Rett-like Syndrome in a Pediatric Patient—A Challenging Diagnosis
| Autor: | Joana Nunes, Fátima Santos, Miguel Leão, Marta Mesquita, Marta Vila Real, Isabel Alonso, Sofia Simoes Ferreira |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty business.industry Stereotypic hand movements medicine.disease Hypotonia MECP2 Pediatric patient Pediatrics Perinatology and Child Health Intellectual disability Medicine In patient Autistic features Neurology (clinical) medicine.symptom business Exome sequencing |
| Zdroj: | Journal of Pediatric Neurology. 19:113-115 |
| ISSN: | 1875-9041 1304-2580 |
| Popis: | Neurodevelopmental disorders with features overlapping Rett's syndrome frequently remain unexplained in patients without disease-causing variants in MECP2. Variants in IQSEC2 frequently cause nonsyndromic X-linked intellectual disability (XLID), although de novo variants may cause a severe syndrome that resembles Rett and Angelman's syndrome. We report a 7-year-old girl presenting severe neurodevelopmental delay, stereotypic hand movements, hypotonia, autistic-like features, inappropriate laughing/screaming spells, and symmetrical hypomyelination. A whole exome sequencing detected a novel de novo heterozygous truncating variant within the IQSEC2 gene. Variants of IQSEC2 should be considered in patients with Rett–Angelman phenotype spectrum and autistic features when those causes were excluded. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|