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Pediatrics. 2013 Jul;132(1):e248-51. doi: 10.1542/peds.2012-1945. Epub 2013 Jun 10.

Cobalamin C defect presenting with isolated pulmonary hypertension.

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Unit of Pediatric Cardiac Anesthesia and Intensive Care, Department of Pediatric Cardiology and Cardiac Surgery, Children’s Hospital Bambino Gesù IRCCS, Rome, Italy.


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; pulmonary hypertension

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