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[Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12].
Rev Neurol. 2005 May 16-31; 40(10):605-8.RN

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.

Authors+Show Affiliations

Servicio de Neurología, Unitat Integrada Hospital Sant Joan de Deu-Clinic, E-08950 Esplugues de Llobregat, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

15926134

Citation

Gutiérrez-Aguilar, G, et al. "[Encephalopathy With Methylmalonic Aciduria and Homocystinuria Secondary to a Deficient Exogenous Supply of Vitamin B12]." Revista De Neurologia, vol. 40, no. 10, 2005, pp. 605-8.
Gutiérrez-Aguilar G, Abenia-Usón P, García-Cazorla A, et al. [Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12]. Rev Neurol. 2005;40(10):605-8.
Gutiérrez-Aguilar, G., Abenia-Usón, P., García-Cazorla, A., Vilaseca, M. A., & Campistol, J. (2005). [Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12]. Revista De Neurologia, 40(10), 605-8.
Gutiérrez-Aguilar G, et al. [Encephalopathy With Methylmalonic Aciduria and Homocystinuria Secondary to a Deficient Exogenous Supply of Vitamin B12]. Rev Neurol. 2005 May 16-31;40(10):605-8. PubMed PMID: 15926134.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12]. AU - Gutiérrez-Aguilar,G, AU - Abenia-Usón,P, AU - García-Cazorla,A, AU - Vilaseca,M A, AU - Campistol,J, PY - 2005/6/1/pubmed PY - 2005/9/16/medline PY - 2005/6/1/entrez SP - 605 EP - 8 JF - Revista de neurologia JO - Rev Neurol VL - 40 IS - 10 N2 - 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. SN - 0210-0010 UR - https://www.unboundmedicine.com/medline/citation/15926134/[Encephalopathy_with_methylmalonic_aciduria_and_homocystinuria_secondary_to_a_deficient_exogenous_supply_of_vitamin_B12]_ L2 - http://www.revneurol.com/LinkOut/formMedLine.asp?Refer=2004472&Revista=RevNeurol DB - PRIME DP - Unbound Medicine ER -