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.

Cordelli D.M., Garone C., Marchiani V., Lodi R., Tonon C., Ferrari S., et al. (2010). Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). NEUROMUSCULAR DISORDERS, 20, 343-345 [10.1016/j.nmd.2010.03.003].

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

Cordelli D. M.;GARONE, CATERINA;MARCHIANI, VALENTINA;LODI, RAFFAELE;TONON, CATERINA;FERRARI, SIMONA;SERI, MARCO;FRANZONI, EMILIO
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.
2010
Cordelli D.M., Garone C., Marchiani V., Lodi R., Tonon C., Ferrari S., et al. (2010). Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). NEUROMUSCULAR DISORDERS, 20, 343-345 [10.1016/j.nmd.2010.03.003].
Cordelli D.M.; Garone C.; Marchiani V.; Lodi R.; Tonon C.; Ferrari S.; Seri M.; Franzoni E.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/92324
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