CCFDNCongenital Cataracts, Facial Dysmorphism, and Neuropathy
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The cognitive impairment in CCFDN seems quite homogeneous, limited to borderline intelligence or mild mental retardation and language abilities, developed at a concrete and pragmatic level, whereas MSS patients have a large spectrum of neuropsychological involvement, ranging from normal intelligence to severe mental retardation [16,17].
[8] in terms of, for example, the presence of pyramidal signs, extrapyramidal hyperkinesia, and ataxia were observed in 5 CCFDN patients from our group.
Although demyelinating peripheral neuropathy has been extensively studied in patients with CCFDN syndrome [1, 9], structural changes of the central nervous system are still to be elucidated [1, 6, 9,18].
The main abnormalities on brain MRI include diffuse cerebral atrophy, enlargement of the lateral ventricles, and focal lesions in the subcortical white matter, different in number and size, consistent with demyelination more pronounced in the older CCFDN patients.
In contrast to the hypomyelination in the peripheral nerves in our series of CCFDN patients no typical features of hypomyelination or delayed myelination were observed [22, 23].
Youl et al., "The congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel complex genetic disease in Balkan gypsies," Annals of Neurology, vol.
Voudris et al., "Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis," European Journal of Pediatrics, vol.
Kalaydjieva, "Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter," European Journal of Human Genetics, vol.
Zimmermann et al., "Long-term follow-up in patients with CCFDN syndrome," Neurology, vol.
Gooding et al., "Congenital cataract facial dysmorphism, neuropathy (CCFDN) syndrome--clinical, neuropathological and genetic investigations," Acta Myologica, vol.