ABSTRACT
We present four patients with ARX mutations and widely variant clinical presentations. Case 1, a female with a known ARX mutation has refractory infantile spasms and severe mental retardation. Case 2, a male presented with a neurodegenerative disorder and has a known ARX mutation likely de novo as mother is not a carrier. Cases 3 and 4, two siblings with a novel variant in ARX, which is not clearly pathogenic, have developmental delay. One of the siblings had a diagnosis of autistic spectrum disorder, failure to thrive with severe feeding difficulties, intracranial hemorrhage, and seizures. There are very few affected females with ARX related infantile spasms. These cases expand the known phenotype of this emerging condition.
Subject(s)
Homeodomain Proteins/genetics , Mental Retardation, X-Linked/genetics , Spasms, Infantile/genetics , Transcription Factors/genetics , Autistic Disorder/etiology , Autistic Disorder/genetics , Child, Preschool , DNA/biosynthesis , DNA/genetics , Failure to Thrive/etiology , Failure to Thrive/genetics , Female , Heredodegenerative Disorders, Nervous System/genetics , Heredodegenerative Disorders, Nervous System/pathology , Humans , Infant , Infant, Newborn , Intracranial Hemorrhages/etiology , Intracranial Hemorrhages/genetics , Mental Retardation, X-Linked/etiology , Mutation/physiology , Seizures/etiology , Seizures/genetics , Spasms, Infantile/etiologyABSTRACT
BACKGROUND: Erythema multiforme has been linked to numerous drugs and infectious agents. A link to oral contraceptive use has been reported in the past in the adult population but thus far has not been reported in children or adolescents. CASE: We report the case of an 18-yr-old female who developed oral erosions consistent with erythema multiforme two and a half weeks after initiating therapy with an oral contraceptive agent. A thorough examination for other inciting factors was negative, and the lesions slowly resolved over the course of 3 weeks. CONCLUSIONS: This case illustrates that erythema multiforme should be considered in the differential diagnosis of adolescents with oral erosions who have been prescribed oral contraceptives.
