Introduction

Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder characterized by severe developmental delay, epilepsy, ataxic gait, and frequent laughter or smiling. The syndrome results from a lack of function of the imprinted ubiquitin protein ligase E3A (UBE3A) gene on chromosome 15q11.2–q13 [1], [2]. Prevalence of AS is approximately 1 per 20,000 births [3]. Four different molecular defects may lead to the AS phenotype. Of these, recurrent de novointerstitial deletion of chromosomal region 15q11–q13 represents the most common genetic mechanism, found in about 75% of individuals with the condition [2]. Uniparental disomy (UPD), imprinting defects (IC), and UBE3A gene mutations are additional genetic causes [2]. The severity of AS has been reported to vary among these genotypes, with the most common also being the most severe. Most individuals with AS are able to walk; no previously described cases have been severe enough to bedridden [4], [5]. Although the clinical course of AS has been reported for both children and adults, we found no examples in the literature where laryngotracheal separation was required. Even among the most profound forms of AS, reports of gastrostomy are few [5]–[7]. Here we report a bedridden case who suffered frequent episodes of aspiration pneumonia necessitating ventilator management, and who ultimately required laryngotracheal separation (LTS).