A 59-year-old patient complained of difficulty sleeping for about a month.
He has weakness and pain in the lower limbs, which improves after stopping, sometimes accompanied by non-irradiated low back pain.
He has noticed changes in voice, which is more dysphonic, related to his work.
In the directed anamnesis, he did not report weakness in the hands or upper extremities.
There is no ocular, sphincter control or sensory disorder.
Emotional lability is not observed, although the patient already had an adaptive disorder after the death of his wife.
Located in twins.
His personal history included hypertension and type 2 diabetes.
Family history: deceased uncle with a diagnosis of amyotrophic lateral sclerosis (ALS).
Neurological examination revealed hypophonic, facial centered speech.
Internal and external ocular mobility was normal.
Lingual fasciculations.
No cervical weakness.
Motor: lower limbs (LLII): paraparesis with proximal predominance 4/5.
Dorsiflexion of both feet 5/5.
No weakness in the upper limbs was observed.
No sensory deficit.
Osteotendinous osteotendinous reflex (OTT) +++/+++ with bilateral positive Hoffmann and indifferent right cutaneous-plantar reflex, preserved left.
Fasciculations in deltoid, pectoral and diffusely in the lower limbs.
Muscular atrophy in both quadriceps.
General anodine.
An ankle-brachial index (ABI) was performed: right 1.18; left 1.29.
Laboratory tests were requested, highlighting CK 232, immunological study and normal serology.
Chest and lumbosacral radiography were normal.
After suspicion of motor neuron disease, the Internal Medicine Department was consulted, requesting electromyography (EMG) / electroneurography (ENG) suggestive of neurogenic pattern with positive right upper limb denervation.
These results led to Neurology.
After evaluation of the patient and diagnosis of probable ALS, according to the revised criteria of El Escorial, and pending completion of the study with cranial-medullary magnetic resonance imaging and new neurolophysiological study Riluzole treatment was initiated 12 hours.
Due to the clinical evolution of the patient with proximal paraparesis in the lower limbs, with significant muscular disorder of both thighs, dysphagia for solids, without involvement in upper limbs (MMSS) and correlated with last possible neurophysiological study.
The EMG suggests myopathy with bulbar and pelvic girdle involvement (myopathy by inclusion bodies), so muscle biopsy was performed, the results of the same being conclusive and secondary changes, discarding the possibility of voiding.
The patient subsequently developed symptoms, progressing weakness in the dorsal flexion of the left foot (4/5).
Early atrophy in the fifth interosseous space of the left hand.
Diffuse fasciculations by different body segments, as well as mild aphonia.
Finally, the diagnosis of probable ALS motor neuron disease is suggested.
Treatment with 50 mg Riluzole was continued. Physical and respiratory home rehabilitation was recommended as soon as possible.
Five months after the definitive diagnosis, the patient developed septic shock of urinary origin and subsequent complications, requiring invasive mechanical ventilation (tracheotomy), percutaneous gastrostomy feeding (PEG) and secondary adaptive disorder, being discharged
Two months later he died.
