[MIM 612 199]

(cerebro-retinal microangiopathy with calcifications and cerebral cysts, CRMCC)

Prevalence: < 1/106. Autosomal recessive transmission of a mutation of CTC1 gene on 17p13.1.

Association of:

-        retinal telangiectasia with exudates (Coats disease, see this term)

-        intracerebral calcification, leukodystrophy, brain cysts that cause: spasticity, seizures, ataxia, dystonia, and loss of acquired skills

-        systemic manifestations: osteopenia (fractures), vascular ectasias at the level of the digestive tract and the liver that can lead to gastrointestinal bleeding and portal hypertension

-        sometimes: anemia, thrombocytopenia.

-        sometimes: dextrocardia and abdominal situs inversus

Anesthetic implications: 

check total blood count and liver function; chest X-Rays; mangement of a polyhandicapped and/or epileptic child; risk of intracranial and intraocular hypertension

References : 

-        Das BP, Mishra LD.
Anesthetic management of an unusual case of Coats‘ disease complex: use of dexmedetomidine.
J Neurosurg Anesthesiol 2016; 28: 427-8

Updated: October 2016