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2000
Volume 20, Issue 1
  • ISSN: 1573-4056
  • E-ISSN: 1875-6603
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Abstract

Introduction:

Molybdenum cofactor deficiency (MoCD-A) is an extremely rare autosomal recessive disease that presents with intractable seizures. The diagnosis poses challenges due to the limited number of cases reported worldwide. Magnetic resonance imaging (MRI) is a useful diagnostic tool that can detect brain injury associated with the disorder. The prognosis of MoCD-A is poor partly because most cases are initially misdiagnosed as HIE (hypoxic ischemic encephalopathy), emphasizing the need for an early and accurate diagnosis to improve quality of life and provide adequate genetic counseling to avoid new cases in the future.

Case Report:

This report presents a case of molybdenum cofactor deficiency type A (MoCD-A) caused by gene mutations. A male newborn was admitted on the 10th day of birth due to uncontrolled seizures and feeding difficulties. Brain MRI showed severe cerebral damage with multiple foci that did not enhance upon contrast administration. The diagnosis was confirmed by genetic analysis and the patient received rehabilitation. His parents also received genetic counseling. To the best of our knowledge, this is the first reported MoCD-A case that had enhanced MR imaging with Gd-DTPA (0.1 mmol/kg). In addition, we reviewed the clinical and neuroimaging features of 25 newborns diagnosed with MoCD-A, as documented in the existing literature.

Conclusion:

MRI is crucial in the diagnosis of MoCD-A. A correct diagnosis can provide the family with timely genetic counseling to prevent future cases.

© 2024 The Author(s). Published by Bentham Science Publisher.
This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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2023-12-12
2025-10-15

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New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review
Curr. Med. Imaging 20, e15734056259160 (2024); https://doi.org/10.2174/0115734056259160231106075042
/content/journals/cmir/10.2174/0115734056259160231106075042
/content/journals/cmir/10.2174/0115734056259160231106075042
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  • Article Type:     Case Report
Keyword(s): Contrast MRI; Feeding difficulties; Molybdenum cofactor deficiency; Neuroimaging; Patient; Seizures

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