1. Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).
- Author
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Cordelli DM, Garone C, Marchiani V, Lodi R, Tonon C, Ferrari S, Seri M, and Franzoni E
- Subjects
- Child, Humans, Magnetic Resonance Imaging methods, Male, Cataract complications, Cataract congenital, Cataract pathology, Cerebral Cortex pathology, Face abnormalities, Facial Nerve Diseases complications, Facial Nerve Diseases congenital, Facial Nerve Diseases pathology, Nerve Fibers, Myelinated pathology
- Abstract
Congenital Cataracts with Facial Dysmorphisms and Neuropathy (CCFDN) is a complex autosomal recessive disorder characterized by bilateral congenital cataracts, developmental delay, peripheral; hypo-demyelinating neuropathy, mild facial dysmorphisms, and other rare signs. Cerebral and spinal cord atrophy is the main neuroimaging finding but other less common abnormalities have been previously described. We describe progressive focal lesions of supratentorial white matter in a 10-year-old boy affected by CCFDN. Other etiologies have been excluded and these lesions can be considered a new finding of the disease. We discuss a possible demyelinating mechanism affecting both peripheral and central myelin., (2010 Elsevier B.V. All rights reserved.)
- Published
- 2010
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