title: Two new familial severe infantile spasm syndromes in males.
abstract: We describe two new familial severe infantile spasm syndromes (ISSs) unrelated to Aristaless-related homeobox (ARX) gene mutation. Family A contains two male siblings each with dysmorphism, profound psychomotor delay, gastroesophageal reflux, infantile spasms, hypsarrhythmia, prominent independent central apneas, and early death. Family B contains two male siblings with dysmorphism, profound psychomotor delay, ambiguous genitalia, macular hypoplasia, neurosensory hearing deficit, gastroesophageal reflux, infantile spasms, no hypsarrhythmia, apneas, and early death in one sibling. Etiologic workup and ARX gene sequencing were negative. This indicates that several familial ISSs exist but are not genetically characterized.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Pascale E
authors.initials: PE
authors.lastname: Karam
authors.forename: Chantal
authors.initials: C
authors.lastname: Farra
authors.forename: Alhan
authors.initials: A
authors.lastname: Shamseddine
authors.forename: Mohamad A
authors.initials: MA
authors.lastname: Mikati
mesh_terms: D004569:Electroencephalography; D005192:Family Health; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D013036:Spasms, Infantile / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology