|Year : 2020 | Volume
| Issue : 15 | Page : 36-38
Myasthenia gravis-like symptoms in an adolescent with amyotrophic lateral sclerosis
Uduak Offiong1, Peter Alabi2
1 Department of Paediatrics, University of Abuja Teaching Hospital, Gwagwalada, Nigeria
2 Department of Internal Medicine, University of Abuja Teaching Hospital, Gwagwalada, Nigeria
|Date of Submission||02-Aug-2017|
|Date of Acceptance||18-Nov-2019|
|Date of Web Publication||11-May-2020|
Dr. Uduak Offiong
Department of Paediatrics, University of Abuja Teaching Hospital, Gwagwalada
Source of Support: None, Conflict of Interest: None
Juvenile onset amyotrophic lateral sclerosis (JALS) is a rare form of motor neuron disease. The symptoms of upper and lower motor neuron degeneration manifest before 25 years of age. Juvenile ALS is more frequently familial in nature though sporadic forms have been found to occur. Myasthenia gravis (MG) also a neuromuscular disorder shares some common features with ALS. There have been reports of atypical forms of juvenile ALS; however, the occurrence with MG in the same patient is a rare. Here is presented a 13-year-old male child with a history and clinical feature of JALS coexisting with MG symptomatology.
Keywords: Amyotrophic lateral sclerosis, fasciculation, juvenile, myasthenia gravis
|How to cite this article:|
Offiong U, Alabi P. Myasthenia gravis-like symptoms in an adolescent with amyotrophic lateral sclerosis. N Niger J Clin Res 2020;9:36-8
| Introduction|| |
Amyotrophic lateral sclerosis (ALS), also known as Charcot's disease or Lou Gehrig's disease, is a motor neuron disease which involves progressive degeneration and death of motor neurons of the cerebral cortex, brain stem, and spinal cord. The characteristic symptoms include weakness, muscle stiffness, and twitching. Other symptoms, such as slurred speech and dysphagia, occur as a result of the weakness of the muscle of the oropharynx.
The juvenile form of this disease (JALS) is rare, with symptoms appearing before 25 years of age. The prevalence and incidence are unknown, but there is no ethnic preponderance of the disease. There are several genetic forms of the diseases which determine the pattern of inheritance. Sporadic forms are associated with SPG11 and FUS.
A thorough history and clinical examination are key to diagnosis. The El Escoria criteria used in patients <25 years can eliminate JALS from other differential diagnosis.
The coexistence of myasthenia gravis (MG) like symptoms has been reported in patients with adult-onset ALS. There are also reports of patients with MG symptomatology and symptoms compatible with the revised El Escorial criteria for ALS. Published literature was not found on JALS with MG symptomatology.
| Case Report|| |
D. O. a 14-year-old male child presented to the pediatric neurology clinic with a 4 year history of the inability to use both upper and lower limbs, a 2-year history of slurred speech and drooling of saliva. The inability to write due to poor pen grip was the first symptom and was followed a few weeks later by difficulty in raising his arms above his head. The symptoms progressed to difficulty in walking with the need to rest, to his inability to walk any significant distance without falling. His arms became increasingly stiff and bent and within 2 years, he became unable to walk without support. However he was able to carry on some function of daily living for a few hours in the morning. There was no unsteady gait, headaches, blurred vision, or convulsions.
Within 2 years of the onset of the disease, his speech became increasingly difficult to hear by mid-day and he would be unable to close his mouth properly or swallow saliva and began drooling. His had fasciculation of the tongue and tremors of hands when outstretched. There was neither difficulty in keeping his eyes open nor was he incontinent of urine or feces.
He is the only male child in the family. No similar symptoms in other family members.
Examination revealed a young boy brought in a wheelchair with a cheerful affect, drooling saliva. He appeared well nourished. He was able to take the few steps to the examination couch with support. There was no facial asymmetry. His speech was low pitched. His intelligence was assessed to be normal.
There was mark spasticity of the neck muscles, wasting of the hypothenar muscles of both hands and fine tremors of the hands were observed.
There was marked spasticity of both upper limbs and tenderness on attempts at passive extension. He had contracture of both wrists. Tone in the lower limbs was increased, reflexes were increased, and Babinski was positive.
Power was at least 3 in both upper and lower limbs. There was weakness of the facial muscles, fasciculation of the tongue and marked weakness of the gag reflex.
By the end of the examination, he was unable to move or make audible sounds.
An initial diagnosis of a neuromuscular disease, JALS was made with the differential of atypical MG.
A magnetic resonance imaging of the brain showed no abnormality. His father could not afford further investigations, nor was he able to take more time off work, thus the patient was lost to follow-up. However, in a recent phone conversation with the father, there were neither improvements nor new symptoms.
| Discussion|| |
JALS is a rare disease. The incidence and prevalence are not known. The age of onset is usually before 25 years with age ranging 3–20 years. Rabin et al. showed a range of onset between 1–24 years. Symptoms in this patient began at 10 years old. The diagnosis of ALS is based on clinical criteria.,,, The symptoms of muscle weakness, spasticity, fasciculation, and muscle wasting seen in this patient give a strong indication of ALS. Using the El Escorial diagnostic criteria for ALS, he would be categorized as possible ALS as he had signs of upper and lower motor neuron disorders in two regions, bulbar and thoracic.
The fluctuating nature of the patient's signs of muscle weakness and speech quality would suggest the presence of myasthenia-like symptomatology. The occurrence of myasthenia-like symptoms has been described in patients diagnosed with ALS. Mulder et al. presented four patients with ALS as primary disease who had some myasthenia-like features, which, like our patient, was muscle fatigue after brief exertion. In their study, the use of Edrophonium caused improvement in muscle strength. This patient did not benefit from neither Edrophonium nor electromyography due to the lack of the equipment in our facility and vicinity. His history of improved activity levels after rest does suggest myasthenia-like symptoms. The improvement observed by Mulder et al. led them to suggest that the abnormalities of the lower motor neuron may result in itself cause defects of neuromuscular transmission. ALS symptomatology appearing in patients diagnosed with MG have been reported., Unlike the patients with ALS as the primary diagnosis, those with MG as their primary diagnosis presented with classic symptoms of MG.
Muscle wasting was limited to the hands in this patient. Weight loss or muscular atrophy is common signs in patients with JALS and is seen to appear early in the disease. The reverse is the case in MG, as there is no atrophy of muscles in disorder.
In the above studies, all the patients had adult-onset disease. Our patient by contrast was 10 years when his symptoms started. There has been no documentation of myasthenia-like syndromes in JALS though there have been reports of unusual presentations of the disease.,
Disease progression was such that within 3 years, he was wheelchair-bound. This rapid progression was seen in two patients reported by Zou et al. who had mutations on the FUS and SOD1 genes, which are associated with sporadic forms of the disease. Unlike Zou's patients, who died early, our patient was alive approximately 60 months after the onset of the disease.
There are difficulties in managing patients with rare genetic syndromes in a developing nation. With the absence of appropriate diagnostic facilities, such families resort to alternative forms of care and the medical community losses the learning opportunities such patients present. Although his clinical signs suggested JALS, we could not determine the genetic pattern and thus advice parents on long-term management.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
We would like to acknowledge the family of the patient who gave us this rare opportunity.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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