Andermann syndrome in a Turkish patient

Agenesis of the corpus callosum with peripheral neuropathy or Andermann syndrome is an autosomal recessive disorder rarely found outside certain regions of the province of Quebec, Canada. We report a 5-year-old Turkish patient with Andermann syndrome born to consanguineous parents. She presented with diffuse hypotonic weakness, predominantly in the distal extremities, and mild mental retardation. Electromyography showed axonal-demyelinating sensorimotor neuropathy. Sural nerve biopsy was compatible with demyelinating neuropathy. Cranial magnetic resonance imaging revealed total agenesis of the corpus callosum, dilatation of the interhemispheric fissure, and enlargement of the cisterna magna. The molecular genetic analysis using microsatellite DNA markers covering the agenesis of the corpus callosum with peripheral neuropathy locus on chromosome 15q13-q15 showed that the patient is homozygous for the whole region. Our findings confirm that Andermann syndrome is a genetically homogeneous disorder.     

Giant ethmoid osteoma with orbital extension presenting with epiphora

Paranasal sinus osteoma is a slow-growing, benign, encapsulated bony tumour that may be commonly asymptomatic, being detected incidentally in 1% of plain sinus radiographs or in 3% sinus computerized tomographic scans. In a patient presenting with epiphora and nasal obstruction, computed tomography disclosed a giant osteoma of the ethmoid. In this article, one patient having giant ethmoidal osteoma with orbital extension is described, and epidemiology, diagnosis, treatment, and pathological findings in paranasal sinus osteoma are reviewed.     

Acute necrotizing tubulointerstitial nephritis due to systemic adenoviral infection

To date, all the reported cases of acute necrotizing tubulointerstitial nephritis (TIN) secondary to systemic adenovirus infection have occurred in individuals with primary or secondary immunodeficiency, and have resulted in renal failure and death. We present the case of a 12-year-old, immunologically competent girl who developed acute necrotizing TIN with acute renal failure (ARF), hepatitis and meningoencephalitis secondary to a systemic adenoviral infection who completely recovered with supportive care. Received: 11 February 2000 / Revised: 6 July 2000 / Accepted: 18 August 2000     

Translation,cultural adaptation,cross-validation of the Turkish diabetes quality-of-life (DQOL) measure

Objective The aim of this study was to test the validity and reliability of the Turkish version of the diabetes quality of life (DQOL) questionnaire for use with patients with diabetes. Methods Turkish version of the generic quality of life (QoL) scale 15D and DQOL, socio-demographics and clinical parameter characteristics were administered to 150 patients with type 2 diabetes. Study participants were randomly sampled from the Endocrinology and Diabetes Outpatient Department of Dr. Lutfi Kirdar Kartal Education and Research Hospital in Istanbul, Turkey. Results The Cronbach alpha coefficient of the overall DQOL scale was 0.89; the Cronbach alpha coefficient ranged from 0.80 to 0.94 for subscales. Distress, discomfort and its symptoms, depression, mobility, usual activities, and vitality on the 15 D scale had statistically significant correlations with social/vocational worry and diabetes-related worry on the DQOL scale indicating good convergent validity. Factor analysis identified four subscales: satisfaction”, impact”, “diabetes-related worry”, and “social/vocational worry”. Conclusion Statistical analyses showed that the Turkish version of the DQOL is a valid and reliable instrument to measure disease related QoL in patients with diabetes. It is a simple and quick screening tool with about 15 ± 5.8 min administration time for measuring QoL in this population.     

Conjoined twins: historical perspective and report of a case.

In this article we review the historically important cases of conjoined twins (Biddenden Maids, Siamese twins, Blazek sisters) and contemporary knowledge regarding incidence, etiopathogenesis, antenatal diagnosis, antenatal management, and outcome of conjoined twins. We also present a case of male cephalothoracoomphalopagus, which is extremely rare.     

American Paraplegia Society 48th Annual Conference • September 2002 Poster Presentations #P1-P30 Sci Research • Pharmacology • Technology • Education

Abstract

Background/Objective: Salmonella spondylodiskitis is an uncommon type of vertebral infection. The aim of this study was to present a case of progressive paraplegia caused by Salmonella spondylodiskitis and epidural abscess after endoscopic cholecystectomy.

Methods: The patient underwent posterior instrumentation and posterior fusion between T6 and T12, hemilaminotomies at levels T8-T9-T10, and drainage of the abscess. Through a left thoracotomy, anterior T8-T10 corpectomy, debridement, anterior stabilization, and fusion were conducted.

Results: Fifteen months later, final follow-up showed no complications secondary to the vertebral and hip surgeries, and neurological status improved to Frankel grade E. Laboratory investigations showed no evidence of Salmonella infection.

Conclusion: Immunocompromised patients who undergo endoscopic intervention are vulnerable to Salmonella infections. One must consider Salmonella infection in those who develop acute progressive spondylodiskitis.     

Large Ascending Aortic Aneurysm and Severe Aortic Regurgitation in a 7-year-Old Child with Marfan Syndrome and a Review of the Literature: Marfan Syndrome in Childhood

A 7-year-old girl was admitted because of dyspnea on exertion and palpitations. Her symptoms had gradually worsened for the last 6 months. She had physical features of the Marfan syndrome. Transthoracic echocardiography showed an ascending aortic aneurysm, severe aortic regurgitation, and mildly dilated left ventricle. Because of marked aortic aneurysm and severe aortic regurgitation, the patient was treated with a beta-blocker and an angiotensin converting enzyme inhibitor. Surgery was refused by her parents. We describe here a child with Marfan syndrome in whom significant dilatation of the ascending aorta and severe aortic regurgitation is encountered and major cardiovascular complications of Marfan syndrome were reviewed.     

Nephrotic syndrome associated with agnogenic myeloid metaplasia

Extramedullary hematopoiesis being an important feature of agnogenic myeloid metaplasia (AMM), a chronic myeloproliferative disease of clonal origin, may affect the kidneys, but this condition is usually asymptomatic. Until now, there is only one reported case of nephrotic syndrome associated with AMM. We present a patient with AMM who had nephrotic syndrome and whose renal biopsy revealed membranous glomerulonephritis together with renal extramedullary hematopoiesis.