Dados do Trabalho

Título

Sleep Disorders in Costello Syndrome

Introdução

Costello Syndrome (CS) results from a mutation in the protoncogene HRAS. The syndrome is characterized by craniofacial dysmorphisms, intellectual disability, and verrucous papillomatosis. Patients have a high prevalence of upper airway obstruction during sleep, with snoring, episodes of apnea and hypopnea, and frequent arousals.

Objetivo

We describe a case in which a child diagnosed with Costello syndrome had rhythmic sleep movement disorders as well as non-REM sleep parasomnias.

Métodos

A 6 years-old, male children, diagnosed with CS, had craniofacial dysmorphisms, hydrocephalus, and neuropsychomotor developmental delay. He also had snoring, nocturnal awakenings, mouth breathing, and episodes of witnessed apnea with cyanosis. His mother has reported rhythmic and repeated movements before sleep onset, characterized by lateral body movements. Besides this, she has complained of violent actions, suggestive of sleep terror, and episodes of confusional arousals. The children had poor sleep hygiene habits, with insufficient total sleep time. On examination, palatine tonsils were grade III. Nasofibroscopy has revealed adenoid remnants. Polysomnography has shown a reduced total sleep time, snoring, and obstructive apnea and hypopnea episodes (AHI = 7.4 events/ h), with a minimum O2 saturation = 74%. Neuroimaging, echocardiogram, and abdominal ultrasound were normal.

Resultados

As far as we know, this is the first description of Sleep-related Rhythmic Movement Disorder and NREM sleep parasomnias in patients with CS. A previous study demonstrated rhythmic tongue movements in four patients with CS. On the other hand, the presence of OSA already described in this group of patient and, in this case, could be explained by retrolingual airway obstruction, related to craniofacial alterations and palatine tonsil hyperplasia, causing reduction of posterior respiratory space.

Conclusões

We present a patient with CS with different sleep disorders (Obstructive Sleep Apnea, Sleep-related Rhythmic Movement Disorder, and NREM sleep parasomnias), highlighting the need for a detailed assessment of sleep disorders in CS patients.

Palavras-chave

Costello Syndrome, sleep disorders, obstructive sleep apnea, sleep-related rhythmic movement disorder, parasomnia