Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome

Abstract

Observations have been made on the peripheral nerve changes in four patients, ranging in age from 4 to 32 years, with the congenital cataracts facial dysmorphism neuropathy syndrome. Myelinated fibre density was within normal limits. The salient abnormality was diffuse hypomyelination which, in the older patients, was associated with demyelination and then axonal degeneration. These findings could be correlated with the relative preservation of sensory action potential amplitude despite markedly reduced nerve conduction velocity. Unmyelinated axon density was preserved. The morphological observations suggest the operation of a developmental process affecting myelination with a later superimposed degenerative disorder.

Hereditary motor and sensory neuropathy‐russe: New autosomal recessive neuropathy in balkan gypsies

“…Diffuse hypomyelination was found in the cases of Leigh's disease reported by Jacobs and colleagues 11. and in CCFDN syndrome,5 in which the reduction of MNCV was of similar magnitude.…”

“…These are hereditary motor and sensory neuropathy‐Lom (HMSN‐L), a distal, length‐related demyelinating neuropathy associated with sensorineural deafness,1, 2 mapped to chromosome 8q24,1 and caused by a truncating mutation in the N‐myc downstream‐regulated gene‐1. 3 The second, congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome, is a complex condition combining congenital cataracts, microcorneae, facial dysmorphism, mental retardation, small stature, and hypogonadism with a predominantly motor hypomyelinating neuropathy sometimes with pyramidal signs and mild chorea;4, 5 it maps to chromosome 18qter 6…”

Marinesco–Sjögren syndrome in a male with mild dysmorphism

“…The facial features in CCFDN have been described as mild ptosis, a prominent midface with a large nose, anteriorly directed incisor teeth, fleshy perioral tissues with wide and thickened lips, and hypognathism [Tournev et al, 1999a; Merlini et al, 2002]. This physical appearance develops during childhood, becoming more obvious in early adolescence and is more common in males [Tournev et al, 1999b]. These features are clearly distinguishable from those observed in MSS, which are far more likely to reflect the underlying myopathic (ptosis, long and narrow face) or neuromuscular process.…”

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome

“…15 18 Muscle biopsy of the patients in family 1 showed structures characteristic of MSS ( fig 3B). No muscle biopsy was available from the patients in family 2, but Tournev et al 19 described only neurogenic changes on muscle biopsy of a CCFDN patient.…”