Publications by authors named "Reem A AlQusaimi"
Henoch-Schönlein purpura (HSP), or anaphylactoid purpura, is an acute, self-limited small-vessel vasculitis commonly affecting children aged 3-10. It features a classic tetrad: palpable non-thrombocytopenic purpura, abdominal pain, polyarthralgia, and renal involvement. While the prognosis is generally favorable, long-term outcomes depend on renal involvement.
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- The study investigates a specific genetic variant in the endoplasmic reticulum membrane protein complex, linked to a rare condition called cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR), in individuals from five Kuwaiti families.
- Researchers conducted exome sequencing and confirmed the presence of a pathogenic variant [c.245C>T:p.(Thr82Met)] in these families, previously associated with similar symptoms in a Turkish family.
- Clinical features observed in the affected individuals included developmental delays, hypotonia, visual problems, and brain imaging revealed cerebellar atrophy, highlighting the severe impact of the variant on neurological development.