PP05.12 – 2659: Congenital cataract with facial dysmorphism and neuropathy (CCFDN): Clinical presentation and genetic correlation

Abstract

Objective Congenital cataracts and peripheral nerve disease are described in a heterogeneous group of disorders. Other clinical features and genetic testing can guide the differential diagnosis. We present the clinical features and genetic correlation of a patient with congenital cataracts, peripheral neuropathy and associated choreoathetosis. Methods Case description providing the results of complementary tests. Results Previously known patient from Romania since she was 9 months old, presented to our hospital with bilateral congenital cataracts, which were operated in her country of origin. She showed signs of motor and intellectual development delay (she sat well unsupported at 24 months and started walking at 4 yo), ataxic gait and choreiform movements that increased when standing or with purposeful movements. Additionally, she presented bilateral atrophy of short extensor muscles of the toes, valgus feet, absent osteotendinous reflexes, obesity and slight facial dysmorphism (rounded face and microphthalmia). MRI and EEG were normal. Motor conduction studies showed slowing into the demyelinating range, with no sensory component. Molecular study ruled out mutation in the SIL1 gene (Marinesco-Sjogren syndrome) but showed a homozygous mutation in the CTDP1 gene (c.863+389C>T), thus confirming the suspected diagnosis. Conclusion CCFDN is a rare autosomal recessive disorder that is prevalent among Gypsies from central Europe. A patient showing abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), motor and intellectual development delay and ataxic gait should be considered for the molecular study of CTDP1 gene. Occasionally patients may associate mild dysmorphic facial features and cerebellar dysfunction. Choreoathetosis may be prominent and interferes with daily activities. The differential diagnosis should include Marinesco-Sjogren syndrome and disorders involving demyelinating peripheral neuropathy.