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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
Summary
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.
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