Carotid Cavernous Fistula as a Rare and Late Complication of Maxillofacial Injury: A Brief Clinical Study.

Carotid- Cavernous Fistula (CCF) represents an aberrant vascular communication at the skull base between the high-flow carotid arterial system and the low-flow venous channels within the cavernous sinuses of the sphenoid bone. Benjamin Travers, in the year 1809, described this condition as "pulsating exophthalmos". This case is a presentation of a carotid cavernous fistula in an operated case of maxillofacial injury as a late complication. The individual presented with a nonresolving proptosis and chemosis for the past 9 weeks. This presentation enumerates how the diagnosis was made, though being a rare complication and how it was promptly managed that resulted in a remarkable resolution of signs and symptoms.

A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.

Background: Mental retardation, X-linked, syndromic, Houge type (MRXSHG) is a form of mental retardation characterized by intellectual disability, speech and language impairments, and early-onset seizures. It has been recently recorded in Online Mendelian Inheritance in Man (OMIM), and only 10 cases have been reported in the literature so far. Objective: To highlight the novel neuroimaging findings in the pediatric X-linked intellectual disability with a missense mutation of connector enhancer of kinase suppressor of RAS2 (CNKSR2) gene. Material and Methods: We present a case of intellectual disability, refractory epilepsy, speech and language delay with subtle dysmorphism, and behavioral issues in an 11-year-old boy with novel neuroimaging findings in a CNKSR2 gene with missense mutation. Results: Brain MRI revealed involvement of the basal ganglia, predominantly the neostriatum, and along with the subependymal aspects with focal cavitations involving, especially the bilateral caudate heads. There was relative sparing of the globus pallidi and posterior putamina bilaterally. Whole-exome sequencing identified a hemizygous missense pathogenic variant in the CNKSR2 gene. The mother was found to be an asymptomatic carrier. Conclusion: This case report highlights the rare missense mutation in the CNKSR2 gene and abnormal neuroimaging findings, which further provide information about the phenotypic characteristics of X-linked syndromic intellectual disability.