CK syndrome: a rare cause of developmental delay in a young boy
| Autor: | Anaita Udwadia Hegde, Rafat Sayed, Shilpa D Kulkarni, Meenal Garg |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
3-Hydroxysteroid Dehydrogenases Concentric hypertrophy Locus (genetics) Bioinformatics medicine.disease_cause Pathology and Forensic Medicine Epilepsy Intellectual Disability Medicine Humans Abnormalities Multiple Global developmental delay Genetics (clinical) Genetic testing Mutation medicine.diagnostic_test business.industry Genetic Diseases X-Linked General Medicine medicine.disease Phenotype Xq28 Pediatrics Perinatology and Child Health Anatomy business |
| Zdroj: | Clinical dysmorphology. 30(4) |
| ISSN: | 1473-5717 |
| Popis: | CK syndrome is a rare disorder caused by mutation in the NSDHL (NAD(P) dependent steroid dehydrogenase-like) gene at the Xq28 locus. It has expanded the spectrum of disorders associated with X-linked mental retardation and defects in sterol metabolism. There are only a few reports defining the phenotypic spectrum of this rare disorder. We describe a new patient from the Indian subcontinent who presented with dysmorphism, global developmental delay and epilepsy. We also add left ventricular concentric hypertrophy and sensory neuropathy, which have not been reported previously. Our report suggests that CK syndrome may be unrecognized due to limited clinical knowledge and restricted availability of genetic testing. The expansion of the phenotype may also lead to a better understanding of biochemical anomalies and management approaches. |
| Databáze: | OpenAIRE |
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