CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS
Objective: To determine the clinical profile, radiological findings and genetic analysis of children with inherited neurological disorders. Study Design: Cross sectional study. Duration and Place of Study: Department of Neurology, The Children’s Hospital Lahore, from March 2013 to September 20...
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| Autores principales: | , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Army Medical College Rawalpindi
2019
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/0502adf2e4404b74a36015f09a5c079e |
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| Sumario: | Objective: To determine the clinical profile, radiological findings and genetic analysis of children with inherited neurological disorders.
Study Design: Cross sectional study.
Duration and Place of Study: Department of Neurology, The Children’s Hospital Lahore, from March 2013 to September 2016.
Material and Methods: Ninety two patients upto 20 years of age were selected. Blood sample was taken from patients and both parents. Samples were tested for whole exome sequencing
Results: There were 51% males. Age ranged from 5 months to 20 years. A total of 55.4% patients had developmental delay and 44.5% had neuroregression. Hearing impairment was found in 7.6% patients while vision was affected in 11.9%. Speech was affected in 66.3% patients while 43.4% patients had seizures. Autistic spectrum of disorders were observed in 20.6% patients. Microcephaly was seen in 19.5% cases. Out of 60 families, 23 (38.3%) had more than one offspring affected. Upper motor neuron signs were present in 50% patients while 15.2% patients had lower motor neuron signs. Leukodystrophy was seen in 19.5% patients. Cerebellar atrophy was observed in 15.2% patients while 17.3% patients had cerebral atrophy. Neuroimaging was normal in 34
patients. On genetic analysis, 48.3% families had known gene mutation while 51.6% families had novel gene mutation.
Conclusion: Degenerative brain disorder (DBD) and Global developmental delay/intellectual disability (GDD/ ID) are entities with diverse clinical presentations. Whole exome sequencing is a helpful diagnostic tool. In addition to previously discovered genes, many novel genes have been identified. |
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