Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.

In this study, we report a novel connexin 32 (CX32) mutation associated with cognitive impairment and a differential degree of peripheral nerve involvement. We present clinical, electrophysiological, and neuroimaging data on a family with X-linked Charcot-Marie-Tooth disease caused by a 41A>G mutation of the gap junction protein beta 1 (GJB1) gene. The proband and her sister presented with a severe neuropathy with subclinical cognitive impairment; the proband's brother showed severe cognitive impairment and a mild neuropathy. This family report confirms that Charcot-Marie-Tooth type X is a clinically heterogeneous group, with great variability of phenotypes, possible severe involvement in females and clinical signs of cognitive impairment. Thus, this novel mutation should be added to the group of CX32 mutations with a central nervous system phenotype.

Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.

Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also present intellectual disability and congenital cardiopathies. Despite identification of at least 40 distinct hemizygous variants leading to NHS, genotype-phenotype correlations remain largely elusive. In this study, we describe a Sicilian family affected with congenital cataracts and dental anomalies and diagnosed with NHS by whole-exome sequencing (WES). The affected boy from this family presented a late regression of cognitive, motor, language, and adaptive skills, as well as broad behavioral anomalies. Furthermore, brain imaging showed corpus callosum anomalies and periventricular leukoencephalopathy. We expand the phenotypic and mutational NHS spectrum and review potential disease mechanisms underlying the central neurological anomalies and the potential neurodevelopmental features associated with NHS.

Microstructural investigation of masticatory muscles: a pre- and post-treatment diffusion tensor imaging study in a bruxism case.

We evaluated, by means of a non-invasive procedure based on MRI, the masticatory muscular microstructure in a 55-year-old-female patient affected by bruxism. The patient underwent MR examination before and after 1 month of splint therapy, when she mentioned the complete disappearance of all symptoms. By means of diffusion tensor imaging we observed changes at microstructural level of masticatory muscular complex. We conclude that diffusion tensor imaging may be a useful instrument both to perform panoramic reconstruction of the masticatory muscle complex and to investigate microstructural modifications related to the pain relief in bruxism.

Accessory oral cavity associated with duplication of the tongue and the mandible in a newborn: a rare case of Diprosopus. Multi-row detector computed tomography diagnostic role.

Craniofacial duplication is a very rare malformation. The phenotype comprises a wide spectrum, ranging from partial duplication of few facial structures to complete dicephalus. We report the case of a newborn with an accessory oral cavity associated to duplication of the tongue and the mandible diagnosed by multi-row detector Computed Tomography, few days after her birth. Our case of partial craniofacial duplication can be considered as Type II of Gorlin classification or as an intermediate form between Type I and Type II of Sun classification. Our experience demonstrates that CT scan, using appropriate reconstruction algorithms, permits a detailed evaluation of the different structures in an anatomical region. Multi-row CT scan is also the more accurate diagnostic procedure for the pre-surgical evaluation of craniofacial malformations.