CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS

Authors

  • Ahmad Omair Virk Children’s Hospital Faisalabad Pakistan
  • Faisal Zafar Children’s Hospital Lahore Pakistan
  • Tipu Sultan Children’s Hospital Lahore Pakistan

Keywords:

Whole Exome Sequencing, Neuroimaging, Seizures, Intellectual disability, Consanguinity

Abstract

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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Published

19-04-2019

How to Cite

Virk, A. O., Zafar, F., & Sultan, T. (2019). CLINICO-RADIOLOGICAL FINDINGS AND GENETIC ANALYSIS OF CHILDREN WITH HEREDITARY NEUROLOGICAL DISORDERS. Pakistan Armed Forces Medical Journal, 69(2), 326–31. Retrieved from https://pafmj.org/PAFMJ/article/view/2748

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Original Articles

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