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.
Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
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Francesca G. Iodice, Luca Di Chiara, Sara Boenzi, Chiara Aiello, Lidia Monti, Paola Cogo, Carlo Dionisi-Vici; Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension. Pediatrics July 2013; 132 (1): e248–e251. 10.1542/peds.2012-1945
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