Copy of Copy of An unusual case of seizure disorder 2.pptx

A case of refractory seizures diagnosed to be neurofibromatosis

1. An unusual case of seizures Presented By- Dr. Shubhangi Padamwar JR-1 DNB MEDICINE Guided by- Dr. Ravindra Somani sir Dr. Sahil Kulkarni sir

2. A 45 yrs old male named X farmer by occupation, resident of Mungusgaon b/b relatives to casualty, saideep healthacare and research institute with c/o- 1) Aphasia for few minutes 2) uprolling of eyes 3) giddiness 4) palpitations 5) restlessness ……since half hour, sudden in onset

3. Past history- H/O loss of vision in right eye 20 yrs back. right eye ophthalmoplegia+ H/O cervical spine surgery 15 yrs back. H/O episodes of altered consciousness (2-3 months back, no treatment received) Family history- h/o neurological illness + details about illess were not available.

4. Pedigree chart AD

5. General Examination Temp- 97.2F     PR-92/MIN      BP- 150/100 mm of HG        RR-20 /MIN       SPO2-98% ON RA Pallor-Not present       Oedema -Not present          Lymph Node-No Swelling Icterus -Not present               Cynosis -Not present Right eye- atrophic No skin lesions Signs of vitamin deficiency absent

6. Systemic Examination Conscious, disoriented to time, place Higher function examination -normal Cranial nerve examination-normal Motor examination- Power-5/5 in all four extrimities, Deep and superficial reflexes normal Sensory examination- normal All other systemic examination- normal 1) CNS

7. CT scan brain was done suggestive of- Dystrophic calcification Left frontal mass

8. Mass abutting right falx

9. MRI brain with contrast was done after normal serum creatinine report…..

10. En’plaque meningioma Left frontal hyperdense mass

11. Hyperdense calcified mass abutting dura and falx

12. Calcified right optic nerve, Tentorial enhancement

13. Disruption of BBB around rights optic nerve

14. MRI BRAIN s/o… Multiple varying sized extra-axial enhancing lesions in supra as well as infratenctorial compartments are likely suggestive of meningiomas. The largest lesion is noted surrounding left frontal convexity with resultant mass effect, brain edema as noted. One of the anteriorly placed plaque like lesion is noted on either side of anterior most portion of the superior sagittal sinus with resultant obliteration of the same. Plaque like enhancement along the anterior interhemisperic fissure is consistent with en-plaque- meningioma. Altered signal intensity lesion along intra-orbital and intracanalicular segments of right optic nerve could be optic nerve sheath meningioma. Focal enhancing lesions along intracanalicular segments of bilateral 7 th /8 th nerve complexes could be vestibular schwannomas.

15. NEUROFIBROMATOSIS TYPE 2 AD family history Examination finding MRI BRAIN WITH CONTRAST features

16. WHAT IS NF-2 Neurofibromatosis type 2 is a multiple neoplasia syndrome that results from a mutation in the  NF2   tumour suppressor gene merlin or schwannomin on chromosome 22q12. The disorder occurs in one in 25 000 livebirths and is inherited as an autosomal dominant trait. It has wide phenotypic variability and nearly 100% penetrance by 60 years of age.  Improvements in diagnosis and treatment have led to a rise in the diagnostic prevalence from one in 210 000 in 1992, to one in 100 000 people in 2005.

17. CLINICAL FEATURES Patients are predisposed to development of lesions of the nervous system, eyes, and skin. Bilateral vestibular nerve schwannomas are the distinctive feature of neurofibromatosis type 2, but affected people can develop schwannomas in other cranial, spinal, and peripheral nerves. Other nervous system tumours associated with the disorder include meningiomas, ependymomas, astrocytomas, and rarely, neurofibromas. Peripheral neuropathies can develop independently of compressive tumours. Ocular abnormal findings include cataracts, epiretinal membranes, and retinal hamartomas. Cutaneous tumours—usually schwannomas—are a frequent finding .

18. Radiographic features Meningioma schwannoma usually arise from the inferior vestibular division of the  vestibulocochlear nerve can also be from the facial nerve ependymoma : usually spinal intramedullary (not intracranial/ intraventricular )

19. The definitive diagnosis of NF2 is established genetically. Criteria have been developed for the clinical diagnosis, Findings are divided into those of "definite" and "probable" NF2 .

20. Patient populations at risk for neurofibromatosis type 2 First degree relative with neurofibromatosis type 2 (affected parent, sibling, or children) People younger than age 30 years with a unilateral vestibular schwannoma or meningiomas People with multiple spinal tumours (schwannomas, meningiomas) People with cutaneous schwannomas

21. Recommended intervals for screening children of an affected parent Ophthalmological examination yearly from infancy Neurological examination yearly from infancy Audiology with auditory brainstem evoked potentials yearly from infancy Presymptomatic genetic testing; one test from 10 years of age* Cranial MRI at 10–12 years of age* Spinal MRI at 10–12 years of age* (every 2–3 years)

22. Disease progression and survival Average age at symptom onset in neurofibromatosis type 2 is 20 years but diagnosis is delayed on average for 7 years.  Although the range of disease progression is highly variable, most patients are rendered deaf and many will eventually need wheelchair assistance. Early age at symptom onset and the presence of intracranial meningiomas at diagnosis—both cardinal markers of increased disease severity—are associated with a heightened risk of early mortality. In 1992, although mean actuarial survival in a 150-patient cohort was 62 years, more than 40% of these patients were expected to die by age 50 years .  Since that time, the 15-year mean actuarial survival from time of diagnosis has probably extended because of advances in treatment available at specialised centres and the recognition of mildly affected people with mosaic disease