Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension

We report a case of a young boy with cblC defect, who did not undergo newborn screening, presenting at the age of 2 years with isolated pulmonary hypertension as the leading symptom. This novel way of presentation of cblC defect enlarges the spectrum of inherited diseases that must be considered in the differential diagnosis of pulmonary hypertension.

Source: PEDIATRICS - July 1, 2013 Category: Pediatrics Authors: Iodice, F. G., Di Chiara, L., Boenzi, S., Aiello, C., Monti, L., Cogo, P., Dionisi-Vici, C. Tags: Case Report Source Type: research