Neonatal Hirschsprung disease with multicystic dysplastic kidneys presenting as multiple gastrointestinal perforations.

Intestinal perforation as a presentation of Hirschsprung disease is rare, occurring mostly in infants less than 3 months of age, usually those with long-segment disease. Hirschsprung disease may also be associated with other anomalies, that complicate the management and prognosis. Identifying Hirschsprung disease as a cause of perforation will thus help in deciding the site of colostomy and looking for associated anomalies.

Neonatal transfusion malaria requiring exchange transfusion.

Transfusion-acquired malaria in a neonate is uncommon and factors such as drug resistance and concomitant G6PD deficiency can cause treatment difficulties. We report a 26-day-old premature infant with chloroquine-resistant malaria who underwent exchange transfusion. The aim was to correct anaemia, decrease parasitaemia and remove G6PD-deficient cells to allow successful use of quinine.

Hypokalemic respiratory paralysis in Bartter's syndrome.

Life threatening hypokalemia can be a mode of presentation in renal salt wasting (Group-1) patients of Bartter's syndrome causing hypokalemic respiratory paralysis. Treatment on an emergent basis is required. In the long run, such patients may require higher doses of supplementary potassium and potassium sparing diuretics.

Subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies.

Fetal vascular disruptions can cause specific patterns of birth depending on the location, extent and timing of the disruptive event in the embryonic life. An example of this is subclavian artery supply disruption sequence occurring around 6 weeks of gestation which causes various combinations of Poland, Klippel-Feil and Mobius anomalies. A one-month-old child with features of all three anomalies along with other associated features is described here.

Acute lymphoblastic leukemia presenting as cyclic neutropenia.

Clinical and laboratory parameters usually allow an easy diagnosis of acute lymphoblastic leukemia in most cases. Difficult arises, however, when presentation is atypical. A young child with membranous tonsillo-pharyngitis secondary to an isolated neutropenia is reported.