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Neuropediatrics 1993; 24(2): 103-106
DOI: 10.1055/s-2008-1071523
Short communication

© Georg Thieme Verlag KG Stuttgart · New York

Deteriorating Neurological and Neuroradiological Course in Treated Biotinidase Deficiency

T.  Ginat-Israeli1 , H.  Hurvitz1 , A.  Klar1 , G.  Blinder3 , D.  Branski1 , N.  Amir2
  • 1Department of Pediatrics, Bikur Cholim General Hospital, affiliated with the Hebrew University - Hadassah Medical School, Jerusalem, Israel
  • 2Pediatric Neurology Unit, Bikur Cholim General Hospital, affiliated with the Hebrew University - Hadassah Medical School, Jerusalem, Israel
  • 3MAR Imaging Center, Jerusalem, Israel
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

We report a 7-month-old female baby with recent onset of neurological manifestations and mucocutaneous candidiasis. Immunological findings were compatible with severe combined immune deficiency (SCID). Infectious etiology of the central nervous system (CNS) involvement was ruled out. Biotinidase deficiency was suspected because of the concomitance of neurological and immunological deficits and was confirmed by enzymatic assay.

Comprehensive treatment, including bone marrow transplantation (BMT) and biotin, resulted in immunological recovery, but no improvement of neurological condition.

Serial brain CT scans over a period of 2 1/2 years demonstrated profound progression of brain atrophy involving gray matter.

Abbreviations

SCID = Severe combined immune deficiency
PC = Pyruvate carboxylase
ADA = Adenosine deaminase
PNP = Purine nucleoside phosphorylase
BMT = Bone marrow transplantation

Key words

Biotinidase deficiency - Biotin - Diffuse brain atrophy - Severe combined immunodeficiency - Bone marrow transplantation