Surgical Repair of Atrial Septal Defect in a Patient with 3-Methylcrotonyl-CoA Carboxylase Deficiency.

3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is a rare autosomal recessive disease of leucine catabolism. 3-MCC deficiency may lead to metabolic decompensation under stress; however, outcomes of elective surgery requiring cardiopulmonary bypass (CPB) are unknown. We report a 4-year-old girl with asymptomatic 3-MCC deficiency and atrial septal defect (ASD) who's undergone surgical ASD repair under CPB. She was otherwise normal developmentally and medically. Although patients with 3-MCC may face metabolic crises, the ASD repair under CPB was uneventful.

Recurrent Acute Methemoglobinemia in an Infant With Persistent Gastroenteritis: A Case Report.

Acute toxic methemoglobinemia is a rare and fatal condition with increased levels of oxidized hemoglobin. The clinical presentation of methemoglobinemia varies primarily based on total methemoglobin levels in the blood. Patients sometimes have significant cardiopulmonary compromise, but the majority are asymptomatic, with only cyanosis as the most prevalent sign. We report the case of a 41-day-old male who developed methemoglobinemia and persistent gastroenteritis after consumption of well water. In this case, we believe that the recurrence of acute methemoglobinemia episodes resulted from multifactorial reasons such as age at presentation, infection with nitrate-producing organisms, and consumption of nitrite-containing well water. The rationale for prophylactic therapy was implemented, aiming to prevent further episodes. This case report demonstrates the potential of prophylactic therapy as part of the management of infants with recurrent acute methemoglobinemia episodes.