Рентгенология & Радиология, 2013, LII 171-177

Magnetic resonance of rare inherited neurological
diseases – сongenital cataracts, facial dysmorphism
neuropathy syndrome and myotonic dystrophy
type 1 and type 2
D. Zlatareva, I. Tournev, T. Chamova, V. Hadjidekov

 Abstract.
Magnetic resonance imaging (MRI) is the technique of choice for diagnostic imaging of rare inherited neurological diseases. The aim of this review is to summarize the data about clinical and imaging findings of Congenital Cataracts, Facial Dysmorphism Neuropathy (CCFDN) syndrome and myotonic dystrophy type 1 and type 2. Congenital cataracts, facial dysmorphism neuropathy (CCFDN) syndrome is a rare genetic disorder of autosomal recessive inheritance, observed in patients of Gypsy ancestry. All patients are homozygous for the same mutation in the CTDP1 gene mapping to 18qter. The clinical manifestations of the disease include congenital cataracts, facial dysmorphism, peripheral neuropathy due to primary hypomyelination, intellectual impairment and involvement of central nervous system. The number of studies for brain MRI findings of patients with CCFDN syndrome is relatively small and there are no follow up MRI studies. In this review typical findings are depicted and results of recent studies are discussed. Myotonic dystrophy type 1 (DM1, Steinert disease) and type 2 (DM2, PROMM) are multisystemic diseases with autosomal dominant inheritance and common cognitive deficits beside the cardinal muscular symptoms. In this review discrepancies in the data from different studies regarding the frequency, location and morphology of brain MR findings in DM1 and DM2 and their association with onset and duration of disease, neuromuscular status and mode of inheritance. On the basisof literature the need of imaging and follow up of bigger patients’ group is emphasized.
Key words: CNS. CONGENITAL CATARACTS. FACIAL DYSMORPHISM NEUROPATHY (CCFDN) SYNDROME.MYOTONIC

DYSTROPHY TYPE I AND TYPE II. MRI