Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) gene are responsible for the disease. The present report describes, for the f...

schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. mutations in swi/snf2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (smarcal1) gene are responsible for the disease. the present report describes, for the first tim...

Behcets disease is a chronic multisystem disorder characterized by relapsing inflammation for which the underlying histopathology an occlusive vasculitis. Intracardiac thrombosis rare complication of disease. The management this involvement difficult due to risk recurrence. We prresent case young man admitted our hospital hemoptysis. discovered right ventricle thrombus on CT angiogram and we co...

Clinical record A 51-year-old woman was referred to hospital after an incidental fi nding of abnormal liver function test results (γ-glutamyl transpeptidase, 271 U/L [reference interval (RI), < 60 U/L]; alkaline phosphatase, 220 U/L [RI, 30–110 U/L]; hepatic transaminases, normal), acute renal impairment (urea, 11.7 mmol/L [RI, 2.7–8.0 mmol/L]; creatinine, 207 μmol/L [RI, 50–100 μmol/L]) and el...

Multisystem inflammatory syndrome in children (MIS-C), also termed pediatric multisystem (PMIS) temporally associated with coronavirus disease-2019 (COVID-19) is rare but an emerging alarming condition. Though the exact pathogenesis unknown, COVID-19 can trigger condition directly or indirectly via immune complex mediated antibody-dependent enhancement. Patients MIS-C present persistent fever a...

Preeclampsia is a hypertensive, multisystem disorder of pregnancy whose etiology remains unknown. Although management is evidence-based, preventative measures/screening tools are lacking, treatment remains symptomatic, and delivery remains the only cure. Past hypotheses/scientific contributions have influenced current understanding of preeclampsia pathophysiology and guided management strategie...

Whipple's disease has traditionally been considered to be a rare multisystem disorder dominated by malabsorption. The recent identification of the Whipple's disease bacillus has, using polymerase chain reaction based assays, fueled advances in the investigation, diagnosis, and management of this disease. This leader reviews the aetiology, clinical manifestations, investigation, and treatment of...