2 research outputs found
Atypical presentation for a gastrointestinal basidiobolomycosis and rare side effect of Voriconazole: A case report and literature review
No full textGastrointestinal basidiobolomycosis (GIB) is a rare fungal infection often misdiagnosed with other gastrointestinal disorders. We report a case of a 6-year-old boy from Saudi Arabia who presented with fever, abdominal pain, and weight loss, initially suspected to have inflammatory bowel disease. Despite antibiotics, symptoms persisted, leading to a GIB diagnosis with liver involvement. IV voriconazole improved his condition but caused visual hallucinations, managed by dose adjustments. This case underscores the need for early suspicion of GIB in endemic areas and highlights the importance of prompt diagnosis and a multidisciplinary approach to improve outcomes and reduce complications
Kabuki Syndrome with Chiari malformation type II: A case report
Get PDFKabuki syndrome is a rare genetic disorder, characterized by typical facial features, hypotonia, developmental delay and intellectual disabilities. We report here a Saudi female infant diagnosed as a case of Kabuki syndrome clinically and confirmed by molecular genetic testing. She was admitted at birth to neonatal ICU due to hydrocephalus and meningomyelocele and found to have Chiari malformation type II on radiological evaluation of the brain. Whole exome sequencing (WES) was sent for her and showed pathogenic variant in KDM6A which confirm the diagnosis of Kabuki syndrome
