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-
â II to VIII â normal
â IX, X- soft palate movement decreased , gag
++, cough +
â XI- SCM, trapezius b/l normal
â XII- atrophy +, fasciculations+
7. ⢠Motor system
â Nutrition- wasting of the thenar and hypothenar muscles
of both hands
â Patient sitting in bed with elbows flexed and wrist palmar
flexed
â fasciculations seen over both upper limbs, poly mini
myoclonus+
â Tone - spasticity in BL LL > UL
â 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
â Reflexes-
⢠DTR- brisk in all 4 limbs
⢠Sup-Abdominal, Cremasteric- absent, Plantar - both extensor
8. ⢠No sensory deficits. Rhombergâs ânegative
⢠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-
â Paraneoplastic syndrome
â Heavy metal poisoning
â Paraproteinemia
â Metabolic
â HIV associated MND
⢠Pure motor polyradiculopathy
12. ⢠X-ray chest- NAD
⢠CSF-WNL
â Routine/microscopy- no cells
â Prot- 28mg% Sugar- 81.8mg%
â Gm stain â no PC, no org, no growth
â Cryptococcus- not seen, no growth
â Culture â no growth
⢠EMG/NCV- s/o generalized anterior horn cell disease
â Spontaneous Fibrillation, as well as polymorphic fasciculation in all
groups of muscles
â Sensory nerve conduction findings normal
â 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-
â Continue HAART
â T. Riluzole (50mg) BD
â T. Baclofen (10mg) TDS
â IV Vit B12/ Folate supplements
â 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-Sachâs 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 â may prolong life
17. References-
1. Moulignier A, Moulonguet A, Pialoux G, et al. Reversible ALS-like
disorder in HIV infection. Neurology 2001;57:995â1001
2. Reversal of HIV-associated motor neuron syndrome after highly
active antiretroviral therapy. J Neurol 2001;248:233â4.
3. Jubelt B, Berger JR. Does viral disease underlie ALS? Lessons from
the AIDS pandemic. Neurology 2001;57:945â6.
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.