Sarah Thurman, Callie Fischer, Julie Guerin, Ralitza Gavrilova, Michael Brodsky
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引用次数: 0
Abstract
Purpose: To document the association of CAD-related disorder (EIEE-50) with cortical visual impairment.
Observations: An 8-month-old Caucasian boy with whole genome sequencing confirming 2 variants in the gene CAD, who presented with severe seizures, microcephaly, hyperreflexia, hypotonia, anemia, and severe cortical visual impairment. Magnetic resonance imaging (MRI) of the brain noted thickened cortical gray matter along the right calcarine fissure as well as changes suggesting malformation of cortical development. Empiric uridine monophosphate supplementation has significantly improved seizure activity, hypotonia, and development and has led to resolution of anemia.
Conclusions and importance: CAD-related disorder is treatable and may affect visual cortical development causing severe secondary cortical visual impairment, a newly described clinical manifestation.
期刊介绍：
The Journal of Child Neurology (JCN) embraces peer-reviewed clinical and investigative studies from a wide-variety of neuroscience disciplines. Focusing on the needs of neurologic patients from birth to age 18 years, JCN covers topics ranging from assessment of new and changing therapies and procedures; diagnosis, evaluation, and management of neurologic, neuropsychiatric, and neurodevelopmental disorders; and pathophysiology of central nervous system diseases.
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