1. Interesting Case Presentation
Dr. Ankit Raiyani
Medicine Dept.
LTMMC & GH

2. History
42 yr male married R/O Matunga illiterate tailor
Presented with c/o
• Difficulty in holding small objects in right hand with loss of
dexterity, progressive over 6 months and in left UL since last 2
mths
• Difficulty in walking due to tightness in both LL progressive
over 6 mths
• Difficulty in speaking requiring more effort, more after talking
for long time, progressively worsening over 6 mths
• Twitching in both UL since 4 mths, in LL since 2 mths
• Difficulty in swallowing solids and liquids with nasal
regurgitation of liquids
• increased frequency of micturition a/w urgency since 2 mths

3. No complaints of
• Diplopia, blurring of vision
• Headache, loss of consciousness,
• Bowel, bladder incontinence
• Loose motions, vomiting, abdominal pain
• Tingling, numbness

4. Past history
• k/c/o sero positive status, on ART (ZLN) since
2008, CD4 count- 222 in march 2011
• H/O trauma to right knee at the age of 16 year.
Unable to bend his right knee since then
• Not a K/C/O diabetes, hypertension,
• No P/H/O tuberculosis
Personal history- Ex alcoholic, ex tobacco chewer
left since last 6 mths
Family history- no h/o such illness in family

5. Examination
• Patient conscious oriented avg
built, nourished
• P- 88/min reg, all pp well felt
• BP- 118/74 mm of Hg, supine
• No pallor, icterus, clubbing, LNpathy, edema
• Poor oral hygiene, no oral candidiasis, no
linear bluish discoloration of gums
• Skull, spine- NAD

6. CNS examination-
• Conscious oriented co-operative
• MMSE- 27/30, spastic dysarthria
• Cranial nerves-
– II to VIII – normal
– IX, X- soft palate movement decreased , gag
++, cough +
– XI- SCM, trapezius b/l normal
– XII- atrophy +, fasciculations+

7. • Motor system
– Nutrition- wasting of the thenar and hypothenar muscles
of both hands
– Patient sitting in bed with elbows flexed and wrist palmar
flexed
– fasciculations seen over both upper limbs, poly mini
myoclonus+
– Tone - spasticity in BL LL > UL
– Power-
• 3/5 in right UL, 4/5 in left UL,
• Wasting of thenar and hypothenar muscles, dorsal interossei , abd
digiti minimi on both hands Rt > Lt
– Reflexes-
• DTR- brisk in all 4 limbs
• Sup-Abdominal, Cremasteric- absent, Plantar - both extensor

8. • No sensory deficits. Rhomberg’s –negative
• No cerebellar signs
• Gait- spastic, scissoring
Other systems - NAD

9. • 35 year male with diffuse mixture of LMN and
UMN weakness in both UL and LL with
pseudobulbar palsy
• Clinical diagnosis- Motor Neuron Disease

10. Diff. diagnosis
• Motor neuron disease-
– Paraneoplastic syndrome
– Heavy metal poisoning
– Paraproteinemia
– Metabolic
– HIV associated MND
• Pure motor polyradiculopathy

11. Investigations
• Hb-12.1 gm%
• WBC- 5100cells/cmm
• DLC- P74/L24/M2
• Platelets- 182000/cmm
• MCV- 83 fl
• FBS- 94 mg%
• T. bili- 0.8 mg%
• AST/ALT- 23/28 U/L
• TP/Alb/Glob- 6.2/4.0/2.2 gm%
• Bun/ Sr creat- 12/0.8 mg%
• Na/K- 136/4.2 mmol/L
• Ca/PO4- 7.4/3.6 mmol/L
• Sr. TG/ Cholesterol- 104/ 158 mg%
• Urinary BJP- negative
• RBS- 93 mg%
• T3/T4/TSH- 3.11/1.03/4.02 pg/dl
• CD4- 222cells/µL
• Stool R/M - NAD

12. • X-ray chest- NAD
• CSF-WNL
– Routine/microscopy- no cells
– Prot- 28mg% Sugar- 81.8mg%
– Gm stain – no PC, no org, no growth
– Cryptococcus- not seen, no growth
– Culture – no growth
• EMG/NCV- s/o generalized anterior horn cell disease
– Spontaneous Fibrillation, as well as polymorphic fasciculation in all
groups of muscles
– Sensory nerve conduction findings normal
– No e/o an underlying generalized peripheral neuropathy
• MRI Brain with screening of Cx spine- no significant abnormality

13. • Diagnosis- HIV associated generalised Motor
Neuron Disease
• Treatment-
– Continue HAART
– T. Riluzole (50mg) BD
– T. Baclofen (10mg) TDS
– IV Vit B12/ Folate supplements
– Physiotherapy/ occupational therapy

14. HIV associated Motor neuron disease
• HIV infection has been associated with increased incidence
of ALS and other MND(1,2,3)
• Possible mechanisms- not completely understood
1. Retroviral myelopathy(4)
2. Through HERV- K reactivation(5,6)-
• HIV infection induces reactivation and replication of dormant Human
Endogenous Retro Virus-K10. (5)
• HERV-K has recently been implicated for pathogenesis of ALS though
exact mechanism is not established.HERV-K pol transcripts were
shown to be significantly increased in brain biopsy of patients with
ALS compared to those with chronic systemic illness. (6)
• Whole spectrum of MND ( UMN/LMN/Both) can be seen
in different cases
• Commonly involves patients not yet started on HAART

15. Diagnosis of exclusion
All other secondary causes of MND are to be ruled out
• Structural- Cx myelopathy
• Infections-tetanus, Lyme ds., poliomyelitis
• Toxins/drugs- lead, aluminum, phenytion, strychnin
• Immunologic- plasma cell dyscrasias, autoimmune
polyrediculoneuropathy
• Paraneoplastic
• Metabolic-
hyperthyroidism, hyperparathyroidism, B12/Folate def.
• Errors of metabolism- adult onset Tay-Sach’s ds, SOD1
mutation

16. Treatment
No specific treatment available
• HAART- if patient not on ART. Starting HAART
has shown neurological improvement with
decreasing viral load with antiretroviral
therapy. (1,2)
• Supportive measures
• Riluzole – may prolong life

17. References-
1. Moulignier A, Moulonguet A, Pialoux G, et al. Reversible ALS-like
disorder in HIV infection. Neurology 2001;57:995–1001
2. Reversal of HIV-associated motor neuron syndrome after highly
active antiretroviral therapy. J Neurol 2001;248:233–4.
3. Jubelt B, Berger JR. Does viral disease underlie ALS? Lessons from
the AIDS pandemic. Neurology 2001;57:945–6.
4. Modi G, Ranchhod J, Hari K, Mochan A, Modi M. Non-traumatic
myelopathy -the influence of HIV. QJM 2011 Aug;104(8):697-703
5. Garrison KE et al. T cell responses to human endogenous
retroviruses in HIV-1 infection. PLoS Pathog. 2007 Nov;3(11):e165.
6. Douville R, Liu J, Rothstein J, Nath A. Identification of active loci of
a human endogenous retrovirus in neurons of patients with
amyotrophic lateral sclerosis. Ann Neurol. 2011 Jan;69(1):141-51.
doi: 10.1002/ana.22149.