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Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2010 May; Vol. 20 (5), pp. 343-5. Date of Electronic Publication: 2010 Mar 28. - Publication Year :
- 2010
-
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.<br /> (2010 Elsevier B.V. All rights reserved.)
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 1873-2364
- Volume :
- 20
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Academic Journal
- Accession number :
- 20350809
- Full Text :
- https://doi.org/10.1016/j.nmd.2010.03.003