Related Experiment Video

Updated: May 8, 2026

Functional Neuroimaging Using Ultrasonic Blood-brain Barrier Disruption and Manganese-enhanced MRI
08:36

Functional Neuroimaging Using Ultrasonic Blood-brain Barrier Disruption and Manganese-enhanced MRI

Published on: July 12, 2012

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

Hui Liu1, Xiaohe Yu2, Singting He2

  • 1Department of Radiology, Central South University, Xiangya Hospital, Changsha, China.

Current Medical Imaging
|February 23, 2024
PubMed
Abstract

Insights

Molybdenum cofactor deficiency type A (MoCD-A) is a rare genetic disorder. Early diagnosis using MRI and genetic analysis is vital for treatment and preventing future cases.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Molybdenum cofactor deficiency type A (MoCD-A) is an extremely rare autosomal recessive disorder.
  • It presents with severe neurological symptoms like intractable seizures in newborns.
  • Diagnostic challenges exist due to its rarity and potential misdiagnosis as hypoxic ischemic encephalopathy (HIE).

Approach:

  • Presents a case of MoCD-A in a male newborn with MOCS1 gene mutations, characterized by seizures and feeding difficulties.
  • Utilized brain MRI, including contrast-enhanced imaging (Gd-DTPA), to identify severe cerebral damage.
  • Reviewed clinical and neuroimaging findings of 25 MoCD-A cases from existing literature.

Key Points:

  • Magnetic resonance imaging (MRI) is a critical diagnostic tool for detecting brain injury in MoCD-A.
  • This case is the first reported MoCD-A with enhanced MR imaging using Gd-DTPA.
  • Genetic analysis confirmed the diagnosis, enabling appropriate genetic counseling for the family.

Conclusions:

  • MRI, particularly enhanced imaging, is crucial for diagnosing MoCD-A.
  • Early and accurate diagnosis facilitates timely genetic counseling.
  • Preventing misdiagnosis improves patient outcomes and allows for family planning.
Keywords:
Contrast MRIFeeding difficultiesMolybdenum cofactor deficiencyNeuroimaging.PatientSeizures

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