Cobalamin c defect presenting with isolated pulmonary hypertension

Research output: Contribution to journalArticle

19 Citations (Scopus)

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. Pediatrics 2013;132:e248-e251.

Original languageEnglish
JournalPediatrics
Volume132
Issue number1
DOIs
Publication statusPublished - Jul 1 2013

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Vitamin B 12
Pulmonary Hypertension
Microcephaly
Muscle Hypotonia
Hydrocephalus
Neurologic Manifestations
Nervous System
Seizures
Differential Diagnosis
Defects
Hypertension
Newborn Infant
Pediatrics
Kidney
Brain

Keywords

  • Cobalamin C defect
  • Pulmonary hypertension

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Arts and Humanities (miscellaneous)

Cite this

Cobalamin c defect presenting with isolated pulmonary hypertension. / Iodice, Francesca G.; Chiara, Luca Di; Boenzi, Sara; Aiello, Chiara; Monti, Lidia; Cogo, Paola; Dionisi-Vici, Carlo.

In: Pediatrics, Vol. 132, No. 1, 01.07.2013.

Research output: Contribution to journalArticle

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