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L1CAM mutation and diffuse polymicrogyria (CT)

CT scan of 5-week-old patient with a L1CAM mutation shows a 1 cm cortical mantle (1a). CT scan at 20 months of age reveals a typical decrease in size of the hydrocephalus with increased thickness of brain parenchyma (1b). Lateral view of the right cerebral hemisphere of the same patient at autopsy shows diffuse polymicrogyria (2a). Coronal section of the hemispheres of patient 1 shows a thin cerebral mantle with significant reduction of white matter and a thin membranous corpus callosum (2b). (Contributed by Dr. William Graf.)

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Associated Disorders

  • CRASH syndrome
  • Complex spastic paraplegia
  • MASA syndrome