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Neuroimaging Features of Biotinidase Deficiency.

A Biswas^1,2, C McNamara², V K Gowda³

¹From the Department of Diagnostic Imaging (A.B., S. Blaser), The Hospital for Sick Children, Toronto, Ontario, Canada asthikbiswas@gmail.com.

AJNR. American Journal of Neuroradiology

|February 9, 2023

Summary

Biotinidase deficiency, a genetic disorder, causes severe symptoms but is treatable with biotin. Early MRI diagnosis is crucial, especially where newborn screening is unavailable.

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Area of Science:

Genetics and Metabolic Disorders
Neuroimaging
Pediatric Neurology

Background:

Biotinidase deficiency is an inherited metabolic disorder.
Pathogenic variants in the BTD gene impair biotin metabolism.
This leads to carboxylase enzyme deficiencies and associated symptoms.

Purpose of the Study:

To describe the MR imaging findings in biotinidase deficiency.
To correlate imaging patterns with age and clinical presentation.
To aid early diagnosis of this treatable condition.

Main Methods:

Retrospective review of 14 patients with biotinidase deficiency.
Analysis of MR imaging across various age groups.
Correlation of imaging findings with clinical data.

Main Results:

Distinct MR imaging patterns were observed in patients with biotinidase deficiency.
Imaging findings varied with age.
These patterns can aid in diagnosis.

Conclusions:

MR imaging is a valuable tool for diagnosing biotinidase deficiency.
Recognizing specific imaging patterns can facilitate early detection.
Prompt diagnosis and biotin treatment are critical for managing this disorder.