2. Presentation of a case A 16 yr old boy was brought by an NGO on 26 th November with a history of a)progressive bilateral painless visual loss since 11 th November 2007, initially involving the right eye, followed a few days later by the left eye that progressed to complete blindness,and b)recurrent & frequent partial motor seizures involving both eyelids & left face &upper limb without secondary generalisation from 18 thnovember (via doctor online ) http://www.doctorspring.com/
3. No h/o other focal neurological deficits No h/o bowel & bladder disturbances No h/o fever, vomiting,head ache No h/o systemic or local eye disease No h/o cough with expectoration http://www.doctorspring.com/
4. Past History : 8 months back he was found to have cervical lymphadenopathy, for which he received empirical ATT for 5 months. However, the patient was not compliant & did not have any medical records for review. He hailed from a village & had recently come to Bangalore for a better livelihood. http://www.doctorspring.com/
5. O/E: Pigmented nails + Multiple, hyperpigmented,non itchy &dry skin rashes over both legs &forearms. Pallor + B/L posterior cervical matted,mobile,non tender LAN. http://www.doctorspring.com/
6. CNS EXAMINATION Pt conscious , alert,oriented,co-operative. Bilaterally no perception of light. B/L pupil equal & reacting to light ; Accomodation reflex present B/L optic fundi normal . Frequent partial seizures involving eyelids & occasionally spreading to the left side of the face & upper extremity. No other motor/sensory deficits were noted. B/L plantar flexor. No neck stiffness. http://www.doctorspring.com/
7. Doctor consultation After admission, seizures remained poorly controlled inspite of multiple AEDs. During his stay in the hospital, postural instability & mild ataxia of the gait was noted. Examination of other systems was unremarkable. --------------------------------- Medical questions here http://www.doctorspring.com/
8. Course in the hospital: He received ATT,parenteral sodium valproate,phenytoin,phenobarbitone &preterminallylevetiracetam,pentoxyphylline & systemic antibiotics. However,he gradually deteriorated & seizures remained poorly controlled in spite of multiple AED s. He succumbed to his illness, after 12 days of hospitalization on 8th December. http://www.doctorspring.com/
11. PERIPHERAL SMEAR: normocytic to microcyticanamia & mild eosinophilia URINALYSIS: Normal URINE CULTURE:No growth BLOOD CULTURE: No growth MANTOUX TEST: Negative HIV POSITIVE CHEST X RAY : Normal SPUTUM AFB : Negative http://www.doctorspring.com/
12. FNAC REPORT NON SPECIFIC REACTIVE HYPERPLASIA http://www.doctorspring.com/
14. EEG 27 Nov : Bilateral , right > left posterior slowing with absence of α activity. There were no periodic complexes. 2 Dec , when his sensorium had deteriorated: showed more slowing & generalisedepileptogenic activity which partially responded to intravenous lorazepam. -------------------- http://www.doctorspring.com/
15. NEUROIMAGING: MRI brain (29 Nov): Bilateral R>L occipitoparietalT2W & FLAIR hyperintensew lesion predominantly involving the white matter but also the gray matter in the Rt occipital area CT brain(2 Dec): illdefined bilateral R>L occipitoparietalinterdigitatinghypodense lesions with effacement of adjacent sulci & no post contrast enhancement Ref: www.mayoclinc.com http://www.doctorspring.com/
16. Figure 2: (a– e) : CT scan (2nd December showing ill-defined bilateral right more than left occipitoparietalinterdigitatinghypodense lesions with effacement of adjacent sulci and no postcontrast enhancement. (e, f) MRI (29th November shows bilateral right more than left occipitoparietal T2W and FLAIR hyperintense lesions predominantly involving the white matter but also the gray matter in the right occipital area http://www.doctorspring.com/
17. The crux of this patient's overall illness is a fatal neurological disease associated with cortical blindness, focal motor seizures and mild ataxia associated with pigmented nails, multiple hyperpigmentednonitchy and dry skin rashes over both legs and forearms, anemia, and bilateral posterior cervical matted mobile and nontenderlymphadenopathy. (Case from online doctor consultation ) As far as the neurological problem is concerned, we are dealing with a 16-year-old male from a rural background with an acute to subacute onset of an illness without fever, headache, or vomiting but associated with cortical blindness, left focal motor seizures progressing to epilepsiapartialis continua (EPC), mild ataxia, and a fulminant progression to death in 4 weeks from the onset of illness. http://www.doctorspring.com/
18. DIFFERENTIAL DIAGNOSIS: 1 . Acute encephalitic syndromes: viral, bacterial or other pathogens - HIV related opportunistic infections like Toxoplasmosis, C ryptococcosis, Mycobacterium tuberculosis, CMV 2. HIV encephalopathy 3. Progressive multifocal leucoencephalopathy 4. Primary CNS lymphoma 5. Acute disseminated encephalomyelitis(ADEM) 6. Angiotropic B cell lymphoma 7. Acute fulminant SSPE 8. Subacute measles encephalitis ( SME)/ Measles inclusion body encephalitis (MIBE) 9. Heidenhein’s variant of CJD http://www.doctorspring.com/
