ICNC Abstracts, ICNC 2018

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TITLE: Spectrum of Neurocutaneous Disorders in Pediatric Neurology Clinic in Western Rajasthan
Ankit Manoj Panday

Last modified: 2018-09-09

Abstract


INTRODUCTION:Composite studies describing the relative frequency of Neurocutaneous disorders and their modes of presentation in pediatric neurology practice are sparse.Our aim was to determine the prevalence and the clinic epidemiological profile of various Neurocutaneous disorders and to provide exact genetic diagnosis and genetic counseling wherever possible.

METHODOLOGY:All children from 0-15 years attending the Pediatric Neurology clinic suspected for neurocutaneous disorders were included in the study. Investigations done were CT, MRI and EEG. Appropriate Genetic testing/diagnosis wherever feasible was done followed by genetic counselling.

RESULTS:A total of 56/902 6.2% (33M and 23F) cases were enrolled.The most common NCS observed was Tuberous sclerosis (34,60.7%) followed by NF 1 (7, 20.5%), Sturge Weber (7, 20.5%), Xeroderma Pigmentosa (3,5.3%) and 2 cases each of Ataxia Telangiectasia (3.5%) and Hypomelanosis of Ito (3.5%). The mean age of presentation was 2.46±2.70 years. Cutaneous markers were seen in 54(96.4%) cases followed by epilepsy in 40 (71.4%) cases.Prenatal counselling was done in 43(76.7%) and genetic diagnosis was done in 10 (17.8%) cases. Prenatal diagnosis was done in 2 cases of Tuberous sclerosis.

CONCLUSION: Neurocutaneous disorders are common and despite best efforts, many of these children do not access/ have access to specialised care.Despite Genetic Counselling, prenatal diagnosis and prevention is very low adding new patients with significant morbidity to this pool.There is urgent need to improve facilities for diagnosis and prenatal prevention of these disorders in India.

 

 


Keywords


Neurocutaneous disorders; Tuberous Sclerosis;Xeroderma Pigmentosa ; Prenatal Diagnosis;

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