Changing Scenario in Aetiological Profile of Short Stature in India-Growing Importance of Celiac Disease: A Study from Tertiary Care Centre

Objective  

To compare the etiological profile of short stature at a tertiary care hospital of North India over a decade from 1995–2007.     

Hepatic Osteodystrophy Is Common in Patients with Noncholestatic Liver Disease

Background  

Patients with cirrhosis are more prone to develop metabolic bone disease. Scanty literature data are available on osteodystrophy in patients from India with noncholestatic liver diseases.     

Report of two brothers with short stature,microcephaly, mental retardation,and retinoschisis—A new mental retardation syndrome?

Involvement of genes on the X-chromosome as a cause of mental retardation has been recognized for a long time. X-linked phenotypes of mental retardation have been divided into non-syndromic and syndromic based on associated manifestations. At present, more than 140 syndromic X-linked mental retardation (XLMR) conditions have been reported and a causative gene mutation has been identified in almost half of these. Here, we report on two brothers with short stature, microcephaly, severe mental retardation, and retinoschisis. Results of karyotype analysis, fragile-X and neuroimaging studies were normal. Fundus examination showed bilateral retinoschisis at variable stages in both sibs. X-linked retinoschisis is a retinal dystrophy caused by mutations in the RS1 gene at Xp22.1, which lead to splitting of the neural retina and reduced visual acuity in affected men. However, as yet there have been no reports of mental retardation in X-linked retinoschisis although genetic loci for XLMR and short stature have been mapped to Xp22.1. Sequencing and microarray analysis failed to find any alteration of RS1 gene or copy number alteration in the region. In addition, genotype analysis of Xp22.1 provided evidence against linkage to this region. The associated findings of retinoschisis and mental retardation in two brothers suggest a new mental retardation syndrome likely to be an X linked trait.     

Noncompaction Cardiomyopathy in Children With Congenital Heart Disease: Evaluation Using Cardiovascular Magnetic Resonance Imaging

Noncompaction of the left ventricle, a genetic cardiomyopathy with a reported incidence of 0.05% to 0.24%, can lead to sudden cardiac death, particularly among children, if left undetected. Because the diagnosis of isolated noncompaction cardiomyopathy (NCM) can be overlooked, its association with other congenital heart diseases (CHDs) makes the diagnosis of NCM even more difficult. This study aimed to assess the impact of NCM on the cardiovascular physiology of children with coexisting CHDs evaluated by cardiovascular magnetic resonance imaging. A case-control study was performed with 12 children (6 patients with combined NCM and CHD and 6 control subjects with isolated CHD). The mean left ventricular end-diastolic and end-systolic volume indices were significantly higher in the CHD patients presenting with NCM than in the CHD patients with no NCM (P = 0.028). However, no differences were observed for right ventricular end-diastolic and end-systolic volume indices, biventricular ejection fractions, stroke volumes and indices, left ventricular wall thickness, left ventricular fractional shortening, cardiac output, or cardiac index. This study suggests that NCM in children with CHDs increases left ventricular volumes, and larger studies are required to demonstrate other changes (e.g., ejection fraction, stroke volume) that were close to being significant.     

Peripubertal hypoglycemia--an unusual cause

A 9-year-old boy presented with recurrent episodes of hypoglycemic seizures. He had classical facies and body asymmetry suggestive of Russell-Silver syndrome. On evaluation, he was found to have ketotic hypoglycemia with growth hormone deficiency.     

Tuberculous abscess of the thyroid gland: a report of two cases

Tuberculosis of the thyroid gland is very rare, with an acute abscess formation being the least common form of presentation. We report the sono-graphic features of two cases of tuberculous thyroid abscess that were confirmed via ultrasound-guided fine needle aspiration biopsy.