[P2-36] Clinical Features in Adulthood and Elderly ATR-X (Alpha-thalassemia X-linked Intellectual Disability) Syndrome: Report of Two Cases
ATR-X syndrome is characterized by profound developmental delay, mild alpha thalassemia, dysmorphic faces, gastrointestinal problems, genital and skeletal abnormalities. These symptoms result from mutations in the ATRX gene. Although the facial appearance is characteristic in childhood and leads to the diagnosis, many adult patients might remain to be diagnosed. And the clinical features in adulthood and elderly age are still unknown. We report here on clinical features in two adult cases with ATR-X syndrome.
Case 1: He was 60 years old who genetically diagnosed at 55 years old. Severe intellectual disability with the distinctive facial appearance included macroglossia, marked everted lip and hypotonic face, and gastrointestinal problems such as excessive drooling and regurgitation of food led to genetic diagnosis. He had been able to walk with assistance, before markedly disabled because of sudden cardiac arrest induced by pulmonary hypertensive crisis due to atrial septal defect at 55 years of age.
Case 2: He was 30 years old who genetically diagnosed at 18 years old. In addition to severe intellectual and motor disability with alpha thalassemia, facial features included upswept frontal hair line and tented upper lip, cryptorchidism and foot deformities such as pes varus led to genetic diagnosis. He needed nutritional management from infant included nasogastric and nasojejunal tube feeding because of dysphagia with gastro-esophageal reflux which was suspected of gastric pseudo-volvulus.
As our cases indicate, some patients with ATR-X syndrome need life-long and interdisciplinary health-care management, even though their life expectancy is assumed to be favourable.
Case 1: He was 60 years old who genetically diagnosed at 55 years old. Severe intellectual disability with the distinctive facial appearance included macroglossia, marked everted lip and hypotonic face, and gastrointestinal problems such as excessive drooling and regurgitation of food led to genetic diagnosis. He had been able to walk with assistance, before markedly disabled because of sudden cardiac arrest induced by pulmonary hypertensive crisis due to atrial septal defect at 55 years of age.
Case 2: He was 30 years old who genetically diagnosed at 18 years old. In addition to severe intellectual and motor disability with alpha thalassemia, facial features included upswept frontal hair line and tented upper lip, cryptorchidism and foot deformities such as pes varus led to genetic diagnosis. He needed nutritional management from infant included nasogastric and nasojejunal tube feeding because of dysphagia with gastro-esophageal reflux which was suspected of gastric pseudo-volvulus.
As our cases indicate, some patients with ATR-X syndrome need life-long and interdisciplinary health-care management, even though their life expectancy is assumed to be favourable.