Abstract
BackgroundCobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare.Case presentationWe describe the case of a 2-years old child, previously in good health, admitted to the hospital with severe respiratory symptoms, rapid worsening of clinical conditions, O2 desaturation and palmo-plantar edema. The patient showed PAH and laboratory findings compatible with aHUS. cblC defect, an inborn error of metabolism, was identified as the cause of all the symptoms described (cardiac, respiratory and renal involvement). Results of neonatal screening for inborn errors of metabolism had been negative.Administration of IM OHCbl (intramuscular hydroxocobalamin), oral betaine and symptomatic treatment with diuretics and anti-hypertensive systemic and pulmonary drugs induced dramatic improvement of both cardiac and systemic symptoms.ConclusionsIn this case of cblC defect the metabolic treatment completely reverted symptoms of aHUS and PAH. The course was favorable, and the prognosis is what we foresee for the future.
Highlights
Cobalamin C defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms
Onset is typically early in life, most prominent presenting with severe neurological impairment like hypotonia, seizures, failure to thrive, irritability and eventually coma, microcephaly or ocular, hematological, renal and gastrointestinal signs
CW Doppler evidences high-velocity tricuspid insufficiency: 5.05 m/sec corresponding to pulmonary pressure of 107 mmHg showing normal growth, normal mental and neurological development, and no behavioral problems were detected
Summary
In this case of cblC defect the metabolic treatment completely reverted symptoms of aHUS and PAH.
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