Prevalence of smooth muscle dysfunction among children with Duchenne muscular dystrophy.

Smooth muscle dysfunction in Duchenne muscular dystrophy (DMD) has been rarely studied. A cross-sectional study was conducted to estimate the prevalence of smooth muscle dysfunction (vascular, upper gastrointestinal, and bladder smooth muscle) in children with DMD using questionnaires (Pediatric Bleeding Questionnaire, Pediatric Gastroesophageal Symptom Questionnaire, and Dysfunctional Voiding Symptom Score). Investigations included bleeding time estimation, nuclear scintigraphy for gastroesophageal reflux, and uroflowmetry for urodynamic abnormalities. Ninety-nine subjects were included in the study. The prevalence of vascular, upper gastrointestinal, and bladder smooth muscle dysfunction was 27.2%. Mean bleeding time was prolonged by 117.5 seconds. The prevalence of gastroesophageal reflux was 21%. Voided volume/estimated bladder capacity over 15% and abnormal flow curves on uroflowmetry were seen in 18.2% and 9.7% of the subjects, respectively. Our study highlights the need for addressing issues related to smooth muscle dysfunction in the routine clinical care of patients with DMD.

Primary hyperparathyroidism may masquerade as rickets-osteomalacia in vitamin D replete children.

Primary hyperparathyroidism, typically a disease of the middle aged and the old, is less commonly seen in children. In children the disease has a bimodal age distribution with calcium sensing receptor mutation presenting in infancy as hypercalcemic crises and parathyroid adenoma or hyperplasia presenting later in childhood with bone disease. The childhood parathyroid adenomas are often familial with multiglandular disease and manifest with severe bone disease unlike adults. We report a series of four male patients with juvenile primary hyperparathyroidism, three of whom presented with bone disease masquerading as rickets-osteomalacia. One patient had asymptomatic hypercalcemia with short stature. Parathyroid adenoma was detected in all the four cases and all of them underwent resection of parathyroid adenomas confirmed on histopathology. Post-surgery all the cases had initial hypocalcaemia followed by normocalcemia. One case developed pancreatitis after surgery even after achieving normocalcemia. We conclude that parathyroid adenomas, although uncommon in children, are an important cause of skeletal disease that may initially be confused with hypovitaminosis D.

Urinary Ascites Secondary to Bladder Perforation in a Neonate with Posterior Urethral Valves.

Neonatal urinary ascites is a rare condition. It can be spontaneous or iatrogenic. Posterior urethral valve is the most common cause of spontaneous urinary ascites. It occurs most commonly from the rupture of calyceal fornices secondary to raised intrarenal pressure. Rarely, urinary bladder perforation is responsible for urinary ascites in Posterior urethral valve. Urinary ascites should be considered in a neonate with ascites with unexplained renal failure. In this article, we present the imaging feature and brief review of literature of a child with urinary ascites secondary to Posterior urethral valve.

Pelvic neurofibroma arising from prostate in a case of neurofibromatosis-1.

Pelvic neurofibroma is a rare condition and can be associated with neurofibromatosis-1 (NF-1). The diagnosis is primarily based on histopathology, though certain characteristic imaging features like the 'target sign' on T2W MRI are highly suggestive of the diagnosis. We describe a case of pelvic plexiform neurofibroma in a case of NF-1.

Prenatal diagnosis of mediastinal neurentric cyst with an intraspinal component.

Mediastinal neurenteric cysts are the least common types of the bronchopulmonary foregut malformations, and their antenatal diagnosis is rare. We report a case of mediastinal neurenteric cyst diagnosed on antenatal ultrasonography at 28 weeks' gestation. A small intraspinal component and vertebral segmentation anomalies were also noted. The diagnosis was confirmed on postnatal magnetic resonance imaging and at the time of operation.