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Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B<sub>12</sub>

G. Gutiérrez-Aguilar, P. Abenia-Usón, A. García-Cazorla, M.A. Vilaseca, J. Campistol [REV NEUROL 2005;40:605-608] PMID: 15926134 DOI: https://doi.org/10.33588/rn.4010.2004472

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Volumen 40 | Number 10 | Nº of views of the article 6.823 | Nº of PDF downloads 744 | Article publication date 16/05/2005

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ABSTRACT

INTRODUCTION A deficient supply of vitamin B₁₂ can appear early during the first months of life, with haematological and neurological symptoms in the form of progressive encephalopathy. CASE REPORTS. We describe two patients with megaloblastic anaemia and halted somatic and cranial perimeter development, accompanied by neurological involvement. Both of them had an increased rate of excretion of methylmalonic acid, as well as homocysteine, in urine with extremely low serum levels of vitamin B₁₂, as compared to normal values. Both patients were breastfed only. The study of the mothers revealed asymptomatic pernicious anaemia. Treatment with hydroxycobalamine led to clinical recovery and psychomotor development progressively returned to normal.

CONCLUSIONS Vitamin B₁₂ deficiency due to a shortage of supply from the mother must be taken into account in the differential diagnosis of possibly reversible severe encephalopathies. KeywordsMegaloblastic anaemia Severe encephalopathy Vitamin B₁₂

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Nota Clínica

Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B<sub>12</sub>