Severe Central Sleep Apnea in Vici Syndrome.
Vici syndrome is a rare congenital multisystem disorder due to recessive mutations in the key autophagy regulator EPG5. Vici syndrome is characterized by agenesis of the corpus callosum, hypopigmentation, immunodeficiency, cataracts, and cardiomyopathy, with variable additional multisystem involvement. Here we report on a 5-year-old girl who presented with global developmental delay, seizures, callosal agenesis, cataracts, sensorineural hearing loss, hypopigmentation, and immunodeficiency with a low CD4 count and recurrent infections. EPG5 sequencing (prompted by suggestive clinical features) revealed a homozygous missense mutation, c.1007A>G (p.Gln336Arg). The patient was referred to our center for evaluation of nocturnal apnea. Overnight polysomnography showed severe central sleep apnea (CSA) with an overall apnea-hypopnea index of 100.5 events per hour of sleep (central apnea index of 97.5, mixed apnea index of 2, and obstructive hypopnea index of 1). The patient responded to bilevel positive airway pressure therapy with a backup rate with normalization of the apnea-hypopnea index and maintenance of oxygen saturation >90%. Despite successful control of the severe CSA, the patient was eventually started on nocturnal oxygen therapy due to excessive upper airway secretions and the high risk of possible aspiration with positive airway pressure therapy. This is the first report of EPG5-related Vici syndrome associated with CSA. We discuss the polysomnographic findings in our patient in the context of a brief literature review of the reported sleep abnormalities in Vici syndrome.
Departments of Pulmonary, Critical Care, and Sleep Disorders Medicine and karim.elkersh@louisville.edu.
Karim
K
El-Kersh
Department of Paediatric Neurology and Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, and Department of Basic and Clinical Neuroscience Division, The Institute of Psychiatry, Psychology & Neuroscience, King's College, London, United Kingdom.
Heinz
H
Jungbluth
Children's Sleep Medicine, Evelina Children's Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom; and.
Paul
P
Gringras
Pediatrics, Division of Sleep Medicine, University of Louisville, Louisville, Kentucky;
Egambaram
E
Senthilvel
D061085:Agenesis of Corpus Callosum / Q000150:complications*; D002386:Cataract / Q000150:complications*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D012720:Severity of Illness Index; D020182:Sleep Apnea, Central / Q000209:etiology*