CLINICAL AND NEUROPHYSIOLOGICAL FEATURES OF NEUROPATHY OF THE FACIAL NERVE

Abstract

 ABSTRACT. Biallelic mutations in the PTRH2 gene have been associated 
with infantile multisystem neurological, endocrine, and pancreatic disease (IMNEPD), 
a rare autosomal recessive disorder of variable expressivity characterized by global 
developmental  delay,  intellectual  disability  or  borderline  IQ  level,  sensorineural 
hearing loss, ataxia, and pancreatic insufficiency. Various additional features may be 
included, such as peripheral neuropathy, facial dysmorphism, hypothyroidism, hepatic 
fibrosis, postnatal microcephaly, cerebellar atrophy, and epilepsy. Here, we report the 
first Italian family presenting only predominant neurological features.