Progressive systemic sclerosis in a child.

Systemic sclerosis is a clinically heterogeneous systemic disease affecting the connective tissues of skin, walls of blood vessels and internal organs like lung, heart and kidneys. Systemic sclerosis is very unusual in pediatric population. Children represent fewer than 10% of all cases. We report a case of 11 years old girl of progressive systemic sclerosis presenting with features of cutaneous sclerosis, microstomia, mask-like facies, sclerodactyly, esophageal dysmotility, Raynaud's phenomenon, arthralgia and pulmonary fibrosis.

A Case of Congenital Erythropoietic Porphyria without Hemolysis.

Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and marked cutaneous photosensitivity. Here, we describe a case of CEP with infancy onset blistering, photosensitivity, red colored urine and teeth along with scarring but without any feature of hemolysis.

Unilateral basal-ganglia involvement likely due to valproate-induced hyperammonemic encephalopathy.

A male child suffering from generalized tonic clonic epilepsy, on treatment with valproate, developed fulminant hepatic failure, hyperammonemia and encephalopathy due to drug toxicity. The most extraordinary feature was his MRI (FLAIR image) of brain which showed unilateral hyperintensities in right putamen and caudate nucleus. The patient recovered on withdrawal of valproate with mild residual left sided athetotic movements during remission. Repeat investigation confirmed an improved MRI imaging and normalised blood ammonia levels. The case report is unique because of unilateral involvement of basal ganglia due to valproate-induced encephalopathy.

Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency.

A 3-year-old boy receiving valproate for 1.5 months presented with sudden-onset unprovoked seizures and unconsciousness. Hypoketotic hypoglycemia, hyperammonemia, and deranged liver function were detected. Elevated medium-chain urinary acylglycines and plasma acylcarnitine were detected. His serum valproate level was elevated. Valproate toxicity had been precipitated in presence of medium-chain acyl-CoA dehydrogenase deficiency. Cranial magnetic resonance imaging brain indicated unilateral basal ganglia ischemia instead of the bilateral changes expected in metabolic disease.

Adolescents speak: why do we smoke?

OBJECTIVES: To assess the role of different factors that are associated with initiation and continuation of adolescent smoking. MATERIALS AND METHODS: A total of 2535 students (1465 males and 1070 females) between the age groups of 14 and 19 years were selected from four schools and two colleges of the city by two-stage cluster sampling design for this cross-sectional study. RESULTS: The prevalence of cigarette smoking was 21.58%. Smoking was found to be considerably influenced with having seen best friend, father, sibling and favorite movie star smoke and also with receiving pocket money. CONCLUSION: Experimentation of substance use, motivated by family members, peer groups and the surrounding environment is common among adolescents and starts early in life. Therefore, it is necessary to come up with health promotion programs directed toward students which encourage attitude shaping among them toward self-confidence and healthy life style.

Cryptogenic cirrhosis: metabolic liver disease due to insulin resistance.

OBJECTIVE: Etiopathogenesis of cryptogenic cirrhosis (CC) is not yet well established. Up to 20% of non-alcoholic fatty liver disease (NAFLD) may progress to cirrhosis, mostly termed as cryptogenic. Insulin resistance and altered metabolic parameters form a major pathogenic link between NAFLD and CC. CC may thus be actually a metabolic liver disease. MATERIALS AND METHODS: Thirty-four patients of CC and 32 patients having cirrhosis due to chronic hepatitis B (Hep B) were assessed in a cross-sectional study in a tertiary hospital for insulin resistance, % ß-cell activity, obesity indices, plasma glucose, lipid profiles, and many other parameters. RESULTS: CC patients had higher homeostasis model assessment (HOMA)-IR compared to Hep B group (P = 0.000016). A positive correlation between IR values and Child-Pugh score among CC patients was found ("r" = 0.87; P < 0.00001). Out of 34 CC patients, 15 (44.1%) had obesity contrary to 6 (18.8%) in the control group (P = 0.0022). Differences were observed in subcutaneous fat (P = 0.0022), intra-abdominal fat (P = 0.0055), waist circumference (P = 0.014), and percentage body fat (P = 0.047) between the two groups. Significant differences were observed in the levels of triglyceride, total cholesterol, and very low density lipoprotein (VLDL). CONCLUSION: Most of the CC patients showed significantly higher prevalence of HOMA-IR, obesity indices, and various parameters of "lipotoxicity" and metabolic syndrome, suggesting that CC may be the long-term consequence of a type of "metabolic liver disease." Further studies are required to evaluate the role of therapeutic interventions to enhance insulin sensitivity in such patients.