Cobalamin C defect presenting with isolated pulmonary hypertension.

Abstract:

:Cobalamin C (cblC) defect is the most common inborn error of vitamin B12 metabolism. Clinical features vary as does the severity of the disease. In most cases, the clinical symptoms of cblC defect tend to appear during infancy or early childhood as a multisystem disease with severe neurologic, ocular, hematologic, renal, and gastrointestinal signs. The neurologic findings are common and include hypotonia, developmental delay, microcephaly, seizures hydrocephalus, and brain MRI abnormalities. 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.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Iodice FG,Di Chiara L,Boenzi S,Aiello C,Monti L,Cogo P,Dionisi-Vici C

doi

10.1542/peds.2012-1945

subject

Has Abstract

pub_date

2013-07-01 00:00:00

pages

e248-51

issue

1

eissn

0031-4005

issn

1098-4275

pii

peds.2012-1945

journal_volume

132

pub_type

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