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A 33 year old right handed male injection drug user presented with a 4 week history of progressive shoulder and upper arm weakness and difficulty in speaking, together with a 2 week history of fever and a productive cough. He had been HIV-1 antibody positive for 16 years, had no AIDS defining illness, and was on no antiretroviral therapy. The CD4 count was 110 cells ×106/l and viral load was 56 000 copies/ml. There was no past history of, nor had the patient recently been vaccinated against, poliomyelitis; the patient was HB anticore and hepatitis C antibody positive. There was no family history of neurological disease.
On examination there were signs of a right basal pneumonia; general examination was otherwise normal. Neurological examination showed he was alert and orientated, dysarthric, and had bilateral facial weakness worse on the left; the palate deviated to the right and there were fasciculations of the tongue, which was not wasted. Neck flexion was weak. The other cranial nerves were normal. In the limbs tone and sensation were normal. In the arms power (MRC grade) was 2/5 in the shoulders, 4−/5 in the elbows and wrists/fingers. In the legs power was 4−/5 globally. Reflexes were absent in the left biceps, triceps, and supinator but otherwise they were intact; plantar reflexes were flexor.
Blood cultures grew Streptococcus pneumoniae; with broad spectrum antibiotics the patient recovered from the pneumonia. An electromyogram showed widespread denervation in all muscle groups tested (left masseter, right sternomastoid, deltoid, biceps, first dorsal interosseous, vastus medialis, and tibialis anterior). Nerve conduction studies revealed a mild sensory neuropathy. There was no evidence of multifocal motor neuropathy with conduction block. Tests were performed in order to exclude secondary causes of a lower motor neuron syndrome, other than HIV itself. These gave normal results for urea and electrolytes, liver function tests, calcium and phosphate, random blood glucose, CPK, thyroid function tests, serum electrophoresis (polyclonal gammaglobulinaemia only), serum B12, and RBC folate. Negative results were obtained for serum lead, TPHA, rheumatoid latex, ANA, ANCA and autoantibody screen, acetylcholine receptor antibodies, anti-ganglioside antibodies, anti-neuronal nuclear antibody type 1 and anti-Purkinje cell cytoplasmic antibody type 1 antibodies, HTLV-1 and HTLV-2 antibodies, and Lyme serology. Magnetic resonance imaging of the head, corticomedullary junction and cervical spine, with and without contrast, was normal. The patient declined further investigation and antiretroviral therapy. He deteriorated and died 3 weeks later. Necropsy was not performed.
Moulignier et al described six HIV infected patients who presented with a rapidly progressive disorder resembling amyotrophic lateral sclerosis (ALS); all patients showed neurological improvement with antiretroviral therapy.1 These cases had a mixture of upper and lower motor neuron signs, unlike this case, which had only lower motor neuron signs, resembling the progressive muscular atrophy variant of ALS.2 This presentation has previously been reported in an HIV infected patient who improved with antiretroviral therapy.3
HIV is therefore in the differential diagnosis of patients presenting with a motor neuron disease-like syndrome, in addition to those previously described—including cervical spondylosis, hyperthyroidism and hypothyroidism, heavy metal poisoning, and multifocal motor neuropathy with block. In the general population a viral aetiology for motor neuron disease has been suggested.4 Reports of clinical improvement in response to highly active antiretroviral therapy, concomitant with suppression of viral load, and increases in CD4 counts lend support to the hypothesis of HIV as an aetiological agent for this presentation.1,3,5
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