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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2019; 29(01): 99-103
DOI: 10.4103/ijri.IJRI_159_18
Case Report

Congenital biotinidase deficiency – MRI findings in two cases

Rahul S Ranjan
Department of Radiodiagnosis, Rama Medical College, Mandhana, Kanpur, Uttar Pradesh, India
,
Sunil Taneja
Ex. Consultant at G. S. V. M. Medical College, Kanpur, Uttar Pradesh, India
,
Anil Singh
Department of Radiodiagnosis, Rama Medical College, Mandhana, Kanpur, Uttar Pradesh, India
,
Vikas Gupta
Consultant Radiologist, Vikas Diagnostics, Kanpur, Uttar Pradesh, India
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Subject Editor: Financial support and sponsorship Nil.
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Abstract

Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of congenital biotinidase deficiency in infantile age group with review of literature.

Keywords

Biotinidase deficiency - developmental delay - neurometabolic disorder - seizures


Publication History

Article published online:
23 July 2021

© 2019. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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  • References

  • 1 Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly W. et al. editors The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001: 3935-62
    Search in Google Scholar
  • 2 Rathi N, Rathi M. Biotinidase deficiency with hypertonia as unusual feature. Indian Pediatr 2009; 46: 65-7
    PubMedSearch in Google Scholar
  • 3 Wolf B. Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 1991; 14: 923-7
    CrossrefPubMedSearch in Google Scholar
  • 4 Dahiphale R, Jain S, Agrawal M. Biotinidase deficiency. Indian Pediatr 2008; 45: 777-9
    PubMedSearch in Google Scholar
  • 5 Heard GS, SecorMcVoy JR, Wolf B. A Screening method for biotinidase deficiency in newborns. Clin Chem 1984; 30: 125-7
    CrossrefPubMedSearch in Google Scholar
  • 6 Desai S, Ganesan K, Hegde A. Biotinidase deficiency: A reversible metabolic encephalopathy – Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol 2008; 38: 848-56
    CrossrefPubMedSearch in Google Scholar
  • 7 Barkovich AJ, Raybaud C. Pediatric Neuroimaging. 5th ed. Philadephia, PA: Lippincott Williams & Wilkins; 2012: 108-9
    Search in Google Scholar
  • 8 Karimzadeh P, Ahmadabadi F, Jafari N, Jabbehdari S, Alaee MR, Ghofrani M. et al. Biotinidase deficiency: A reversible neurometabolic disorder (An Iranian Pediatric Case Series). Iran J Child Neurol 2013; 7: 47-52
    PubMedSearch in Google Scholar
  • 9 Haagerup A, Andersen JB, Blichfeldt S, Christensen MF. Biotinidase deficiency: Two cases of very early presentation. Dev Med Child Neurol 1997; 39: 832-5
    Search in Google Scholar
  • 10 Bhat MD, Bindu PS, Christopher R, Prasad C, Verma A. Novel imaging findings in two cases of biotinidase deficiency – A treatable metabolic disorder. Metab Brain Dis 2015; 30: 1291-4
    CrossrefPubMedSearch in Google Scholar
  • 11 Soares-Fernandes JP, Magalhães Z, Rocha JF, Barkovich AJ. Brain diffusion-weighted and diffusion tensor imaging findings in an infant with biotinidase deficiency. AJNR Am J Neuroradiol 2009; 30: E128
    CrossrefPubMedSearch in Google Scholar
  • 12 Jain A, Jagdeesh K, Mane R, Singla S. Imaging in classic form of maple syrup urine disease: A rare metabolic central nervous system. J Clin Neonatol 2013; 2: 98-100
    CrossrefPubMedSearch in Google Scholar
  • 13 Warmuth-Metz M, Hofmann E, Büsse M, Solymosi L. Uncommon morphologic characteristics in Leigh’s disease. AJNR Am J Neuroradiol 1999; 20: 1158-60
    PubMedSearch in Google Scholar
  • 14 Arii J, Tanabe Y. Leigh syndrome: Serial MR imaging and clinical follow-up. AJNR Am J Neuroradiol 2000; 21: 1502-9
    PubMedSearch in Google Scholar