Case report
Our report concerns a male patient with profound AS who presents with
severe motor and intellectual disabilities. At the time of intervention,
the patient was 19 years old with a height of 153 cm and a weight of
28.8 kg. His perinatal history was 40 weeks and 3 days in utero ,
vaginal delivery, and an Apgar score of 7/9. At 13 months old, AS was
suspected due to abnormal limb movements, sleep disorder, and seizures.
A diagnosis of AS due to 15q11.2–q13 deletion was confirmed by
fluorescence in situ hybridization (FISH). At 1 year and 10
months old, he was hospitalized for convulsive status epilepticus,
managed with two antiepileptic drugs. He had recurrent tonic seizures
and was treated with three antiepileptic drugs at 6 years and 1 month
old. He was hospitalized again at the age of 6 years and 9 months, there
diagnosed as a non-convulsive status epilepticus. His last
hospitalization due to a seizure was at age 12, although his seizures
remain poorly managed. His scoliosis worsened from age 13 and is now
severe.
He is unable to sit and is bedridden. Despite being able to smile, he
lacks significant vocalization and is currently unable to communicate
nonverbally. He requires assistance in all aspects of daily life. He has
experienced episodes of aspiration pneumonia every six months from 16
years old; an episode at 17 years old required ventilator management.
From age 18, the frequency of aspiration pneumonia increased to more
than once every two months. We first tried nonsurgical treatment,
including a nasogastric tube and prohibition of oral intake, but were
unable to prevent the onset of aspiration pneumonia. Reduced thoracic
mobility due to severe scoliosis may contribute to repeated aspiration
pneumonia. We decided to perform LTS at 19 years old. We considered
performing a gastrostomy at the same time but, since almost the entire
gastric body lies in the left thoracic cavity, we concluded that a
successful gastrostomy would be anatomically difficult. After LTS, our
patient was able to wean off tube-feeding through an elemental diet tube
and is now living at home with oral intake. One year post-surgery, he
has not been re-hospitalized for aspiration pneumonia. Due to the
extreme severity of his AS symptoms, microarray-based comparative
genomic hybridization (aCGH) was performed at age 19, revealing a very
large deletion (19.3 Mb) at 15q11.2–q14. A 5–7 Mb deletion is common
in AS [2]. Methylation analysis showed abnormalities and is used to
know the parental origin of a deletion.