An unusual case of seizure disorder 2.pptx

Seizures

1. An unusual case of seizures

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 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. I/V/O cervical spine surgery ?implants CT scan brain was done suggestive of-

8. Invstigations 1. CBC- WBC 9980 HB 14.8 PLT COUNT HCT N 84.7% L 7.7

9. MRI BRAIN was done next day 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 .

10. WHAT IS NF-2 Neurofibromatosis type 2 is a multiple neoplasia syndrome that results from a mutation in the  NF2   tumour suppressor gene 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.

11. 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 .

12. 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

13. 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

14. 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)