[MIM 604 468]

(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