Skip to main content
  Sign In   Register

ePoster Presentations Proceedings »

Cystic Leukoencephalopathy; a confusing neuroimaging feature!

Cystic Leukoencephalopathy; a confusing neuroimaging feature! Case presentation: Nine-month-old identical twin boys referred due to uncontrolled seizure and developmental regression. The history of premature delivery at 32 weeks of gestation, spasticity, developmental delay, and neuroimaging report led to making a cerebral palsy diagnosis. Regardless of the radiologist report in favor of hypoxic-ischemic findings, a new neuroimaging was performed to make a comparison to the first one. All details were reviewed again precisely. Multiple widespread massive cystic lesions, gray and white matter atrophy and Ventriculomegaly were prominent findings on both MRIs although progressive changes were visible on the last imaging. On account of consanguinity background, developmental regression and a continuous non-static disease course, refractory seizures, progressive neuroimaging changes, a genetic study was considered to evaluate the underlying etiology. A homozygous pathogenic variant in the MOCS2 gene, which leads to molybdenum cofactor deficiency, was detected. The diagnosis was confirmed by segregation analysis in the patients (twin brothers) as well as parents (parents were heterozygote for the mutation). Conclusion: Regardless of the same imaging feature, different diagnoses might be considered. The progressive course of the disease, loss of developmental ability achieved before, consanguineous parents, ongoing neuroimaging abnormal findings are as opposed to a static situation such as cerebral palsy.
Keywords: Cystic leukoencephalopathy, molybdenum cofactor deficiency,MOCS2 gene

Zahra Rezaei
Tehran Medical Sciences
Iran

Mahmoud Mohammadi
Tehran Medical University
Iran

 

 


®2002-2021 ICNApedia