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.
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July 2013
Case Report|
July 01 2013
Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension
Francesca G. Iodice, MD;
aUnit of Pediatric Cardiac Anesthesia and Intensive Care, Department of Pediatric Cardiology and Cardiac Surgery,
Address correspondence to Francesca G. Iodice, MD, Children’s Hospital Bambino Gesù, Piazza San Onofrio 4, 00195, Rome, Italy. E-mail: fgiovanna.iodice@opbg.net or francesca_iodice@yahoo.it
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Luca Di Chiara, MD;
Luca Di Chiara, MD
aUnit of Pediatric Cardiac Anesthesia and Intensive Care, Department of Pediatric Cardiology and Cardiac Surgery,
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Sara Boenzi, MSc;
Sara Boenzi, MSc
bDivision of Metabolic Diseases, Department of Pediatric Medicine,
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Chiara Aiello, MD;
Chiara Aiello, MD
cUnit of Neuromuscular Diseases, Department of Neurology, and
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Lidia Monti, MD;
Lidia Monti, MD
dDepartment of Radiology, Children’s Hospital Bambino Gesù IRCCS, Rome, Italy
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Paola Cogo, MD;
Paola Cogo, MD
aUnit of Pediatric Cardiac Anesthesia and Intensive Care, Department of Pediatric Cardiology and Cardiac Surgery,
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Carlo Dionisi-Vici, MD
Carlo Dionisi-Vici, MD
bDivision of Metabolic Diseases, Department of Pediatric Medicine,
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Address correspondence to Francesca G. Iodice, MD, Children’s Hospital Bambino Gesù, Piazza San Onofrio 4, 00195, Rome, Italy. E-mail: fgiovanna.iodice@opbg.net or francesca_iodice@yahoo.it
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
Pediatrics (2013) 132 (1): e248–e251.
Article history
Accepted:
March 21 2013
Citation
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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