Neuropediatrics 2004; 35(4): 211-216
DOI: 10.1055/s-2004-821080
Original Article

Georg Thieme Verlag KG Stuttgart · New York

Biotinidase Deficiency: a Treatable Leukoencephalopathy

S. Grünewald1 , 2 , M. P. Champion3 , J. V. Leonard2 , J. Schaper4 , A. A. M. Morris2 , 5
  • 1Children's Hospital, University Hospital Essen, Essen, Germany
  • 2Metabolic Unit, Great Ormond Street Hospital for Children, London, UK
  • 3Department of Paediatric Metabolic Medicine, Guy's Hospital, London, UK
  • 4Radiology Department, Paediatric Radiology, University Hospital, Düsseldorf, Germany
  • 5Willink Unit, Royal Manchester Children's Hospital, Manchester, UK
Further Information

Publication History

Received: October 6, 2003

Accepted after Revision: May 13, 2004

Publication Date:
14 July 2004 (online)

Abstract

The clinical history and the neuroradiological findings have been reviewed for 5 patients with biotinidase deficiency. Patients were diagnosed in the UK, where neonatal screening for this disorder is not done. The age at presentation ranged from 4 weeks to 5 months and the median interval between presentation and diagnosis was 5.5 months. The main abnormalities on cerebral imaging were leukoencephalopathy and widening of the ventricles and extra-cerebral CSF spaces. White matter abnormalities included delayed myelination but, in some patients, the increased signal was too great to be explained just by failure of myelination. Subtle subcortical changes were the only abnormality in one patient. Follow-up studies after treatment with biotin showed improved myelination; in one case, this was accompanied by normalisation of the CSF spaces but another patient showed progressive atrophy and cystic degeneration. Most of these patients have neurological sequelae. Biotinidase deficiency should be excluded in all patients with unexplained neurological problems. Neonatal screening provides the best chance of a good outcome.

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M.D. Stephanie Grünewald

Children's Hospital
University Hospital Essen

Hufelandstrasse 55

45122 Essen

Germany

Email: stephanie.gruenewald@uni-essen.de