Abstract Details

Title Neurological Manifestations In Adults With Neurofibromatosis Type I

Topic Neuro-oncology

Presentation(s) Neuro-oncology Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 014

Objective Retrospective analysis of neurological manifestations in adults with neurofibromatosis type I

Background Neurofibromatosis type I [NF1], is a common human genetic disease, with an incidence of about 1 in 2500-3300. Autosomal dominant inheritance, with incomplete penetrance and wide Neurological phenotypic variability. the neurofibromatosis clinic at the University of Florida, is a specialized tertiary care clinic evaluating adults and children.

Design/Methods We have performed retrospective data analysis of the electronic medical chart on 200 patients with neurofibromatosis type I. There were 152 adult patients, and 48 pediatric patients.

Results Neurofibromatosis type I is a genetic disease, with a wide range of neurological phenotype. In order to evaluate the viability of phenotype, we studied neurological manifestations in adulthood in patients with NF1. Evaluated 200 patient's charts, that included 152 adult patients, above the age of 18, and 48 children. This included a multidisciplinary clinical and radiological investigation. One or more neurological manifestations were observed, in about 45 % of patients–adults and children, and equals 89. These included: headaches [32 ], epilepsy [6 ], moyamoya syndrome and stroke [5 ], intraspinal neurofibroma [6 ], trigeminal neuralgia [3 ], polyneuropathy [10 ]. Several tumors were included, optic pathway tumors [10 ], meningioma [1], gliomatosis cerebri [3], malignant peripheral nerve sheath tumors [7].

Conclusions Adults with neurofibromatosis type I, have a large phenotypic neurological variability The highest neurological morbidity among our clinical patient sample, is malignant peripheral nerve sheath tumors with neuropathic pain and moyamoya syndrome associated intracerebral hemorrhages . This retrospective study, helps general neurologists to appreciate the different neurological manifestations can present an adults. Referral to a specialized clinic in NF is important as we have increasing experience to diagnose multiple neurological complications seen in neurofibromatosis type I. This current study, is a basis of our newly implemented ongoing prospective study evaluating neurological morbidity and mortality and adults with NF1.

Authors/Disclosures
Hans H. Shuhaiber, MD PRESENTER	The institution of Dr. Shuhaiber has received research support from SPRINGWORKS . The institution of Dr. Shuhaiber has received research support from RECURSION . The institution of Dr. Shuhaiber has received research support from AstraZeneca. The institution of Dr. Shuhaiber has received research support from CTF. The institution of Dr. Shuhaiber has received research support from NFLECTION .

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