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Research ArticlePediatrics

Neuroimaging Features of Biotinidase Deficiency

A. Biswas, C. McNamara, V.K. Gowda, F. Gala, S. Sudhakar, J. Sidpra, M.S. Vari, P. Striano, S. Blaser, M. Severino, S. Batzios and K. Mankad
American Journal of Neuroradiology March 2023, 44 (3) 328-333; DOI: https://doi.org/10.3174/ajnr.A7781
A. Biswas
aFrom the Department of Diagnostic Imaging (A.B., S. Blaser), The Hospital for Sick Children, Toronto, Ontario, Canada
bDepartments of Neuroradiology (A.B., C.M., S.S., J.S., K.M.)
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C. McNamara
bDepartments of Neuroradiology (A.B., C.M., S.S., J.S., K.M.)
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V.K. Gowda
eDepartment of Pediatric Neurology (V.K.G.), Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
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F. Gala
fDepartment of Radiodiagnosis (F.G.), Bai Jerbai Wadia Hospital, Mumbai, Maharashtra, India
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S. Sudhakar
bDepartments of Neuroradiology (A.B., C.M., S.S., J.S., K.M.)
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J. Sidpra
bDepartments of Neuroradiology (A.B., C.M., S.S., J.S., K.M.)
dDevelopmental Biology and Cancer Section (J.S.), University College London Great Ormond Street Institute of Child Health, London, UK
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M.S. Vari
gPediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.)
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P. Striano
gPediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.)
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S. Blaser
aFrom the Department of Diagnostic Imaging (A.B., S. Blaser), The Hospital for Sick Children, Toronto, Ontario, Canada
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M. Severino
hNeuroradiology Unit (M.S.), Istituto di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy
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S. Batzios
cPaediatric Metabolic Medicine (S. Batzios), Great Ormond Street Hospital for Children, National Health Service Foundation Trust, London, UK
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K. Mankad
bDepartments of Neuroradiology (A.B., C.M., S.S., J.S., K.M.)
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Abstract

SUMMARY: Biotinidase deficiency is an autosomal recessive condition caused by pathogenic variants in the BTD gene. Resultant deficiency of free biotin leads to impaired activity of the enzyme carboxylase and related neurologic, dermatologic, and ocular symptoms. Many of these are reversible on treatment, but early recognition and commencement of biotin supplementation are critical. This practice is especially important in countries where routine neonatal screening for biotinidase deficiency is not performed. In this report comprising 14 patients from multiple centers, we demonstrate the MR imaging patterns of this disorder at various age groups. Knowledge of these patterns in the appropriate clinical context will help guide early diagnosis of this treatable metabolic disorder.

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American Journal of Neuroradiology: 44 (3)
American Journal of Neuroradiology
Vol. 44, Issue 3
1 Mar 2023
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Neuroimaging Features of Biotinidase Deficiency
A. Biswas, C. McNamara, V.K. Gowda, F. Gala, S. Sudhakar, J. Sidpra, M.S. Vari, P. Striano, S. Blaser, M. Severino, S. Batzios, K. Mankad
American Journal of Neuroradiology Mar 2023, 44 (3) 328-333; DOI: 10.3174/ajnr.A7781

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Neuroimaging Features of Biotinidase Deficiency
A. Biswas, C. McNamara, V.K. Gowda, F. Gala, S. Sudhakar, J. Sidpra, M.S. Vari, P. Striano, S. Blaser, M. Severino, S. Batzios, K. Mankad
American Journal of Neuroradiology Mar 2023, 44 (3) 328-333; DOI: 10.3174/ajnr.A7781
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