Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration

Authors


  • How to Cite this Article: Kuki I, Kawawaki H, Okazaki S, Kimura S, Nakano T, Fukushima H, Inoue T, Tomiwa K, Itoh M. 2011. Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration. Am J Med Genet Part A 155: 2832–2837.

Abstract

We report on a 12-year-old male with a unique cerebral white matter disease. His initial symptoms were congenital hearing loss and multiple intracranial calcifications on head CT. He developed severe intellectual disability and epilepsy. MRI showed signal abnormalities in the posterior limbs of the internal capsules, thalami, and cerebral white matter. The abnormalities were progressive over time. The neuropathology revealed diffuse and severe disruption of myelin and axons of the cerebral white matter and cerebrospinal tracts. We performed various metabolic examinations, detailed pathological investigations and genetic analyses, but could not identify the cause. To our knowledge his clinical course has not been described in the literature. © 2011 Wiley Periodicals, Inc.

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