A Comprehensive Case Report of OPHN1 X-Linked Intellectual Disability and a Hazardous Association with Familial Mediterranean Fever Heterozygote Mutation

report the case of a 4,5 years-old boy diagnosed as having OPHN1 mutation with full clinical and diagnostic investigations that directed us to the final diagnosis. Case PresentationThe case was a 4,5 YO boy, born on 2019, by an elective cesarean section from no -consanguineous parents with normal first male sibling, he was admitted on March 2024 to the pediatric intensive care unit (PICU), for severe sepsis and pneumonia, with a history of multiple hospitalization due to recurrent fever and infections.given his special features and clinical findings that consist of (Table 1) & (Figure 1).