Bibliographic Details
| Title: |
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 |
| Authors: |
Ebtesam Al-Enezi, Mohannad Alghamdi, Khaled Al-Enezi, Mohammed AlBalwi, William Davies, Wafaa Eyaid |
| Source: |
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024) |
| Publisher Information: |
BMC, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Medicine |
| Subject Terms: |
ADNP gene, Case report, Facial dysmorphism, Helsmoortel-Van der Aa syndrome, Neurodevelopmental disorder, Medicine |
| More Details: |
Abstract 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 intellectual disability, 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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1752-1947 |
| Relation: |
https://doaj.org/toc/1752-1947 |
| DOI: |
10.1186/s13256-024-04746-2 |
| Access URL: |
https://doaj.org/article/4391b1ee20994c5dbbc096c1d8e63eee |
| Accession Number: |
edsdoj.4391b1ee20994c5dbbc096c1d8e63eee |
| Database: |
Directory of Open Access Journals |
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