Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a CACNA1C Pathogenic Variant and Segmental Ileal Dilatation.

Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature. The full spectrum of the syndrome is not yet known. Here we report a girl who presented with new onset refractory seizures and an undiagnosed cause of intermittent abdominal distention.

Kawasaki shock syndrome in an Arab female: case report of a rare manifestation and review of literature.

Background: Kawasaki disease shock syndrome is a relatively new and rare complication of Kawasaki disease first described in 2009.

Case Presentation: This report describes a two-year-old Arab descent female presenting with a history of high-grade fever of 2 days duration with non-specific signs of viral illness and erythematous rash. The patients' condition deteriorated rapidly requiring admission to intensive care unit.