New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review.

Curr Med Imaging

Department of Pediatrics, Central South University, Xiangya Hospital, Changsha, China.

Published: February 2024

AI Article Synopsis

  • * A case study highlights a newborn diagnosed with MoCD-A due to MOCS1 gene mutations, showing significant brain damage on MRI, and the importance of genetic counseling for the family.
  • * The report emphasizes the role of MRI in diagnosing MoCD-A and improving family outcomes through proper genetic counseling to prevent additional cases.

Article 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 MOCS1 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.

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Source
http://dx.doi.org/10.2174/0115734056259160231106075042DOI Listing

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