L-2-hydroxyglutaric aciduria: report of two Indian families.

L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare type of organic acidemia that has characteristic neurological manifestations including macrocephaly, developmental delay, epilepsy and cerebellar ataxia. Worldwide, few hundred cases of L-2-HGA are reported till date. The authors report the first three cases of L-2-HGA from two Indian families. Pertinent clinical aspects of this rare neurometabolic disorder namely, lack of acute exacerbations, and predisposition to brain tumors, are highlighted. In the present series, all cases had infantile onset of symptoms in the form of global developmental delay, seizures and cerebellar ataxia without extra-pyramidal signs or macrocephaly. One child presented as acute febrile encephalopathy which has not been described as a presenting feature.

Intravenous artesunate for transfusion-transmitted plasmodium vivax malaria in a preterm neonate.

Transfusion-transmitted malaria (TTM) in neonates is rare. TTM can occur in both endemic and nonendemic areas because the current tests used to screen the donor blood for malaria are unreliable when there is low parasitemia. Malaria must be considered as an important differential diagnosis for neonatal sepsis after exchange transfusion. Management strategy in TTM in the neonatal period is not standardized; exchange transfusion is often considered. We used intravenous artesunate in a case of severe malaria caused by Plasmodium vivax in a 30-week preterm neonate after packed red blood cell transfusion on day 19 of life. This is the first clinical report of parenteral artesunate successfully used in the neonatal period. We emphasize the need for further investigation of the safety and efficacy of intravenous artesunate in the treatment of severe neonatal malaria.

Unusual cause of abdominal pain in pediatric emergency medicine.

Atypical manifestations of acute hepatitis A virus (HAV) infection include ascites, pleural effusion, acute renal failure, aplastic anemia, and neurological manifestations. Although association of HAV and acute cholecystitis is known, presentation of hepatitis A infection with acute cholecystitis has not been reported in pediatric emergency medicine literature. Primary acute acalculous cholecystitis in children is rare and commonly attributed to systemic infections. We report a case of a child developing acute viral cholecystitis as a presenting feature of sporadic HAV infection and review HAV-associated cholecystitis in children. The article provides a brief illustration of evaluating acute abdominal pain in older children in the emergency department in a developing country.

Elective high-frequency oscillatory ventilation in preterm neonates: a preliminary investigation in a developing country.

BACKGROUND: Elective high-frequency oscillatory ventilation (HFOV) in preterm infants is known to be as effective as conventional ventilation in the prevention of bronchopulmonary dysplasia without the risk of increased mortality or brain damage. OBJECTIVE: To document the feasibility and safety of early use of HFOV in preterm neonates with respiratory distress syndrome (RDS) in a resource-limited setting. The primary outcome was survival or death, and the secondary outcome included complication rates observed among the two groups, HFOV and synchronised intermittent mandatory ventilation (SIMV). METHOD: Prospective, single-centre, non-crossover, and case-control design comparing outcome of HFOV with synchronised intermittent mandatory ventilation (SIMV) in preterm neonates with RDS. RESULTS: Preterm infants with RDS and a gestational age of 26-36 weeks were ventilated using either SIMV or HFOV soon after intubation. Twenty-two neonates in the HFOV group and 27 in the SIMV group were considered in the final analysis. Mortality was similar in both the groups for each gestational-age subgroup. There were no statistically significant differences in complication rates between the groups. CONCLUSION: Elective ventilation with HFOV to provide pulmonary support for preterm neonates is feasible in a resource-limited country such as India.