Caudal regression syndrome: a rare case report.

Caudal regression syndrome is a rare disorder characterised by abnormal development of structures in the caudal region of the embryo like lower lumbar and sacral vertebrae, urogenital and lower gastrointestinal system. It is secondary to abnormal development of mesoderm. Multiple hypotheses like genetic, metabolic and vascular hypoperfusion have been proposed as etiologies. It can be picked up in early second trimester by ultrasound. It has a higher incidence in diabetic pregnancies.

Pediatric presentations of leptospirosis.

OBJECTIVE: Leptospirosis in children is an often under diagnosed condition due to the non specificity of the presentations except for the classical Weil's disease. METHODS: Children presenting with symptoms and signs suggestive of Leptospirosis were included in the study. Diagnostic criteria were fever, myalgia, conjunctival suffusion, Jaundice, headache, altered sensorium, seizures, bleeding manifestation and oliguria. Their clinical profile, lab parameters (general and specific), response to treatment and outcome were analysed. RESULT: One hundred and thirty nine cases were diagnosed during a 4-year period. The commonest symptoms were fever 133 (96%), headache and myalgia 34 (24%). Jaundice was present in only 25 (18%) of cases with renal failure in 2 cases. The frequently encountered clinical signs were hepatomegaly in 100 (72%), myalgia in 34 (24%) with icterus in 25 (18%), 12 (9%) of children presented with shock and 10 (7%) had meningitis. CPK estimated was a useful index of myositis. The diagnosis was confirmed by Dark field microscopy and paired or single high serological tests (MAT, ELISA IgM). Overlapping infections such as culture positive Salmonella typhi with leptospirosis (Serology positive) or Dengue Hemorrhagic fever with Leptospirosis presented with complications such as a myocarditis, shock and ARDS. CONCLUSION: Presentation of non-icteric forms of Leptospirosis are often non-specific and may be missed unless there is a high index of suspicion. This study emphasizes the myositis and meningitis forms of leptospirosis. Delayed diagnosis leads to increased mortality and morbidity.

Importance of screening the peripheral smear.

A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent beta hypo protein band. Jejunal mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.