Title:New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency
Type A: A Case Report and Literature Review
Volume: 20
Author(s): Hui Liu, Xiaohe Yu*, Singting He and Shuquan Li
Affiliation:
- Department of Pediatrics, Central South University, Xiangya Hospital, Changsha, China
Keywords:
Feeding difficulties, Molybdenum cofactor deficiency, Seizures, Contrast MRI, Patient, Neuroimaging.
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.
