Specialized Arab Hospital

Distal femur fractures, particularly in patients with intellectual disabilities, pose unique challenges due to factors such as non-compliance with postoperative instructions and recurrent fixation failures. These complications necessitate multiple surgical interventions, increasing morbidity and disability. A 59-year-old female with intellectual disability and comorbid diabetes and hypertension sustained a distal femur fracture. Initial management included open reduction and internal fixation (ORIF) with plating. However, due to non-adherence to postoperative instructions, the patient experienced recurrent fixation failures, necessitating two revision surgeries involving long lateral distal femur locking plates and additional stabilization techniques, including cerclage wiring. Despite comprehensive care, the patient faced prolonged recovery and functional limitations. We present the challenges in managing distal femur fractures in patients with cognitive impairments, including non-compliance and biomechanical complications. Also, we highlight the importance of advanced surgical techniques, tailored postoperative care, and close monitoring to prevent recurrent failures. A holistic care approach addressing both physical and cognitive aspects is essential for improving outcomes in this vulnerable population. Managing distal femur fractures in intellectually disabled patients requires a combination of advanced fixation techniques, enhanced patient and family education, and vigilant follow-up to mitigate complications. This case emphasizes the need for multidisciplinary strategies that integrate psychological resilience into perioperative care to optimize recovery and reduce long-term disability.

All reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664C>T (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of life, despite the presence of nearly normal NK and T cell numbers. Reporting five children of one extended family with hemizygous mutations in IL2RG, we explore potential diagnostic clues and extend our comprehension of the functional impact of this mutation. Whole exome sequencing (WES); detailed immune phenotyping; cytokine-induced STAT phosphorylation; B, T, and NK cell activation; and quantification of sjTRECs in five Arab children with c.664C>T (p.R222C) IL2RG mutation. The mean age at clinical presentation with respiratory tract infection or diarrhea was 6.8 (range: 2-12) months. None of the children presented with opportunistic infections. Diagnostic clues were early onset in the first year of life, and a suggestive family history associated with reduced naïve CD4 T cells and absent switched memory B cells. Number and phenotype of NK cells and innate-like lymphocytes were normal. The diagnosis was made by WES and corroborated by absent STAT phosphorylation and reduced functional response after IL-2 and IL-21 stimulation. Four patients underwent successful hematopoietic stem cell transplantation. As early diagnosis and treatment are important, a high index of suspicion in the diagnosis of c.664C>T (p.R222C) X-SCID is needed. This requires prompt genetic testing by next generation sequencing in order to avoid unnecessary delays in the definite diagnosis since immunological work up may not be discriminating. Assays directly testing cytokine signaling or cytokine-dependent functions are helpful in confirming the functional impact of the identified hypomorphic variants.

Leukocyte adhesion deficiency type 1 (LAD-1) is an autosomal recessive primary immunodeficiency, hallmarked by defective polymorphonuclear transmigration. It is caused by mutations in the gene encoding CD18, which interfere with the CD18/CD11 heterodimerization and expression on leukocyte cell surface. LAD-1 diagnosis rests primarily on the measurement of CD18 expression. However, CD18 measurement entails its pitfalls. Here we present a cohort of ten LAD patients and a review of the relevant literature illustrating the difficulties in sole reliance on CD18 measurement for initial diagnosis. These include normal range expression in some mutations, great variability between patients with the same mutation and subjective interpretation of results. We think there is a need for additional markers as part of the initial LAD diagnostic algorithm. We suggest CD11a expression, which was near absent in all patients in our cohort. The dual use of CD18 and CD11a can increase testing sensitivity and prevent delayed diagnosis of LAD-1.