A study on Clinical and Radiological features of Neurocutaneous Syndromes.

Vijay, T (2013) A study on Clinical and Radiological features of Neurocutaneous Syndromes. Masters thesis, Madras Medical College, Chennai.


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Neurocutaneous syndromes are a group of genetically determined heterogeneous disorders that manifest with developmental abnormalities of the skin and the nervous system. These disorders are believed to originate from the faulty differentiation of primitive ectoderm. The two most common neurocutaneous syndromes are Neurofibromatosis and Tuberous sclerosis. Sturge Weber syndrome, Ataxia telangiectasia and Epidermal naevus syndrome also occur commonly. Most of the other neurocutaneous syndromes are rare. The cutaneous lesions usually appear at an early age and progress with time while neurological features usually manifest at a later age. The common neurological manifestations include learning disability, seizures, developmental delay and focal deficits but the expected neurological manifestation depends on the specific disease. Neuroimaging studies are helpful in the early diagnosis of neurological involvement. They also help to assess the extent of neurological involvement and to predict the prognosis. AIM OF THE STUDY : 1. To study the prevalence of various Neurocutaneous disorders. 2. To study the clinical manifestations of Neurocutaneous disorders. 3. To evaluate the incidence of neurological complications in patients with Neurocutaneous disorders. 4. To study the radiological features in Neurocutaneous disorders. CONCLUSION : 1. The most common Neurocutaneous syndrome observed in our study was Neurofibromatosis (66%) followed by Tuberous sclerosis (18%). 2. The most common neurological manifestation noted in our study was seizure. 3. Among the neurofibromatosis, NF I accounted for the maximum number of cases. Rare variants like NF5 and NF6 were also observed. 4. Most common cutaneous marker in our series was neurofibroma. 5. Learning disability, seizures, mental retardation and quadriparesis were the common neurological manifestations observed in neurofibromatosis. 6. The most common symptomatology in tuberous sclerosis was adenoma sebaceum. Intractable seizures was the most common neurological feature. 7. Among the imaging findings, unidentified bright objects (UBO) were the most common MRI finding in NF 1 and Cortical tuber and sub ependymal nodules were the common imaging findings in tuberous sclerosis.

Item Type: Thesis (Masters)
Uncontrolled Keywords: Neurocutaneous Syndromes ; Clinical and Radiological study.
Subjects: MEDICAL > Neurology
Depositing User: Kambaraman B
Date Deposited: 30 Jun 2017 02:38
Last Modified: 30 Jun 2017 05:31
URI: http://repository-tnmgrmu.ac.in/id/eprint/662

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