Cataracts: congenital - facial dysmorphy - neuropathy
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(CCFDN)
Extremely rare. All the cases describedbelong to the Rudari community (Rom's) (6-7% of carriers of the mutation). Autosomal recessive transmissionof a mutation in the CTDP1 gene (18qter), that causes an abnormality of RNA polymerase II and so of the transcription of some genes. The phenotype is close to Marinesco-Sjogren's syndrome (see this term) in which there is no microcornea but cerebellar ataxia.
Association of:
- bilateral congenital cataracts with microcornea, microphthalmia, and micropupilla; sometimes nystagmus and pseudoptosis; inflammatory over-reaction in response to the use of contact lenses
- peripheral demyelinating symmetric neuropathy, especially motor neuropathy: histologically, there is a hypomyelination of all nerve fibres
- moderate psychomotor retardation
- mild facial dysmorphism that appears at the end of childhood: hypognathism with teeth pointing forward and perioral tissue thickening
- hypotonia: areflexia and atrophy of neurogenic origin (cfr neuropathy)
- hypergonadotrophic hypogonadism
- short stature and mild microcephaly
- osteoporosis
Sometimes:
- episodes of rhabdomyolysis with myalgia and massive myoglobinuria related to viral infection
- kyphoscoliosis, deformation of the feet
- brain and spinal cord atrophy in MRI
One poorly documented paper has reported a possible increased risk of anesthetic complications.
Anesthetic implications:
visual deficiency, mild mental retardation, short stature; eye protection; neurostimulation (monitoring of the curarization and nerve blocks) is not reliable. Avoid factors favouring rhabdomyolysis: succinylcholine, high doses of halogenated agents ? NSAIDs ? limb tourniquet ? However there is no risk of malignant hyperthermia.
References :
- Tournev I, King RHM, Workman J, Nourallah M et al.
Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome.
Acta Neuropath 1999; 98: 165-70.
- Müllner-Eidenböck A, Moser E, Klebermass N, Amon M et al.
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.
Ophthalmology 2004; 111: 1415-23.
- Kalaydjieva L.
Congenital cataracts-Facial dysmorphism- Neuropathy.
Orphanet J Rare Diseases 2006 ; 1 : 32
- Kalaydjieva.
Congenital cataracts, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies.
Orphanet J Rare Diseases 2014 ; 9 : 46
- Masters OW, Bergmans E, Thies K-C.
Anaesthesia and orphan disease: a child with Congenital Cataract Facial Dysmorphism Neuropathy (CCFDN) syndrome.
Eur J Anaesthesiol 2017; 34: 178-180
Updated: May 2017