrence is even more rare. To our knowledge, this is the first described case of diagnosed and treated recurrent HHS.

  4. [Prune-Belly Syndrome: a case report].

    Science.gov (United States)

    Tattoli, Fabio; De Prisco, Ornella; Gherzi, Maurizio; Falconi, Daniela; Marazzi, Federico; Marengo, Marita; Serra, Ilaria; Tamagnone, Michela; Formica, Marco

    2014-01-01

    Prune-Belly Syndrome (PBS) is a rare congenital syndrome characterized by the absence of abdominal muscles, anomalies in the urinary tract, megaureter, cryptorchidism or testicular agenesis, hypertension and worsening chronic kidney disease (CKD). The incidence is estimated between 1 out of 35,000 and 1 out of 50,000 born alive, and it affects males in prevalence (97%). In the present study we describe the case of a 38 year old male patient (followed since May 2011) affected by PBS, CKD, one functional kidney at the scintigraphy, pediatric testicular implants, bladder surgery and correction of pectus excavatum. At the beginning of the observation, renal function was deteriorated, with a creatinine 3.3 mg/dl, GFR calculated at MDRD 23 ml/min, proteinuria in nephrotic range (4 g/day), high blood pressure, anemia and hyperparathyroidism. In the following examinations renal function framework worsened, despite the adoption of a low-protein diet. Due to the functional trend, the patient was prescribed hemodialysis as substitute treatment. In January 2013 a first attempt of artero-venous fistula (AVF) did not succeed, while a new AVF in March 2013 resulted effective. In July hemodialysis was started. In the future, we expect to insert the patient in the Kidney Transplant List (since surgical feasibility has already been positively evaluated). Our case is quite peculiar due to the late beginning of substitute treatment. Further, SPB represents a challenge that, in the absence of a prompt and effective treatment, inevitably it leads to terminal uremia; nevertheless, given a proper treatment, a transplant with good chances of success can be envisaged.

  5. A Rare Case: Touraine Solente Gole Syndrome

    Directory of Open Access Journals (Sweden)

    Kamil Şahin

    2017-03-01

    Full Text Available Touraine-Solente-Gole syndrome, also known as pachydermoperiostosis, is transmitted as an autosomal recessive trait. It is characterized by enlargement of fingers and toes, pachyderma, excessive sweating, and pain. In this paper, we present a 9-year-old patient to attract attention to this rare disease. A 9-year-old female patient was brought to our outpatient clinics with sweating and enlargement of hands and feet. She was the fourth child born to consanguineous parents. Her 26-year-old elder sister also had the same symptoms. Her physical examination revealed clubbing of the hands, and thick and sweating fingers. Her test results were unremarkable. Hand x-ray revealed epiphyseal, and metaphyseal thickening of the hands, and periostal hyperosteosis. Pachydermoperiostosis usually begins in childhood, progresses till 20 years of age, then, ceases. Delayed closure of fontanelles, and patent ductus arteriosus may be symptoms of the disease. Patients with deletions and mutations in HPGD (15-hydroxy prostaglandin dehydrogenase gene (4q33-q34 demonstrate this phenotype. This syndrome is more frequent in females, and mimics rheumatic diseases. Ibuprofen therapy may be used for bone pain. Colchicine is the alternative treatment. In cases of excessive hand and feet sweating associated with clubbed fingers pachydermoperiostosis should be brought to mind.

  6. MELKERSSON-ROSENTHAL SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Adil BAŞMAN

    2017-01-01

    Full Text Available Melkersson-Rosenthal Syndrome (MRS is a rare disorder consisting of a triad of persistent or recurrent orofacial edema, relapsing facial paralysis and fissured tongue. It is rarely possible to observe all aspects of the classical triad at the same time, since these symptoms may appear in different times of life cycle. The most common symptom is orofacial edema. Although etiology of MRS is unclear, various factors such as infections, genetic predisposition, immune deficiency, food intolerance and stress have been held responsible. MRS is diagnosed based on clinical features. This case report describes a 39 years old male patient with recurrent swelling of the upper lip. Clinical examinations showed classical triad of MRS. The diagnosis and treatment procedures were presented with special emphasis to the clinical features of this rare condition.

  7. A case report of Halzon syndrome

    Directory of Open Access Journals (Sweden)

    Montazeri A

    1997-07-01

    Full Text Available Report of two cases from Halzon syndrome (Tabriz-1996-97. One mother and her daughter ten minutes after eating from raw or half-ripe sheep gut (bowel, showed clinical demonstration of Halzon syndrome. Clinical aspects included: nasal, ear, frontal, and throat pruritis; oral and nasal discharge, caugh, headache, vertigo and mucoid sputum. One day after beginning of this signs and symptoms, some small white worms in 4-6 mm size, discharge from nose and mouth of patients. These worms in laboratory study, were diagnosed as nymph of linguatula serrata

  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.

  9. Non-Syndromic Oligodontia in permanent dentition: A case report ...

    African Journals Online (AJOL)

    of a syndrome. The present case report highlights a unique case of non syndromic oligodontia, with agenesis of four permanent incisors, left permanent canine and right second premolar in the mandibular arch and its management with a novel fixed functional prosthetic appliance. Prosthetic rehabilitation is an urgent need ...

  10. Primary sialoangiectasia - a diagnostic pitfall in Sjogren's syndrome - Case report

    NARCIS (Netherlands)

    Kalk, WWI; Vissink, A; Spijkervet, FKL; Bootsma, H

    A case of primary sialoangiectasia, which in this case was initially misdiagnosed as Sjogren's syndrome, is described. Other diseases, including HIV infection, psoriatic arthritis, and acute parotitis, may cause glandular changes similar to the changes found in the syndrome. Therefore, sialography

  11. Prune Belly Syndrome in Adolescence: A Case Report

    Directory of Open Access Journals (Sweden)

    Prasad Mylarappa

    2015-01-01

    Full Text Available The Prune Belly syndrome also known as Eagle Barret syndrome is a rare disorder. We report a rare case of Prune Belly syndrome in 17 year old boy. Patient presented with complains of absence of both testis in scrotum since birth. On examination patient was found to have lax abdominal wall. Patient was further evaluated and found to have shrunken small right kidney and left hydroureteronephrosis and the diagnosis of Prune Belly Syndrome was made. Prune Belly Syndrome represents a wide spectrum of disease. Each patient must be dealt with on an individual basis. A course of watchful waiting with selective surgical intervention has also been successful.

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

    Directory of Open Access Journals (Sweden)

    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.

  13. A Case Report of Ichthyosis Lamellar Syndrome

    Directory of Open Access Journals (Sweden)

    Gh. Eshghi

    2014-04-01

    Full Text Available Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency. Case Report: Our patient was a 6 year old girl and she was the result of consanguinity. She had large plate-like scales. The scales had mosaic-like pattern and erythroderma was absent. Tautness of her facial skin was associated with ectropion and eclabion and hypoplasia of auricular cartilages. She had scarring alopecia because of taut skin (specially at the periphery of scalp. She also had palmoplantar keratoderma and secondary nail dystrophy and thanked nails. Her parents also gave us the history of heat intolerance and it is because of interaepi-dermal constriction of sweat ducts. Our patient had the history of recurrent ear infections and it is because of accumulation of scales in the external ear. Conclusion: Our patient underwent a biopsy and based on our clinical findings her diagnosis was lamellar ichthyosis. (Sci J Hamadan Univ Med Sci 2014; 21 (1:76-79

  14. 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.

  15. A case of Pseudo-Bartter syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Ik; Choi, Bo Whan; Lee, Yul; Chung, Soo Young [College of Medicine, Hallym University, Seoul (Korea, Republic of)

    1994-10-15

    Pseudo-Bartter Syndrome is a rare medical disease of the kidney characterized by normal blood pressure, hypokalemic metabolic alkalosis, hyperreninemia and hyperaldosteronism with drug history of diuretics. We report US, CT and MRI findings of a patients with clinically proved Pseudo-Bartter syndrome. The patient was a 37 year old woman with a history of long term ingestion of the diuretics(furosemide) for 20 years. Renal US revealed hyperechoic renal medulla at both kidneys. The resistive index(RI), calculated from the duplex doppler waveform is 0.61. Unenhanced CT revealed faint high attenuation along the medulla. T1-weighted MRI revealed indistinct corticomedullary differentiation.

  16. A case of Pseudo-Bartter syndrome

    International Nuclear Information System (INIS)

    Yang, Ik; Choi, Bo Whan; Lee, Yul; Chung, Soo Young

    1994-01-01

    Pseudo-Bartter Syndrome is a rare medical disease of the kidney characterized by normal blood pressure, hypokalemic metabolic alkalosis, hyperreninemia and hyperaldosteronism with drug history of diuretics. We report US, CT and MRI findings of a patients with clinically proved Pseudo-Bartter syndrome. The patient was a 37 year old woman with a history of long term ingestion of the diuretics(furosemide) for 20 years. Renal US revealed hyperechoic renal medulla at both kidneys. The resistive index(RI), calculated from the duplex doppler waveform is 0.61. Unenhanced CT revealed faint high attenuation along the medulla. T1-weighted MRI revealed indistinct corticomedullary differentiation

  17. A Prenatal Case Report with Patau Syndrome

    Directory of Open Access Journals (Sweden)

    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.

  18. Churg-Strauss syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Dinić Miroslav Ž.

    2013-01-01

    Full Text Available Introduction. Churg-Strauss syndrome (CSS is an allergic granulomatous angiitis, a rare disease of small and medium arteries and veins, associated with the presence of perinuclear antineutrophil cytoplasmic antibodies (p-ANCA. According to the American College of Rheumatology (ACR, there are four or more criteria out of six for the diagnosis: asthma, eosinophilia (> 10% in peripheral blood, paranasal sinusitis, pulmonary infiltrates, histological evidence of vasculitis with extravascular eosinophils, and mononeuritis multiplex or polyneuropathy. Case report. We reported a female patient, aged 80 years, with asthma for many decades and repeatedly verified eosinophilia in peripheral blood, in which CSS was suspected only after the occurrence of skin changes in the form of vesicles, vesiculopustule, purpuric macula, papule and petechiae. Further tests verified pulmonary infiltrates, paranasal sinusitis, extravascular eosinophils on histopathologic sample of skin tissue, and polyneuropathy. The treatment started with methylprednisolone (60 mg/d, with decreasing doses, and continued with pulse doses of cyclophosphamide (800 mg once monthly, also corticosteroid ointment for skin lesions. Conclusion. Despite long-standing pulmonary symptoms and laboratory findings of eosinophilia, the appearance of skin changes raised suspicion of possible CSS. Skin changes resolved and the patient was reffered to rheumatologist.

  19. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    Science.gov (United States)

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  20. OROFACIAL FINDINGS IN NOONAN SYNDROME: A CASE REPORT

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    Raluca Maria MOCANU

    2013-06-01

    Full Text Available Noonan syndrome is an autosomal dominant multisys‐ tem disorder, associated with cardiac anomalies and a dis‐ tinctive facial appearance, characterized by genetic heterogeneity. Noonan syndrome affects both females and males, and has an estimated incidence of 1 per 1,000‐2,500 live births. The present report aims at presenting the cranio‐dento‐facial findings in a case of Noonan syndrome in a 6 year‐old male.

  1. [A case of Isaacs' syndrome associated with dextrocardia].

    Science.gov (United States)

    Torres, L; Cosentino, C; Vélez, M; Anicama, A

    Isaacs syndrome is a disorder of unknown etiology characterized by muscular rigidity, cramps and myokymias. Described by Isaacs in 1961 and called by him as continuous muscular activity syndrome. There are few reports in Latino american countries. A 31 year-old man with sustained muscular contractions in lower limbs and diffuse myokymias since he was eighteen-year old. Dextrocardia was disclosed on clinical examination. We report the case of a patient with Isaacs syndrome and dextrocardia.

  2. Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hazza Issa

    1999-01-01

    Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

  3. Churg-Strauss syndrome: a case report*

    Science.gov (United States)

    Fernandes, Gabriel Lacerda; Teixeira, Arivaldo Araújo; Antón, Ana Graziela Santana; Reis, Alan Timóteo Rodrigues; de Freitas, Ana Carolina Rezende; Basílio, Dunya Bachour

    2014-01-01

    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. PMID:25741095

  4. 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)

  5. A case of splenomegaly in CBL syndrome

    NARCIS (Netherlands)

    Coe, Rachel R.; McKinnon, Margaret L.; Tarailo-Graovac, Maja; Ross, Colin J.; Wasserman, Wyeth W.; Friedman, Jan M.; Rogers, Paul C.; van Karnebeek, Clara D. M.

    2017-01-01

    We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric

  6. A case report of burning mouth syndrome: A diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Ghassan M Al-Iryani

    2016-01-01

    Full Text Available Oral dysaesthesia syndrome called burning mouth syndrome (BMS causes chronic pain in the orofacial region without presence of any of the detectable organic causes. Common features of BMS are burning sensation in the mouth, xerostomia, dysgeusia, etc. These symptoms ideally show a diurnal pattern, were they are less in the morning and worsen as the day progresses and classically subside at the night time. BMS have multifactorial etiology. This report describes a case of burning mouth syndrome in a 60 year old female patient.

  7. Cogan's Syndrome in a Jordanian patient: A case report | Al ...

    African Journals Online (AJOL)

    We reported a Jordanian case of Cogan's Syndrome (CS). A 22-year old male patient presented with interstitial keratitis. The patient was treated successfully with topical steroids but over the following months, he developed vertigo, sensorineural hearing loss (SNHL) and generalized vasculitis. This is the first reported case ...

  8. Prune Belly Syndrome: A case Report | Ezeaka | Nigerian Quarterly ...

    African Journals Online (AJOL)

    The Prune Belly Syndrome (PBS) is a anomaly. It comprises of a lax abdominal wall musculature, urinary tract anomalies, and cryptorchidism. Our patients had urinary tract infection and renal failure. These are well described consequences of the syndrome and are poor prognostic indices. This case report was undertaken ...

  9. 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.

  10. Happle-tinschert syndrome: Report of a case with hemimegalencephaly

    International Nuclear Information System (INIS)

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

    2014-01-01

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

  11. Churg-Strauss syndrome in childhood: a case report.

    Science.gov (United States)

    Albahri, Ziad; Minxová, Lenka; Lukeš, Antonín; Mawiri, Abdul Al; Štefáčková, Šárka

    2014-10-01

    Churg-Strauss syndrome is a rare form of small-vessel vasculitis. In the current report, we describe the case of a 17-year-old Czech girl predominantly characterized by peripheral neuropathy, the presence of cardiac and pulmonary involvement, hypereosinophilia, asthma, and sinusitis that led to the diagnosis of Churg-Strauss syndrome. © The Author(s) 2013.

  12. Fetal urine biochemistry in antenatal Bartter syndrome: a case report.

    Science.gov (United States)

    Rachid, Myriam L; Dreux, Sophie; Czerkiewicz, Isabelle; Deschênes, Georges; Vargas-Poussou, Rosa; Mahieu-Caputo, Dominique; Oury, Jean-François; Muller, Françoise

    2016-09-01

    Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.

  13. A case of William's syndrome associated peripheral pulmonary arterial stenosis

    International Nuclear Information System (INIS)

    Jung, Kyung Hwa; Hwang, Mi Soo; Kim, Sun Yong; Chang, Jae Chun; Park, Bok Hwan

    1988-01-01

    William's syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that 'infantile hypercalcemia', 'peculiar facies' and 'supravalvular aortic stenosis.' In has other many vascular anomalies, such as peripheral pulmonary arterial stenosis, coronary arterial stenosis, celiac arterial stenosis, and renal aterial stenosis. Only 32% of the patients have evidence of supravalvular aortic stenosis. And it is very rare disease entity that has been reported rarely in Korea. Recently authors experienced a case that was questioned William's syndrome with peripheral pulmonary arterial stenosis, clinically and preliminary radiologically and this case was confirmed by operation. Here we report a case of William's syndrome with peripheral pulmonary arterial stenosis and reviewed literatures

  14. Arteriohepatic Dysplasia (Alagille Syndrome in a Child (Clinical Case

    Directory of Open Access Journals (Sweden)

    Ye.V. Omelchenko

    2015-03-01

    Full Text Available The article presents a clinical case of a child with a rare nosology — Alagille syndrome. Among the causes of neonatal cholestasis, Alagille syndrome is ranked second, it occurs with an incidence of 1 per 70,000 of newborns. This syndrome is characterized by an insufficient number or by a small dia­meter of intrahepatic bile ducts, which carry bile from the liver. Alagille syndrome includes a combination of at least three of the five main symptoms: chronic cholestasis, cardiovascular defects, abnormalities of the spine, eye defects, typical craniofacial signs. The only definitive therapy with the formation of liver cirrhosis and without gross defects is liver transplantation.

  15. 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. Reprint & Copyright © 2013 Association of Military Surgeons of the U.S.

  16. Klippel-Trenaunay-Weber Syndrome:A case report

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Kyung Nam; Lee, Sun Wha; Yoon, Yup; Lim, Jae Hoon [Kyung Hee University Hopital, Seoul (Korea, Republic of)

    1990-10-15

    The Klippel-Trenauna-Weber Syndrome is characterized by a classical triad that includes unilateral cutaneous capillary hemangiomas, varicose veins, and local gigantism with both soft tissue and osseous overgrowth. Authors have experience on case of Klippel-Trenaunay-Weber Syndrome with hemangiomas of ipsilateral scrotum and foot.

  17. Usher syndrome associated with Fuchs’ heterochromic uveitis: a case report

    Directory of Open Access Journals (Sweden)

    Turan-Vural E

    2011-04-01

    Full Text Available Ece Turan-Vural, Banu Torun-Acar, Nejla Tükenmez, M Şahin Sevim, Bulent Buttanri, Suphi AcarOphthalmology Clinic, Haydarpasa Numune Education and Research Hospital, Istanbul, TurkeyAbstract: We report a case of Usher syndrome in association with unilateral Fuchs' heterochromic uveitis.Keywords: Fuchs’ heterochromic uveitis, Usher syndrome, deafness, blindness

  18. 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.

  19. 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.

  20. [Idiopathic rabbit syndrome: a case report].

    Science.gov (United States)

    Miwa, H; Sasaki, Y; Hatori, K; Tanaka, S; Mizuno, Y

    1999-10-01

    We report a patient with idiopathic oromandibular tremor resembling rabbit syndrome. The patient is a 36-year-old Japanese woman without any past and medical histories. On neurological examination, there was no abnormal finding except the oromandibular tremor. The tremor was confined to the jaw and perioral muscles. There was no extremity tremor. Laboratory findings were all normal, as well as her MRI and EEG. Surface EMG studies revealed that regular grouped discharges at a frequency of about 6 Hz appeared in the masseter, the orbicularis oris, and the digastric, and that the alternative contractions were found between the masseter and the digastric. Oral administration of tiapride was effective, but diazepam, trihexyphenydil, levodopa, and a beta-blocker were without effect. Although she had not taken neuroleptics, the appearance of the tremor was identical to the rabbit syndrome. The efficacy of the dopamine blockade may suggest that an abnormal basal ganglia function contributes to the pathophysiologic mechanism underlying this type of tremor.

  1. Goldenhar Syndrome: Review of Literature and A Case Report

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    Anusha Rangare Lakshman

    2017-07-01

    Full Text Available Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. It has been reported with the incidence between 1:3500 and 1:5600, with a male: female ratio of 3:2. The exact etiology is unknown. Most of the cases have been sporadic. This paper presents a rare case of Goldenhar syndrome in a 6 year old boy reported to us for the fabrication of removable ear prosthesis for esthetic purpose.

  2. 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.

  3. Waardenburg syndrome--a case report.

    Science.gov (United States)

    Bansal, Yuvika; Jain, Parul; Goyal, Gaurav; Singh, Malvika; Mishra, Chittranjan

    2013-02-01

    Waardenburg syndrome is a rare genetic disorder characterized by varying degree of deafness associated with pigmentary anomaly and defects of neural crest cell derived structures. Four subtypes (I-IV) with variable penetrance and gene expression of different clinical features have been described. We report a patient showing constellation of complete heterochromia, dystopia canthorum, white forelock, and synophrys. Other affected family relatives with heterochromia have been depicted in pedigree. Copyright © 2012 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

  4. Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with prune belly syndrome: a case report.

    Science.gov (United States)

    Akhtar, Tanveer; Alladi, Anand; Siddappa, O S

    2012-01-01

    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.

  5. A Case with Wolfram (DIDMOAD Syndrome

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    Bulent Altunoluk

    2012-09-01

    Full Text Available Wolfram syndrome, seen in 1/770000 of the population is an autosomal recessive dysmorphogenetical disease with unknown pathogenesis. It is characterized with the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness, and also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade,diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade.We present a boy 14 years old who had been followed-up with the diagnosis of Wolfram syndrome in this article. He had been followed-up with juvenile-onset diabetes mellitus for 9 years. Physical and laboratory exam revealed neurogenic bladder, deafness and optic defect. We emphasize the importance of family screening regarding the early diagnosis of Wolfram syndrome in the other individuals of the family since the disease shows an autosomal recessive inheritance.

  6. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

    Science.gov (United States)

    Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

    2013-01-01

    ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

  7. Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

    Science.gov (United States)

    Skipper, Annalynn

    2012-02-01

    Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

  8. A Classic Case of Basal Cell Nevus Syndrome

    Directory of Open Access Journals (Sweden)

    Dattaprasad Dadhe

    2015-01-01

    Full Text Available The basal cell nevus syndrome is an autosomal dominant inherited condition characterized mainly by basal cell carcinomas, multiple keratinizing odontogenic tumors, and other systemic anomalies. As these manifestations do not alter the patient′s lifestyle, most of the cases are diagnosed through oral abnormalities. A classic case of basal cell nevus syndrome fulfilling almost all the major and minor criteria has been reported here.

  9. 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.

  10. Nevoid Basal Cell Carcinoma Syndrome : A Case Report

    Directory of Open Access Journals (Sweden)

    K Rajanikanth

    2004-01-01

    Full Text Available The nevoid basal cell carcinoma syndrome (NBCCS or Gorlin - Goltz syndrome is an autosomal disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. The major organ systems involved are skin, bones, central nervous system, eyes, gonads and endocrine. This particular syndrome is extensively described in the literature under different names. However, there are only few cases reported in the Indian literature. An unusual case of a 33-year old male with large odontogenic keratocyst involving impacted canine in the mandible, along with multiple cysts and impacted teeth in the maxilla; bifid rib and vertebral anomalies has been described.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. Vestibular dysfunction in Turner syndrome: a case report.

    Science.gov (United States)

    Baxter, Michael; Agrawal, Yuri

    2014-02-01

    Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

  13. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

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    Shukla Umesh

    2010-11-01

    Full Text Available Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  14. 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.

  15. Yellow Nail Syndrome - a Case Report

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    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.

  16. Reversible cerebral vasconstriction syndrome: A case report

    International Nuclear Information System (INIS)

    Lee, Jeong Sub; Park, Ji Kang; Kim, Seung Hyoung; Jeong, Sun Young

    2013-01-01

    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.

  17. 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.

  18. Brain-hepato-renal syndrome (Zellweger syndrome). Report of two cases and a review of the syndrome

    International Nuclear Information System (INIS)

    Ruiz, T.; Caparros, C.; Blanco, A.; Lopez, A.M.

    1997-01-01

    Cerebro-hepato-renal syndrome is a rare disorder that is transmitted by autosomal recessive inheritance. Children with this syndrome present mongoloid facies and severe muscle hypotonic at birth. Scimitar-like knee calcifications are considered a pathognomonic feature of this disorder. We present two patients with Zellweger syndrome, according to the diagnosis suggested by our Radiodiagnostic Service. Our objective is to stress the importance of the radiological findings, which in many cases are decisive in establishing the definitive diagnosis. (Author) 10 refs

  19. Duane Syndrome. Presentation of a case.

    Directory of Open Access Journals (Sweden)

    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. Kleine-Levin syndrome as a neuropsychiatric presentation: A case ...

    African Journals Online (AJOL)

    2014-07-02

    Jul 2, 2014 ... describes a case of typical KLS, the first to be documented in South. Africa (SA), and ... re admitted with a second episode of aggression, hypersomnia, headaches .... of KLS, Arnulf et al. ... Neurol 2010;13(4):241-246. ... Muratori F, Bertini N, Masi G. Efficacy of lithium treatment in Kleine-Levin syndrome. Eur.

  1. A case of possible Kounis syndrome as a complication of scombroid syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Rusconi

    2017-11-01

    Full Text Available Kounis syndrome is defined as the concurrence of acute coronary syndromes such as coronary spasm or acute myocardial infarction with conditions associated with activation of inflammatory mediators such histamine, arachidonic acid and various cytokines and chemokines. Recently, a variety of unusual etiologies have been reported, including scombroid syndrome. We present a case of a woman without previous history of cardiac diseases or cardiovascular risk factors, who presented to emergency department after the onset of flushing, asthenia, palpitations, burning sensation in the mouth having just eaten tuna. The electrocardiogram revealed a sinus tachycardia with diffuse ST segment depression. After therapy, in a short time symptoms recovered and a second electrocardiogram no longer showed any ST changes. These electrocardiographic changes observed in our case were probably due to transitory coronary vasospasm as described in type I variant of Kounis syndrome.

  2. Wolfram (DIDMOAD syndrome: A Case report

    Directory of Open Access Journals (Sweden)

    Abdullah Kürsat Cingü

    2009-01-01

    Full Text Available A 10 years old boy admitted to Ophthalmology Clinic with the complaint of low vision. His ophthalmologic examination showed decreased visual acuity as counting fingers from 2 meters in both eyes. Biomicroscopic examination of his both eyes was normal. Optic atrophy was apparent in his both eyes on fundoscopic examination. He has been followed with the diagnosis of diabetes mellitus type 1 for the last two years and had nocturnal enuresis. He was diagnosed as Wolfram (DIDMOAD syndrome based on the results of clinical and laboratory examinations. His medical management has been carried out carefully however he was no longer able to attend his school. His IQ was within normal ranges and he was referred to a school which educates visually disabled children. Wolfram syndrome can easily be diagnosed in outpatient clinics since it does not require a genetic analysis. Physicians should keep in mind this diagnosis during their daily practice and provide the best management to the patient by achieving interdisciplinary co-operation.

  3. Syndromic odontogenic keratocyst: A case report and review of literature

    Science.gov (United States)

    Arshad, Fazil

    2016-01-01

    Odontogenic keratocysts (OKCs) may occur in two different forms, either as solitary (nonsyndromic OKCs) or as multiple OKCs (syndromic OKCs). Multiple OKCs usually occur as one of the findings in Gorlin–Goltz syndrome with other features such as skin carcinomas and rib, eye, and neurologic abnormalities. We report a rare case of Gorlin–Goltz syndrome in a 20-year-old male patient who presented with a slow growing swelling on lower right and left back teeth region since 2 months. Apart from these, other findings were frontal bossing, depressed nasal bridge, ocular hypertelorism, prominent supra orbital ridge, and mild mandibular prognathism. Excision was done and microscopic study revealed OKC and the follow-up could not be carried out for the complete management. We also presented a review of its pathogenesis, criterion, and differences between syndromic and nonsyndromic OKCs and suggest to thoroughly examine any patient who presents with multiple OKCs to rule out syndromic variety. PMID:27011939

  4. Nevoid Basal Cell Carcinoma Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Razavi

    2016-09-01

    Full Text Available Nevoid basal cell carcinoma syndrome (BCNS is an autosomal dominant inherited disorder. Multiple organ systems may be affected in this syndrome including abnormalities of the skin, skeletal system, genitourinary system and central nevus system. In this report, we present a case of Nevoid basal cell carcinoma syndrome in a 26-year-old male patient. The patient had multiple odontogenic keratocyst in the posterior of mandible, syndactyly in both hand and bifid rib. After enucleation and curettage, he was followed for two years. A number of both clinical and radiological criteria are used to diagnose this syndrome. Basal cell carcinoma syndrome is diagnosed with two major criteria or one major and two minor criteria. We must suspect this disorder in young patients with multiple odontogenic keratocyst and dental abnormalities whether related or not with other clinical manifestations or familial history.

  5. Cochlear vertebral entrapment syndrome: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Liu Chinghsiung; Lin Shinnkuang E-mail: sk1943@adm.cgmh.org.tw; Chang Yeujhy

    2001-11-01

    The authors describe a patient with isolated involvement of vestibulocochlear nerve by a huge vascular loop from vertebral dolichoectasia. No other neurological deficit was found except for unilateral hearing loss. Abnormal brainstem auditory evoked potential study indicated a retrocochlear lesion. The brain computed tomography (CT) and magnetic resonance imaging (MRI) studies demonstrated an abnormally enhanced vascular lesion impinged on the left porus acusticus with a displacement of the brainstem to the right. There was no infarction in the brainstem. A cerebral angiography demonstrated a megadolichoectatic horizontal loop at the intracranial portion of the left vertebral artery. There was no thrombus or atherosclerosis in the vertebrobasilar system. A mechanical compression by a vascular loop is the only possible pathogenesis for hearing loss. The authors diagnose this condition as cochlear vertebral entrapment syndrome.

  6. A case of piriformis syndrome presenting as radiculopathy

    Directory of Open Access Journals (Sweden)

    Rammurthy Kulkarni

    2015-01-01

    Full Text Available Piriformis syndrome has always remained as a diagnostic dilemma because of its varied presentation. Piriformis syndrome is myofascial dysfunction syndrome which causes pain not only because of trigger points within the muscle but also due to peripheral neuritis of the sciatic nerve. The sciatic neuritis is due to compression of the nerve as it passes through the greater sciatic foramen. The symptoms of sciatic nerve entrapment caused by the piriformis syndrome can be easily mistaken for radiculopathy as the nerve entrapment causes pain which radiates down below the knee and can go up to the foot. Electromyography (EMG and nerve conduction velocity (NCV studies can help differentiating these two conditions and can eliminate the need for the magnetic resonance imaging (MRI. In this paper, we have reported a case of piriformis syndrome which mimicked S 1 radiculopathy, where diagnosis was confirmed by diagnostic piriformis injection.

  7. Exploding head syndrome: a case report.

    Science.gov (United States)

    Ganguly, Gautam; Mridha, Banshari; Khan, Asif; Rison, Richard Alan

    2013-01-01

    Exploding head syndrome (EHS) is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These events were described 'as if there are explosions in my head'. A neurologic examination, imaging studies, and a polysomnogram ensued, and the results led to the diagnosis of EHS. EHS is a benign, uncommon, predominately nocturnal disorder that is self-limited. No treatment is generally required. Reassurance to the patient is often all that is needed.

  8. Afferent loop syndrome - a case report

    International Nuclear Information System (INIS)

    Borges, Ana Karina Nascimento; Pinheiro, Marco Antonio Lopes; Galvao, Cristine Norwig

    2000-01-01

    The afferent loop syndrome occurs in patients with previous gastric surgery for tumor, when there is anastomotic edema, use of inappropriate reconstruction technique for gastro jejunostomy or recurrent gastric cancer. Complaints such jaundice, intermittent abdominal distension associated with pain, and vomiting should be investigated in order to rule out this syndrome. (author)

  9. Gianotti-Crosti syndrome: a case report of a teenager.

    Science.gov (United States)

    Pedreira, Renata Leite; Leal, Juliana Martins; Silvestre, Keline Jácome; Lisboa, Alice Paixão; Gripp, Alexandre Carlos

    2016-01-01

    Gianotti-Crosti syndrome is a rare disease characterized by acral papular eruption with symmetrical distribution. It is a benign and self-limited disease; the symptoms disappear after two to eight weeks, without recurrences or scars. Skin lesions are usually asymptomatic. Prodrome might occur, suggesting upper respiratory infection, or constitutional symptoms. Diagnosis is eminently clinical, and this disease is associated with viral infections. Due to its rarity and low occurrence in adolescents and adults, we report a case of Gianotti-Crosti syndrome of a teenager.

  10. CASE SERIES Cubital tunnel syndrome: A report of two cases

    African Journals Online (AJOL)

    Cubital tunnel syndrome occurs as a result of compression of the ulnar nerve between the medial ... A 40-year-old man revealed high signal on T2W (T2 weighted). MRI in a thickened ... Pathological compression gives rise to cubital tunnel ...

  11. Axenfeld-Rieger syndrome (ARS): A review and case report.

    LENUS (Irish Health Repository)

    Waldron, Jennie M

    2011-08-29

    Axenfeld-Rieger syndrome (ARS) is a rare, autosomal dominant condition characterized by ocular, craniofacial, dental, and periumbilical abnormalities. Relatively little information exists on this syndrome within the dental literature despite the fact that midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. This is a case report of a 7-year-old Caucasian female with ARS who presented with significant ocular and dental anomalies. She was also found to have osteopenia. Her dental condition is described, her immediate treatment is shown, and her long-term treatment needs are discussed.

  12. Eagle′s syndrome: A rare case of young female

    Directory of Open Access Journals (Sweden)

    Mohammad Abdul Baseer

    2013-01-01

    Full Text Available Eagle′s syndrome is a condition that causes pain in the Craniofacial and cervical region of the neck. Symptoms related to the Eagle′s syndrome may be confused with the variety of neuralgias, oral, dental and temporomandibular joint (TMJ conditions. In this paper, a case of the very young female suffering with the difficulty in swallowing and recurrent dull pain in the throat with restriction of the movement of head to the left side was presented. A thorough past medical and dental history, extra oral and intra oral examination coupled with the panoramic radiographic interpretation were used to diagnose Eagle′s syndrome.

  13. Incomplete McCune-Albright Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-08-01

    Full Text Available 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 endocrine hyperfunction and developed early puberty at clinical course.

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

    Science.gov (United States)

    Steele, Jessica; Coombs, Christopher

    2018-06-01

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

  15. Hepatic infarction in HELLP syndrome; a case report

    Energy Technology Data Exchange (ETDEWEB)

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

    2000-11-01

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

  16. Hepatic infarction in HELLP syndrome; a case report

    International Nuclear Information System (INIS)

    Kim, Mi Jeong; Kim, Hong

    2000-01-01

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

  17. Adolescent with tourette syndrome and bipolar disorder: a case report.

    Science.gov (United States)

    Shim, Se-Hoon; Kwon, Young-Joon

    2014-12-01

    Tourette syndrome consists of multiple motor tics and one or more vocal tics. Psychopathology occurs in approximately 90% of Tourette syndrome patients, with attention-deficit/hyperactivity, mood, and obsessive-compulsive disorders being common. Additionally, Tourette syndrome and bipolar disorder may be related in some individuals. However, it is unclear why bipolar disorder may be overrepresented in Tourette syndrome patients, and more research is needed. Herein, we report the case of a 15-year-old boy diagnosed with both Tourette syndrome and bipolar disorder, whose symptoms improved with aripiprazole, atomoxetine, and valproate. The patient was diagnosed with Tourette syndrome at 8 years of age when he developed tics and experienced his first depressive episode. The patient had a poor response to a variety of antidepressants and anti-tic medications. A combination of valproate and aripiprazole stabilized both the patient's tics and mood symptoms. It is important to assess individuals with Tourette syndrome for other disorders, including bipolar disorder. The treatment of children and adolescents with both Tourette syndrome and bipolar disorder is an important clinical issue.

  18. Gorlin-Goltz syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Chetan A Pol

    2013-01-01

    Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

  19. Gorlin-Goltz syndrome: A rare case report.

    Science.gov (United States)

    Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

    2013-10-01

    Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

  20. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

    OpenAIRE

    Shukla Umesh; Yadav Dinesh K; Goyal Deepak; Sethi Sidharth K

    2010-01-01

    Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic...

  1. [Report of a case with Joubert syndrome and literature review].

    Science.gov (United States)

    Yi, Ya-hui; Li, Gang; Lu, Zhong-lie; Zhou, Jian-sheng; Yao, Zhen-wei; Wang, Peng-fei; Yao, Jin-xiang

    2011-12-01

    To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

  2. CASE REPORT Thirty years old lady with nephrotic syndrome: a ...

    African Journals Online (AJOL)

    CASE REPORT. Thirty years old lady with nephrotic syndrome: a case of biopsy proven lupus nephritis in Tanzania. FRANCIS FREDRICK1,2*, PASCHAL J. RUGGAJO2,3,GYAVIIRA MAKANGA3, CHARLES K. SHIJA3, MIKAEL. AMDEMARIAM3, BELSON RUGWIZAGONGA4 and JAMES N. KITINYA4. 1Department of ...

  3. 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.

  4. Barr-Shaver-Carr Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Mohammad Reza Kalantar Hormozi

    2010-04-01

    Full Text Available There are different subtypes of Kline Felter syndrome which 48, XXXY is called Barr-Shaver-Carr syndrome. We present a 17 years old man who referred due to absence of puberty, micro penis decreased Intelligence quotient and also some other sign and symptoms. The presented case stresses performing of kariotype examination (chromosome analysis in the evaluation of patient with such problems.

  5. Mirizzi syndrome associated with hepatic artery pseudoaneurysm: a case report

    Directory of Open Access Journals (Sweden)

    Anderson Oliver

    2008-11-01

    Full Text Available Abstract Introduction This is the first case report of Mirizzi syndrome associated with hepatic artery pseudoaneurysm. Case presentation A 54-year-old man presented with painful obstructive jaundice and weight loss. Computed tomography showed a hilar mass in the liver. Following an episode of haemobilia, angiography demonstrated a pseudoaneurysm of a branch of the right hepatic artery that was embolised. At surgery, a gallstone causing Mirizzi type II syndrome was found to be responsible for the biliary obstruction and a necrotic inflammatory mass and haematoma were found to be extending into the liver. The mass was debrided and drained, the obstructing stones removed and the bile duct drained with a t-tube. The patient made a full recovery. Conclusion This case highlights another situation where there may be difficulty in differentiating Mirizzi syndrome from biliary tract cancer.

  6. Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome: a case report

    Directory of Open Access Journals (Sweden)

    He Anguang

    2011-09-01

    Full Text Available Abstract Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.

  7. Recurrent hydramnios as a result of fetal Bartter′s syndrome (a case report.

    Directory of Open Access Journals (Sweden)

    Shah M

    1991-04-01

    Full Text Available Bartter′s syndrome has been reported as a rare case of hydramnios. A unique case of recurrent hydramnios in pregnancy as a result of fetal Bartter′s syndrome on both occasions is presented.

  8. Wolf–Hirschhorn syndromea case report

    Directory of Open Access Journals (Sweden)

    Halyna Bulak

    2017-06-01

    Full Text Available Wolf–Hirschhorn syndrome is a severe genetic condition that affects many systems of the human body. The genetic mechanism is based on the deletion of the distal portion of the short arm of chromosome 4 (4p. Individuals affected by the syndrome have a special phenotype: wide bridge of the nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss and severe intellectual disability. The patient from our case report was hospitalised at the Lviv City Children’s Hospital at the age of six hours in a severe condition, with distinctive features of a genetic syndrome, which was connected with intraventricular haemorrhage. At the age of three months, he showed delayed physical and neurocognitive development and a characteristic appearance, which led to a specialist consultation to diagnose the genetic disease. This time, on the basis of clinical, laboratory and instrumental findings, the boy was diagnosed with Wolf–Hirschhorn syndrome.

  9. A rare case of short stature: Say Meyer syndrome

    OpenAIRE

    Karthik, T. S.; Prasad, N. Rajendra; Rani, P. Radha; Maheshwari, Rushikesh; Reddy, P. Amaresh; Chakradhar, B. V. S.; Menon, Bindu

    2013-01-01

    Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was...

  10. Mesothelioma of the testis and nephrotic syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Bacchetta Justine

    2009-06-01

    Full Text Available Abstract Introduction Paraneoplastic glomerulopathies are rare manifestations of neoplastic disease to be distinguished from iatrogenic renal damage. Solid tumors are preferentially associated with membranous nephropathy, whereas Hodgkin's lymphomas are associated with minimal change disease. Case presentation We report a 63-year-old Caucasian male diagnosed with a mesothelioma of the tunica vaginalis testis who, secondary to this, also presented with a nephrotic syndrome due to minimal change disease. In the present case, the paraneoplastic etiology of the nephrotic syndrome can be discussed on four unusual elements: minimal change lesions were found; the glomerulopathy was very sensitive to corticosteroids; the nephrotic syndrome occurred 11 months after the diagnosis of the primary malignancy, but concomitantly with the recurrence; and the nephrotic syndrome did not decrease with tumor control and did not recur when the mesothelioma escaped treatment. No other etiologies could nevertheless explain this phenomenon. Conclusion Paraneoplastic nephrotic syndrome is often associated with membranous nephropathy in patients with solid tumors, especially in patients with lung and gastrointestinal tract neoplasia. The management of these patients is associated with a symptomatic treatment such as sodium and water restriction, diuretics and ACE inhibitors and a prophylaxis of specific complications of nephrotic syndrome including thromboembolism, infections and lipid abnormalities. Treatment of neoplasia must be undertaken rapidly, treatments must be regularly analyzed and drugs binding to albumin may be used with precaution.

  11. Refeeding syndrome in adults with celiac crisis: a case report.

    Science.gov (United States)

    Hammami, Sonia; Aref, Houda Lazreg; Khalfa, Messouda; Kochtalli, Ines; Hammami, Mohamed

    2018-01-31

    Refeeding syndrome is a rare and life-threatening pathology with polyvisceral manifestations occurring in severely malnourished patients. It is rarely described in adults with celiac disease. We report the case of a 28-year-old Tunisian woman followed up for celiac disease, who did not adhere to the gluten-free diet. She presented to our hospital with celiac crisis manifested by severe diarrhea, and metabolic and electrolyte disturbances. The treatment of electrolyte abnormalities, hydration, and nutritional support was marked by the occurrence on the fifth day of refeeding syndrome with psychomotor agitation followed by respiratory distress and a state of cardiogenic shock. Refeeding syndrome is still under-recognized. It should be systematically prevented for high-risk patients. Nutritional support in patients with celiac crisis should be monitored carefully since the risk of refeeding syndrome is very high with a poor prognosis.

  12. 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.

  13. Ischemic Stroke in Williams-Beuren Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Wei-Der Lee

    2009-04-01

    Full Text Available A 15-year-old girl was admitted because of an acute onset of facial palsy and right hemiparesis. The patient had a history of moderate mental retardation and developmental delay. On admission, her vital signs were stable, except for high blood pressure. Magnetic resonance imaging demonstrated an infarct involving the left internal capsule and putamen. Because of the patient's young age, an extensive stroke survey was performed. Williams-Beuren syndrome was finally confirmed by fluorescent in situ hybridization. Compared with the previously reported cases, no evidence of cerebral arterial stenosis or cardiac abnormalities was found by noninvasive imaging techniques. Because Williams-Beuren syndrome is a complex, multiple congenital anomaly syndrome with prominent cardiovascular features, regular assessment and antihypertensive treatment are necessary to minimize the lifelong cardiovascular risk in patients with this syndrome.

  14. Fahr’s syndrome and idiopathic hypoparathyroidism: A case report

    Directory of Open Access Journals (Sweden)

    Marinković Dejan M.

    2017-01-01

    Full Text Available Introduction. Fahr´s syndrome is a rare, slowly progressive, neurodegenerative disorder, characterised by extensive, bilateral, and symmetrical basal ganglia calcification. It is associated with neuropsychiatric manifestations and gradually progressive cognitive impairment. Fahr's syndrome is the secondary form of brain calcification that is caused by various metabolic, infectious, or degenerative diseases. Case report. We presented a middle-aged male with Fahr's syndrome due to primary idiopathic hypoparathyroidism. Clinical diagnosis was based on signs and symptoms of hypocalcemia, progressive neuropsychiatric illnesses, laboratory evidence of hypoparathyroidism, and radiological signs of calcifications in the basal ganglia. The patient improved after only a few days of intravenous rehydration and calcium substitution, followed by oral supplemental calcitriol. Conclusion. Timely recognition of idiopathic and iatrogenic hypoparathyroidism allows appropriate treatment that can prevent the development and clinical manifestations of Fahr´s syndrome and potentially slow its progression.

  15. A Case Report of Proteinuria with Sjogren's Syndrome

    Directory of Open Access Journals (Sweden)

    Jong-jin Jeong

    2008-12-01

    Full Text Available Objective : Sjogren's Syndrome is a chronic inflamatory disorder characterized by lymphocytic infiltration of lacrimal and salivary gland. It may be associated with renal disease such as tubulonephritis or glomerulonephritis. Proteinuria is a kidney disorder resulting in an abnormally high amount of protein in the urine. When the glomeruli are damaged, proteins of various sizes pass through them and are excreted in the urine. This report is a case of proteinuria with Sjogren's Syndrome. Methods : The patient was diagnosed as kidney yang deficiency syndrome and treated with Woogyu-eum, Sa-am acupuncture therapy and bee venom acupuncture therapy. Visual Analog Scale was used to estimate the clinical symptoms. Results : Clinical symptoms and proteinuria were improved without steroid therapy. Conclusion Therefore, we concluded that oriental medical therapy may be useful to treat proteinuria with Sjogren's Syndrome.

  16. Dental management of patient with Williams Syndrome - A case report.

    Science.gov (United States)

    Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

    2015-01-01

    Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

  17. Anton's syndrome due to cerebrovascular disease: a case report

    Directory of Open Access Journals (Sweden)

    Maddula Mohana

    2009-09-01

    Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

  18. Syncope as initial symptom for nephrotic syndrome: a case report

    Science.gov (United States)

    Wu, Xuemei; Wang, Guangliang; Feng, Jiachun

    2015-01-01

    Although syncope and nephrotic syndrome are frequently encountered independently in pediatric practice, syncope as the initial symptom for nephrotic syndrome is rarely observed in the pediatric age group. In this report, we present the case of 3-year-old boy with nephrotic syndrome who presented with a history of three episodes of syncope before admission. The syncope occurred after excessive fluid loss or inadequate intake of fluids and was relieved spontaneously. History taking revealed that the early morning palpebral edema, and laboratory tests showed decreased plasma protein levels and elevated serum lipid levels. Nephrotic syndrome was diagnosed, but could not be confirmed histopathologically because the patient’s parent refused consent for biopsy. The patient was managed with fluid expansion, correction of acidosis, and improvement of microcirculation to prevent recurrence of syncope, and glucocorticoids were administered to prevent disease progression. PMID:26629237

  19. Lance-Adams syndrome: A special case of a mother.

    Science.gov (United States)

    Nigam, Gaurav Bhaskar; Babu, Sachin Suresh; Peter, C Sudhir; Peter, C Shobhna

    2016-09-01

    Predicting the neurological outcome in survivors of cardiorespiratory arrest is difficult. A distinction has been made between acute and chronic posthypoxic myoclonus, called myoclonic status epilepticus and Lance-Adams syndrome (LAS), respectively, with the acute condition carrying a bad prognosis. Here, we report a case of a 37-year-old female who developed seizures after a successful cardiopulmonary resuscitation. The available literature on such cases is very rare and has generally mentioned a poor outcome. However, our patient was successfully managed and showed clinical features of LAS. Thus, making an early diagnosis and proper management of hypoxic brain insults is positively related to improving the patient's functional outcome.

  20. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

    Science.gov (United States)

    Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

    2017-01-01

    Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…

  1. Prenatal diagnosis of Caudal Regression Syndrome : a case report

    Directory of Open Access Journals (Sweden)

    Celikaslan Nurgul

    2001-12-01

    Full Text Available Abstract Background Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Case presentation We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. Conclusion Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.

  2. Churg-Strauss syndrome associated with AA amyloidosis: a case ...

    African Journals Online (AJOL)

    Churg Strauss syndrome is a rare systemic and pulmonary vasculitis exceptionally associated with AA amyloidosis. We report the case of a 65-year old woman with past medical history of asthma. She developed polyarthralgia, headache and purpura. A laboratory workout found hypereosinophilia (1150/μL), positive ...

  3. A case of phace syndrome and acquired hypopituitarism?

    Directory of Open Access Journals (Sweden)

    Denzer Friederike

    2012-06-01

    Full Text Available Abstract Background PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large “segmental” facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies. Case vignette We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency. Conclusions This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.

  4. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  5. Ortner’s syndrome: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Bruno Landim Dutra

    2015-08-01

    Full Text Available AbstractThe authors report the case of a 55-year-old female, hypertensive, smoker patient presenting with dysphonia, dysphagia and persistent dry cough. Laryngoscopy diagnosed left vocal cord paralysis. Computed tomography demonstrated saccular aneurysm of the inferior wall of the aortic arch, stretching the left recurrent laryngeal nerve, a finding compatible with Ortner’s syndrome.

  6. A particular case of deafness-oligodontia syndrome.

    Science.gov (United States)

    Marlin, S; Denoyelle, F; Busquet, D; Garabedian, N; Petit, C

    1998-06-01

    Two previous case reports described two sibs affected with both sensorineural hearing loss and oligodontia. Here, we report a similar syndrome in a male patient with an, as yet, undescribed vestibular aqueduct enlargement on tomodensitometry. The analysis of the parent's audiograms is consistent with the suggested autosomal recessive mode of inheritance of this disorder.

  7. Ectopic decidual reaction mimicking irritable bowel syndrome: a case report.

    Directory of Open Access Journals (Sweden)

    Soraya Salehgargari

    2014-01-01

    Full Text Available Ectopic decidualization with gross involvement of the peritoneum is one of the rare findings in pregnant women particularly when ectopic decidualization disseminated as an asymptomatic intra-abdominal nodule. We present here a case of an ectopic decidualization in a 33-year-old pregnant woman with symptoms of irritable bowel syndrome during pregnancy.

  8. A case of Kartagener syndrome with rhinolalia clausa | Raoufi | Pan ...

    African Journals Online (AJOL)

    Kartagener syndrome is an autosomal recessive genetic ciliary disorder comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. It's the one of primary ciliary dyskinesia disorders with manifestations present from childhood. Most patients of PCD have situs inversus. We present a case of 18 year-old women ...

  9. Concurrent insulinoma with mosaic Turner syndrome: A case report.

    Science.gov (United States)

    Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

    2015-03-01

    Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

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

    Science.gov (United States)

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

    2016-01-01

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

  11. Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case ...

    African Journals Online (AJOL)

    Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case report and literature ... skin over the right leg from the knee joint up to the middle of the right foot. ... Examination indicated no signs of child abuse; the parents refused an ...

  12. Psychogenic Foreign Accent Syndrome: a new case

    Directory of Open Access Journals (Sweden)

    Stefanie eKeulen

    2016-04-01

    Full Text Available This paper presents the case of a 33-year-old, right-handed, French-speaking Belgian lady who was involved in a car accident as a pedestrian. Six months after the incident she developed a German/Flemish-like accent. The patient’s medical history, the onset of the FAS and the possible psychological causes of the accent change are analyzed. Relevant neuropsychological, neurolinguistic and psychodiagnostic test results are presented and discussed. The psychodiagnostic interview and testing will receive special attention, because these have been underreported in previous FAS case reports. Furthermore, an accent rating experiment was carried out in order to assess the foreign quality of the patient’s speech. Pre- and post-morbid spontaneous speech samples were analyzed phonetically to identify the pronunciation characteristics associated with this type of FAS. Several findings were considered essential in the diagnosis of psychogenic FAS: the psychological assessments as well as the clinical interview confirmed the presence of psychological problems, while neurological damage was excluded by means of repeated neuroimaging and neurological examinations. The type and nature of the speech symptoms and the accent fluctuations associated with the patient's psychological state cannot be explained by a neurological disorder. Moreover, the indifference of the patient towards her condition may also suggest a psychogenic etiology, as the opposite is usually observed in neurogenic FAS patients.

  13. A case report of acute myelogenous leukemia with Turner Syndrome.

    Science.gov (United States)

    Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

    2017-09-01

    Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

  14. Mermaid Syndrome: A Case Report in Mauritius

    Science.gov (United States)

    Mejias, Stephanie G; Ramphul-Sicharam, Yogeshwaree

    2018-01-01

    Sirenomelia is a rare congenital malformation that results in the fusion of the lower limbs together with multiple visceral anomalies. We report a case of sirenomelia observed in Mauritius and the different findings seen in the baby. The baby had fused lower extremities and bony structures for each leg were present. The umbilical cord consisted of a single artery and one vein. The external genitalia was absent and an imperforate anus was also seen. An x-ray revealed poorly expanded lungs and two distinct sets of femur and tibia were seen on imaging. However, a fused fibula and a fused talus were also noted. Multiple theories have been suggested for the pathogenesis of this condition, and despite recent progress in pathology, this condition remains debated. PMID:29686952

  15. Granulomatous slack skin syndrome: Report of a unique case.

    Science.gov (United States)

    Maheswari, S Uma; Sampath, V; Ramesh, A

    2018-01-01

    Granulomatous slack skin syndrome is a rare variant of cutaneous T-cell lymphoma (mycosis fungoides). It is characterized clinically by redundant skin folds, which show a predilection towards flexural areas such as the axilla and the groin. Histologically, it shows a granulomatous T-cell infiltrate and loss of elastic tissue. It has an indolent but progressive course; and is usually refractory to treatment. We report a unique case of slack skin syndrome, sparing the classical sites with rapid and unusual involvement of non-intertriginous areas.

  16. [Cotard's syndrome: Case report and a brief review of literature].

    Science.gov (United States)

    Moschopoulos, N P; Kaprinis, S; Nimatoudis, J

    2016-01-01

    The term "Cotard's syndrome" is used to describe a number of clinical features, mostly hypochondriac and nihilistic delusions, the most characteristic of which are the ideas "I am dead" and "my internal organs do not exist". Besides, anxious and depressed mood, delusions of damnation, possession and immortality, suicidal and self-mutilating behavior are included. The first description of the syndrome was made in 1880 by Cotard, who presented the case of a female patient in a lecture. He originally named it "hypochondriac delusion", and some years later "delusion of negations", while it was named "Cotard delusion" after his death. In international literature, the terms "nihilistic delusion" and "Cotard's syndrome" prevailed over "delusion of negations" and "Cotard delusion". In the present study we report the case of a 59 year-old woman, who was admitted to our department after a suicide attempt, and who showed symptoms of Cotard's syndrome for about two years, namely depressed mood, hypochondriac and nihilistic delusions, delusions of immortality and damnation, suicidal ideation, severe psychomotor retardation, diminished motivation and tendency to stay in bed. She never took the medication she was prescribed, and at times she refused to eat. During her hospitalization, there was performed a full blood panel and medical imaging, that showed chronic ischemic infarctions, periventricular leukoencephalopathy and diffuse cerebral atrophy in MRI. All the other test results were normal. She was administered treatment with haloperidol, mirtazapine and venlafaxine. Gradually, her psychomotor ability, motivation and mood improved, she didn't express suicidal ideation, her delusions were less intense and she was able to question them, but they weren't eliminated. She was discharged in improved condition, after 44 days. Cotard's syndrome isn't mentioned in the current classification systems (ICD-10, DSM-5). In literature though, it has been divided into three types, according

  17. Cronkhite-Canada Syndrome (CCS)-A Rare Case Report.

    Science.gov (United States)

    Chakrabarti, Subrata

    2015-03-01

    Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male.

  18. Mills’ syndrome: case report

    OpenAIRE

    Henrique de Gobbi Porto, Fábio; Orsini, Marco; Antônio Araújo Leite, Marco; Moreira dos Santos, José; Pulier, Soraia; Mello, Mariana; Nascimento, Osvaldo J.M.

    2009-01-01

    The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical ...

  19. The neuroradiological findings in a case of Revesz syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    2007-11-15

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

  20. Radiological features of Lemierre's syndrome: A case report

    International Nuclear Information System (INIS)

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

    2001-01-01

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

  1. Aicardi syndrome: a case report and radiologic findings

    International Nuclear Information System (INIS)

    Granzotto, Enrico; Prado, Cecilia Hissae Miyake Almeida; Barros, Andre Della Barba; Botter, Carlos Eduardo; Mendes, Rozana de Miranda; Granzotto, Ticiana

    2008-01-01

    The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)

  2. The neuroradiological findings in a case of Revesz syndrome

    International Nuclear Information System (INIS)

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

    2007-01-01

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

  3. A case of idiopathic intracranial calcifications - Hahr syndrome

    International Nuclear Information System (INIS)

    Georgiev, R.; Balev, B.; Georgieva, M.; Georgiev, J.

    2006-01-01

    Full text: The purpose of the study is to review the clinical manifestation, imaging characteristics and pathophysiology of the Fahr syndrome and to present a case of the Fahr syndrome from our clinic. The Fahr syndrome is a rare neurodegenerative disorder, characterized by seizures, tetany, psychomotor retardation, development of a spastic paralysis, athetosis and parkinson like syndrome. It is inherited by an AR way but in affected families (relatives) an AD way is also possible. Sporadic cases have been known. Recently a possible chromosome locus on 14q was proved. Probably the case in point is a group of anomalies, in which symmetrically and bilaterally significant calcifications in the region of the basal ganglia, dentate nuclei in cerebellum and centrum semiovale are found. It is not clear yet whether these calcifications are a result from a 'metastatic' deposition because of a local destruction of the blood-brain barrier or are due to a disturbance in the neuronic calcium metabolism. The X-ray findings could be accidental in an asymptomatic patient but a progressive development of an extrapyramidal syndrome may be also observed. Our case is a 37 years old woman with seizures with loss of consciousness, convulsions and urine incontinence. The complaints are dated from the age of 5 years old. The X-ray images disclosed striking non-natural calcifications in globus pallidus, putamen, n.caudatus, thalami, n.dentati, cerebellum.The blood test revealed normal serum levels of calcium, phosphorus, alkaline phosphatase. The CT findings put together with the typical clinical history and the normal blood test were a prerequisite for this diagnosis

  4. Guillain-Barre syndrome associated with hemorrhagic fever with renal syndrome in China: a case report.

    Science.gov (United States)

    Jiao, Jie; Wu, Lei; Yin, Jianyuan; Quan, Xiaojiao; Chen, Wei; Hu, Jie

    2018-03-27

    We describe a case of Guillain-Barre syndrome (GBS) associated with hemorrhagic fever with renal syndrome. To our knowledge, only five cases of GBS associated with Hantavirus infection have been reported so far. A 62-year-old man presented intermittent fever, chill and oliguria. According to remarkable leukocytosis, atypical lymphocytes, thrombocytopenia and former dwelling in hemorrhagic fever-endemic area, he was suspected as hemorrhagic fever with renal syndromeand certified with positive Hantavirus IgG. Later, the patient had symmetrical flaccid paralysis of all extremities. Electromyography showed peripheral nerve injury (mainly in axon). The patient was diagnosed as having acute motor sensory axonal neuropathy (AMSAN). After immunoglobulin infusion, patient showed progressive recovery and was transferred 3 weeks after his first admission to a rehabilitation center. Our case was the 6th reported case of GBS associated with hemorrhagic fever with renal syndrome. Moreover, we for the first time classified the subtype of GBS (AMSAN) based on the electrophysiology characteristics. GBS should be suspected in patients who are already diagnosed as hemorrhagic fever with renal syndrome when delayed symmetrical limb paralysis occurs. Until recent now, GBS was only reported in hemorrhagic fever patients in Europe and Asia, which termed as hemorrhagic fever with renal syndrome.

  5. Ramsay Hunt syndrome in a child – case report

    Directory of Open Access Journals (Sweden)

    Joanna Grabowska

    2016-12-01

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

  6. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

    Science.gov (United States)

    Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

    2018-04-01

    The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

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

    Directory of Open Access Journals (Sweden)

    Vaishali Kuchewar

    2017-01-01

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

  8. Joubert Syndrome: Imaging Features and Illustration of a Case

    International Nuclear Information System (INIS)

    Arora, Richa

    2014-01-01

    Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in both lower limbs, ataxia and abnormal facies and diagnosed on Computed Tomography. Joubert Syndrome should be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression

  9. Early orthodontic management of Crouzon Syndrome: a case report.

    Science.gov (United States)

    Hlongwa, P

    2009-03-01

    Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia and occasional upper airway obstruction.The case of a 7-year-old South African black boy with Crouzon Syndrome is presented. He presented with characteristic triad of cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, cephalometric features and initial orthodontic management of this patient are discussed as part of multidisciplinary management.

  10. A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

    Science.gov (United States)

    von Elten, Kelley; Sawyer, Taylor; Lentz-Kapua, Sarah; Kanis, Adam; Studer, Matthew

    2013-06-01

    Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.

  11. Cataract surgery in Knobloch syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Bongiovanni CS

    2011-06-01

    Full Text Available Carmen Sílvia Bongiovanni1, Carla Cristina Serra Ferreira1, Ana Paula Silvério Rodrigues1, João Borges Fortes Filho2, Márcia Beatriz Tartarella11Department of Ophthalmology, Congenital Cataract Section, Medical School, Federal University of São Paulo, São Paulo; 2Department of Ophthalmology, Medical School, Federal University of Rio Grande do Sul, Porto Alegre, BrazilAbstract: Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.Keywords: Knobloch syndrome, cataract, phacoemulsification, vitreous, right eye, left eye, genetic

  12. Silent Sinus Syndrome: A Retrospective Review of 11 Cases

    Directory of Open Access Journals (Sweden)

    Karima DARGHAL

    2014-06-01

    Full Text Available Objective: The purpose of this study is to describe the clinical and radiological features of SSS, and to review therapeutic possibilities and their outcomes.Patients and Methods: Retrospective observational case series in the department of Arthur Vernes Institute between Mars 2007 and  Novembre 2012. Clinical records, including ophthalmology and otolaryngology evaluations as well as computed tomography scans and operative reports, were carefully examined. A literature review for relevant studies was performed to examine similar cases.Results: Eleven cases of  SSS were identified. Nine men and two women (sex ratio 4.5, aged between 23 and 54 years (mean, 30 years. there was 3 to 4 mm enophthalmos in 10 cases (90.9%, and hypoglobus in all cases, with no effect on visual function. In all 11 cases, the maxillary roof (orbital floor was drawn downwards, and the one or more walls of the maxilla were concave. In 4 cases septal deviation was present. 8 patients (72.7% underwent endoscopic sinus surgery, while 3 refused it. Septoplasty was performed in 4 cases (36.3%.Conclusion: The silent sinus syndrome is a rare entity. It mainly presents as unilateral enophthalmos in younger people and has very characteristic clinical and radiologic signs.This case series reports our diagnostic and therapeutic experience with this syndrome.

  13. An Unusual Os Trigonum Syndrome Case Secondary to Car Accident: A Case Report

    Directory of Open Access Journals (Sweden)

    Safer

    2016-03-01

    Full Text Available Introduction The os trigonum syndrome is a common cause of posterior ankle pain, often affecting ballet dancers, soccer players, runners and gymnasts who frequently force the ankle into plantar flexion. In rare cases, onset of the os trigonum syndrome followed an acute injury. Case Presentation A 62-year-old female patient was admitted with load depended ankle pain and swelling, lasting for five years which promptly started after a car accident. We incidentally discovered os trigonum on plain radiography on a lateral view of the right ankle. Conclusions The os trigonum syndrome should take in consideration in elderly subject who had posterior ankle pain starting after a car accident.

  14. Foreign Accent Syndrome Secondary to Medication Withdrawal: A Case Report

    Directory of Open Access Journals (Sweden)

    Michael J. Schuh

    2017-08-01

    Full Text Available Objective: The purpose of this case report is to demonstrate a possible alternative etiology related to dopamine may exist for foreign accent syndrome (FAS. Methods: A 79-year-old, 205 pound, Caucasian woman originally presented to the department of Neurology for treatment and subsequently to the pharmacist pharmacotherapy service for evaluation of bilateral upper extremity tremor of high amplitude but was found to also exhibit FAS. Discussion: This case report contributes to the limited literature regarding foreign accent syndrome and adds to the few case reports of psychogenic origin, as opposed to the majority, which are of neurogenic origin. This also represents the first case that seems related to withdrawal of medication rather than psychotic exacerbation and ranks a six on the Naranjo algorithm. Conclusion: FAS is a rare disorder and little is understood about it. This case presentation also suggests that chronic use of high-dose dopamine and/or anticholinergic agents may alter pathways in the brain, which in this case, may have potentially contributed to the development of FAS. There remain many unanswered questions regarding FAS, but hopefully more clarity may be found as more cases are discovered and published. Conflict of Interest I declare no conflicts of interest or financial interests that the authors or members of their immediate families have in any product or service discussed in the manuscript, including grants (pending or received, employment, gifts, stock holdings or options, honoraria, consultancies, expert testimony, patents and royalties.   Type: Case Study

  15. Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report.

    OpenAIRE

    Farideh Keypour; Ilana Naghi; Babak Behnam

    2013-01-01

    A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.

  16. Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome: A Case Report.

    Directory of Open Access Journals (Sweden)

    Farideh Keypour

    2013-03-01

    Full Text Available A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.

  17. Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report.

    Science.gov (United States)

    Keypour, Farideh; Naghi, Ilana; Behnam, Babak

    2013-03-01

    A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.

  18. Waardenburg Syndrome: A Case Study of Two Patients.

    Science.gov (United States)

    Sharma, Karan; Arora, Archana

    2015-09-01

    Waardenburg syndrome is an autosomal dominant disorder with an incidence of 1 in 40,000 that manifests with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects of neural crest-derived tissues. This genetically heterogeneous disease accounts for >2 % of the congenitally deaf population. Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes can cause Waardenburg syndrome. We here report a case of 12 year old female who presented with chief complaint of decreased hearing in both ears and had clinical features consistent with Waardenburg syndrome. She had a distinct white forelock of hair in the midline along with striking bilateral blue iris. Also a white depigmented patch was present on the right forearm. Both eyes had bright red fundal reflex with choroidal depigmentation. Her younger brother, the second case in this study, had similar blue eyes, white forelock of hair, depigmented skin patch and choroidal depigmentation but with normal hearing. Their father had a history of premature graying of hair. All the primary care physicians coming across a child with blue eyes and white forelock of hair should get the child's hearing tested at the first instance, if not already tested. An early diagnosis and improvement of hearing impairment with timely intervention are the most important for psychological and intellectual development of children with Waardenburg syndrome.

  19. Gorlin and goltz syndrome: a case report with surgical review.

    Science.gov (United States)

    Namdeoraoji Bahadure, Rakesh; Surendraji Jain, Eesha; P Badole, Gautam

    2013-05-01

    Gorlin and Goltz syndrome are a very complex syndrome and a multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falx cerebri. Along with these major features a great number minor features have also been described which involves numerous skeletical, dermatology related, neurological, ophthalmological and reproductive anomalies. It exhibits high penetrance and variable expressivity. Presented here is the case of Gorlin-Goltz in a 12 years old male patient which was diagnosed through its oral and maxillofacial manifestations. Treatment of odontogenic keratocyst was done by enucleation without primary suturing. Iodoform dressing was kept to enhance the healing and to reduce the recurrence of the lesion. It is important to provide the early diagnosis for detection of clinical and radiological manifestations in young patients and for provision of advice concerning preventive treatment like protection of the skin from the sunlight and genetic sensitivity testing so that possible complications associated with this syndrome can be prevented. How to cite this article: Bahadure RN, Jain ES, Badole GP. Gorlin and Goltz Syndrome: A Case Report with Surgical Review. Int J Clin Pediatr Dent 2013;6(2):104-108.

  20. Prenatal diagnosis of Neu-Laxova syndrome: a case report

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    Polat Ibrahim

    2002-02-01

    Full Text Available Abstract Background Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. We report a case of Neu-Laxova syndrome (NLS diagnosed prenatally by ultrasound examination. Case presentation A 29-year-old gravida 3, para 2 woman was first seen in our antenatal clinic at 38 weeks' pregnancy. Except for the consanguinity and two previous abnormal stillborn babies her medical history was unremarkable. On ultrasound examination microcephaly, flat forehead, micrognathia, intrauterine growth restriction, generalized edema of the skin, hypoplastic chest, excessive soft tissue deposition of hands and feet, joint contractures and a penis without scrotal sacs were detected. She delivered a 2000 g male fetus. He died five minutes after delivery. Postmortem examination confirmed the diagnosis of Neu-Laxova syndrome. Conclusion Because of the autosomal recessive inheritance of Neu-Laxova syndrome genetic counseling and early-serial ultrasound examination should be performed at risk families. Early diagnosis of the disease may offer termination of the pregnancy as an option.

  1. Anophthalmia-Waardenburg syndrome: a report of three cases.

    Science.gov (United States)

    Suyugül, Z; Seven, M; Hacihanefioğlu, S; Kartal, A; Suyugül, N; Cenani, A

    1996-04-24

    We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.

  2. Menkes syndrome: report of a case and review

    International Nuclear Information System (INIS)

    Sancho, B.; Villanua, J.A.; Almeida, M.; Olondo, M.L.; Nogues, A.; Recondo, J.A.

    1995-01-01

    Menkes' syndrome is a complex disorder of the copper metabolism that is transmitted as a X-linked recessive trait. Among the clinical signs are progressive psycho motor retardation, myoclonic seizures and kinky hair. We present a new case of this disease, describing the most characteristics radiological findings, especially the symmetrical skeletal changes, marked neuro degenerative changes and vascular changes (arterial elongation and tortuosity). The laboratory tests for the definitive diagnosis showed a decrease in the plasma copper and ceruloplasmin levels. 16 refs

  3. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

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    Irene Berges-Raso

    2017-09-01

    Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

  4. A Case of Femoral Fracture in Klippel Trenaunay Syndrome

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    Sam Nahas

    2014-01-01

    Full Text Available We present a case of Klippel Trenaunay syndrome (KTS who presented with severe bilateral knee osteoarthritis (OA. Preoperative planning was commenced for a total knee replacement (TKR. Whilst on the waiting list the patient suffered a fall and sustained a complete femoral diaphysis fracture. Conservative management in the form of skin traction was initially chosen as significant extra- and intramedullary vascular malformations posed an increased risk of perioperative bleeding. This failed to progress to union, and so open reduction and internal fixation was performed. This subsequently resulted in on-going delayed union, which was subsequently managed with low intensity pulsed ultrasound (LIPUS, otherwise known as Exogen (Bioventus. exogen. Secondary exogen, 2012. There are only two previous documented cases of femoral fracture in KTS. This is the first report of a patient with this rare syndrome receiving this treatment. We discuss the management of fracture in this challenging group of patients.

  5. Anthracyclines and Acquired Long QT Syndrome. A Case Report

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    Carlos Rodríguez Armada

    2014-12-01

    Full Text Available Acquired long QT syndrome results from secondary causes and can be caused by more than 100 non-antiarrhythmic drugs. Cardiac arrest due to Torsades de pointes induced by drugs causing prolonged QT syndrome is a rare but potentially fatal event, even in hospitals. The case of a 47-year-old patient diagnosed with non-Hodgkin lymphoma admitted to the hematology department of the Dr. Gustavo Aldereguía Lima University General Hospital in Cienfuegos is presented. The patient had been previously treated with anthracyclines and developed episodes of palpitations and syncope later. The treatment included monitoring the patient, avoiding other QT prolonging agents and administrating magnesium sulfate and potassium chloride with a proper maintenance of the fluid and acid-base balance. The presentation of this case aims at motivating interest in new reports on the subject and establishing a direct causal relationship through the evidence provided by new experiences.

  6. Guillain Barre Syndrome Following Traumatic Brain Injury: A Rare Case

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    Kirac Unal

    2016-06-01

    Full Text Available Introduction Guillain-Barre syndrome (GBS is an immune-mediated acute inflammatory disorder of the peripheral nervous system. Infectious agents were usually accused of playing a role in the etiology of GBS. Guillain-Barre syndrome has rarely been reported following subdural and subarachnoid hemorrhage after head trauma. Case Presentation We report on a 63-year-old male patient presenting GBS following Traumatic Brain Injury (TBI. Only five other similar cases are described in the literature. Conclusions Sudden onset of GBS symptoms following trauma may erroneously be assessed as secondary complications of the TBI and can lead to unnecessary procedures such as computerized tomography (CT scan and magnetic resonance imaging (MRI for a definitive diagnosis and may be a waste of time.

  7. Oro-facial-digital syndrome Type 1: A case report

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    Kanika Singh Dhull

    2014-01-01

    Full Text Available Oro-Facial Digital Syndrome (OFDS is a generic term for group of apparently distinctive genetic diseases that affect the development of the oral cavity, facial features, and digits. One of these is OFDS type I (OFDS-I which has rarely been reported in Asian countries. This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth.

  8. Hemorrhagic shock and encephalopathy syndrome: a case report

    International Nuclear Information System (INIS)

    Yoon, Sook Ja; Choi, Yun Sun; Shin, Chung Ho; Cho, Sung Bum; Cho, Jae Min; Kim, Hyun Sook; Han, Tae Il; Yoon, Yong Kyu

    2001-01-01

    Hemorrhagic shock and encephalopathy syndrome (HSES) is a sudden-onset symptom complex that involves multisystem failure and includes encephalopathy, shock, coma, convulsions, prerenal azotemia, hepatic dysfunction, and bleeding coagulopathy and progressive thrombocytopenia in previously healthy infants and children. Its radiologic findings have rarely been reported, and it has not been described in Korea. We present a case of clinically diagnosed HSES, and include the CT and MRI findings

  9. Syndromic analysis in child neuropsychology: A case study

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    Solovieva Yu.

    2017-12-01

    Full Text Available Background. Neuropsychology is a science with its own specific concepts, terms, and methods of analysis of disturbances in psychological development. One of the essential concepts of neuropsychological methodology, according to A.R. Luria, is that of a neuropsychological syndrome, which takes into account both the functional organization of the brain and the behavioral system. However, this concept isn’t mentioned in the majority of his publications, and thus is not well known by neuropsychologists. There is no clear understanding of this concept within the works of modern neuropsychologists. This omission has a strong influence on the way analysis and interpretation of developmental difficulties is carried out today. Objective. The objective of this study is to present an example of the successful application of qualitative syndromic analysis to the case of a Mexican preschool child with developmental problems and learning disabilities. Design. The clinical analysis was applied to the case of a 6 year old girl with learning disabilities, whose difficulties had been attributed primarily to a low level of general brain activation. Results. The authors assert that the advantages of A.R. Luria’s syndromic approach to clinical cases of difficulties in development and learning disabilities, are that it opens up the potential for finding the general causes on different levels: neuronal maturation, brain mechanisms, activity and personality. Conclusion. The authors conclude that the topic of syndromic analysis in child neuropsychology requires further scientific discussion. The necessity for revising levels of analysis of clinical cases should be taken in account.

  10. Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

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    Sushma Yalavarthi

    2017-01-01

    Full Text Available The Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH syndrome, simply called Rokitansky syndrome or vaginal aplasia of the uterus, is a congenital condition that is characterized by the absence of the uterus and vagina, but ovaries are present and the external genitalia are normal. It affects at least 1 out of 4500 women. MRKH may be isolated (Type I, but it is more frequently associated with renal, vertebral, and to a lesser extent, auditory and cardiac defects (MRKH Type II or Mullerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies association - mullerian duct aplasia, renal dysplasia, and cervical somite anomalies. There were very few cases of MRKH syndrome reported in the literature. Here, we report two cases of MRKH syndrome, one in a 20-year-old woman who presented with primary amenorrhea (MRKH Type I and the other in a 65-year-old woman with primary amenorrhea and associated renal malformations and a rare ovarian sertoliform variant of endometrioid tumor (MRKH Type II.

  11. MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

    Science.gov (United States)

    Rudnicki, Michael; Mayr, Johannes A; Zschocke, Johannes; Antretter, Herwig; Regele, Heinz; Feichtinger, René G; Windpessl, Martin; Mayer, Gert; Pölzl, Gerhard

    2016-12-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA Leu(UUR) . Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with MELAS mutation, cardiomyopathy, and chronic kidney disease without Fanconi syndrome, proteinuria, or hematuria. While the patient was waitlisted for heart transplantation, her kidney function deteriorated from an estimated glomerular filtration rate of 33 to 20mL/min/1.73m 2 within several months. Kidney biopsy was performed to distinguish decreased kidney perfusion from intrinsic kidney pathology. Histologic examination of the biopsy specimen showed only a moderate degree of tubular atrophy and interstitial fibrosis, but quantitative analysis of the m.3243A>G mitochondrial DNA mutation revealed high heteroplasmy levels of 89% in the kidney. Functional assessment showed reduced activity of mitochondrial enzymes in kidney tissue, which was confirmed by immunohistology. In conclusion, we describe an unusual case of MELAS syndrome with chronic kidney disease without apparent proteinuria or tubular disorders associated with Fanconi syndrome, but widespread interstitial fibrosis and a high degree of heteroplasmy of the MELAS specific mutation and low mitochondrial activity in the kidney. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  12. Adrenocortical oncocytic neoplasm presenting with Cushing's syndrome: a case report

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    Kabayegit Ozlem

    2008-07-01

    Full Text Available Abstract Introduction Oncocytic neoplasms occur in several organs and are most commonly found in the thyroid, kidneys and salivary glands. Oncocytic neoplasms of the adrenal cortex are extremely rare and are usually non-functioning. Case presentation We report the case of an adrenocortical oncocytic neoplasm with uncertain malignant potential in a 31-year-old man with Cushing's syndrome. The patient had been operated on following diagnosis of a 7 cm adrenal mass. Following surgery, the Cushing's syndrome resolved. The patient is still alive with no metastases one year after the surgery. Conclusion Adrenocortical oncocytic neoplasms must be considered in the differential diagnosis of both functioning and non-functioning adrenal masses.

  13. [Psychosis Associated With Fahr's Syndrome: A Case Report].

    Science.gov (United States)

    Cassiani-Miranda, Carlos Arturo; Herazo-Bustos, Mariana; Cabrera-González, Armando; Cadena-Ramos, Ivan; Barrios-Ayola, Francisco

    2015-01-01

    Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. Case report. The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient. Copyright © 2015 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  14. Cruveilhier-Baumgarten syndrome. Radiologic findings in a case report

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    Hofmann, E; Wimmer, B; Noeldge, G; Friedburg, H; Strunk, H

    1988-11-01

    Marked portosystemic venous anastomosis of the parumbilical veins is referred to as the Cruveilhier-Baumgarten syndrome. Opening of these vessels has been described mainly in the sonographic literature. In this case report CT and MR findings are presented, which have been confirmed by angiography. This paper is intended to draw the radiologist's attention to dilatation of the parumbilical veins, which is a highly specific sign of portal hypertension resulting from intrahepatic blockage.

  15. Sheehan’s Syndrome: A Case Report and Literature Review

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    S Errarhay

    2009-01-01

    Full Text Available Post-partum pituitary necrosis (Sheehan’s syndrome is a rare complication of post-partumhemorrhage. The diagnosis can be erratic and often delayed. In this case report of Sheehan’ssyndrome in the post-partum period, the signs were characterized by agalactia, severe hypoglycemia,and low serum levels of thyroid hormones, cortico-adrenal hormones, and gonadotrophin (FSH, LH.The hypophyseal magnetic resonance imaging confirmed the diagnosis of hypopituitarism secondaryto pituitary necrosis.

  16. Prune belly syndrome: A report of 15 cases from Sudan.

    Science.gov (United States)

    Kheir, Abdelmoneim E M; Ali, Eltigani M A; Medani, Safaa A; Maaty, Huda S

    2017-01-01

    Prune belly syndrome is a rare congenital malformation of unknown aetiology, composed of a triad of deficient abdominal wall muscle, cryptorchidism and urinary tract anomalies. The majority of patients have associated pulmonary, skeletal, cardiac, and gastrointestinal defects. This was a prospective, case finding study that was conducted in the main paediatric hospitals in Khartoum state, during the period December 2015 to September 2016. A total of 15 patients with prune belly syndrome were collected. Patients' characteristics were noted including socio-demographic data, laboratory and radiological investigations and any medical or surgical intervention. There were 12 males and 3 females with a male to female ratio of 4:1. Most of the patients (80%) had hydronephrosis and hydroureter. The study revealed that 60% of the patients had associated anomalies, there were 4 (26.6%) with cardiac defects, 3 (20%) with orthopaedic defects one patient with small bowel volvulus and one patient with cleft lip. 6 (40%) patients received medical intervention and 8 (53%) patients underwent surgical procedures. At the last follow up visit, 2 (13.4%) patients had normal renal function tests, 8 (53.3%) ended with chronic kidney disease, and 5 died with a mortality rate of 33.3%. Prune belly syndrome is a rare entity with wide variability in severity and clinical manifestations. The mortality in prune belly syndrome remains high despite medical and surgical interventions.

  17. Compartment syndrome after total knee arthroplasty: regarding a clinical case

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    Ana Alexandra da Costa Pinheiro

    2015-08-01

    Full Text Available ABSTRACT Although compartment syndrome is a rare complication of total knee arthroplasty, it is one of the most devastating complications. It is defined as a situation of increased pressure within a closed osteofascial space that impairs the circulation and the functioning of the tissues inside this space, thereby leading to ischemia and tissue dysfunction. Here, a clinical case of a patient who was followed up in orthopedic outpatient consultations due to right gonarthrosis is presented. The patient had a history of arthroscopic meniscectomy and presented knee flexion of 10° before the operation, which consisted of total arthroplasty of the right knee. The operation seemed to be free from intercurrences, but the patient evolved with compartment syndrome of the ipsilateral leg after the operation. Since compartment syndrome is a true surgical emergency, early recognition and treatment of this condition through fasciotomy is crucial in order to avoid amputation, limb dysfunction, kidney failure and death. However, it may be difficult to make the diagnosis and cases may not be recognized if the cause of compartment syndrome is unusual or if the patient is under epidural analgesia and/or peripheral nerve block, which thus camouflages the main warning sign, i.e. disproportional pain. In addition, edema of the limb that underwent the intervention is common after total knee arthroplasty operations. This study presents a review of the literature and signals that the possible rarity of cases is probably due to failure to recognize this condition in a timely manner and to placing these patients in other diagnostic groups that are less likely, such as neuropraxia caused by using a tourniquet or peripheral nerve injury.

  18. Os acromiale causing shoulder impingement syndrome: a case report

    International Nuclear Information System (INIS)

    Romero, I.; Rodriguez, A.; Roca, M.; Garcia, Y.

    2001-01-01

    Shoulder impingement syndrome is caused by repeated mechanical trauma to the rotator cuff due to encroachment of the coracoacromial ligament; in most cases, it is a primary lesion. Os acromiale, an anatomic variant of the shoulder structures, is one of the predisposing factors for the development of this entity. We present a case of os acromiale complicated by complete rupture of the tendon of the supraspinatus muscle and luxation of the long head of the biceps tendon. We stress the importance of magnetic resonance in the study of this anatomic variant and in the detection of complications or associated lesions. (Author) 10 refs

  19. A Case of Postpartum HELLP Syndrome

    LENUS (Irish Health Repository)

    Langhe, R

    2017-11-01

    A 37-year-old primigravida was referred from the antenatal clinic with a provisional diagnosis of pre-eclampsia in view of severe frontal headache, high blood pressure and proteinuria. There was no history of visual disturbance or epigastric pain. The woman was at 30 weeks gestation.

  20. [Asperger syndrome with highly exceptional calendar memory: a case report].

    Science.gov (United States)

    Sevik, Ali Emre; Cengel Kültür, Ebru; Demirel, Hilal; Karlı Oğuz, Kader; Akça, Onur; Lay Ergün, Eser; Demir, Başaran

    2010-01-01

    Some patients with pervasive developmental disorders develop unusual talents, which are characterized as savant syndrome. Herein we present neuropsychological examination and brain imaging (fMRI and brain SPECT) findings of an 18-year-old male with Asperger syndrome and highly unusual calendar memory. Neuropsychological evaluation of the case indicated mild attention, memory, and problem solving deficits, and severe executive function deficits that included conceptualization, category formation, and abstraction. Functional MRI findings showed activation above the baseline level (Psavant syndrome.

  1. Fatal atypical reversible posterior leukoencephalopathy syndrome: a case report

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    Golombeck Stefanie Kristin

    2013-01-01

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

  2. Lowe syndrome: case report

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    Eva Bahor

    2018-03-01

    Full Text Available Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular dysfunction. Lifespan is short due to end-stage renal disease and other earlier complications and it rarely exceeds 40 years. The treatment is symptomatic, aimed at improving the clinical evolution of the patients and postpone the onset of terminal renal disease. The paper describes a case of a boy with Lowe syndrome with a novel genetic mutation.

  3. Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report.

    Science.gov (United States)

    Saad, Laura; Silva, Luiz Fal; Banzato, Claudio Em; Dantas, Clarissa R; Garcia, Celso

    2010-07-20

    Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been an increase in the number of clinical settings in which the disorder is observed. We report the case of a 45-year-old Caucasian woman who arrived at the emergency room presenting signs of marked malnutrition and mental confusion, ataxic gait and ophthalmoplegia. Main laboratory test findings included low serum magnesium and megaloblastic anemia. Brain magnetic resonance imaging revealed increased T2 signal in the supratentorial paraventricular region, the medial regions of the thalamus and the central and periaqueductal midbrain. The diagnosis of Wernicke's encephalopathy was made at once and immediate reposition of thiamine and magnesium was started. The patient had a long history of recurrent thoughts of being overweight, severe self-imposed diet restrictions and self-induced vomiting. She had also been drinking gin on a daily basis for the last eight years. One day after admittance the acute global confusional state resolved, but she presented severe memory deficits and confabulation. After six months of outpatient follow-up, memory deficits remained unaltered. In this case, self-imposed long-lasting nutritional deprivation is thought to be the main cause of thiamine deficiency and subsequent encephalopathy, but adjunct factors, such as magnesium depletion and chronic alcohol misuse, might have played an important role, especially in the development of Korsakoff's syndrome. The co-morbidity between eating disorders and substance abuse disorders has emerged as a significant health issue for women, and the subgroup of patients with

  4. Moebius-Poland syndrome: A case report

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    Mostapha Ahmad

    2012-01-01

    Full Text Available El síndrome de Moebius es una sintomatología poco frecuente en la que los pares craneales sexto y séptimo están involucrados. Esta implicación resulta en parálisis facial. Se han descrito unos 500 casos en la literatura médica mundial y algunos de ellos han recibido tratamiento quirúrgico. Además el síndrome ha recibido otros nombres, tales como aplasia congénita nuclear, aplasia nuclear infantil, parálisis congénita oculofacial y diplejía facial. El síndrome de Poland es otra anomalía congénita muy poco frecuente de la pared torácica, caracterizado por ausencia unilateral parcial o total del músculo pectoral mayor y braquisindactilia ipsilateral. Sin embargo, el síndrome de Moebius-Poland es más raro, ya que el primer caso fue reportado recientemente en el año 2007 por Diego López de Lara et al. En este artículo se presentará este caso poco frecuente, que es una combinación entre ambos síndromes Moebius y Poland en un paciente masculino de tres meses de edad.

  5. Boerhaave syndrome - case report

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    Biljana Radovanovic Dinic

    Full Text Available ABSTRACT CONTEXT: Boerhaave syndrome consists of spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. It generally develops during or after persistent vomiting as a consequence of a sudden increase in intraluminal pressure in the esophagus. It is extremely rare in clinical practice. In 50% of the cases, it is manifested by Mackler's triad: vomiting, lower thoracic pain and subcutaneous emphysema. Hematemesis is an uncommon yet challenging presentation of Boerhaave's syndrome. Compared with ruptures of other parts of the digestive tract, spontaneous rupture is characterized by a higher mortality rate. CASE REPORT: This paper presents a 64-year-old female patient whose vomit was black four days before examination and became bloody on the day of the examination. Her symptoms included epigastric pain and suffocation. Physical examination showed hypotension, tachycardia, dyspnea and a swollen and painful abdomen. Auscultation showed lateral crackling sounds on inspiration. Ultrasound examination showed a distended stomach filled with fluid. Over 1000 ml of fresh blood was extracted by means of nasogastric suction. Esophagogastroduodenoscopy was discontinued immediately upon entering the proximal esophagus, where a large amount of fresh blood was observed. The patient was sent for emergency abdominal surgery, during which she died. An autopsy established a diagnosis of Boerhaave syndrome and ulceration in the duodenal bulb. CONCLUSION: Boerhaave syndrome should be considered in all cases with a combination of gastrointestinal symptoms (especially epigastric pain and vomiting and pulmonary signs and symptoms (especially suffocation.

  6. A case of Werner's syndrome associated with osteosarcoma.

    Science.gov (United States)

    Murata, K; Hatamochi, A; Shinkai, H; Ishikawa, Y; Kawaguchi, N; Goto, M

    1999-10-01

    We described a case of Werner's syndrome associated with osteosarcoma. A 37-year-old Japanese man was diagnosed as having Werner's syndrome by the presence of juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, high-pitched voice, characteristic bird-like appearance of the face with beak-shaped nose, thinning of the entire skin and hyperkeratoses on soles, hyperlipemia, hyperuricemia, diabetes melitus, and the mutated responsible gene (WRN). He had a 3-month history of a tumor on his left forearm. Histologically, the tumor included four histological patterns; a malignant fibrous histiocytoma-like, a desmoid-like, a dermatofibrosarcoma protuberans-like, and a chondrosarcoma-like pattern. Tumoral osteoid formation was also found in the tumor. Therefore, the tumor was diagnosed as osteosarcoma.

  7. [Acute Stress and Broken Heart Syndrome. A Case Report].

    Science.gov (United States)

    Vergel, Juliana; Tamayo-Orozco, Sebastián; Vallejo-Gómez, Andrés Felipe; Posada, María Teresa; Restrepo, Diana

    Stress has been associated with an acute heart failure syndrome of important morbidity and mortality. Case report and non-systematic review of the relevant literature. A 65-year-old woman with a history of an untreated generalized anxiety disorder, whom after the violent death of her son presented with oppressive chest pain irradiated to neck and left superior extremity, lasting for more than 30minutes, initial clinical suspect suggests acute coronary syndrome. Tako-tsubo cardiomyopathy is characterized by a reversible left ventricular dysfunction and wall movement abnormalities, without any compromise of the coronary arteries, associated to high plasma levels of catecholamines which in most cases correlates with an acute stress of emotional or physical type. Tako-tsubo cardiomyopathy has to be considered by physicians among the differential diagnosis when facing a patient with suspected acute coronary syndrome, especially in post-menopausal women with a history of psychiatric comorbidities such as a generalized anxiety disorder. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  8. Therapeutic approach to Gradenigo's syndrome: a case report

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    Aspris Andreas

    2010-05-01

    Full Text Available Abstract Introduction Traditional management of Gradenigo's syndrome requires aggressive and radical surgery without any attempt to preserve hearing. Recent reports, however, describe a successful outcome after conservative surgical intervention without labyrinthectomy. A similar outcome has also been reported in patients who were only prescribed with antibiotics and did not undergo myringotomy. Case presentation We report the case of a 24-year-old Caucasian Greek woman with Gradenigo's syndrome who was treated by draining her petrous apex via an infralabyrithine approach between her posterior semicircular canal and the jugular bulb. Her inner ear was not sacrificed during the procedure. She presented pre-operatively with ipsilateral conductive hearing loss, which recovered completely four weeks after the surgery. Conclusions Patients with Gradenigo's syndrome may be successfully treated with a combination of long-term permanent drainage and ventilation of the apical cells with corresponding hearing preservation. This can be achieved via a combination of transmastoid, infralabyrinthine and suprajugular approaches, if such would be allowed by the anatomy of the region or if there is enough space between the posterior semicircular canal and the jugular bulb.

  9. Schiff-Sherrington syndrome in a horse - Case report

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    Cibele Lima Lhamas

    2015-06-01

    Full Text Available ABSTRACT. Lhamas C.L., Anjos B.L., Pfingstag K.G., Quevedo L.S. & Duarte C.A. [Schiff-Sherrington syndrome in a horse - Case report.] Síndrome de Schiff-Sherrington em equino - Relato de caso. Revista Brasileira de Medicina Veterinária, 37(2:163-166, 2015. Curso de Pós-Graduação em Ciência Animal, Universidade Federal do Pampa, Campus Uruguaiana, BR 472, Km 585, Uruguaiana, RS 97500-970, Brasil. E-mail: claudiaduarte@unipampa.edu.br Schiff-Sherrington syndrome clinically corresponds to a manifestation of rigidity extensor or hypertonia of the forelimb and hypotonic paralysis of the hind limbs. It is a common condition in dogs, however, rarely described in large animals. It can be caused by trauma and spinal cord compression conditions. The aim of this study was to describe the case of a two-year-old male horse with Schiff-Sherrington syndrome. The animal was sent with signs of paresis and ataxia of the hind limbs, and during the necropsy, multiple fractures were observed in the 1st and 2nd lumbar vertebrae and spinal cord compression.

  10. [Cayler syndrome: A case report and review of the literature].

    Science.gov (United States)

    Bellaiche, J; Correia, N; Bouche Pillon Persyn, M A; Chiriac, S; Bodin, F; François, C

    2016-08-01

    Facial asymmetries to the tears are rare. We report a pediatric original case that may fall within the framework of a Cayler syndrome. Through its clinical presentation, we will discuss differential diagnoses, associated forms, its etiology, and its management. At the maternity unit, in a male infant, after vaginal delivery at term without extraction, was discovered a lack of mobility of the labial commissure on the right side, only when crying. The rest of the examination was unremarkable, except ipsilateral microtia. Genetically, karyotype was 46,XY, 22q11 without microdeletion. The head and neck MRI and echocardiogram were normal. Asymmetry with tears has been described in the literature, through association with microdeletion 22q11 syndrome. The originality of this case was the presence of an isolated muscle abnormality. Muscles affected by this syndrome are: Musculus depressor labii inferioris, the Depressor anguli oris, and Mentalis musculus. The three muscles can be affected concomitantly. Isolated involvment of the Depressor anguli oris muscle has also been described. The mechanical dysfunction can be either linked to muscle innervation agenesis or to a defect thereof. There is no specific treatment. The symptoms improve with age by decreasing the frequency of crying. However, it is important to know this pathology in order to seek an optimum balance further in search of associated abnormalities (FISH 22q11, cardiac Doppler ultrasound) but also to educate, to reassure families often worried by the situation. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  11. Case report: waardenburg syndrome.

    Science.gov (United States)

    Dumayas, Grace Lea; Capó-Aponte, José E

    2015-03-01

    A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

  12. A rare case of short stature: Say Meyer syndrome

    Directory of Open Access Journals (Sweden)

    T S Karthik

    2013-01-01

    Full Text Available Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

  13. Swyer-James-Macleod's syndrome. A case report

    International Nuclear Information System (INIS)

    Pacheco C, Dario; Ojeda Leon, Paulina; Varo Acosta, Humberto; Salcedo Veles, Patricia; Salazar Juan Carlos

    1998-01-01

    This is a case report about a 67 years-old female patient with respiratory syndrome of 8 years with cough and dyspnoea. End-inspiration crackles in the pulmonary auscultation were found in left hemi thorax. Chest x-ray in expiration and inspiration showed hyperluscency and air trapping in the same hemi-thorax. Chest high-resolution CT revealed a low sized, oligohemic left lung with cylindrical bronchiectasis. Perfusion scintigraphy 99Tc labeled showed markedly left lung hypo-perfusion. Mild obstructive process was found in pulmonary function test. Lung biopsy of lingula reported bronchiolitis obliterans. Considered all the results that were obtained from clinical, x-ray and histopathology, a diagnosis of Swyer-James-Macleods syndrome was made

  14. Successful pulmonary venous channeling in a case of scimitar syndrome

    International Nuclear Information System (INIS)

    Fatimi, S.; Sheikh, S.; Syed, A.

    2006-01-01

    A young girl child with recurrent pneumonias, failure to thrive and dextroposed heart was diagnosed with and surgically treated for scimitar syndrome. Early diagnosis and treatment of this syndrome prevents serious morbidity. (author)

  15. Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

    Science.gov (United States)

    Zeng, Wen-Heng; Xu, Jiao-Jun; Jia, Min-Yue; Ren, Yue-Zhong

    2014-10-01

    To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.

  16. X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

    OpenAIRE

    Telepova, Alena S.; Romanenko, Svetlana A.; Lemskaya, Natalya A.; Maksimova, Yulia V.; Shorina, Asia R.; Yudkin, Dmitry V.

    2017-01-01

    Background Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the ce...

  17. 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.

  18. 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...

  19. Unusual presentation of prune belly syndrome: a case report.

    Science.gov (United States)

    Demisse, Abayneh Girma; Berhanu, Ashenafi; Tadesse, Temesgen

    2017-12-04

    Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia. A 12-year-old Amhara boy from the Northwest Gondar Amhara regional state presented to our referral hospital with a complaint of swelling over his left flank for the past 3 months. Maternal pregnancy course and medical history were noncontributory, and he had an attended birth at a health center. He has seven siblings, none of whom had similar symptoms. On examination he had a distended abdomen, asymmetric with bulging left flank, visible horizontal line, upward umbilical slit, and absent rectus abdominis muscles. His abdomen was soft with a tender cystic, bimanually palpable mass on the left flank measuring 13 × 11 cm. Both testes were undescended and he also has developmental dysplasia of the hips. An abdominal ultrasound revealed a large cystic mass in his left kidney area with echo debris and a hip X-ray showed bilateral developmental dysplasia of the hip. Intraoperative findings were cystic left kidney, both testes were intraperitoneal, tortuous left renal vein, enlarged bladder reaching above umbilicus, and left megaureter. bilateral orchidectomy and left nephrectomy were done. He was given intravenously administered antibiotics for treatment of pyelonephritis and discharged home with an appointment for follow up and possible abdominoplasty. In the current report delayed presentation contributed to testicular atrophy and decision for orchidectomy. Furthermore, he will be at potential risk for sex hormone abnormality. Therefore, diagnosis of prune

  20. Management of Cervical Kyphosis in Larsen Syndrome: A Case Report

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    Ebrahim Ameri

    2016-10-01

    Full Text Available Introduction Larsen syndrome is a congenital skeletal disorder manifested by several facial, ligamentous and spinal complications. Cervical kyphosis is one of the serious manifestations of the Larsen syndrome. However, there is no consensus regarding the best procedure of cervical kyphosis management in these patients. Case Presentation A 1-year-old boy with the diagnosis of the Larsen syndrome was admitted to our hospital and undergone several corrective surgeries for knee, hip and foot deformities. At the age of 2 years, scoliosis was diagnosed and surgically managed. At the same time, cervical kyphosis was observed and monitored until the symptoms of neurological deficit due to cord compression led to the correction of cervical Kyphosis at the age of 4.5 years. Accordingly, an anterior/posterior (360 degree cervical spinal fusion surgery was performed. Subsequently, cervicothoracic fusion was performed to correct cervicothoracic instability. No neurological complications were reported afterward. Conclusions In spite of existing controversy around the best method of cervical kyphosis management in Larsen syndrome’s patients older than 2- year old, anterior release and posterior fixation followed by anterior spinal fusion and strut grafting led to the satisfactory result in our case.

  1. A Case of Ramsay Hunt Syndrome with Atypical Presentation

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    Kamil KAYAYURT

    2014-09-01

    Full Text Available SUMMARY: Ramsay Hunt syndrome is a rare complication of herpes zoster which results from the reactivation of the latent varicella-zoster virus in the geniculate ganglion. Although facial nerve is the most common affected nerve in Ramsay Hunt syndrome, other cranial and cervical nerves can also be affected. We present an atypical case of Ramsay Hunt syndrome in a 42-year-old male, with cervical nerve involvement. As spontaneous recovery rate in Ramsay Hunt syndrome is low, early diagnosis and treatment plays a key role in full recovery of paralysis. ÖZET: Ramsay Hunt sendromu, varisella-zoster virüsün latent olarak kaldığı genikulat ganglionda aktifleşmesiyle oluşan herpes zosterin nadir bir komplikasyonudur. Ramsay Hunt sendromunda fasiyal sinir en sık etkilenen sinir olmasına rağmen diğer kraniyal sinirler ve servikal sinirler de tutulabilir. Bu yazıda, 42 yaşındaki erkek hastada servikal tutulumun da eşlik ettiği atipik bir Ramsay Hunt sedromu olgusu sunuldu. Ramsay Hunt sedromunda spontan iyileşme oranları düşük olduğundan bu hastaların tanılarının erken dönemde konması ve tedavilerinin hemen başlanması paralizinin tam olarak iyileşmesinde kilit role sahiptir. Key words: Facial palsy, Ramsay Hunt syndrome, varicella-zoster virus, Anahtar sözcükler: Fasiyal paralizi, Ramsay Hunt sendromu, varisella-zoster virüs

  2. A Pediatric Case of Cowden Syndrome with Graves’ Disease

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    Cláudia Patraquim

    2017-01-01

    Full Text Available Cowden syndrome (CS is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves’ disease (GD. At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options.

  3. A case of pervasive refusal syndrome: a diagnostic conundrum.

    LENUS (Irish Health Repository)

    McNicholas, Fiona

    2013-01-01

    A case is presented of an 11-year-old girl with pervasive refusal syndrome (PRS) who ultimately recovered acutely and completely after an 18-month paediatric hospitalisation. There was an apparent absence of previously proposed important aetiological factors in PRS, such as family pathology and markedly traumatic or abusive experiences, and her recovery was sudden and complete. The authors consider the differential diagnoses of PRS paying particular attention to the possibility of a conversion disorder or catatonia, given the absence of PRS in the North American literature. Consideration of catatonia is important as it has a diagnostic test and responds rapidly to appropriate treatment, in contrast to conventional treatment for PRS and conversion disorder.

  4. Case Report : A Relieved Family with the Diagnosis of Wernicke-Korsakoff Syndrome

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    Ahmet Kokurcan

    2014-02-01

    Full Text Available Wernicke-Korsakoff Syndrome (WKS is a diagnosis formed from Wernicke ensephalopathy and Korsakoff Syndrome together. WKS is usually a chronic syndrome beginning acutely. Wernicke%u2019s encephalopathy is an acute syndrome composed of the triad of oculomotor signs; ataxia and confusion. B vitamines especially tiamine are considered to cause the syndrome. Korsakoff syndrome is a syndrome presenting with amnesia and amnesia is permanent in many cases. While Korsakoff syndrome is a continuation form of Wernicke; the syndromes are admitted as the acute and chronic conditions of the same pathophysiology. WKS syndrome means despair for many psychiatrists and the family unless treatment is initiated in the acute phase and irreversible cognitive impairment is prevented. We will discuss a case of WKS pleasing his family as nervousness has improved with cognitive impairment.

  5. Wolfram Syndrome. Case report.

    Science.gov (United States)

    Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech

    2016-01-01

    Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

  6. A Challenging Case of an Ectopic Cushing Syndrome

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    Joana Menezes Nunes

    2014-01-01

    Full Text Available Bronchopulmonary carcinoids are rare pulmonary neoplasms although they account for most cases of ectopic ACTH syndromes. When feasible, the mainstay treatment is surgical resection of the tumor. We report the case of a 52-year-old woman with signs and symptoms suggestive of hypercortisolism for 12 months, admitted to our department because of community acquired pneumonia. Blood hormone analysis showed increased levels of ACTH and urinary free cortisol and nonsuppressibility to high- and low-dose dexamethasone tests. Pituitary MRI showed no lesion and no central-to-peripheral ACTH gradient was present in bilateral inferior petrosal sinus sampling. CRH stimulation test suggested an ectopic ACTH source. Thoracic CT scan revealed a nodular region measuring 12 mm located in the inferior lingular lobule of the left superior lung with negative uptake by 18-FDG-PET scan and negative SRS. The patient was successfully treated with an atypical lung resection and histology revealed an atypical bronchial carcinoid tumor with positive ACTH immunoreactivity. This was an interesting case because the patient was admitted due to pneumonia that may have been associated with her untreated and chronic hypercortisolism and a challenging case of ectopic ACTH syndrome due to conflicting results on the diagnostic exams.

  7. 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;…

  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. Odontogenic Keratocysts in Gorlin?Goltz Syndrome: A Case Report

    OpenAIRE

    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.

  10. Electroconvulsive therapy for lycanthropy and Cotard syndrome: a case report.

    Science.gov (United States)

    Grover, Sandeep; Shah, Ruchita; Ghosh, Abhishek

    2010-12-01

    We present a case of psychotic depression presenting with lycanthropy (being converted to a pig) and Cotard syndrome simultaneously and treated with electroconvulsive therapy. A 37-year-old female patient developed psychotic depression after a stressor (a possibility of having a malignancy). As her depression worsened, she developed delusional belief of self being metamorphosed to a pig and her children also being metamorphosed into pig. In addition, she had the delusional belief that her own body and body of her children was rotting away. She was treated with electroconvulsive therapy along with venlafaxine and olanzapine, with which she improved completely.

  11. [A case report on Waardenburg syndrome with cleft lip].

    Science.gov (United States)

    Traoré, H; Traoré, D; Ouane, O; Simpara, B; Ongoiba, N

    2011-01-01

    The syndrome of Waardenburg is a congenital plurimal formatif unit rare described and individualized for the first time by Waardenburg in 1951. It associates in its form most typical dystopie canthale intern, a widening of the base of the nose, disorders of the pigmentation. We wanted brought back this case because of its scarcity. It was about a 18 month old infant without particular antecedents, which was drawn up to us for correction of congenital malformation. The interrogation did not make it possible to find signs functional notable. With the examination it had a general good state. t presented a bilateral iridal hypochromy, a dystopie canthale, a canitie, a bilateral labial slit. The diagnosis of presumption was the Syndrome of Waardenburg because of the description of at least 2 major signs: dystopie canthale and disorders of the pigmentation. The complementary examinations carried out were those of the preoperative assessment which returned normal. The biological diagnosis which rests on the search for change of gene was not made for reasons of technical order and financier. The surgery is centered on the treatment of the labial slit. A chéiloplastie according to Millard was carried out. The continuations were simple. The Syndrome of Waardenburg is a rare, hereditary entity. A neurosensory deafness, musculo-skeletal anomalies, thus qu' a disease of Hirschsprung will have to be systematically required. The surgery of the slit or the télécanthus allows an social integration of the subjects reached.

  12. Flatfoot in Müller-Weiss syndrome: a case series

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    Wang Xu

    2012-08-01

    Full Text Available Abstract Introduction Spontaneous osteonecrosis of the navicular bone in adults is a rare entity, known as Müller-Weiss syndrome. We report here on our experience with six patients with Müller-Weiss syndrome accompanied by flatfoot deformity, but on a literature search found no reports on this phenomenon. Because the natural history and treatment are controversial, an understanding of how to manage this deformity may be helpful for surgeons when choosing the most appropriate operative procedure. Case presentation Six patients (five women, one man; average age, 54 years with flatfoot caused by osteonecrosis of the navicular bone were followed up between January 2005 and December 2008 (mean follow-up period, 23.2 months. Conservative treatment, such as physical therapy, and non-steroidal anti-inflammatory drugs were used, but failed. Physical examinations revealed flattening of the medial arch of the involved foot and mild tenderness at the mid-tarsal joint. Weight-bearing X-rays (anterior-posterior and lateral views, computed tomography, and MRI scans were performed for each case. Talonavicular joint arthrodesis was performed in cases of single talonavicular joint arthritis. Triple arthrodesis was performed in cases of triple joint arthritis to reconstruct the medial arch. Clinical outcomes were assessed using the American Orthopaedic Foot and Ankle Society ankle-hindfoot scale; the scores were 63.0 pre-operatively and 89.8 post-operatively. All patients developed bony fusion. Conclusions The reason for the development of flatfoot in patients with Müller-Weiss syndrome is unknown. Surgical treatment may achieve favorable outcomes in terms of deformity correction, pain relief, and functional restoration. The choice of operative procedure may differ in patients with both flatfoot and posterior tibial tendon dysfunction.

  13. Cracked tooth syndrome: A report of three cases.

    Science.gov (United States)

    Sadasiva, Kadandale; Ramalingam, Sathishmuthukumar; Rajaram, Krishnaraj; Meiyappan, Alagappan

    2015-08-01

    Cracked tooth syndrome (CTS), the term was coined by Cameron in 1964, which refers to an incomplete fracture of a vital posterior tooth extending to the dentin and occasionally into the pulp. CTS has always been a nightmare to the patient because of its unpredictable symptoms and a diagnostic dilemma for the dental practitioner due to its variable, bizarre clinical presentation. The treatment planning and management of CTS has also given problems and challenges the dentist as there is no specific treatment option. The management of CTS varies from one case to another or from one tooth to another in the same individual based on the severity of the symptoms and depth of tooth structure involved. After all, the prognosis of such tooth is still questionable and requires continuous evaluation. This article aims at presenting a series three cases of CTS with an overview on the clinical presentation, diagnosis and the different treatment options that varies from one case to another.

  14. [Coffin-Siris syndrome. Critical study of the literature apropos of a case].

    Science.gov (United States)

    Foasso, M F; Hermier, M; Descos, B; Collet, J P; Perron, F

    1983-03-01

    The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and mental retardation. The connections of the Coffin Siris syndrome with the trisomy 9 p+ syndrome and the fetal hydantoïn syndrome are discussed.

  15. Management of Hypothenar Hammer Syndrome A Case Report.

    Science.gov (United States)

    Swofford, Brenen P; Swofford, Devon P

    2018-02-09

    BACKGROUND Hypothenar hammer syndrome is a relatively rare disease process caused by repetitive stress or injury to the hypothenar eminence leading to chronic injury to the ulnar artery. This chronic stress (usually as a result of occupational or sport activities) may result in arterial constriction or thickening, which may lead to thrombosis or aneurysm formation. A review of current literature revealed that reports related to management of hypothenar hammer syndrome are limited. CASE REPORT A 33-year-old male without significant past medical history presented with left hand/digit pain, skin discoloration, and coolness of the hand/digits after a mechanical accident experienced 12 hours prior to presentation. Angiography confirmed reduced flow in the ulnar and radial artery with significant spasm of the ulnar artery. Treatment consisted of heparin, nitroglycerin, and papaverine with rapid resolution of symptoms. The patient was discharged on anticoagulation and a calcium channel blocker, with scheduled follow-up. CONCLUSIONS Hypothenar hammer syndrome is a rare disease process which manifests in certain occupations and activities that put undue stress on the hypothenar area. The use of angiography for definitive diagnosis and the use of anticoagulation and calcium channel blockers for treatment should continue to be studied to determine a standard treatment regimen.

  16. Recurrent Guillain-Barre Syndrome- A Case Report

    Directory of Open Access Journals (Sweden)

    Dilesha WL

    2015-05-01

    Full Text Available Guillain-Barre syndrome (GBS manifests as acute flaccid weakness of limbs, and is considered a monophasic illness. But recurrences have been reported. Published case studies suggest that 1- 5% of patients who had GBS will have recurrent attacks. We describe a 66-year-old lady who presented with acute onset descending, symmetrical, areflexic, flaccid quadriparesis that progressed to respiratory failure. She had a history of GBS five years back of which she had made a complete recovery with no residual weakness. The diagnosis of recurrent GBS was made.

  17. A case of unilateral atypical orofacial pain with Eagle's syndrome

    Directory of Open Access Journals (Sweden)

    G V Sowmya

    2016-01-01

    Full Text Available Eagle's syndrome is not an uncommon condition, but less known to physicians, where an elongated styloid process or calcified stylohyoid ligament compresses the adjacent anatomical structures leading to orofacial pain. Diagnosis is made with appropriate radiological examination. Nonsurgical treatment options include reassurance, analgesia, and anti.inflammatory medications; and the surgical option includes a transoral or external approach. Here, we present a case report of a male patient, of age38 years, with a chief complaint of unilateral atypical orofacial pain on the right side of his face radiating to the neck region, for the last two months.

  18. Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report

    Directory of Open Access Journals (Sweden)

    Carolina Melendez Valdez

    Full Text Available CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero.CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fet al echocardiography showed only a dextroposed heart. Fet al magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fet al karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia.CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births.

  19. Gorlin-Goltz syndrome and stroke: a case report.

    Science.gov (United States)

    Budinčević, Hrvoje; Starčević, Katarina; Bielen, Ivan; Demarin, Vida

    2014-01-01

    We report on the case of a 32-years old male patient who was previously diagnosed with Gorlin-Goltz syndrome. The patient presented with sudden-onset right-sided hemiparesis, supranuclear facioparesis, and motor aphasia. He was treated with thrombolytic therapy, which successfully alleviated the symptoms. Subsequent radiologic work-up revealed anomalies in the vertebral arteries, a bifid rib, an ischemic lesion in the supply area of the left middle cerebral artery, and falx calcifications. Laboratory tests showed a 4G/4G polymorphism of the plasminogen activator inhibitor 1 (PAI-1) gene whose correlation with stroke is discussed in the article.

  20. Neuroleptic Malignant Syndrome: A Case Aimed at Raising Clinical Awareness

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    Jad Al Danaf

    2015-01-01

    Full Text Available A 60-year-old man with a history of bipolar disorder on risperidone, bupropion, and escitalopram was admitted for community acquired streptococcal pneumonia. Four days later, he developed persistent hyperthermia, dysautonomia, rigidity, hyporeflexia, and marked elevation of serum creatine phosphokinase. He was diagnosed with neuroleptic malignant syndrome (NMS and improved with dantrolene, bromocriptine, and supportive therapy. This case emphasizes the importance of considering a broad differential diagnosis for fever in the ICU, carefully reviewing the medication list for all patients, and considering NMS in patients with fever and rigidity.

  1. Twiddler´s syndrome: report of a case

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    Ramírez Quintero, Juan David

    2015-04-01

    Full Text Available Twiddler´s syndrome is a rare complication of cardiac conduction devices; despite its low frequency, it should be considered when evaluating patients with suspicion of pacemaker´s dysfunction. We report the case of a 62 year old man who consulted Hospital Universitario San Vicente Fundación, in Medellín, Colombia, with decompensated heart failure due to dislodgement of the left ventricle lead of his recently implanted biventricular pacemaker. The patient improved with the placement of a new device.

  2. Alstrom syndrome (OMIM 203800: a case report and literature review

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    Hegele Robert A

    2007-12-01

    Full Text Available Abstract Background Alstrom syndrome (AS is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described. Case presentation We describe the case of a 27-year old female from an English (Caucasian kindred. She had been initially referred for hypertriglyceridemia, but demonstrated other features suggestive of AS, including blindness, obesity, type 2 diabetes, renal dysfunction, and hypertension. DNA analysis revealed that she is a compound heterozygote with two novel mutations in the ALMS1 gene – H3882Y and V424I. Examination of her family revealed that her phenotypically unaffected mother and younger sister also had heterozygous mutations in the ALMS1 gene. In addition to presenting these novel molecular findings for AS, we review the clinical and genetic features of AS in the context of our case. Conclusion Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals.

  3. A Case of Turner Syndrome with Multiple Embolic Infarcts

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    Cindy W. Yoon

    2016-09-01

    Full Text Available Only a few cases of Turner syndrome (TS with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports.

  4. A rare case of short stature: Say Meyer syndrome.

    Science.gov (United States)

    Karthik, T S; Prasad, N Rajendra; Rani, P Radha; Maheshwari, Rushikesh; Reddy, P Amaresh; Chakradhar, B V S; Menon, Bindu

    2013-10-01

    Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

  5. Cauda equina syndrome presenting as abdominal pain: a case report.

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    Ellanti, Prasad

    2012-09-01

    Cauda equina syndrome (CES) is an uncommon entity. Symptoms include bowel and bladder dysfunction, saddle anesthesia, and varying degrees of lower limb motor and sensory disturbances. The consequences of delayed diagnosis can be devastating, resulting in bowel and bladder incontinence and lower limb paralysis. There is little in literature regarding abdominal pain as a significant feature of the initial presentation of CES. We present the case of a 32-year-old woman with CES who presented to the emergency department with gradually worsening lower abdominal pain.

  6. A Case Report of Eosinophilic Esophagitis Accompanying Hypereosinophilic Syndrome

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    Mahreema Jawairia

    2012-01-01

    Full Text Available Hypereosinophilic syndrome is a blood disorder characterized by the overproduction of eosinophils in the bone marrow with persistent peripheral eosinophilia, associated with organ damage by the release of eosinophilic mediators. Although HES can involve multiple organ systems, GI tract involvement is very rare. Few cases of HES presenting with gastritis or enteritis have been reported worldwide. To date, HES presenting with esophagus involvement has only been reported once. Here, we present a 39-year-old Hispanic female patient with history of HES presenting with complaints of dysphagia and generalized pruritus.

  7. Partial prune belly syndrome: A rare case report

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    Aditya Pratap Singh

    2017-01-01

    Full Text Available Prune belly syndrome (PBS is characterized by deficient development of abdominal muscles that causes the skin of the abdomen to wrinkle like a prune, bilateral cryptorchidism, abnormalities of the urinary tract. The etiology of PBS is unclear and possible familial genetic inheritance was reported in some of the studies. We are presenting here a case with the absence of the muscle in the right side of the abdomen as hernia, thinning of the muscle on left side with bilateral cryptorchidism, and abnormalities of the urinary tract. It is the partial presentation of the PBS.

  8. [A case of hypothyroidism displaying "dropped head" syndrome].

    Science.gov (United States)

    Furutani, Rikiya; Ishihara, Kenji; Miyazawa, Yumi; Suzuki, Yoshio; Shiota, Jun-Ichi; Kawamur, Mitsuru

    2007-01-01

    We describe a patient with hypothyroidism displaying "dropped head" syndrome. A 50-year-old man visited our clinic because he was unable to hold his head in the natural position. He had weakness and hypertrophy of the neck extensor muscles. Tendon reflexes were diminished or absent in all limbs. Mounding phenomena were observed in the bilateral upper extremities. Blood biochemical analysis revealed hypothyroidism, hyperlipidemia, and elevated levels of muscle-derived enzymes. Magnetic resonance imaging (MRI) of the neck demonstrated swelling and hyperintensity of the neck extensor muscles on T2-weighted images. The result of biopsy of the right biceps brachii muscle suggested mild atrophy of type 2 fibers. The diameters of the muscle fibers exhibited mild variation. No inflammatory changes were observed. We diagnosed hin as having "dropped head" syndrome due to hypothyroidism. Administration of thyroid hormone agent gradually improved his condition, and he became able to hold his head in the natural position. Levels of muscle-derived enzymes normalized and his hyperlipidemia remitted. Neck MRI also revealed improvement. Our findings suggest that hypothyroidism should be considered in the differential diagnosis of "dropped head" syndrome, although only a few cases like ours have been reported.

  9. Ovarian Hyperstimulation Syndrome Presenting with Polyserositis: A Case Report

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    Nilay Şengül Samancı

    2014-03-01

    Full Text Available Ovarian hyperstimulation syndrome (OHSS is an iatrogenic complication of ovulation induction with exogenous gonadotropins. Pleural effusion and abdominal ascites frequently accompany this syndrome. In this paper, we present the case of a 22-year-old female patient who was admitted to our clinic with the complaints of sudden chest pain and dyspnea and was treated with ovulation induction. Exudative pleural effusion and ascites were determined in the patient. Pelvic ultrasonography revealed enlarged ovaries with numerous follicular cysts compatible with ovarian hyperstimulation syndrome (OHSS. Her estradiol level was >5054 pg/ml. The diagnosis of OHSS was established after elimination of other causative factors of polyserositis (pleural effusion and ascites. The disappearance of pleural effusion and ascites spontaneously in a week supported our diagnosis. Herein, we aimed to emphasize that OHSS should be considered in the differential diagnosis of polyserositis in young female patients with a history of ovulation induction history. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 56-9

  10. [Psychotic disorder induced by Fahr's syndrome: a case report].

    Science.gov (United States)

    El Hechmi, S; Bouhlel, S; Melki, W; El Hechmi, Z

    2014-06-01

    Fahr's syndrome is a rare disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex associated with many neurological and psychiatric abnormalities such as a rigid hypokinetic syndrome, mood disorders and cognitive impairment. Fahr's syndrome is secondary to some disorders, such as hypoparathyroidism. We report the case of a 56 year-old man, with a history of cataract, who was admitted to our psychiatric hospital for the first time in his life because of psychotic symptoms associated with irritability and aggressiveness. Since the age of 38 the patient had become nervous, 10 years later he developed tonic-clonic seizures. Two months ago, he began expressing delusions of persecution against his wife and sons and making fugues. According to his family during this period, he was agitated, aggressive, and suffered from insomnia and anorexia. The general and psychiatric examination showed an upright and bronzed patient with neglected hygiene. He was indifferent to his environment and expressed poor mimics and gestures. He was anxious, suspicious and not very talkative. He was conscious but his attention was slightly decreased. Moreover, he was not aware of his problems. The neurological examination showed extrapyramidal syndrome with postural tremor and cerebellar ataxia. A cranial computed tomography brain scan found bilateral, symmetric basal ganglia calcifications, in favour of Fahr's syndrome. Phosphocalcic investigations revealed low concentration of serum calcium at 1.01mmol/L (normal 2.15 to 2.57mmol/L) and hyperphosphoremia at 2.69mmol/L (normal 0.81 to 1.55mmol/L). He also had low concentrations of 25-OH vitamin as well as decreased urinary levels of phosphate and calcium. The blood level of parathyroid hormone was 0ng/L. The diagnosis of Fahr's syndrome, revealing a hypoparathyroidism was posed. He was supplemented with calcium and alpha cholecalciferol and treated

  11. Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report

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    Dantas Clarissa R

    2010-07-01

    Full Text Available Abstract Introduction Wernicke's encephalopathy is an acute, potentially fatal, neuropsychiatric syndrome resulting from thiamine deficiency. The disorder is still greatly under-diagnosed, and failure to promptly identify and adequately treat the condition can lead to death or to the chronic form of the encephalopathy - Korsakoff's syndrome. Wernicke's encephalopathy has traditionally been associated with alcoholism but, in recent years, there has been an increase in the number of clinical settings in which the disorder is observed. Case presentation We report the case of a 45-year-old Caucasian woman who arrived at the emergency room presenting signs of marked malnutrition and mental confusion, ataxic gait and ophthalmoplegia. Main laboratory test findings included low serum magnesium and megaloblastic anemia. Brain magnetic resonance imaging revealed increased T2 signal in the supratentorial paraventricular region, the medial regions of the thalamus and the central and periaqueductal midbrain. The diagnosis of Wernicke's encephalopathy was made at once and immediate reposition of thiamine and magnesium was started. The patient had a long history of recurrent thoughts of being overweight, severe self-imposed diet restrictions and self-induced vomiting. She had also been drinking gin on a daily basis for the last eight years. One day after admittance the acute global confusional state resolved, but she presented severe memory deficits and confabulation. After six months of outpatient follow-up, memory deficits remained unaltered. Conclusion In this case, self-imposed long-lasting nutritional deprivation is thought to be the main cause of thiamine deficiency and subsequent encephalopathy, but adjunct factors, such as magnesium depletion and chronic alcohol misuse, might have played an important role, especially in the development of Korsakoff's syndrome. The co-morbidity between eating disorders and substance abuse disorders has emerged as a

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

    Science.gov (United States)

    Faber, Raymond; Azad, Alvi; Reinsvold, Richard

    2010-08-01

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

  13. Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report

    OpenAIRE

    Tsukamoto, Masanori; Yamanaka, Hitoshi; Yokoyama, Takeshi

    2017-01-01

    Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn ...

  14. Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review

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    Bougioukas Ioannis

    2010-08-01

    Full Text Available Abstract Kartagener syndrome consists of congenital bronchiectasis, sinusitis, and total situs inversus in half of the patients. A patient diagnosed with Kartagener syndrome was reffered to our department due to 3-vessel coronary disease. An off-pump coronary artery bypass operation was performed using both internal thoracic arteries and a saphenous vein graft. We performed a literature review for cases with Kartagener syndrome, coronary surgery and dextrocardia. Although a few cases of dextrocardia were found in the literature, no case of Kartagener syndrome was mentioned.

  15. Multiple abdominal cysts in a patient with Gorlin-Goltz syndrome: a case report.

    Science.gov (United States)

    Haenen, F; Hubens, G; Creytens, D; Vaneerdeweg, W

    2013-01-01

    A rare case of symptomatic mesenteric cysts in a patient with Gorlin-Goltz syndrome, associated with various neoplasms, is presented. The patient, known with Gorlin-Goltz syndrome, consulted with increasingly severe abdominal pain and large abdominal cysts. At surgery, the cysts were excised and the postoperative course was uneventful. In conclusion, this case reminds clinicians to always maintain a wide differential diagnosis when dealing with patients known with Gorlin-Goltz syndrome.

  16. Sleep-Related Eating Disorder: A Case Report of a Progressed Night Eating Syndrome

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    Sayed Shahabuddin Hoseini

    2012-07-01

    Full Text Available Night eating syndrome is a common disorder in eating behaviors that occurs in close relation to the night time sleep cycle. Although eating disorders are common in society, night eating syndrome has been left neglected by health care professionals. In this report we present a case of eating disorder that exhibits some novel features of night eating syndrome. Our case was a progressed type of eating disorder which may increase awareness among physicians about sleep-related eating disorders.

  17. Rehabilitation in locked-in-syndromea case study

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    Anna Grabowska

    2017-03-01

    Full Text Available Introduction: The locked-in syndrome is a neurological condition which occurs most often as a result of brainstem stroke, characterized by the presence of sustained eye opening, aphonia or severe hypophonia, quadriplegia or quadriparesis, preserved cognitive functioning, and a primary and elementary code of communication using vertical eye movements or blinking. This illness leads to complete physical disability of the person, accompanied with fully retained mental capability. Case study: The goal of the hereby work is to present a description of a case of a person with the locked-in syndrome, caused by ischemic stroke of the pons and left cerebellar hemisphere. The prognosis of improvement in LIS is bad. The patient has to adapt to the new, difficult situation that will probably accompany him for whole life. The article presents the therapeutic process from the onset through physical rehabilitation,  speech therapy and psychological  therapy until return home. The process requires patience from the patient and therapists and family members. Conclusion: Research in this area is supposed to help in planning of cooperation the entire medical team of doctors, nurses, physiotherapists, social workers, speech therapists and neuropsychologists. Interdisciplinary proceedings can greatly help to achieve even a minimal degree of independence and autonomy.

  18. Abdominal compartment syndrome following abdominoplasty: A case report and review

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    Arash Izadpanah

    2014-01-01

    Full Text Available Abdominoplasty is among the most commonly performed aesthetic procedures in plastic surgery. Despite high complication rate, abdominal contouring procedures are expected to rise in popularity with the advent of bariatric surgery. Patients with a history of gastric bypass surgery have an elevated incidence of small bowel obstruction from internal herniation, which is associated with non-specific upper abdominal pain, nausea, and a decrease in appetite. Internal hernias, when subjected to elevated intra-abdominal pressures, have a high-risk of developing ischemic bowel. We present a case report of patient with previous laparoscopic Roux-en-y gastric bypass who developed acute ischemic bowel leading to abdominal compartment syndrome following abdominoplasty. To the best of our knowledge, this is the first reported case in the literature. We herein emphasise on the subtle symptoms and signs that warrant further investigations in prospective patients for an abdominal contouring procedure with a prior history of gastric bypass surgery.

  19. Bilateral uveitis and Usher syndrome: a case report

    OpenAIRE

    Benson, Matthew D; MacDonald, Ian M

    2015-01-01

    Introduction Usher syndrome is a genetically heterogeneous condition and represents the most common cause of inherited combined vision and hearing loss. Deficits manifest as sensorineural hearing loss that typically develops at a young age and retinitis pigmentosa that can lead to peripheral vision loss and night blindness. As a result, this syndrome can have a significant impact on a patient?s quality of life. Previous studies have described an association between Usher syndrome and Fuchs? h...

  20. Complete androgen insensitivity syndrome with paratesticular leiomyoma: A case report

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    Lee, Ji Hoon; Oh, Hyung Woo; Lee, Mi Ja; Lim, Dong Hoon [Chosun University College of Medicine, Gwangju (Korea, Republic of)

    2017-03-15

    Complete androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder. Patients with AIS may develop primary amenorrhea due to androgen receptor resistance, resulting in a normal female phenotype and male (XY) karyotype. We report a case of a 30-year-old woman who was diagnosed with complete AIS. Ultrasonography and magnetic resonance imaging revealed bilateral inguinal cryptorchidism and no ovaries and uterus. After gonadectomy, the inguinal mass was confirmed as testicular atrophy with hamartomatous proliferation of Leydig cells and paratesticular leiomyoma. Although these tumors have been reported in association with AIS, this is the first case of paratesticular leiomyoma with hamartomatous proliferation of Leydig cells in atrophic testes being reported in Korea.

  1. Complete androgen insensitivity syndrome with paratesticular leiomyoma: A case report

    International Nuclear Information System (INIS)

    Lee, Ji Hoon; Oh, Hyung Woo; Lee, Mi Ja; Lim, Dong Hoon

    2017-01-01

    Complete androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder. Patients with AIS may develop primary amenorrhea due to androgen receptor resistance, resulting in a normal female phenotype and male (XY) karyotype. We report a case of a 30-year-old woman who was diagnosed with complete AIS. Ultrasonography and magnetic resonance imaging revealed bilateral inguinal cryptorchidism and no ovaries and uterus. After gonadectomy, the inguinal mass was confirmed as testicular atrophy with hamartomatous proliferation of Leydig cells and paratesticular leiomyoma. Although these tumors have been reported in association with AIS, this is the first case of paratesticular leiomyoma with hamartomatous proliferation of Leydig cells in atrophic testes being reported in Korea

  2. Anesthetic management of a patient with stiff-person syndrome and thymoma: a case report

    Institute of Scientific and Technical Information of China (English)

    QIN Xiang; WANG Dong-xin; WU Xin-min

    2006-01-01

    @@ Stiff-person syndrome (SPS, also called stiff-man syndrome) is a rare neurological disease with autoimmune features. It is characterized by fluctuating and progressive muscle rigidity, and episodic spasm that prominently involve axial and limb musculature.1,2 Herein we report a case of anesthetic management of a patient with SPS for thymectomy and review several other cases.

  3. Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    Full Text Available CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He was the first child of young, healthy and consanguineous parents (fourth-degree relatives. The parents had normal head circumferences and intelligence. The patient presented microcephaly and specific abnormalities of the retina, with multiple diffuse oval areas of pigmentation and patches of chorioretinal atrophy associated with diffuse pigmentation of the fundus. Ophthalmological evaluations on the parents were normal. A computed tomography scan of the child's head showed slight dilation of lateral ventricles and basal cisterns without evidence of calcifications. We did not find any lymphedema in his hands and feet. He had postnatal growth retardation, severe mental retardation and cerebral palsy.CONCLUSIONS: The finding of chorioretinal lesions in a child with microcephaly should raise suspicions of the autosomal recessive form of microcephaly-chorioretinopathy syndrome, especially in cases with an atypical pattern of eye fundus and consanguinity. A specific diagnosis is essential for an appropriate clinical evaluation and for genetic counseling for the patients and their families.

  4. Ocular findings in MELAS syndromea case report.

    Science.gov (United States)

    Modrzejewska, Monika; Chrzanowska, Martyna; Modrzejewska, Anna; Romanowska, Hanna; Ostrowska, Iwona; Giżewska, Maria

    We present a case of a child with MELAS syndrome (mitochondrial encephalo-myopathy with lactic acidosis and stroke-like episodes), discussing clinical manifestation, ocular findings and diagnostic challenges. Predominant ocular symptom was a transient complete visual loss, while the predominant ocular sign was a visual field defect. The diagnosia was based on clinical manifestation, laboratory tests, brain scans and genetic testing which confirmed the pathognomonic mutation in the MTTL1 gene encoding the mitochondrial tRNA for leucine 3243> G. Ocular examination demonstrated decreased visual acuity (with bilateral best corrected visual acuity of .1). Periodical, transient visual loss and visual field defects were clinically predominant. Specialist investigations were carried out, which demonstrated homonymous hemianopia (kinetic perimetry), bilateral partial optic nerve atrophy (RetCam). Funduscopy and electrophysiology mfERG study did not confirm features of retinitis pigmentosa. The brain scans revealed numerous small cortical ischemic lesions within the frontal, parietal and temporal lobes, post-stroke focal areas within the occipital lobes and diffuse calcifications of the basal ganglia. During several years of follow-up, visual field defects showed progressive concentric narrowing. The patient received a long-term treatment with arginine, coenzyme Q and vitamin D, both oral and intravenous, but no beneficial effect for the improvement of ophthalmic condition was observed. As it is the case in severe MELAS syndrome, the course of disease was fatal and the patientdied at the age of 14.

  5. Association of reversible splenial lesion syndrome (RESLES) with Anti-VGKC autoantibody syndrome: a case report.

    Science.gov (United States)

    Gilder, Thomas R; Hawley, Jason S; Theeler, Brett J

    2016-05-01

    A 50-year-old male presented with complaints of fatigue, confusion, and memory problems. Neurological evaluation revealed altered cognition, unsteady gait, ataxia, dysmetria, and weakness. MRI of the brain was initially unremarkable. Over several days, the patient experienced improvement of symptoms and a follow-up MRI revealed a small lesion in the splenium of the corpus callosum seen on diffusion weighted and T2 sequences. The patient was discovered to have elevated anti-voltage gated potassium channel serum autoantibodies. Follow-up MRI revealed resolution of the splenial lesion. The patient was treated with intravenous immune globulin, and improved back to his pre-treatment baseline. We believe this to be the first case of a reversible splenial lesion syndrome as a manifestation of the anti-voltage gated potassium channel autoantibody syndrome, and propose a pathophysiologic mechanism.

  6. Ectodermal dysplasia-skin fragility syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Subhash Kashyap

    2015-01-01

    Full Text Available Ectodermal dysplasia/skin fragility syndrome (ED-SFS is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1, which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Only 12 cases of this rare genodermatosis have been reported so far. We present an unusual case of ED-SFS in a 12-year boy who was normal at birth but subsequently developed skin fragility, hair and nail deformities, abnormal dentition, palmoplantar keratoderma, and abnormal sweating but no systemic abnormality.

  7. Right Hemithorax Empyema in a Known Case of Caroli Syndrome

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    R. Ebrahimian

    2015-10-01

    Full Text Available Introduction: Caroli disease is a rare congenital disorder characterized by segmental, nonob-structive dilatation of intrahepatic bile ducts. The term Caroli syndrome is used for the asso-ciation of Caroli disease with congenital hepatic fibrosis. Case Report: A 37 year old woman, a diagnosed case of Caroli syndrome, was admitted to hospital because of fever, cough and sputum. During the clinical examination and imaging, thoracic empyema and lung abscess was seen in the right hemithorax. Also, pneumobilia was seen in abdominal CT scan. Conclusion: Tube thoracostomy was done but lung did not expand. Therefore , right thora-cotomy was performed. Intraoperative finding was as fallows :because of biliary tract infec-tion and abccess formation the tracts were fistulated to the lung parenchyma and pleural space. Irrigation and drainage was performed. After 2 weeks the patient was discharged. He was being fallowed up for 1 year after the surgery and no serious problem was observed. (Sci J Hamadan Univ Med Sci 2015; 22 (3: 263-267

  8. Preejaculatory illness syndrome: Two cases of a rare psychosomatic disorder

    Directory of Open Access Journals (Sweden)

    Adel Mohsen

    2016-01-01

    Full Text Available Human ejaculation happens in the orgasmic phase of the human sexual response cycle. Among psychosomatic ejaculatory disorders that may happen before ejaculation, we present two cases of preejaculatory illness syndrome. The two cases shared common symptoms of sympathetic over activity, the sensation of impending death, and muscle atonia with subsequent failure to ejaculate. Depression, anxiety disorders, and family histories of psychiatric problems were noticed as risk factors. Medical conditions that may lead to panic attack type symptoms were eliminated before the final diagnosis. After the failure of empirical medications, symptoms became controlled with fluoxetine. Patients reported a recurrence of the symptoms on trying to stop the prescribed medication. On the last follow-up, they still take fluoxetine on a regular base with satisfactory sexual life.

  9. Pediatric Nonfracture Acute Compartment Syndrome: A Review of 39 Cases.

    Science.gov (United States)

    Livingston, Kristin; Glotzbecker, Michael; Miller, Patricia E; Hresko, Michael T; Hedequist, Daniel; Shore, Benjamin J

    2016-01-01

    Compartment syndrome in the absence of fracture is rare and poorly described within the pediatric literature. The purpose of this study was to report the varying etiologies, risk factors, and treatment outcomes associated with pediatric nonfracture acute compartment syndrome (NFACS). We conducted a retrospective chart review on 37 children who suffered a NFACS and were treated at a single pediatric trauma center between 1997 and 2013. Demographic, diagnostic, treatment, and outcome characteristics were reviewed. Five causal groups were generated: trauma, exercise related (acute presentation after exercise without trauma), infectious, vascular, and postoperative (in the absence of osteotomy). Univariate and multivariate analyses were performed to identify risk factors of NFACS. P-values 39 cases of NFRCS in 37 children [6 females, 31 males, mean age of 11.7 y (SD+7.2 y)]. The leg was the most commonly involved limb (29 cases, 74%). Diagnosis of NFRCS was made either by compartment pressure monitoring [59%, 23/39 cases, mean pressure 66 mm Hg (SD+28)] or by clinical examination. According to etiology, vascular was most common (11/39, 28%), followed by trauma (10/39, 26%) and postoperative (8/39, 21%), with exertion and infection representing a small proportion (6/39, 15% and 4/39, 10%, respectively). Pain was present in 33 cases (85%), swelling in 28 cases (72%), paresthesias in 13 cases (33%), motor deficit in 12 cases (31%), and poor perfusion in 11 cases (28%). Average time from symptom onset to diagnosis was 48 hours (IQR, 9 to 96 h). At surgery, 21 patients (54%) had evidence of myonecrosis. Children required an average of 3 surgeries for wound closure. The median time to follow-up was 232 days (IQR, 73 to 608 d). A total of 54% made a full recovery, whereas 31% suffered a persistent neurological or functional deficit. NFACS in children is associated with a delay in diagnosis and a high rate of myonecrosis. Timely assessment with high clinical suspicion is

  10. A case study on the successful management of Cotard's syndrome in pregnancy: Case Reports.

    Science.gov (United States)

    Howe, G; Srinivasan, M

    1999-01-01

    Cotard's Syndrome is rare and no cases have been reported in pregnancy. We describe a case of a woman in the third trimester who attempted suicide by jumping out of a window, sustaining multiple fractures. Delivery of her baby by Caesarean section and orthopaedic intervention was necessary before electroconvulsive therapy (ECT) could be administered, resulting in a successful outcome for both mother and child. (Int J Psych Clin Pract 1999; 3: 293-295).

  11. Nance-Horan Syndrome: A Rare Case Report.

    Science.gov (United States)

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  12. Nance–Horan syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Shambhu Sharma

    2017-01-01

    Full Text Available Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  13. Nance–Horan Syndrome: A Rare Case Report

    Science.gov (United States)

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome. PMID:29042737

  14. A case of 18p deletion syndrome after blepharoplasty

    Directory of Open Access Journals (Sweden)

    Xu LJ

    2017-01-01

    Full Text Available Li-juan Xu,1 Lv-xian Wu,2 Qing Yuan,3 Zhi-gang Lv,1 Xue-yan Jiang2 1Department of Opthalmology, 2Department of Pediatrics, 3Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang, People’s Republic of China Objective: The deletion of the short arm of chromosome 18 is thought to be one of the rare chromosomal aberrations. Here, we report a case to review this disease.Case report: The proband is a five-and-a-half-year-old girl who has had phenotypes manifested mainly by ptosis, broad face, broad neck with low posterior hairline, mental retardation, short stature, and other malformations. Chromosomal analysis for her mother showed a normal karyotype. Her father and younger brother were phenotypically normal.Result: Phenotypical features were quite similar throughout other cases and in accordance with the usual phenotype of del(18p suggested within the same cases and among the del(18p cases described. She underwent blepharoplasty, which improved her appearance.Conclusion: 18p deletion syndrome is diagnosed by gene analysis. Plastic surgeries for improving the appearance might be an option for these patients. Keywords: chromosome, deletion, blepharoplasty

  15. [Analysis of a case series of workers with mobbing syndrome].

    Science.gov (United States)

    Marinoni, B; Minelli, C M; Franzina, B; Martellosio, V; Scafa, F; Giorgi, I; Mazzacane, F; Stancanelli, M; Mennoia, N V; Candura, S M

    2007-01-01

    Mobbing represents nowadays a major challenge for Occupational Medicine. We examined, during the last seven years, 253 patients who asked medical assistance for psychopathological problems by them ascribed to mobbing in the working environment. All patients underwent occupational health visit, psychological counselling (including personality tests administration), and psychiatric evaluation. A clinical picture probably due to mobbing was diagnosed in 37 workers: 2 cases of Post-Traumatic Stress Disorder (PTSD), 33 of Adjustment Disorder (AD), and 2 of anxiety disorder. Regarding mobbing typology, we found 19 cases of vertical mobbing (by an employer/manager to employees), 14 cases of strategic mobbing, 3 cases of horizontal mobbing (among colleagues), and one non intentional mobbing. In conclusion, a pure mobbing syndrome was diagnosed in a lower proportion than that reported by other investigators. The described interdisciplinary approach appears useful for the diagnostic assessment of suspect mobbing cases, that in turn is crucial for prognosis and treatment, as well as in relation to medico-legal issues and work-related compensation claims.

  16. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

    Science.gov (United States)

    Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

  17. Nance–Horan Syndrome: A Rare Case Report

    OpenAIRE

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, mi...

  18. 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. PMID:26225111

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

    Directory of Open Access Journals (Sweden)

    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.

  20. Like Father, Like Daughter-inherited cutis aplasia occurring in a family with Marfan syndrome: a case report.

    Science.gov (United States)

    Islam, Yasmin Florence Khodeja; Williams, Charles A; Schoch, Jennifer Jane; Andrews, Israel David

    2017-01-01

    We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.

  1. Lemierre’s syndrome following perianal abscess: A case report

    Directory of Open Access Journals (Sweden)

    Qusai Aljarrah

    Full Text Available Introduction: Lemierre’s syndrome (LS is a rare and life-threatening condition characterized by suppurative thrombophlebitis of the internal jugular vein (IJV, and a history of head and neck (H&N sepsis. LS is usually caused by Fusobacterium necrophorum, which is part of the normal flora in the oro-pharynx, and the digestive and urogenital tracts. We here report the first case of LS following perianal sepsis. Presentation of case: A 60-year-old man with a painful left neck swelling, dysphagia and worsening sepsis was referred from a peripheral unit where he had an incision and drainage of a perianal abscess a week earlier. Urgent Doppler ultrasound and computed tomographic scans demonstrated suppurative thrombophlebitis of the left IJV, and the patient was subsequently commenced on intravenous Piperacillin/Tazobactam and heparin. The symptoms gradually improved, and the patient was eventually discharged on the 10th day. Discussion: Vigilant examination of the H&N region searching for a primary source is paramount, but LS following infections in the gastrointestinal or uro-genital tracts has also been described. A high index of suspicion is required for diagnosis, especially in patients with unresolving pharyngitis with a unilateral neck swelling, and septicaemia. Early resuscitation and treatment with broad-spectrum parenteral antimicrobials are important for favourable outcome. Conclusion: LS is well known to specialists in the H&N region, but other disciplines like general surgery, urology, or obstetrics and gynaecology might also rarely encounter the disease. We present a case of LS complicating a perianal abscess that was successfully treated with good outcome. Keywords: Lemierre’s syndrome, Thrombophlebitis, Internal jugular vein, Perianal abscess, Sepsis

  2. Ellis–Van Creveld syndrome in siblings: A rare case report

    Directory of Open Access Journals (Sweden)

    Sabitha Gokulraj

    2016-01-01

    Full Text Available Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.

  3. Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report.

    Science.gov (United States)

    Momen, Ali Akbar; Momen, Mehdi

    2015-01-01

    Objective Approximately 5-10% of preschool age children are considered developmentally disabled. Brain Magnetic Resonance Imaging (MRI) plays a key role in the diagnostic evaluation in these children. Many congenital or acquired brain anomalies are revealed with MRIs. Although the majority of these abnormalities are sporadic but patients with subcortical band heterotopia or double cortex syndrome have sex-linked inheritance. We are going to present the first case in Iran from Ahvaz city, which was presented with status epilepticus associated with developmental delay and finally diagnosed as double cortex syndrome, because band heterotopia cases especially for continuous or generalized form is rare. A 4.5-year-old developmentally delayed girl was admitted for generalized tonic clonic seizure attack of 1 hr, upward gaze, locked mouth, and urinary incontinence (status epilepticus) in the child neurology ward. She had a history of recurrent seizures that started as febrile seizures since she was 12 months of age and had frequent admissions for having recurrent seizure attacks. She was the only child of consanguineous parents with negative family history of any neurologic problems. She was a product of uneventful term pregnancy, vaginal delivery with a low Apgar score at birth who was admitted for six days in the neonatal ward for hypotonia and cyanosis. At 4.5 years of age, she had HC: 45cm (spike-wave discharges. A brain MRI showed corpus callosal dysplasia, generalized band heterotopia, and polymicrogyria. She was discharged home with oral valproate and regular outpatient follow-ups. In the diagnostic evaluation of developmentally delayed and epileptic children, a brain MRI is strongly recommended for accurate diagnosis of anomalies such as neuronal migration disorders (band heterotopia) and others, because appropriate therapeutic management, prognosis, prevention, and genetic counseling for prenatal diagnosis are dependent on definite diagnosis of the proband case.

  4. [A case of Churg-Strauss syndrome with subarachnoid hemorrhage].

    Science.gov (United States)

    Ito, Miiko; Kato, Naoki; Su, Ching-Chan; Kayama, Takamasa

    2014-03-01

    Churg-Strauss syndrome (CSS) is a vasculitis syndromes and is only rarely complicated by subarachnoid hemorrhage. In the current report, we describe a case of CSS with subarachnoid hemorrhage, which showed a favorable outcome following conservative treatment. A 68-year-old man with CSS on maintenance steroid therapy underwent MRI/A during tinnitus aggravation, and showed dilation of the left middle cerebral artery and stenosis of the peripheral area of the right vertebral artery. After 2 months, he presented sudden pain in the occipitocervical area, and CT revealed subarachnoid hemorrhage. Intracranial 3D CT-A and MRI/A showed the development of a protrusion at the base of the left anterior cerebral artery. Although both findings suggested cerebral artery dissection, the source of hemorrhage could not be identified. The 2009 Japanese Guidelines for the Management of Stroke recommends early diagnosis and treatment of hemorrhagic cerebral artery dissection because of the high risk of re-bleeding. However, considering the risks of vasculitis aggravation, development of systemic complications, and recurrence, conservative treatment was selected. In addition, owing to the risk of complications associated with the frequent use of iodinated contrast agents and angiography procedures, patient was followed up using MRI. His course was favorable, and he was discharged despite mild right abducens paralysis. When patients with hemorrhagic cerebral artery dissection have a history of allergic diseases, CCS should be considered; conservative treatment consisting of rest, strict blood pressure control, and steroid therapy may be the most appropriate option for certain patients.

  5. A case of aortitis syndrome diagnosed by digital subtraction angiography

    International Nuclear Information System (INIS)

    Tamaki, Atsushi; Sakai, Masashi; Yano, Kimio

    1984-01-01

    A 45-year-old female was admitted to our hospital with complaints of anemia, hypertension, and a dull, throbbing pain in the right side of the neck. On physical examination, a pulsating tumor in the right side of the neck and a ''to-and-fro'' murmur at the right 2nd intercostal space were noted. Laboratory tests revealed ESR 90 mm/hour and CRP 5+. Digital subtraction angiography (DSA) showed an aneurysm distal to the narrowing of the right common carotid artery, in addition to winding and narrowing of the right vertebral and the left common carotid arteries. These findings are typical of Type I aortitis syndrome. Aortogram showed aortic regurgitation (AR). Furthermore, we found the presence of HLA Bw52 and a conspicuous increase of tromboxane B 2 . Treatment involving a combination of prednisolone, azathioprine and estriol was effective, resulting in marked improvement of the patient's general condition as well as laboratory test results. In cases of aortitis syndrome combined with an aneurysm of a large artery and AR, direct opacification of the aorta with a catheter is occasionally hazardous and is difficult to perform repeatedly. DSA is useful in such circumstances because it can be performed repeatedly with little risk and it offers an image as clear as these obtained by direct injection of contrast medium in the aorta. (author)

  6. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report.

    Science.gov (United States)

    Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

    2017-09-01

    Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Cytogenetic testing detected the presence of a complete trisomy 21. A combination of PCR and Southern blot analysis was utilized to document the presence of the FMR1 full mutation. The patient has physical characteristics and behavioural disturbances typical of both FXS and DS, which were confirmed by molecular testing. Her treatment plan included a trial of sertraline because of the severity of her shyness and lack of language. She had an excellent response to sertraline with improvement in shyness and social interactions, particularly with family members. In this study, we report the case of a woman with both FXS and DS, which is the fifth case of FXS and DS in the world's literature. The patient is from Ricaurte, a small town in Colombia, South America, where there is the world's highest prevalence for FXS. © 2016 John Wiley & Sons Ltd.

  7. Staphylococcal scalded skin syndrome in a 4-year-old child: a case report.

    Science.gov (United States)

    Haasnoot, P J; De Vries, A

    2018-01-29

    Staphylococcal scalded skin syndrome is an exfoliating skin disease which primarily affects children. Differential diagnosis includes toxic epidermal necrolysis, staphylococcal scalded skin syndrome, epidermolysis bullosa, and Stevens-Johnson syndrome. Staphylococcal scalded skin syndrome primarily affects children and can cause serious morbidity. In this case report we highlight the case of a 4-year-old Caucasian boy. Diagnostic and therapeutic challenges are discussed. Differential diagnoses are considered and therapy is described and discussed. The latest treatment options are used and described. Successful results are achieved in this case due to timely and correct management. Some therapeutic options are widely used without thorough research bases. This case report highlights staphylococcal scalded skin syndrome and its treatment, and future challenges. Further research is warranted and this case report aims to further research in exfoliating skin disorders.

  8. Prader-Willi Syndrome: A Case Study and Parent Perspective.

    Science.gov (United States)

    Glaspy, Erin; Foge, Julie

    2015-08-01

    Having a newborn diagnosed with a rare disorder is fraught with many challenges and opportunities for families and healthcare providers alike. This article presents one mother's journey through the daily blessings and challenges of having a child with a rare disorder. Storytelling and reflection interwoven with a case presentation. Prader-Willi syndrome can be a diagnosis that is missed in the immediate postpartum period. Careful assessment and evaluation of the infant is needed. Attention to detail will support an accurate and timely diagnosis. Those involved in the care of infants in the neonatal intensive care unit with special needs owing to a rare disorder must guide families through the difficult process of establishing a diagnosis and coping with the short- and long-term implications of that diagnosis. Research about the needs of families with children with rare diseases is sorely needed. Finding strategies to best support these families is an area of great need.

  9. Beckwith–Wiedemann syndrome (BWS): A case report and literature ...

    African Journals Online (AJOL)

    Beckwith-Wiedemann Syndrome (BWS), also known as the EMG (Exomphalos, Macroglossia, Gigantism) syndrome was recognised independently by Beckwith in 1963 and Wiedemann in 1964 and is now a well established entity having been reported in more than two hundred individuals1,2,3. It constitutes a wide ...

  10. Trans-Catheter Therapy of Lutembacher Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hossein Nough

    2011-05-01

    Full Text Available Lutembacher syndrome refers to the rare combination of a congenital atrial septal defect and acquired mitral stenosis. Traditionally, Lutembacher syndrome has been corrected by surgical treatment. We describe two patients treated percutaneouly with a combined Inoue balloon valvuloplasty and septal defect closure using the Amplatzer septal occlusion device.

  11. 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.

  12. Short Bowel Syndrome, a Case of Intestinal Rehabilitation

    Directory of Open Access Journals (Sweden)

    Dianna Ramírez Prada

    2015-05-01

    Full Text Available Case: The objective is to present the successful experience of multidisciplinary management of a patient with short bowel syndrome and intestinal failure with progression to intestinal adaptation. This is a newly born premature with intestinal atresia type IV with multiple intestinal atresia who evolved to intestinal failure and required managed with prolonged parenteral nutritional support, multiple antibiotic schemes, prebiotics, multivitamins, enteral nutrition with elemental formula to achieve their adaptation intestinal until lead to a normal diet. The evolution of these patients intestinal failure is a challenge for the health team, as it not only involves the surgical management of your condition if not basic nutritional support, fluid and electrolyte balance, hepatic dysfunction cholestasis associated infections etc. Discussion: Short bowel syndrome with progression to intestinal failure in children is a condition whose prevalence is increasing worldwide, thanks to advances in neonatal intensive care, neonatal surgery, and nutritional support of patients with conditions such as gastroschisis, omphalocele and necrotizing enterocolitis. Despite the limitations of our health system, it is possible to offer a multidisciplinary and integrated to lead to intestinal adaptation treatment.

  13. [WHIM syndrome: a case report and literature review].

    Science.gov (United States)

    Chen, Xiao-juan; Yang, Wen-yu; Wang, Shu-chun; Guo, Ye; Liu, Fang; Qi, Ben-quan; Chang, Li-xian; Zhou, Jian-feng; An, Wen-bin; Wei, Wei; Wan, Yang; Zhu, Xiao-fan

    2013-03-01

    To study the clinical and laboratory characteristics of cases with warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. An 11-year-old boy was diagnosed as WHIM syndrome and CXCR4 gene mutation analysis was performed. Since 3 years of age, the patient had recurrent fever and persistent cough. Since 6 years of age, he had warts on his fingers, the warts increased gradually. His complete blood count showed: white blood cell (WBC) 0.65×10(9)/L, neutrophil 0.15×10(9)/L, hemoglobin 116 g/L, platelet 200×10(9)/L, reticulocyte 0.62%. Results of serum biochemical tests: total protein (TP) 72.2 g/L (reference value 60 - 80 g/L), albumin 20.4 g/L (reference value 20 - 35 g/L), gammaglobulin 20.4 g/L (reference value 20 - 35 g/L). IgG 5.56 g/L (reference value 7.51 - 15.6 g/L), IgA 0.48 g/L (reference value 0.82 - 4.53 g/L), IgM 0.29 g/L (reference value 0.46 - 3.04 g/L). Peripheral blood lymphocyte subsets: CD3(+)T lymphocyte 43.6% (reference value 64.01% - 75.95%), CD19(+)B lymphocyte 1.00% (reference value 9.02% - 14.1%). Bone marrow smears showed that many of the neutrophils had a reactive appearance, with cytoplasmic vacuolation. Most neutrophils had hypersegmentation with four or five nuclear lobules. In some cells, the filaments connecting the nuclear lobes were long. CXCR4 mutation was detected. WHIM syndrome is a rare immunodeficiency disorder with an autosomal-dominant pattern of inheritance. The disease is less progressive, and may accompany the patients' whole life.

  14. The budd-Chiari syndrome in a child: a case report and review of the literature.

    Science.gov (United States)

    Misra, Vatsala; Verma, Kachnar; Singh, Dharmendra Kumar; Misra, Sri Prakash

    2012-12-01

    The Budd-Chiari Syndrome is associated with hepatic venous outflow obstruction. This syndrome is rare in infants and children. As this syndrome is uncommon, especially in the paediatric age group, misdiagnoses and delays in the diagnosis are frequent. A high index of clinical suspicion along with a radiological aid and a histopathological correlation can lead to an early diagnosis and an appropriate management in such cases.This case report highlights the occurrence of this rare condition in the paediatric age group as well as it redefines the salient features of this syndrome.

  15. Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.

    Science.gov (United States)

    Sung, Hyunsook; And Others

    1997-01-01

    A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

  16. Cerebral venous thrombosis and secondary polycythemia in a case of nephrotic syndrome.

    Science.gov (United States)

    Nagaraju, Shankar Prasad; Bairy, Manohar; Attur, Ravindra Prabhu; Sambhaji, Charudutt Jayant

    2016-03-01

    Cerebral venous thrombosis (CVT) and polycythemia are considered as rare and life threatening complications of nephrotic syndrome. We report an unusual combination of both these complications in a case of nephrotic syndrome due to minimal change disease that was treated successfully. There was prompt and complete remission of nephrotic syndrome with steroid therapy, concurrent with complete resolution of polycythemia and CVT.

  17. Cerebral venous thrombosis and secondary polycythemia in a case of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Shankar Prasad Nagaraju

    2016-01-01

    Full Text Available Cerebral venous thrombosis (CVT and polycythemia are considered as rare and life threatening complications of nephrotic syndrome. We report an unusual combination of both these complications in a case of nephrotic syndrome due to minimal change disease that was treated successfully. There was prompt and complete remission of nephrotic syndrome with steroid therapy, concurrent with complete resolution of polycythemia and CVT.

  18. Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

    Directory of Open Access Journals (Sweden)

    Ana Rosa Rincón-Sánchez

    2012-04-01

    Full Text Available Ehlers-Danlos syndrome (EDS is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or ‘human dermatosparaxis’ is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria. Dermatosparaxis (meaning ‘tearing of skin’, which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities.

  19. A Case of Cushing’s Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Leila Pourali

    2017-11-01

    Full Text Available Cushing’s syndrome (CS occurs rarely during pregnancy. CS can be caused by prolonged abnormal exposure to excess glucocorticoids leading to special and significant signs and symptoms. It is often difficult to diagnose pathological hypercortisolism in pregnant women since some symptoms of the disease might be due to a complicated pregnancy, including preeclampsia or gestational diabetes. In this study, we report the case of a 29-year-old female who referred to our institution with hypertension, weakness, steria, and truncal obesity. Physical examination revealed cushingoid characteristic. She was also found to be 27 weeks pregnant. CS was diagnosed on the basis of abnormal serum cortisol and adrenocorticotropin hormone (ACTH levels, as well as radiologic findings. She eventually gave birth to a preterm infant via vaginal delivery. A right adrenal adenoma was diagnosed and was subsequently treated with surgical resection. The patient’s condition remained stable after the surgery.

  20. Antithyroid Arthritis Syndrome: A Case Report and Review of the Literature

    Science.gov (United States)

    Takaya, Kazuhiko; Kimura, Natsumi; Hiyoshi, Toru

    2016-01-01

    We herein report the case of a 38-year-old Japanese woman with antithyroid arthritis syndrome who experienced severe migratory polyarthritis after the initiation of thiamazole therapy. The patient's symptoms promptly disappeared without any sequelae after the withdrawal of the drug. Antithyroid arthritis syndrome is poorly characterized, and the findings from our literature review indicate that this syndrome exhibits serological features that are distinct from those of antithyroid agent-induced vasculitis syndrome. The absence of autoantibodies, especially anti-neutrophil cytoplasmic antibodies, may help characterize and diagnose antithyroid arthritis syndrome. Furthermore, physicians' awareness of this syndrome is essential for its diagnosis in clinical practice. PMID:27980264

  1. A case of Klippel-Feil syndrome with renal agenesis

    Directory of Open Access Journals (Sweden)

    Mehmet Karakoç

    2010-05-01

    Full Text Available Klippel-Feil syndrome (KFS is is a rare syndrome that characterized by fusion of at least two congenital vertebrae in the cervical region. The most common characteristics of KFS are short neck, low nuchal hair line and restricted joint mobility of the cervical region.Addititonal features are scoliosis, sipina bifida, cervical rib, Sprengel deformity and facial asymmetry, and renal and cardiac anomalies. In this report a 10 years old girl was admitted with complaints of short stature and abnormal neck curvature. Physical examination of the patient revealed short neck, low nuchal hair line, and Sprengel’s deformity, height hard palate, facial asymmetry and torticollis. Cervical paravertebral muscle spasm was found on the left as (+ / right (+ +. Muscle tone, muscle strength, reflexes and sensory examination were found to be normal. Radiological examination of the C4-5 and C6-7 cervical region revealed the loss of inteverebral disc spaces and block vertebra. Also there was hemivertebra anomaly and aplasia of odontoid process. Abdominal and pelvic ultrasound examination revelaed absence of right kidney. Echocardiographical examination gave no abnormality. The case was presented in order to draw attention to KFS with renal agenesia in the light of current literature.

  2. A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases.

    Science.gov (United States)

    Şiraz, Ülkü Gül; Okdemir, Deniz; Direk, Gül; Akın, Leyla; Hatipoğlu, Nihal; Kendırcı, Mustafa; Kurtoğlu, Selim

    2018-03-19

    Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood. The presented symptoms, respiratory and circulatory dysfunction, hypothalamic hypernatremia, hypothalamo-pituitary hormonal disorders such as santral hypothyrodism, hyperprolactinemia and santral early puberty are completely matched the criteria of ROHHAD syndrome. ROHHAD syndrome should be considered in differential diagnosis since it is difficult to distinguish from causes of monogenic obesity. Early identification of the disease reduces morbidity of the syndrome and patients require regular follow-up by a multidisciplinary approach.

  3. Progressive Supranuclear Palsy-like Syndrome After Aortic Aneurysm Repair: A Case Series

    Directory of Open Access Journals (Sweden)

    Sirisha Nandipati

    2013-12-01

    Full Text Available The syndrome of progressive supranuclear palsy‐like syndrome is a rare complication of ascending aortic aneurysm repair. We report two patients with videos and present a table of prior reported cases. To our knowledge there is no previously published video of this syndrome. The suspected mechanism is brainstem injury though neuroimaging is often negative for an associated infarct. We hope our report will increase recognition of this syndrome after aortic surgery, especially in patients with visual complaints.

  4. A case of Gilles de la Tourette's syndrome

    Directory of Open Access Journals (Sweden)

    Jyoti Prakash

    2015-01-01

    Full Text Available Gilles de la Tourette's syndrome is an uncommon illness associated with repetitive un-voluntary abnormal movements and utterance. It is often associated with other psychiatric morbidities. Management requires awareness of this uncommon illness, keen observation, relevant evaluation, and combination of pharmacology and psychotherapy for an optimal outcome. This case is brought out here for florid presentation and nuances of management.

  5. Anisometropic amblyopia in a case of type 2 Waardenburg syndrome

    Science.gov (United States)

    Akal, Ali; Göncü, Tugba; Boyaci, Nurefsan; Yılmaz, Ömer Faruk

    2013-01-01

    This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail. PMID:24351514

  6. Marfan Syndrome in an Iranian Family: A Case Series

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    Mohammad Hossein Davari

    2015-07-01

    Full Text Available Marfan syndrome (MFS is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons, and six grandchildren had MFS. Lens ectopia was the most common ophthalmic involvement among the family (100%. Other ocular involvements were as follows; Hypoplastic iris or ciliary’s muscle hypoplasia (50%, on gated eyeball (42%, flat cornea (30%, glaucoma and cataract (25%, retinal detachment (16%. Three members of the family underwent eye surgery including lens extraction, glaucoma surgery and retinal surgery.

  7. Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.

    Science.gov (United States)

    Akal, Ali; Göncü, Tugba; Boyaci, Nurefsan; Yılmaz, Ömer Faruk

    2013-12-18

    This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail.

  8. A case report of Factitious Disorder (Munchausen Syndrome by proxy

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    Mehdi Shirzadifar

    2014-09-01

    Full Text Available Background: In Factitious Disorder by proxy, one person (perpetrator induces the disease in another person, thereby seeking emotional needs during the treatment process Diagnosis of this disorder is very difficult and there is not much consensus over it among experts. Lack of timely diagnosis of this disorder may lead to serious harms in patients. Case presentation: We will introduce a 19 year-old boy with mental retardation and history of multiple admissions to psychiatric, internal, urology and surgery wards. He has a 12 year-old sister and a 4 year-old brother, both with history of multiple admissions to pediatrics and internal wards. The father of family was 48 years old with chronic mental disorder, drug dependency and history of multiple admissions to medical, psychiatry and neurology wards. The mother of this family was diagnosed with munchausen syndrome by proxy.

  9. Clozapine-induced rabbit syndrome: a case report

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    Cicek Hocaoglu

    2009-10-01

    Full Text Available Rabbit syndrome (RS is an antipsychoticinduced rhythmic motion of the mouth/lips resembling the chewing movements of a rabbit. The movement consists of a vertical-only motion, at about 5 Hz, with no involvement of the tongue. Long-term exposure to typical antipsychotics has clearly been associated with RS, but little is known of the risk of RS due to exposure to newer atypical antipsychotics. There have been isolated reports of RS in patients treated with the atypical agents risperidone, aripiprazole, olanzapine, and clozapine. We present the case history of a 44-year old female patient treated for paranoid schizophrenia for 22 years and RS during her last 10-month clozapine treatment. Background information from the literature is also discussed.

  10. Ogilvie's syndrome in a case of myxedema coma.

    Science.gov (United States)

    Yanamandra, Uday; Kotwal, Narendra; Menon, Anil; Nair, Velu

    2012-05-01

    Ogilvie's syndrome [acute colonic pseudo-obstruction (ACPO)] presents as massive colonic dilatation without a mechanical cause, usually in critically ill patients due to imbalanced sympathetic and parasympathetic activity. The initial therapy remains conservative with supportive measures (correction of metabolic, infectious or pharmacologic factors) followed by neostigmine and decompressive colonoscopy. Surgery is reserved for patients with clinical deterioration or with evidence of colonic ischemia or perforation. A 60-year-old lady presented with fever, altered sensorium, obstipation, bradycardia and abdominal distension. Investigation revealed hyponatremia and acute colonic pseudo-obstruction. Supportive measures and decompressive colonoscopy were not of great benefit. Thyroid profile was suggestive of primary hypothyroidism. Colonic motility was restored only on starting thyroxin. The case is illustrative of the need to consider hypothyroidism, a common endocrine disorder, in the differential diagnosis of Ogilvie's.

  11. Ogilvie′s syndrome in a case of myxedema coma

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    Uday Yanamandra

    2012-01-01

    Full Text Available Ogilvie′s syndrome [acute colonic pseudo-obstruction (ACPO] presents as massive colonic dilatation without a mechanical cause, usually in critically ill patients due to imbalanced sympathetic and parasympathetic activity. The initial therapy remains conservative with supportive measures (correction of metabolic, infectious or pharmacologic factors followed by neostigmine and decompressive colonoscopy. Surgery is reserved for patients with clinical deterioration or with evidence of colonic ischemia or perforation. A 60-year-old lady presented with fever, altered sensorium, obstipation, bradycardia and abdominal distension. Investigation revealed hyponatremia and acute colonic pseudo-obstruction. Supportive measures and decompressive colonoscopy were not of great benefit. Thyroid profile was suggestive of primary hypothyroidism. Colonic motility was restored only on starting thyroxin. The case is illustrative of the need to consider hypothyroidism, a common endocrine disorder, in the differential diagnosis of Ogilvie′s.

  12. Idiopathic hypereosinophilic syndrome associated with rheumatoid arthritis A case report

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    P. Quattrocchi

    2011-09-01

    Full Text Available The idiopathic hypereosinophilic sindrome (HES is a disease characterized by persistent blood eosinophilia (> 1500 eosinophils/mm3 > 6 months-in absence of other ethiologies for eosinophilia (parasitic, allergic, immunological or malignant diseases-associated with multiple organ involvement (heart, lung, central nervous system, skin, bone marrow, gastrointestinal tract. Reports on rheumatologic manifestations in patients with HES are very rare. In the case we report a typical rheumatoid arthritis developed in a 58-year-old woman with HES treated with glucocorticoids. Because of the marked glucocorticoids side effects shown by the patient(cushingoid habitus, hyperglycemia, we stopped this treatment and replaced it at first by methotrexate and later by cyclosporin, both of them associated with sulfasalazine. These drugs revealed very efficacious both on articular pathology and on the clinical and laboratory manifestations of HES. These data suggest that common pathogenetic mechanisms are likely acting in rheumatoid arthritis and idiopathic hypereosinophilic syndrome.

  13. A Rare Case of Michelin Tire Baby Syndrome in a Newborn.

    Science.gov (United States)

    Ramphul, Kamleshun; Mejias, Stephanie G; Ramphul-Sicharam, Yogeshwaree

    2018-02-24

    Kunze-Riehm syndrome also known as Michelin tire baby syndrome (MTBS) is a rare genetic condition with a characteristic generalized folding of excess skin. The diagnosis is usually made based on clinical symptoms. There are approximately only 30 cases reported in the literature and some cases were associated with non-cutaneous anomalies as well. Herein, we report a case of MTBS in a five-day-old male of Iraqi origin.

  14. Acute myeloblastic leukemia-associated Marfan syndrome and Davidoff-Dyke-Masson syndrome: a case report

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    Ahmet Faik Öner

    2008-12-01

    Full Text Available We present herein a 23-year-old man with acute myeloblastic leukemia (AML associated with Davidoff-Dyke-Masson syndrome (DDMS and Marfan syndrome (MS. The diagnosis of DDMS was based on findings including left facial asymmetry, left hemiparesis, mental retardation, right cerebral hemiatrophy, dilatation of the ipsilateral lateral ventricle and calvarial thickening. The diagnosis of MS was based on clinical findings including tall stature, myopia, retinitis pigmentosa, blue scleras, scoliosis, pectus excavatum, arachnodactyly and low ratio of upper/lower body segment. The patient developed hepatosplenomegaly, gingival hypertrophy and pancytopenia. Peripheral blood film and bone marrow examination showed that most of nucleated cells were blasts; immunophenotype of those cells showed CD11+, CD13+, CD14+, CD33+ and HLA-DR+. These findings confirmed the diagnosis of AML (FAB-M5. After induction chemotherapy, remission was obtained. To the best of our knowledge, our case is the third report of AML in MS syndrome, while AML associated with DDMS and MS has not been previously reported in the literature.

  15. GITELMAN SYNDROME AND PREGNANCY- A RARE CASE REPORT

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    Venkatachalam Sibiya

    2017-09-01

    Full Text Available PRESENTATION OF CASE A 22 years old G2 P1 D1 came with complaints of shivering of both upper limb and lower limb. She was diagnosed with Gitelman syndrome in previous pregnancy. Previous was a preterm delivery due to polyhydramnios and the baby died at 12 days of life due to some congenital malformation of heart. In previous pregnancy, patient presented with paralysis at 6 months of gestation and was treated conservatively by correcting the electrolytes level. In the present pregnancy, patient had persistent hypokalaemia and hypomagnesaemia, which was treated. Anomaly scan was done. No gross anomaly was detected. Patient is symptomatically better and she is continuing her pregnancy, hope better outcome since GS has no adverse effect on pregnancy.

  16. Anorexia Nervosa and Refeeding Syndrome. A Case Report

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    Kohji Azumagawa

    2007-01-01

    Full Text Available This is a case story of a 14-year-old girl with severe anorexia nervosa (AN (158 cm, 28 kg, –44.1% ideal body mass index, admitted with purpura, edema, and general fatigue. We treated her carefully and paid particular attention to prevent development of refeeding syndrome (RS, and her body weight increased satisfactorily. However, RS (edema, hypoalbuminemia, and heart failure occurred despite careful treatment. We used albumin and diuretics for treatment of RS, but severe liver damage resulted. RS was aggravated by the medical treatment. More attention should have been paid to her weight gain and medical treatment should have been initiated more slowly to prevent dramatic changes in the patient's fluid and electrolyte status.

  17. Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.

    Science.gov (United States)

    Franco, E; Hodgson, S; Lench, N; Roberts, G J

    1995-03-01

    A case of Nance-Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance-Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2-p22.3. The proband had congenital cataract microphthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamel pitting hypoplasia. The region Xp21.2-p22.3 also contains the tooth enamel protein gene, amelogenin (AMGX). Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome.

  18. Conundrums in neurology: diagnosing serotonin syndrome - a meta-analysis of cases.

    Science.gov (United States)

    Werneke, Ursula; Jamshidi, Fariba; Taylor, David M; Ott, Michael

    2016-07-12

    Serotonin syndrome is a toxic state, caused by serotonin (5HT) excess in the central nervous system. Serotonin syndrome's main feature is neuro-muscular hyperexcitability, which in many cases is mild but in some cases can become life-threatening. The diagnosis of serotonin syndrome remains challenging since it can only be made on clinical grounds. Three diagnostic criteria systems, Sternbach, Radomski and Hunter classifications, are available. Here we test the validity of four assumptions that have become widely accepted: (1) The Hunter classification performs clinically better than the Sternbach and Radomski criteria; (2) in contrast to neuroleptic malignant syndrome, the onset of serotonin syndrome is usually rapid; (3) hyperthermia is a hallmark of severe serotonin syndrome; and (4) serotonin syndrome can readily be distinguished from neuroleptic malignant syndrome on clinical grounds and on the basis of medication history. Systematic review and meta-analysis of all cases of serotonin syndrome and toxicity published between 2004 and 2014, using PubMed and Web of Science. Two of the four assumptions (1 and 2) are based on only one published study each and have not been independently validated. There is little agreement between current criteria systems for the diagnosis of serotonin syndrome. Although frequently thought to be the gold standard for the diagnosis of the serotonin syndrome, the Hunter criteria did not perform better than the Sternbach and Radomski criteria. Not all cases seem to be of rapid onset and only relatively few cases may present with hyperthermia. The 0 differential diagnosis between serotonin syndrome and neuroleptic malignant syndrome is not always clear-cut. Our findings challenge four commonly made assumptions about serotonin syndrome. We propose our meta-analysis of cases (MAC) method as a new way to systematically pool and interpret anecdotal but important clinical information concerning uncommon or emergent phenomena that cannot be

  19. A Case of Miller Fisher Syndrome, Thromboembolic Disease, and Angioedema: Association or Coincidence?

    OpenAIRE

    Salehi, Nooshin; Choi, Eric D.; Garrison, Roger C.

    2017-01-01

    Patient: Male, 32 Final Diagnosis: Miller Fisher syndrome Symptoms: Ataxia ? headache ? ophthalmoplegia Medication: ? Clinical Procedure: Plasmapheresis Specialty: Neurology Objective: Rare co-existance of disease or pathology Background: Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1?5% of all Guillain-Barre cases in Wes...

  20. Symptomatic Cushing's syndrome and hyperandrogenemia in a steroid cell ovarian neoplasm: a case report.

    Science.gov (United States)

    Sedhom, Ramy; Hu, Sophia; Ohri, Anupam; Infantino, Dorian; Lubitz, Sara

    2016-10-12

    Malignant steroid cell tumors of the ovary are rare and frequently associated with hormonal abnormalities. There are no guidelines on how to treat rapidly progressive Cushing's syndrome, a medical emergency. A 67-year-old white woman presented to our hospital with rapidly developing signs and symptoms of Cushing's syndrome secondary to a steroid-secreting tumor. Her physical and biochemical manifestations of Cushing's syndrome progressed, and she was not amenable to undergoing conventional chemotherapy secondary to the debilitating effects of high cortisol. Her rapidly progressive Cushing's syndrome ultimately led to her death, despite aggressive medical management with spironolactone, ketoconazole, mitotane, and mifepristone. We report an unusual and rare case of Cushing's syndrome secondary to a malignant steroid cell tumor of the ovary. The case is highlighted to discuss the complications of rapidly progressive Cushing's syndrome, an underreported and often unrecognized endocrine emergency, and the best available evidence for treatment.

  1. Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-.

    Science.gov (United States)

    Park, Jin Suk; Baek, Chong Wha; Kang, Hyun; Cha, Su Man; Park, Jung Won; Jung, Yong Hun; Woo, Young-Cheol

    2010-04-01

    A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction. General anesthesia has several potential hazards to patients with MELAS syndrome, such as malignant hyperthermia, hypothermia, and metabolic acidosis. In this case, anesthesia was performed with propofol, remifentanil TCI, and atracurium without any surgical or anesthetic complications. We discuss the anesthetic effects of MELAS syndrome.

  2. Seip-lawrence Syndrome (Three Cases in a Family

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    B.S.N. Reddy

    1986-01-01

    Full Text Available A, rare episode of Seip-Lawrence syndrome manifesting in all three case siblings of consanpinous parents is reported. Two children we′re male and one female. They exhibited low intelligence,′ gaunt facies, depressed bridge of nose, large low-sct ears, thick lips and protruberant abdomen. Skin was showing hypermelanosis, hypertrichosis, absence of subcutaneous fat and acan nigricaFNx01s with′ very prominent perianal rUgO6itiS In addition, the first child was short statured having hypertrophic Clitoris, hepatomcoy, left ventricular hypertro hy, hyperglycaemia and glycossuria- without ketoacidosis. The second child was, having enlargement of penis, left ventricular hypertrophy,,hepatospienomegaly and abnormal GTT. The third and the youngest child was having only cutaneous changes and no viscoromegaly or biochemical abnormality. Nou Of these patients were having gigantism and advanced bone age.

  3. Hantavirus pulmonary syndrome clinical findings: evaluating a surveillance case definition.

    Science.gov (United States)

    Knust, Barbara; Macneil, Adam; Rollin, Pierre E

    2012-05-01

    Clinical cases of hantavirus pulmonary syndrome (HPS) can be challenging to differentiate from other acute respiratory diseases, which can lead to delays in diagnosis, treatment, and disease reporting. Rapid onset of severe disease occurs, at times before diagnostic test results are available. This study's objective was to examine the clinical characteristics of patients that would indicate HPS to aid in detection and reporting. Test results of blood samples from U.S. patients suspected of having HPS submitted to the Centers for Disease Control and Prevention from 1998-2010 were reviewed. Patient information collected by case report forms was compared between HPS-confirmed and test-negative patients. Diagnostic sensitivity, specificity, predictive values, and likelihood ratios were calculated for individual clinical findings and combinations of variables. Of 567 patients included, 36% were HPS-confirmed. Thrombocytopenia, chest x-rays with suggestive signs, and receiving supplemental oxygenation were highly sensitive (>95%), while elevated hematocrit was highly specific (83%) in detecting HPS. Combinations that maximized sensitivity required the presence of thrombocytopenia. Using a national sample of suspect patients, we found that thrombocytopenia was a highly sensitive indicator of HPS and should be included in surveillance definitions for suspected HPS. Using a sensitive suspect case definition to identify potential HPS patients that are confirmed by highly specific diagnostic testing will ensure accurate reporting of this disease.

  4. Churg-Strauss syndrome: a case with unusual manifestations

    International Nuclear Information System (INIS)

    Restrepo, Mauricio; Gonzalez, Luis Alonso; Vasquez, Gloria

    2008-01-01

    Churg-Strauss syndrome, a necrotizing systemic vasculitis which involves the small and (more rarely) the medium-sized vessels, is a primary vasculitis strongly associated with anti neutrophil cytoplasm antibodies (ANCA). It is characterized by the presence of asthma, eosinophilia and extravascular eosinophilic granulomas. Herein, we report a 36-year-old woman with a history of late onset asthma and allergic rhinitis who developed central nervous system involvement, peripheral neuropathy, leucocytoclastic vasculitis and eosinophilia. Interestingly, unusual clinical manifestations of Churg-Strauss syndrome such as mesenteric micro aneurysms and jaw claudication were present in this particular patient. A brief review of the literature of Churg-Strauss syndrome is presented.

  5. Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

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    Xie Ying

    2012-05-01

    Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.

  6. Clinical picture and treatment implication in a child with Capgras syndrome: a case report

    OpenAIRE

    Mazzone, Luigi; Armando, Marco; De Crescenzo, Franco; Demaria, Francesco; Valeri, Giovanni; Vicari, Stefano

    2012-01-01

    Abstract Introduction Capgras syndrome is a delusional misidentification syndrome characterized by the patient’s belief that his or her relatives have been replaced by impostors. Case presentation Here we describe the clinical picture and the therapeutic approach to an 11-year-old Caucasian girl with Capgras syndrome. A complete psychopathological assessment was conducted during the acute phase, at one month, two months and six months since diagnosis. Conclusion Subsequent follow-up evaluatio...

  7. Bilateral uveitis and Usher syndrome: a case report.

    Science.gov (United States)

    Benson, Matthew D; MacDonald, Ian M

    2015-03-15

    Usher syndrome is a genetically heterogeneous condition and represents the most common cause of inherited combined vision and hearing loss. Deficits manifest as sensorineural hearing loss that typically develops at a young age and retinitis pigmentosa that can lead to peripheral vision loss and night blindness. As a result, this syndrome can have a significant impact on a patient's quality of life. Previous studies have described an association between Usher syndrome and Fuchs' heterochromic iridocyclitis, a form of non-granulomatous uveitis that generally presents in a unilateral manner. We present a rare finding of bilateral uveitis and, to the best of our knowledge, the first report of granulomatous uveitis as a feature in a patient with Usher syndrome. A 45-year-old Caucasian woman with a known history of retinitis pigmentosa presented to our clinic with suspected Usher syndrome, given her report of long-standing hearing loss. Aside from a mild loss in visual acuity, our patient was otherwise asymptomatic. Visual field testing, audiology and electroretinography findings supported the diagnosis of Usher syndrome. With slit lamp examination she was found to have bilateral keratic precipitates, with large, greasy-white, mutton-fat keratic precipitates on the endothelial surface of her left eye. A thorough work-up that included blood tests and imaging was negative for an alternative cause of her uveitis. We present a rare finding of bilateral uveitis and what we believe to be the first reported instance of mutton-fat keratic precipitates and granulomatous uveitis as a feature in a patient with Usher syndrome. By identifying atypical presentations of the disease, we hope to contribute to the range of ophthalmic conditions that may be seen in association with Usher syndrome.

  8. Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome

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    K Nagaraju

    2011-01-01

    Full Text Available Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order. We report a case of a 12 year old child and a mother showing variations in the dentofacial tissues clinically and radiographically. Subsequently, the application of digital software [Dolphin Imaging 11] enabled us to solve out the case as Crouzon syndrome by analyzing the skeletal and soft tissue alterations. An update of the effects of this syndrome on various systems and dentofacial features with emphasis on tooth abnormalities is documented.

  9. Optic nerve histopathology in a case of Wolfram Syndrome

    DEFF Research Database (Denmark)

    Ross-Cisneros, Fred N; Pan, Billy X; Silva, Ruwan A

    2013-01-01

    Mitochondrial dysfunction in Wolfram Syndrome (WS) is controversial and optic neuropathy, a cardinal clinical manifestation, is poorly characterized. We here describe the histopathological features in postmortem retinas and optic nerves (ONs) from one patient with WS, testing the hypothesis...

  10. Gorlin-Goltz syndrome and neoplasms: a case study.

    Science.gov (United States)

    Lopes, Nilza N F; Caran, Eliana M; Lee, Maria Lucia; Silva, Nasjla Saba; Rocha, André Caroli; Macedo, Carla R D

    2010-01-01

    Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms, such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. To describe a twelve-year-old patient with Gorlin-Goltz syndrome, with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Bifid ribs as well as mandibular and maxillar OKC were also diagnosed Conclusion: The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations nd malignant neoplasias.

  11. The MEA syndrome - a contribution based on pictorial case records

    International Nuclear Information System (INIS)

    Brandstetter, K.; Luttke, G.; Golder, W.

    1991-01-01

    Multiple endocrine adenomatosis is defined as being a hereditary, pluriglandular syndrome associated with hyperplastic and neoplastic changes. The range of methods used included sonography, magnetic resonance tomography and angiography. (GDG) [de

  12. Leg ulcer in Werner syndrome (adult progeria): a case report.

    Science.gov (United States)

    Fumo, Giuseppe; Pau, Monica; Patta, Federico; Aste, Nicola; Atzori, Laura

    2013-03-15

    Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results.

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

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    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.

  14. A Nonfatal Case of Dobrava Hantavirus Hemorrhagic Fever with Renal Syndrome Combined with Hantavirus Cardiopulmonary Syndrome

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    Shemsedin Dreshaj

    2018-01-01

    Full Text Available Among hantaviruses (HTNV, 22 are known as pathogenic for humans. HTNV can cause two clinical entities: hemorrhagic fever with renal syndrome (HFRS and hantavirus pulmonary syndrome or hantavirus cardiopulmonary syndrome (HCPS. In most countries of Eastern Europe as well as in Kosovo, HTNV infection is presented mainly as HFRS. Here, we report a 20-year-old man with HFRS and HCPS caused by Dobrava hantavirus strain, successfully treated in Intensive Care Unit of Infectious Diseases Clinic, University Clinical Center of Kosovo. In HFRS endemic areas, patients with acute respiratory distress syndrome need to be evaluated for Dobrava hantavirus strain as a possible causative agent.

  15. A Case Report of Mauriac Syndrome: Diabetic Dwarfs.

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    Jaydeep A. Patel

    2015-12-01

    Full Text Available Introduction: Mauriac syndrome is a severe form of growth retardation seen in patients with poorly controlled type 1 diabetes mellitus characterized by growth failure, delayed puberty, hepatomegaly and Cushingoid features. It is often referred to as diabetic dwarfism. The actual cause is unknown but is probably a combination of factors including inadequate glucose in the tissues, decreased IGF-1 and growth hormone levels, impaired bioactivity of the hormones, a circulating hormone inhibitor, resistant or defective hormone receptors, especially with the use of premix insulin. Case Report: We report a case of 15 year old female, known case of type 1 diabetes mellitus since the age of 5 years, presented to us with diabetic ketoacidosis. She had multiple similar episodes in the past. She was on premix insulin (30/70 and tablet metformin but had poor compliance to the treatment. On examination she was found to be significantly short for her age (height 129 cm, less than 3rd percentile and weight was 27 kg (less than 3rd percentile with cushingoid features (round face and protuberant abdomen. She was at Tanner stage P1. On detailed laboratory evaluation, IGF-1 levels were decreased (64, LH levels were below normal limits (0.2 and FSH levels were normal, while transaminases and HbA1C (8.3 were elevated. TSH was elevated (22.6, anti-TPO was elevated (252.6 with normal FT3, FT4. Hemogram, renal function test, GH, cortisol, estradiol, prolactin, S. iron, S. ferritin were normal. Ultrasound abdomen showed fatty liver with atrophic pancreas and USG neck showed bilateral bulky thyroid lobes. Fundus examination was normal. Now for the past 1 year she is on regular insulin 8/15/8 units (BBF/BL/BD & Insulin Glargine 12 units. This led to a decrease in hepatomegaly and increase in height of 2 cms. Conclusion: Mauriac syndrome is a rare complication of poorly controlled diabetes mellitus in adolescence, but the treating physician should keep a high index of

  16. Brown′s syndrome with ocular albinism: Case report of a rare presentation and literature review

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    Soumya Nambiar

    2015-01-01

    Full Text Available We report a rare case of Brown′s syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown′s syndrome and throws some light on the etiology and association of this rare condition.

  17. Anticholinergic Toxic Syndrome Caused by Atropa Belladonna Fruit (Deadly Nightshade): A Case Report

    Science.gov (United States)

    Demirhan, Abdullah; Tekelioğlu, Ümit Yaşar; Yıldız, İsa; Korkmaz, Tanzer; Bilgi, Murat; Akkaya, Akcan; Koçoğlu, Hasan

    2013-01-01

    Atropa Belladonna poisoning may lead to anticholinergic syndrome. Ingestion of high amounts of the plant may cause lethargy, coma, and even a serious clinical picture leading to death. In this case report, we aimed to present a case with anticholinergic syndrome that developed after ingestion of the fruit called “Deadly Nightshade” in our country. PMID:27366377

  18. Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.

    OpenAIRE

    Park, S. K.; Chang, S. H.; Cho, S. B.; Baek, H. S.; Lee, D. Y.

    1994-01-01

    Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typical features of the disorder, fasting hyperinsulinemia and growth hormone deficiency.

  19. A Rare Syndrome, Pentalogy of Cantrell: Case Report

    Directory of Open Access Journals (Sweden)

    Atilla Karateke

    2014-02-01

    Full Text Available Pentalogy of Cantrell is a rare syndrome; characterized by ectopia cordis with omphalocele and anterior wall defect of thoraco-abdominal. Prognosis of fetuses with this syndrome of which etiopathogenesis is unknown, is poor. The patient who admitted to our clinic at 25.th week of gestation, had all signs of pentalogy of Cantrell in ultrasonography. In this article, we discussed the pentalogy of Cantrell with review of the literature.

  20. A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

    Science.gov (United States)

    Maltese, Paolo E; Iarossi, Giancarlo; Ziccardi, Lucia; Colombo, Leonardo; Buzzonetti, Luca; Crinò, Antonino; Tezzele, Silvia; Bertelli, Matteo

    2018-02-01

    Obesity phenotype can be manifested as an isolated trait or accompanied by multisystem disorders as part of a syndromic picture. In both situations, same molecular pathways may be involved to different degrees. This evidence is stronger in syndromic obesity, in which phenotypes of different syndromes may overlap. In these cases, genetic testing can unequivocally provide a final diagnosis. Here we describe a patient who met the diagnostic criteria for Alström syndrome only during adolescence. Genetic testing was requested at 25 years of age for a final confirmation of the diagnosis. The genetic diagnosis of Alström syndrome was obtained through a Next Generation Sequencing genetic test approach using a custom-designed gene panel of 47 genes associated with syndromic and non-syndromic obesity. Genetic analysis revealed a novel homozygous frameshift variant p.(Arg1550Lysfs*10) on exon 8 of the ALMS1 gene. This case shows the need for a revision of the diagnostic criteria guidelines, as a consequence of the recent advent of massive parallel sequencing technology. Indications for genetic testing reported in these currently accepted diagnostic criteria for Alström syndrome, were drafted when sequencing was expensive and time consuming. Nowadays, Next Generation Sequencing testing could be considered as first line diagnostic tool not only for Alström syndrome but, more generally, for all those atypical or not clearly distinguishable cases of syndromic obesity, thus avoiding delayed diagnosis and treatments. Early diagnosis permits a better follow-up and pre-symptomatic interventions. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  1. Hantavirus cardiopulmonary syndrome: a report of two cases

    OpenAIRE

    Marcos Lazaro Moreli; Vivaldo Gomes da Costa; Daiane Pereira da Silva Novaes; Enia Cristina Flor; Juliana Freitas Silva; Keila Rejane Guimarães Vilela; Cácia Régia de Paula

    2013-01-01

    Infection with hantavirus, from the family Bunyaviridae, causes hantavirus cardiopulmonary syndrome (HCPS) in the Americas. This highly lethal anthropozoonosis afflicts preferentially individuals in rural areas and is transmitted by aerosol of excreta from infected wild rodents. The aim of this study is to report the almost simultaneous occurrence of two cases of HCPS in the municipality of Jataí, state of Goiás, Brazil.

  2. Hantavirus cardiopulmonary syndrome: a report of two cases

    Directory of Open Access Journals (Sweden)

    Marcos Lazaro Moreli

    2013-10-01

    Full Text Available Infection with hantavirus, from the family Bunyaviridae, causes hantavirus cardiopulmonary syndrome (HCPS in the Americas. This highly lethal anthropozoonosis afflicts preferentially individuals in rural areas and is transmitted by aerosol of excreta from infected wild rodents. The aim of this study is to report the almost simultaneous occurrence of two cases of HCPS in the municipality of Jataí, state of Goiás, Brazil.

  3. Anesthetic management in a pediatric patient with Noonan syndrome, hypopituitarism and hypothyroidism: A case report

    Directory of Open Access Journals (Sweden)

    Abdulkadir Yektaş

    2013-06-01

    Full Text Available Noonan syndrome is a genetically transmitted autosomaldominant disorder characterized by various anatomicanomalies and pathophysiologic derangements. Associatedanomalies include hyperthelorism, ptosis, micrognathia,downward sloping palpebral fissures, low-set ears,abnormal helix of ear, deeply grooved philtrum, short and/or webbed neck, low hairline and cervical vertebral anomalies.Patients with Noonan syndrome are known to presentwith challenging airways. Tracheal intubation can bedifficult because of airway and cervical vertebral anomaliesand bag mask ventilation may be difficult because ofasymmetrical face. We present a case of anesthetic managementfor Noonan syndrome. J Clin Exp Invest 2013;4 (2: 238-241Key words: Anesthesia, general, noonan syndrome, airwaymanagement

  4. Wernicke-Korsakoff Syndrome as a Consequence of Delusional Food Refusal: A Case Study.

    Science.gov (United States)

    Hargrave, David D; Schroeder, Ryan W; Heinrichs, Robin J; Baade, Lyle E

    2015-12-01

    Wernicke-Korsakoff syndrome is caused by thiamine (vitamin B1) deficiency, typically resulting from malnutrition secondary to chronic alcohol abuse. Less often, other conditions can lead to malnutrition and Wernicke-Korsakoff syndrome. We describe a 35-year-old man who developed Wernicke-Korsakoff syndrome with a typical neurologic and neuropsychological presentation after somatic delusions led him to refuse to eat. Cases like his serve to heighten awareness of the interplay between psychiatric and neurologic conditions, their sometimes atypical pathogenesis, and the value to primary care providers of consulting with psychiatrists, neurologists, and neuropsychologists when managing patients with possible Wernicke-Korsakoff syndrome.

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

    Science.gov (United States)

    Weiss, C; Santander, J; Torres, R

    2013-01-01

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

  6. Surgical Strategy in Bouveret's Syndrome. A Case Report

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    Dénes Márton István

    2016-06-01

    Full Text Available Bouveret's syndrome is a high mechanical obstruction due to impaction of a gallstone into the duodenum, through a cholecystoduodenal fistula. It belongs to a larger group of gallstone ileus, a disease which occurs after developing a fistula between the gallbladder and the gastrointestinal tract. This is a rare complication of gallstones but because it appears in elderly people, it has a high morbidity and mortality. Patients have various symptoms and the treatment is individualized. We present here a case of a 67 years old patient, admitted in emergency, presenting symptoms of high bowel obstruction, with onset 5 days before admission. Abdominal ultrasound reveals a 5 cm stone that seems to be in the gallbladder, gastric stasis and at gastroscopy appears a foreign body impacted in the duodenum. After a short preparation the patient underwent surgery. We found a dilated stomach and a large cholecystoduodenal fistula with an impacted gallstone in the duodenum. We performed one stage surgery: cholecystectomy, extraction of the stone and suturing of the fistula. We reestablished the continuity of the intestinal tract. We performed also an ileostomy for feeding the patient and protecting the anastomoses. The postoperative evolution was favorable.

  7. Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report.

    Science.gov (United States)

    Lu, Yuxin; Milchgrub, Sara; Khatri, Gaurav; Gopal, Purva

    2017-05-01

    Lynch syndrome is a hereditary disease with germline mutation in a DNA mismatch repair gene, most often presenting with colorectal and/or endometrial carcinomas; however, the spectrum of Lynch syndrome-associated tumors is expanding. In this article, we report a case of a primary peritoneal epithelioid mesothelioma that developed in a Lynch syndrome patient 10 months after diagnosis of uterine endometrioid adenocarcinoma. To our knowledge, this is the first reported case of a Lynch syndrome patient with metachronous uterine endometrioid adenocarcinoma and primary peritoneal mesothelioma.

  8. Where Lies the Fault in Diagnosing Dhat Syndrome among Females? Understanding through a Case Study.

    Science.gov (United States)

    Kar, Sujita Kumar; Singh, Amit

    2017-01-01

    Dhat syndrome is a culture-bound syndrome of South-East Asia, common in young men. However, similar entity has also been described in female patients who attribute their symptoms to nonpathological or physiological vaginal discharge. The current diagnostic system for psychiatric illnesses does not encompass Dhat syndrome in females, and so these group of patients receive alternative diagnoses such as somatoform disorder or depression. As a result of which the focus of unique Dhat syndrome-centered management gets weakened, affecting the clinical outcome. This case study focuses on the diagnostic dilemmas related to Dhat syndrome in females and pitfalls in the current diagnostic system.

  9. Refeeding syndrome in a vegan patient with stage IV gastric cancer: a novel case.

    Science.gov (United States)

    Brown, Teresa V; Moss, Rebecca A

    2015-03-01

    The refeeding syndrome encompasses the complex physiologic state that occurs in malnourished patients who receive nutrition after a period of decreased oral intake. The hallmark of the syndrome is hypophosphatemia, though other electrolyte imbalances and severe fluid shifts are commonly involved. Patients with newly diagnosed malignancies and those undergoing treatment for malignancies are at increased risk for developing the refeeding syndrome, however there are few reported cases or other data in the oncology literature regarding this syndrome in cancer patients. ©2015 Frontline Medical Communications.

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

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    Rohan R Mahale

    2015-01-01

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

  11. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  12. A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.

    Science.gov (United States)

    Lan, Nick Si Rui; Fietz, Michael; Pachter, Nicholas; Paul, Vincent; Playford, David

    Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype. Copyright © 2018 Elsevier Inc. All rights reserved.

  13. Prune belly syndrome, splenic torsion, and malrotation: a case report.

    Science.gov (United States)

    Tran, Sifrance; Grossman, Eric; Barsness, Katherine A

    2013-02-01

    An 18 year old male with a history of prune belly syndrome (PBS) presented with acute abdominal pain and palpable left upper quadrant mass. Computed tomography (CT) of the abdomen revealed a medialized spleen with a "whirl sign" in the splenic vessels, consistent with splenic torsion. Coincidentally, the small bowel was also noted to be on the right side of the abdomen, while the colon was located on the left, indicative of malrotation. Emergent diagnostic laparoscopy confirmed splenic torsion and intestinal malrotation. Successful laparoscopic reduction of the splenic torsion was achieved, however, conversion to an open procedure by a vertical midline incision was necessary owing to the patient's unique anatomy. Open splenopexy with a mesh sling and Ladd's procedure were subsequently performed. Malrotation and wandering spleen are known, rare associated anomalies in PBS; however, both have not been reported concurrently in a patient with PBS in the literature. In patients with PBS, acute abdominal pain, and an abdominal mass, high clinical suspicion for gastrointestinal malformations and prompt attention can result in spleen preservation and appropriate malrotation management. We present a case of a teenager who presented with a history of PBS, acute abdominal pain, and a palpable abdominal mass. The patient was found to have splenic torsion and intestinal malrotation. The clinical findings, diagnostic imaging, and surgical treatment options of splenic torsion are reviewed. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report.

    Science.gov (United States)

    Tsukamoto, Masanori; Yamanaka, Hitoshi; Yokoyama, Takeshi

    2017-09-01

    Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management. In patients with short stature, the tracheal tube size may differ from what may be predicted based on age. The appropriate size ( internal diameter ) of tracheal tubes for children has been investigated. Congenital heart disease is frequently associated with Wolf-Hirschhorn syndrome. Depending on the degree and type of heart disease, careful monitoring of hemodynamics is important.

  15. Gougerot-Carteaud syndrome treated with acitretin: A case report

    Directory of Open Access Journals (Sweden)

    Betül Demir

    2017-06-01

    Full Text Available Gougerot-Carteaud syndrome (GCS is a rarely seen dermatosis characterized by reticular and pigmented plaques with a tendency to merge with each other in areas such as the neck, upper body, and axilla in young adults. A 20-year-old male patient presented to the dermatology outpatient clinic with the complaints of itching and brown patches affecting the trunk, back and the neck. He had no endocrine diseases and used no drugs. Dermatological examination revealed reticulated, hyperpigmented, verrucous papules and plaques on the anterior surface of his trunk, upper back, and neck region. No fungal elements were encountered in the potassium hydroxide examination. Histopathologically, basket-like hyperkeratosis, papillomatosis, mild acanthosis, and hyperpigmentation in the basal layer were detected. Minocycline treatment was initiated at a dose of 100 mg/daily. At the three-month follow-up visit, minocycline treatment was terminated due to lack of clinical response, and 30 mg/day acitretin treatment was initiated. The lesions showed marked improvement except for a slight hyperpigmentation in the first month of the treatment. We report here a case of GCS in which acitretin was started due to clinical unresponsiveness to minocycline treatment and, substantially, a favorable result was obtained in a short time.

  16. Severe Renal Hemorrhage in a Pregnant Woman Complicated with Antiphospholipid Syndrome: A Case Report

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    Shohei Kawaguchi

    2011-01-01

    Full Text Available Antiphospholipid syndrome is a systemic autoimmune disease with thrombotic tendency. Consensus guidelines for pregnancy with antiphospholipid syndrome recommend low-dose aspirin combined with unfractionated or low-molecular-weight heparin because antiphospholipid syndrome causes habitual abortion. We report a 36-year-old pregnant woman diagnosed with antiphospholipid syndrome receiving anticoagulation treatment. The patient developed left abdominal pain and gross hematuria at week 20 of pregnancy. An initial diagnosis of left ureteral calculus was made. Subsequently abdominal-pelvic computed tomography was required for diagnosis because of the appearance of severe contralateral pain. Computed tomography revealed serious renal hemorrhage, and ureteral stent placement and pain control by patient-controlled analgesia were required. After treatment, continuance of pregnancy was possible and vaginal delivery was performed safely. This is the first case report of serious renal hemorrhage in a pregnant woman with antiphospholipid syndrome receiving anticoagulation treatment and is an instructive case for urological and obstetrical practitioners.

  17. Measles mimicking HIV seroconversion syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Brook Gary

    2010-02-01

    Full Text Available Abstract Introduction Measles is on the rise in the United Kingdom and must be considered in the differential diagnosis of any patient presenting with fever and rash. As a highly infectious disease, identified patients must be isolated in the hospital setting. Case presentation A 28-year-old Polish woman presented ill to the accident and emergency department of a district general hospital. She had painful genital ulceration, oral soreness, fever, and a facial rash. She became hypoxic within 24 hours of presentation and began to tire, thus requiring noninvasive ventilation. Her respiratory symptoms were out of proportion to the findings of her chest radiograph, which remained virtually normal. Human immunodeficiency virus seroconversion syndrome complicated by Pneumocystis carinii pneumonia was high among the differential diagnoses. She was given cotrimoxazole, high-dose steroids, broad spectrum antibiotics, and anti fungal cover. Human immunodeficiency virus polymerase chain reaction came back as negative and her symptoms resolved within 10 days of presentation. She was taken off all treatment and discharged home feeling well. Serological measles was confirmed as part of a viral screen, but its clinical suspicion was low. Conclusion The presentation of measles in this patient was unique and atypical. With its incidence rising in the United Kingdom, measles must be increasingly considered as a differential diagnosis in patients presenting with fever and rash.

  18. Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child.

    Science.gov (United States)

    Tandon, Sandeep; Chauhan, Yashwant; Sharma, Meenakshi; Jain, Manish

    2016-01-01

    Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst. The present case describes an 11-year-old patient with some typical features of NBCCS, which were diagnosed through its oral and maxillofacial manifestations. This case emphasizes the importance of pedodontist in early recognition of the syndrome. Tandon S, Chauhan Y, Sharma M, Jain M. Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child. Int J Clin Pediatr Dent 2016;9(3):264-268.

  19. Evaluation of Retinal Changes Using Optical Coherence Tomography in a Pediatric Case of Susac Syndrome

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    Mehmet Kola

    2017-01-01

    Full Text Available Susac syndrome is a rare occlusive vasculopathy affecting the retina, inner ear and brain. The cause is unknown, although it generally affects young women. This syndrome can be difficult to diagnose because its signs can only be revealed by detailed examination. These signs are not always concomitant, but may appear at different times. This report describes a pediatric case who was diagnosed with Susac syndrome when retinal lesions were identified in the inactive period with the help of optical coherence tomography (OCT. The purpose of this case report is to emphasize the importance of OCT in clarifying undefined retinal changes in Susac syndrome.

  20. A Case of Miller Fisher Syndrome, Thromboembolic Disease, and Angioedema: Association or Coincidence?

    Science.gov (United States)

    Salehi, Nooshin; Choi, Eric D; Garrison, Roger C

    2017-01-16

    BACKGROUND Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1-5% of all Guillain-Barre cases in Western countries. Patients with Miller Fisher Syndrome usually have good recovery without residual deficits. Venous thromboembolism is a common complication of Guillain-Barre Syndrome and has also been reported in Miller Fisher Syndrome, but it has generally been reported in the presence of at least one prothrombotic risk factor such as immobility. A direct correlation between venous thromboembolism and Miller Fisher Syndrome or Guillain-Barre Syndrome has not been previously described. CASE REPORT We report the case of a 32-year-old Hispanic male who presented with acute, severe thromboembolic disease and concurrently demonstrated characteristic clinical features of Miller Fisher Syndrome including ophthalmoplegia, ataxia, and areflexia. Past medical and family history were negative for thromboembolic disease, and subsequent hypercoagulability workup was unremarkable. During the course of hospitalization, the patient also developed angioedema. CONCLUSIONS We describe a possible association between Miller Fisher Syndrome, thromboembolic disease, and angioedema.

  1. [l-arginine efficiency in MELAS syndrome. A case report].

    Science.gov (United States)

    Moutaouakil, F; El Otmani, H; Fadel, H; Sefrioui, F; Slassi, I

    2009-05-01

    Mitochondrial encephalomyopathy lactic acidosis and stoke-like episodes (MELAS) is a rare neurodegenerative disease caused by mutations of mitochondrial DNA. We report the case of a 12-year-old child with MELAS syndrome who presented with recurrent migraine-like headache and sudden blindness suggesting stroke-like episodes. Furthermore, he developed progressive muscular impairment with bilateral hearing loss. Serum lactate and pyruvate levels were elevated and the muscle biopsy showed an aspect of red-ragged fibers with Gomori trichrome. Brain imaging showed calcifications of basal ganglia on the CT scan and a parieto-occipital high signal on diffusion-weighted MRI. A genetic analysis was not performed but the presence of hearing loss in the patient's mother was suggestive of maternal transmission. Stroke-like episodes in the form of migraine-like headache and blindness were the patient's major complaint and did not improve despite analgesic drugs. After oral administration of l-arginine at the dose of 0.4mg/kg per day, stroke-like symptoms totally and rapidly disappeared. The efficiency of l-arginine in stroke-like episodes was initially reported then confirmed in a controlled study. The pathophysiology of stoke-like episodes and the mechanisms underlying the action of l-arginine are discussed.

  2. Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis.

    Science.gov (United States)

    Suzumura, H; Sakurai, K; Kano, K; Ichimura, T

    1996-10-01

    A case of Coffin-Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, the lowest reported in the world for an infant with this syndrome. Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. He was the only case who was mechanically ventilated from birth because of birth asphyxia. He died at 12 days of age because of sepsis, a poor immune system as in other extremely low birthweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin-Siris syndrome. Kyphoscoliosis is suggested as one of the important features in low birthweight cases of Coffin-Siris syndrome in previous reports and in the present case.

  3. Ascher′s syndrome: A rare case report

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    Shivcharan Lal Chandravanshi

    2015-01-01

    Full Text Available An 18-year-old Indian girl with upper lip deformity presented with on and off painless swelling of her both upper eyelids for 3 years. Clinical evaluation revealed bilateral blepharochalasis, narrowing of horizontal palpebral fissure, decreased outer intercanthal distance, iris coloboma, cleft soft palate, bifid uvula, sensorineural deafness and double upper lip. Clinical examination of the thyroid, thyroid hormone assay and ultrasonography revealed normal thyroid gland structure and function. Ascher′s syndrome was diagnosed. To our knowledge, this is the first reported case of Ascher′s syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament.

  4. A case of antenatal Bartter syndrome with sensorineural deafness.

    Science.gov (United States)

    Lee, Hyun Seung; Cheong, Hae Il; Ki, Chang-Seok

    2010-10-01

    Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Patients with BS IV have a highly variable clinical phenotype. This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with severe perinatal symptoms followed by a relatively benign course with preserved renal function after early infancy. In addition, the clinical features and the laboratory data of the patient were compared with those of previously reported patients with the same mutation.

  5. Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

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    Majid Eshgh Pour

    2013-01-01

    Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

  6. MSX1 Mutation in Witkop Syndrome; A Case Report

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    Faezeh Ghaderi

    2013-06-01

    Full Text Available The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in the proband. The parents of the patient had no dental and nail anomalies.

  7. Portal hypertension as the initial manifestation of POEMS syndrome: a case report.

    Science.gov (United States)

    Wu, Lina; Li, Yue; Yao, Fang; Lu, Chongmei; Li, Jian; Zhou, Weixun; Qian, Jiaming

    2017-01-01

    Portal hypertension has a broad differential diagnosis. POEMS syndrome is an uncommon cause of it. POEMS syndrome is a rare disease involving multiple organs. In differential diagnosis of portal hypertension, POEMS syndrome should be considered especially when other symptoms such as numbness, organomegaly, endocrine alteration and skin changes also present, as it is highlighted by our case. We report a 46-year-old Chinese male, a teacher, presenting with portal hypertension. Electromyography revealed peripheral neuropathy. Immunofixation showed monoclonal immunoglobulin A lambda protein. The diagnosis of POEMS syndrome was established. After treatment of lenalidomide combined with dexamethasone over 2 years, the patient achieved a considerable improvement. This case highlights the manifestation of portal hypertension in POEMS syndrome. Lenalidomide with or without dexamethasone is effective for portal hypertension due to POEMS syndrome, though esophageal and gastric varices seems not reversible so easily.

  8. Cornelia de-Lange syndrome - A case report

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    Charvi Chawla

    2018-01-01

    Full Text Available Cornelia de-Lange syndrome (CdLS is a rare multisystem developmental disorder characterized by psychomotor retardation and delayed growth associated with a series of malformations, including facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal abnormalities. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of syndrome so it is important for the clinician to know etiopathological aspects and characteristic features to provide health care and help improve the quality of life of affected individuals.

  9. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  10. Marfan Syndrome: A Report of Two Cases and Review

    Directory of Open Access Journals (Sweden)

    K Vinay Kumar Reddy

    2011-01-01

    Full Text Available Marfan syndrome is an autosomal dominant disorder of the connective tissues, resulting in abnormalities of the musculoskeletal system, cardiovascular system and eyes. It has a prevalence of 1 in 100,000 population and occurs in all ethnic groups. It may be familial or due to new mutation (30%, in the fibrillin gene on arm of chromosome 15. It is estimated that one person in every 3000 to 5000 has Marfan′s syndrome may have cardiovascular abnormalities and may be complicated by infective endocarditis. About 90% of Marfan patients will develop cardiac complications.

  11. Mesenteric vein thrombosis associated with Klinefelters syndrome--a case report.

    Science.gov (United States)

    Murray, F E

    1988-01-01

    A case of mesenteric vein thrombosis presenting as gastrointestinal hemorrhage in a patient with Klinefelter's syndrome is reported, an association not previously described. The diagnosis was made preoperatively and was confirmed by angiography. The patient underwent a small bowel resection and made an uneventful recovery. A possible association between Klinefelter's syndrome and a hypercoagulable state, previously suggested elsewhere, is emphasized.

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

    Directory of Open Access Journals (Sweden)

    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.

  13. Mirizzi Syndrome: A Case Report | Muthuuri | East and Central ...

    African Journals Online (AJOL)

    The classical Mirizzi Syndrome described by P. L. Mirizzi in 1948 is characterized by a cholecystocholedochal fistula arising from a calculus in the cystic duct that erodes into the common hepatic duct. The gall bladder eventually collapses due to fibrosis while the terminal bile ducts become dilated. A calculus is usually ...

  14. Ellis Van Creveld Syndrome: Report of a Case and Brief Literature Review

    OpenAIRE

    Gholamhossein Amirhakimi; Hedyeh Saneifard

    2008-01-01

    Objective: Ellis van Creveld syndrome (EvCS) is a rare autosomal recessive (AR) disorder first described in 1940. The syndrome manifests with several skeletal, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. EvCs should be differentiated from other chondrodystrophies such as achondroplasia and Morquios syndrome.Case Presentation: A nine-year old girl was referred with short stature. In physical examination her height was 105 cm. She had normal intelligence, s...

  15. Reiters syndromea case report and review of literature | Alebiosu ...

    African Journals Online (AJOL)

    The occurrence of Reiter's Syndrome is rare and not commonly reported in Nigeria. This paper reports a case of a 35yr old male Nigerian with Reiter's Syndrome, occurring 1-2 weeks after a bout of a dysenteric illness. The patient presented with fever, conjunctivitis, dysentery, urethritis and arthralgia. The joint pains ...

  16. Two cases of Cantrell's syndrome

    International Nuclear Information System (INIS)

    Yu, Yun Jeong; Yeon, Kyung Mo

    1982-01-01

    Congenital absence of the lower sternum, defect of the abdominal wall, defects of the anterior diaphragm, pericardial defects and cardiac anomalies had been described as a syndrome by Cantrell et al. Developing mechanism of the syndrome was embryologically defined. These defects arise apparently from combined anomalies of developing of the dorsal mesoderm. The authors present two cases of Cantrell's syndrome developed in one day old and eight months old female patient in which angiocardiography was done at the Department of Radiology, Seoul National University Hospital

  17. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

    Directory of Open Access Journals (Sweden)

    De Molfetta Greice Andreotti

    2002-01-01

    Full Text Available Angelman syndrome (AS and Prader-Willi syndrome (PWS are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.

  18. Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

    Science.gov (United States)

    Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

    2016-04-01

    Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  19. Primary Sjögren′s syndrome without ocular involvement: A rare case report

    Directory of Open Access Journals (Sweden)

    Tushar Phulambrikar

    2014-01-01

    Full Text Available Sjögren′s Syndrome (SS is a chronic systemic autoimmune disorder, characterized by the lymphocytic infiltration of lacrimal and salivary glands, giving rise to dry eyes (keratoconjunctivitis sicca and dry mouth (xerostomia. Primary Sjögren′s Syndrome commonly presents only with sicca manifestations; whereas, secondary Sjögren′s syndrome occurs in connection with other autoimmune rheumatic diseases. Primary Sjögren′s syndrome without ocular manifestation is rarely reported in the literature. Here we report a case of a 45-year-old female, who presented to us with complaints of dryness of mouth and dysphagia, without any ocular and systemic manifestations. On further evaluation she was diagnosed as a case of Primary Sjögren′s syndrome. With this case report, we intend to emphasize the importance of an early diagnosis of this disorder, along with a brief review of various diagnostic criteria.

  20. Endovascular treatment of nutcracker syndrome - a case report

    International Nuclear Information System (INIS)

    Rowinski, O.; Januszewicz, M.; Wojtaszek, M.; Nawrot, I.; Szmidt, J.

    2007-01-01

    The 'nutcracker' syndrome is most commonly caused by arterial compression of the left renal vein between the superior mesenteric artery and the aorta. As a consequence venous blood pressure increases within the renal pelvis, ureter and gonadal veins. This compression syndrome may be treated by endovascular stent implantation into the left renal vein. A 20 year old female patient was referred to us, suffering from pain in her left side, gross proteinuria and the suspicion of 'nutcracker' syndrome. Symptoms were present for the last 3 years. Angio MRI was performed and confirmed compression of the left renal vein between the aorta and the superior mesenteric artery. The patient was qualified for endovascular treatment. A self expandable metallic stent, diameter 16 x 40 mm was implanted into the left renal vein. Control venography confirmed good placement of the stent and a good immediate hemodynamic effect of the procedure. The patient remains symptom free in a 14 month follow up period. At present, endovascular stenting seems to be the method of choice for the treatment of the nutcracker syndrome. (author)

  1. Prune belly syndrome associated with bilateral multicystic dysplastic kidneys and urethral obstruction: A case report

    Directory of Open Access Journals (Sweden)

    Arzu Akdag

    2015-06-01

    Full Text Available Prune belly syndrome is a rare congenital disorder defined by a characteristic clinical triad: Abdominal muscle deficiency, severe urinary tract abnormalities, and bilateral cryptorchidism. We describe a preterm neonate of Prune Belly syndrome who had abdominal muscle deficiency, multicystic dysplastic kidney, urethral hypoplasia and pulmonary hypoplasia. We presented this rare case with the data gathered from the literatüre.

  2. Van Der Woude SyndromeA Report Of Two Cases | Umweni ...

    African Journals Online (AJOL)

    Two cases of Van der Woude syndrome, which presented in a mother and son are reported. The occurrence of isolated cleft palate in a sibling supports the evidence that Van der Woude syndrome is associated with a dominant autosomic gene of high penetrance and variable expressively. The occurrence of Van der ...

  3. Antithyroid Arthritis Syndrome: A Case Report and Review of the Literature

    OpenAIRE

    Takaya, Kazuhiko; Kimura, Natsumi; Hiyoshi, Toru

    2016-01-01

    We herein report the case of a 38-year-old Japanese woman with antithyroid arthritis syndrome who experienced severe migratory polyarthritis after the initiation of thiamazole therapy. The patient's symptoms promptly disappeared without any sequelae after the withdrawal of the drug. Antithyroid arthritis syndrome is poorly characterized, and the findings from our literature review indicate that this syndrome exhibits serological features that are distinct from those of antithyroid agent-induc...

  4. Case report - Achondroplastic syndrome in a West African dwarf lamb

    African Journals Online (AJOL)

    A three week old, male, West African Dwarf (WAD) lamb presented with disproportionate hind limb was diagnosed of having achondroplastic syndrome by physical and radiological examination. Physical examination showed the right hind limb was deformed at the level of the tarsus, metatarsus and phalanges. Radiological ...

  5. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

    Science.gov (United States)

    Novara, Francesca; Alfei, Enrico; D'Arrigo, Stefano; Pantaleoni, Chiara; Beri, Silvana; Achille, Valentina; Sciacca, Francesca L; Giorda, Roberto; Zuffardi, Orsetta; Ciccone, Roberto

    2013-01-01

    Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes. Here we report another patient with 5p13 duplication syndrome including NIPBL gene only. Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications. Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  6. Nutcracker Syndrome Accompanying Pelvic Congestion Syndrome; Color Doppler Sonography and Multislice CT Findings: A Case Report

    International Nuclear Information System (INIS)

    Inal, Mikail; Karadeniz Bilgili, Mihrace Yasemin; Sahin, Safa

    2014-01-01

    Nutcracker syndrome (NCS) is a rare pathology, caused by compression of the left renal vein (LRV) between the abdominal aorta (AA) and the superior mesenteric artery (SMA), due to reduction of the angle between AA and SMA. This leads to LRV varices, left gonadal vein varices and therefore, the pelvic congestion syndrome. For this reason, coexistence of NCS and pelvic congestion syndrome has been described. It manifests by hematuria, proteinuria, and nonspecific pelvic pain secondary to pelvic congestion, dyspareunia and persistent genital arousal. We report a 27-year-old woman who experienced hematuria and left flank pain. The diagnosis of NCS accompanied by pelvic congestion syndrome was missed initially, but later on the diagnosis was made by color Doppler ultrasound, abdominal computed tomography (CT) and CT angiography that were later performed. She refused interventional and surgical treatments, and was lost to follow up

  7. Superior Vena Cava Syndrome in a Patient with Small-Cell Lung Cancer: A Case Report

    OpenAIRE

    Christina Brzezniak; Bryan Oronsky; Corey A. Carter; Bennett Thilagar; Scott Caroen; Karen Zeman

    2017-01-01

    Superior vena cava (SVC) syndrome, a potential oncologic emergency, is closely associated with malignancy and right-sided lung cancer in particular. A case of SVC syndrome presenting with facial swelling, neck distension, and enlarged veins of the upper chest, which developed over a period of 5 weeks in a 46-year-old patient on a clinical trial with small-cell lung cancer, is reported. Computed tomography scan of the chest revealed slight enlargement of a superior conglomerate mediastinal lym...

  8. De-clerambault syndrome: the case report of a student and lecturer ...

    African Journals Online (AJOL)

    De-Clerambault syndrome is a condition whereby an individual believes that someone else usually of a higher social class and inaccessible is in love with him or her and unwilling to reveal it. Despite evidence to the contrary, the patient still holds unto the conviction. There are few cases of De-Clerambault syndrome1, ...

  9. Laparoscopic management of superior mesentric artery syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Makam Ramesh

    2008-01-01

    Full Text Available Superior mesentric artery syndrome is a rare cause of high small bowel obstruction, caused by compression of the transverse part of the duodenum in between the superior mesentric artery and aorta. Patients present with chronic abdominal pain, vomiting and weight loss. We report a case of superior mesenteric artery syndrome, managed laparoscopically with laparoscopic duodenojejunostomy.

  10. Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.

    Science.gov (United States)

    Biazzo, Alessio; Di Bernardo, Andrea; Parafioriti, Antonina; Confalonieri, Norberto

    2017-08-23

    Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. We report the case of a 28-year-old girl with Mazabraud syndrome associated with McCune-Albright syndrome. Our literature review shows that in these patients there is a higher risk of malignant transformation of fibrous dysplasia into osteosarcoma, confirming previous reports. Conversely, no malignant transformation has been reported for myxomas in isolated Mazabraud syndrome or in the association with McCune-Albright syndrome. We conclude that these patients should be scheduled to a close and long-term follow-up.

  11. Prune belly syndrome in uniovular twin: a new finding or a case of ...

    African Journals Online (AJOL)

    A case of Prune Belly Syndrome associated with High Anorectal Anomaly and Unilateral Lung Cyst occurring in a uniovular twin is hereby presented. The twin brother has no clinical evidence of congenital anomaly in any system. We therefore ask; is this a new finding or a case of improper documentation of data. Keywords: ...

  12. Congenital pouch colon syndrome: A report of 17 cases

    International Nuclear Information System (INIS)

    Bhat, Nisar Ahmad

    2007-01-01

    Congenital pouch syndrome (CPC) is rare condition seen in an association with anorectal malformation that occurs almost exclusively in northern India. We viewed cases seen in our institution to study aspects of clinical presentation, diagnosis, embryogeneis, and management and raise awareness of this relatively frequent entity. From March 2002 to September 2004, 17 neonates/infants (11 males and 6 females) treated for CPC associated with anorectal malformations included 13 with type IV and 4 with type I CPC. Diagnosis was made by a single large air-fluid level on the infantogram occupying more than 50% of the entire abdominal dimension. In all patients, the pouch had fistulous communication with the genitourinary system, and there were other associated anomalies as well. Of 13 patients with pouch colon type IV, 11 neonates underwent laparotomy, ligation of the fistula, excision of the colonic pouch and end colostomy as a stage I procedure. Subsequently, these patients underwent definitive surgery, i.e. abdominal posterior sagittal anorectoplasty (AP-PSARP), with or without covering colostomy. Two of the 4 patients with type I CPC underwent laparotomy, ligation of the fistula and colorrhaphy as a first-stage operation before AP-PSARP. In our series, 4 patients were diagnosed intraoperatively and were treated in accordance with their operative findings. Post-operatively, there were no major complications except wound infection in some patients. There was one death that was not related to surgery. There are variants of the anomaly, but the possibility of CPC needs to be kept in mind as a possible association with anorectal malformations. (author)

  13. A confirmed case of toxic shock syndrome associated with the use of a menstrual cup.

    Science.gov (United States)

    Mitchell, Michael A; Bisch, Steve; Arntfield, Shannon; Hosseini-Moghaddam, Seyed M

    2015-01-01

    Menstrual cups have been reported to be an acceptable substitute for tampons. These flexible cups have also been reported to provide a sustainable solution to menstrual management, with modest cost savings and no significant health risk. The present article documents the first case of toxic shock syndrome associated with the use of a menstrual cup in a woman 37 years of age, using a menstrual cup for the first time. Toxic shock syndrome and the literature on menstrual cups is reviewed and a possible mechanism for the development of toxic shock syndrome in the patient is described.

  14. Pelvic pain syndrome - successful treatment by ovarian vein embolization : a case report

    International Nuclear Information System (INIS)

    Yun, Ji Young; Hahn, Seong Tai; Lee, Jae Mun; Kim, Choon Yul; Yim, Jung Ik; Jang, Jae Soon; Kim, Sang Woo; Kim Jae Kwang; Sun, Hee Sik; Shinn, Kyung Sub

    1998-01-01

    Pelvic pain syndrome or pelvic congestion syndrome, with no apparent organic cause, is a common gynecological disorder. Ovarian varix, one of the causes of this syndrome, presents a difficult diagnostic and therapeutic problem, though surgical ligation of the ovarian vein is an effective method of treatment. although ovarian vein embolization has been recently developed as a useful alternative, no previous reports have described this procedure in Korea. We report a case of pelvic pain syndrome successfully treated by ovarian vein embolization. (author). 10 refs., 3 figs

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

    Science.gov (United States)

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

    2016-10-01

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

  16. Usher syndrome associated with Fuchs’ heterochromic uveitis: a case report

    OpenAIRE

    Turan-Vural, Ece; Turan-Vural,Ece; TORUN ACAR,Banu; Tükenmez,Nejla

    2011-01-01

    Ece Turan-Vural, Banu Torun-Acar, Nejla Tükenmez, M Şahin Sevim, Bulent Buttanri, Suphi AcarOphthalmology Clinic, Haydarpasa Numune Education and Research Hospital, Istanbul, TurkeyAbstract: We report a case of Usher syndrome in association with unilateral Fuchs' heterochromic uveitis.Keywords: Fuchs’ heterochromic uveitis, Usher syndrome, deafness, blindness

  17. A Case of Microangiopathic Antiphospholipid-Associated Syndromes during Pregnancy: Review of the Literature

    Directory of Open Access Journals (Sweden)

    Nobuhiro Suzumori

    2012-01-01

    Full Text Available Microangiopathic antiphospholipid-associated syndromes (MAPSs are reported as encompassing several conditions mainly affecting the microvasculature of selected organs: the liver in HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet; kidney, brain, and skin in TTP (thrombotic thrombocytopenic purpura. It is predominant in patients with catastrophic antiphospholipid syndrome (APS. A recent report suggests that APS is not only a thrombotic disease but also associated with microangiopathic features, and it can explain the greater prevalence of HELLP syndrome in these patients. We here report a case of MAPS during pregnancy associated with systemic lupus erythematosus (SLE in early second trimester.

  18. PRUNE BELLY SYNDROME: CASE REPORT OF A FAILED MANAGEMENT IN A LOWINCOME COUNTRY.

    Directory of Open Access Journals (Sweden)

    Marcella Schiavone

    2016-04-01

    Full Text Available Prune Belly Syndrome (PBS is a rare congenital syndrome characterized by three main features: abdominal wall flaccidity, bilateral intra-abdominal cryptorchidism, and urologic abnormalities. In this study we describe the case of a 2,600 gr baby, born at the Central Hospital of Beira, Mozambique. Our study confirms that in a low-income country only conservative management can be delivered, and therefore prognosis is worse and less effective than high-income countries.

  19. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) or hyponatraemia associated with valproic Acid : four case reports from the Netherlands and a case/non-case analysis of vigibase

    NARCIS (Netherlands)

    Beers, Erna; van Puijenbroek, Eugène P; Bartelink, Imke H; van der Linden, Carolien M J; Jansen, Paul A F

    The Netherlands Pharmacovigilance Centre Lareb received four cases of severe symptomatic hyponatraemia or syndrome of inappropriate antidiuretic hormone secretion (SIADH) in association with valproic acid use, in which a causal relationship was suspected. This study describes these cases and gives

  20. Prosthodontic management of a patient with Gardner′s syndrome: A clinical case report

    Directory of Open Access Journals (Sweden)

    Kunwarjeet Singh

    2014-01-01

    Full Text Available Gardner′s syndrome is a genetic condition demonstrating an autosomal dominant trait and characterized by the multiple colonic polyps (familial adenomatous polyposis coli with sebaceous cysts and jaw osteomas. Various dental abnormalities present in patient′s suffering with this syndrome includes multiple impacted or unerupted teeth, supernumerary teeth, hypodontia, compound odontomes and dentigerous cyst. In this case report, a patient with Gardner′s syndrome who suffered from functional and psychological problems owing to multiple impacted, unerupted teeth and hypodontia was presented. Patient was treated with a maxillary conventional overdenture opposing mandibular custom bar supported overdentures.

  1. Synovial Cyst: A Culprit for Recalcitrant Iliotibial Band Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Yeoh CSN

    2015-11-01

    Full Text Available We present the case of a 56-year old gentleman who presented with recalcitrant iliotibial band (ITB friction syndrome which did not improve with various modalities of conservative treatment. Magnetic Resonance Imaging (MRI of the affected knee did not show pathology typical of ITB friction syndrome. However, open exploration revealed a synovial cyst deep to the iliotibial band, abutting against the anterolateral capsule. The presence of distinctive clinical signs on physical examination should alert clinicians to consider knee synovial cyst as a differential diagnosis when dealing with recalcitrant ITB syndrome.

  2. Anesthetic management of a patient with Bartter’s syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Harun Aydoğan

    2012-09-01

    Full Text Available Bartter’s syndrome is a rare disorder characterized bysevere hypochloremic metabolic alkalosis, hypokalemia,hyponatremia, hyperaldosteronism, elevation in plasmarenin activity and insensitivity to angiotensin II. Electrolyteimbalances such as hypomagnesemia, hyponatremiamight make anesthetic management difficult in Barttersyndrome. A 4 years old patient underwent surgery foringuinal hernia with caudal anesthesia using bupivacaine0.25%. In this case report, it was aimed to discuss the anestheticmanagement of a patient with Bartter syndrome.Key words: Regional anesthesia, Bartter syndrome, inguinalhernia surgery, pediatric anesthesia

  3. Eagle's syndrome associated with lingual nerve paresthesia: a case report.

    Science.gov (United States)

    Dong, Zhiwei; Bao, Haihong; Zhang, Li; Hua, Zequan

    2014-05-01

    Eagle's syndrome is characterized by a variety of symptoms, including throat pain, sensation of a foreign body in the pharynx, dysphagia, referred otalgia, and neck and throat pain exacerbated by head rotation. Any styloid process longer than 25 mm should be considered elongated and will usually be responsible for Eagle's syndrome. Surgical resection of the elongated styloid is a routine treatment and can be accomplished using a transoral or an extraoral approach. We report a patient with a rare giant styloid process that was approximately 81.7 mm. He complained of a rare symptom: hemitongue paresthesia. After removal of the elongated styloid process using the extraoral approach, his symptoms, including the hemitongue paresthesia, were alleviated. We concluded that if the styloid process displays medium to severe elongation, the extraoral approach will be appropriate. Copyright © 2014 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  4. A new case of keratoconus associated with Williams-Beuren syndrome.

    Science.gov (United States)

    Viana, Melissa Machado; Frasson, Maria; Leão, Letícia Lima; Stofanko, Martin; Gonçalves-Dornelas, Higgor; Cunha, Pricila da Silva; de Aguiar, Marcos José Burle

    2013-09-01

    Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. To report a new patient with keratoconus and Williams-Beuren syndrome. This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.

  5. Multidisciplinary surgical management of Cowden syndrome: report of a case

    OpenAIRE

    Patini, Romeo; Staderini, Edoardo; Gallenzi, Patrizia

    2016-01-01

    Cowden?s Syndrome (CS) is a rare congenital autosomal dominant disorder that affects around 1/200000 patients with an incomplete penetrance and variable expressivity, characterized by alterations in a tumor suppressor gene. A 14-year-old Caucasian male patient came to the attention of the authors complaining of palm nodules, gingival bleeding and painful pedunculated lesions on the lips and on the labial side of anterior sextants. After genetic investigation the final diagnosis of a Cowden Sy...

  6. Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report

    Directory of Open Access Journals (Sweden)

    De Salles Antonio AF

    2011-09-01

    Full Text Available Abstract Introduction Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the first to describe multiple cavernous malformations associated with Poland syndrome, further supporting the vascular etiology theory, but pointing to a genetic rather than a mechanistic factor disrupting blood flow in the corresponding vessels. Case presentation A 41-year-old Caucasian man with Poland syndrome on the right side of his body presented to our hospital with a secondary generalized seizure and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere. Conclusion The distribution of cavernous malformations in the left hemisphere and the right-sided Poland syndrome in our patient could not be explained by a mechanistic disruption of one of the subclavian arteries. A genetic alteration, as in familial cavernous malformations, would be a more appropriate etiologic diagnosis of Poland syndrome in our patient. Further genetic and pathological studies of the involved blood vessels in patients with Poland syndrome could lead to a better understanding of the disease.

  7. A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction

    Directory of Open Access Journals (Sweden)

    Debmalya Sanyal

    2013-01-01

    Full Text Available Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of spontaneous morning erections for six months. He was having nocturnal diarrhea and recurrent postural dizziness for three months. He was found to have hyperpigmentation at pressure points, postural hypotension and other features of autonomic dysfunction. Laboratory investigations and imaging studies revealed hypoadrenalism, achalasia, alacrima and peripheral neuropathy. Autonomic neuropathy-related features persisted even after correction of hypoadrenalism. Based on clinical features and investigation he was diagnosed as a case of 4A syndrome presenting with autonomic dysfunction. Allgrove or 4A syndrome should be considered as a rare differential diagnosis of someone presenting with features of autonomic neuropathy.

  8. Uncertainties in the Management of a Lynch Syndrome Patient: A Case Report

    OpenAIRE

    Campos, Sara; Amaro, Pedro; Cunha, Inês; Fraga, João; Cipriano, Maria Augusta; Tomé, Luís

    2017-01-01

    Introduction: Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is characterized by mutations in mismatch repair (MMR) genes leading to an increased cancer risk, namely colorectal cancer. Case: In the context of surveillance colonoscopy, a 40-mm flat lesion (0-IIa+b, Paris classification) was identified and submitted to piecemeal mucosal endoscopic resection in a 64-year-old LS patient with an MLH1 germline mutation (262delATC) and two previous segmental resections d...

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

    Science.gov (United States)

    Ballini, Andrea; Cantore, Stefania; Tullo, Domenica; Desiate, Apollonia

    2011-01-27

    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. 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. 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.

  10. Mondini deformity in a case of Turner syndrome. A radiological finding.

    Science.gov (United States)

    Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

    2012-01-01

    Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  11. Kartagener's syndrome presented with nasal obstruction: A case report

    Directory of Open Access Journals (Sweden)

    Suna Asilsoy

    2014-08-01

    Full Text Available The nasal polyposis is a chronic inflammatory process of the nasal mucosa. Although it is rare in children, there may be also association with cystic fibrosis and primary ciliary dyskinesia. About 50% of primary ciliary dyskinesia patients develop situs inversus and it is known as Kartagener's syndrome. The Kartagener's sydrome is a rare autosomal recessive disorder characterized by sinusitis, bronchiectasis, situs inversus. Clinically, patients present to the otolaryngologist with nasal obstruction. We as pediatricians, should consider nasal polyposis as a rare cause of nasal obstruction in children. In the presence of recurrent upper and lower respiratory tract infections accompanying nasal polyposis, Kartagener's syndrome must be kept in mind as a rare reason. [Cukurova Med J 2014; 39(4.000: 942-945

  12. Crossing the other side of the algorithm: a challenging case of adrenal Cushing's syndrome.

    Science.gov (United States)

    Antonio, Imelda Digna Soberano; Sandoval, Mark Anthony Santiago; Lantion-Ang, Frances Lina

    2011-12-01

    The diagnosis of endogenous Cushing's syndrome and its aetiology involved documenting the hypercotisolism and then determining whether that hypercortisolism is adrenocorticotropic hormone-dependent (ACTH-dependent) or not. Hence, following the algorithm, an undetected ACTH level points to an adrenal Cushing's while a detectable or elevated ACTH level points to either a pituitary or ectopic Cushing's syndrome. The authors present a case of florid adrenal Cushing's syndrome initially presenting with a normal ACTH level, which led to the investigation for an ACTH-secreting tumour. Adding to the confusion, a MRI done showed an intrasellar focus. Knowledge of how ACTH-dependent (versus ACTH-independent) Cushing's syndrome manifests clinically, supported by results of repeat laboratory tests, led to the true diagnosis. This case illustrates that a detectable ACTH does not rule out an adrenal Cushing's syndrome nor does a positive pituitary imaging confirm Cushing's disease.

  13. A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis

    NARCIS (Netherlands)

    G.H. van Ramshorst (Gabrielle); M.H. Lequin (Maarten); G.M.S. Mancini (Grazia); C. van de Ven (C.)

    2006-01-01

    textabstractThe authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high bifurcation of the abdominal aorta and

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

    Science.gov (United States)

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

    2014-07-01

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

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

    Directory of Open Access Journals (Sweden)

    Gayithri Harish Kulkarni

    2014-01-01

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

  16. Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case

    Directory of Open Access Journals (Sweden)

    Shalu Rai

    2013-01-01

    Full Text Available Keratocystic odontogenic tumor (KCOT is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences. Single odontogenic cysts are very well documented in the literature. Multiple (KCOT are principle features of nevoid basal cell carcinoma syndrome (naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome. We report an intriguing case of multiple KCOT in a non-syndromic patient simultaneously occurring in maxilla as well as in mandible with brief highlight on molecular data and the treatment modality.

  17. Cotard's syndrome: Two case reports and a brief review of literature.

    Science.gov (United States)

    Grover, Sandeep; Aneja, Jitender; Mahajan, Sonali; Varma, Sannidhya

    2014-11-01

    Cotard's syndrome is a rare neuropsychiatric condition in which the patient denies existence of one's own body to the extent of delusions of immortality. One of the consequences of Cotard's syndrome is self-starvation because of negation of existence of self. Although Cotard's syndrome has been reported to be associated with various organic conditions and other forms of psychopathology, it is less often reported to be seen in patients with catatonia. In this report we present two cases of Cotard's syndrome, both of whom had associated self-starvation and nutritional deficiencies and one of whom had associated catatonia.

  18. Cotard′s syndrome: Two case reports and a brief review of literature

    Directory of Open Access Journals (Sweden)

    Sandeep Grover

    2014-01-01

    Full Text Available Cotard′s syndrome is a rare neuropsychiatric condition in which the patient denies existence of one′s own body to the extent of delusions of immortality. One of the consequences of Cotard′s syndrome is self-starvation because of negation of existence of self. Although Cotard′s syndrome has been reported to be associated with various organic conditions and other forms of psychopathology, it is less often reported to be seen in patients with catatonia. In this report we present two cases of Cotard′s syndrome, both of whom had associated self-starvation and nutritional deficiencies and one of whom had associated catatonia.

  19. A case of clinical Reye syndrome presenting characteristic CT changes

    International Nuclear Information System (INIS)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo; Okuno, Takehiko.

    1984-01-01

    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease. (author)

  20. Tic Exacerbation in Adults with Tourette Syndrome: A Case Series

    OpenAIRE

    Sara M. Schaefer; Christopher A. Chow; Elan D. Louis; Daphne Robakis

    2017-01-01

    Background: Tourette syndrome (TS) has been described as peaking in adolescence with subsequent regression. We report patients who were diagnosed with TS during childhood who experienced a latent period (significant reduction in or absence of tics) followed by tic re-emergence in adulthood.Methods: We performed a retrospective chart review of outpatients over age 21 seen at the Yale neurology clinic between January 2012 and July 2016 who were diagnosed with childhood-onset tics, and...