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Cobalamin C defect presenting with isolated pulmonary hypertension

Francesca G Iodice1, Luca Di Chiara, Sara Boenzi

  • 1Unit of Pediatric Cardiac Anesthesia and Intensive Care, Department of Pediatric Cardiology and Cardiac Surgery, Children’s Hospital Bambino Gesù IRCCS, Rome, Italy. fgiovanna.iodice@opbg.net

Pediatrics
|June 12, 2013
PubMed

Insights

Cobalamin C defect, a common vitamin B12 metabolism disorder, typically presents in early childhood. This case highlights isolated pulmonary hypertension as an unusual initial symptom in an unscreened child.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Cobalamin C (cblC) defect is the most prevalent inherited disorder affecting vitamin B12 metabolism.
  • Clinical manifestations of cblC defect are diverse, ranging in severity and typically appearing in infancy or early childhood.
  • Commonly presents as a multisystem disease with neurological, ocular, hematological, renal, and gastrointestinal involvement.

Purpose of the Study:

  • To report a unique presentation of Cobalamin C defect.
  • To expand the differential diagnosis for pulmonary hypertension in pediatric cases.
  • To emphasize the importance of considering metabolic disorders even with atypical symptoms.

Main Methods:

  • Case report of a 2-year-old boy.
  • Detailed clinical evaluation focusing on presenting symptoms.
  • Diagnostic workup for inherited metabolic disorders, specifically vitamin B12 metabolism.

Main Results:

  • The patient presented with isolated pulmonary hypertension as the primary clinical feature.
  • The patient had not undergone newborn screening for metabolic disorders.
  • Subsequent diagnosis confirmed Cobalamin C defect as the underlying cause.

Conclusions:

  • This case demonstrates an atypical presentation of Cobalamin C defect, with pulmonary hypertension as the leading symptom.
  • The spectrum of inherited diseases causing pulmonary hypertension should include metabolic disorders like cblC defect.
  • Highlights the diagnostic challenge in patients not identified through newborn screening programs.

Keywords:
cobalamin C defectpulmonary hypertension

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