Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report.

Autor: Al-Enezi E; Genetic and Metabolic Division, General Pediatric Department, Maternity and Children Hospital, Tabuk, Kingdom of Saudi Arabia. Dr.ebtesamal-enezi@hotmail.com., Alghamdi M; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia., Al-Enezi K; Cardiology Sciences Division, General Pediatric Department, Maternity and Children Hospital, King Abdulaziz Cardiac Centre, Tabuk, Kingdom of Saudi Arabia., AlBalwi M; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia.; Department of Medical Genomics, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia., Davies W; Division of Psychological Medicine and Clinical Neurosciences, Schools of Medicine and Psychology, Centre for Neuropsychiatric Genetics and Genomics, Neuroscience and Mental Health Innovation Institute, Cardiff University, Cardiff, UK., Eyaid W; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia.; Department of Medical Genomics, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.
Jazyk: angličtina
Zdroj: Journal of medical case reports [J Med Case Rep] 2024 Sep 05; Vol. 18 (1), pp. 422. Date of Electronic Publication: 2024 Sep 05.
DOI: 10.1186/s13256-024-04746-2
Abstrakt: Background: Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial dysmorphism, impaired development, and an increased predisposition to autism spectrum disorder. In addition, many patients also present with neuropsychiatric disorders, including attention deficit hyperactivity disorder, anxiety disorders, and various behavioral abnormalities. Helsmoortel-Van der Aa syndrome is challenging to identify solely on the basis of symptoms, and genetic investigations, including exome sequencing, may facilitate diagnosis.
Case Presentation: We report a case of 13-year-old Saudi patient who presented with dysmorphic features as illustrated in Fig. 1, severe mental retardation, autism spectrum disorder, and attention deficit hyperactivity disorder. Initial genetic testing was unremarkable; thus, a clinical exome analysis was performed to identify the genetic basis of the condition.
Conclusions: Clinical exome analysis indicated an autosomal dominant Helsmoortel-Van der Aa syndrome with a likely pathogenic de novo variant within the activity-dependent neuroprotector homeobox (ADNP) gene not previously reported in Helsmoortel-Van der Aa syndrome. The patient had a right-sided solitary kidney and polycystic ovaries, conditions that were not previously associated with HVDAS.
(© 2024. The Author(s).)
Databáze: MEDLINE
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