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 »  Introduction
 »  Case Report
 »  Discussion
 »  References

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SHORT REPORTS
Year : 2003  |  Volume : 51  |  Issue : 3  |  Page : 413-414

Juvenile amyotrophic lateral sclerosis with unusual presentation: A case report


Department of Neurology, S. M. S. Medical College & Hospital, Jaipur - 302004

Correspondence Address:
7, Rajniketan, M. D. Road, Jaipur - 302004

  »  Abstract

A case of juvenile amyotrophic lateral sclerosis with wasting confined to the distal part of one lower limb and the proximal part of the contralateral upper limb is being presented. A brief review of the literature is carried out.

How to cite this article:
Panagariya A, Garg A, Sharma B. Juvenile amyotrophic lateral sclerosis with unusual presentation: A case report . Neurol India 2003;51:413-4


How to cite this URL:
Panagariya A, Garg A, Sharma B. Juvenile amyotrophic lateral sclerosis with unusual presentation: A case report . Neurol India [serial online] 2003 [cited 2019 Aug 26];51:413-4. Available from: http://www.neurologyindia.com/text.asp?2003/51/3/413/1192


   »   Introduction Top


Amyotrophic lateral sclerosis (ALS) is a form of motor neuron disease (MND) and it is characterized by clinical and pathological features of upper and lower motor neuron degeneration. Progressive upper and lower motor neuron signs are also seen in a group of juvenile onset motor neuron disorders with different clinical and genetic patterns. In general, the term juvenile ALS has been used for patients with onset of disease prior to age 25 and those having a prolonged survival.[1] There are reports on atypical forms of juvenile ALS, specially with deafness and it is known as the Madras pattern of MND. Other atypical forms of juvenile ALS like monomelic amyotrophy, involving one upper extremity and wasted leg syndrome restricted to one lower limb, have also been described from India. We report here a case of juvenile ALS with crossed wasting. Our literature search did not reveal a report of a similar case.

   »   Case Report Top

A 20-year-old male presented with history of wasting and weakness of the left leg followed by wasting and weakness of the right upper limb, shoulder and chest for the last 5 years. This was associated with history of twitching in the right chest muscles. No other family member suffered from a similar illness. On examination there was wasting of biceps, triceps, deltoid, trapezius and pectoralis muscles on the right side associated with wasting of the left peronei, tibialis anterior and posterior, gastronemius as well as extensor digitorum brevis muscles. The right upper arm circumference was 4 cm lesser than the left and the left leg circumference was 4 cm lesser than the right. Power was 4-/5 in the involved group of muscles. All the deep tendon reflexes were brisk except the left ankle, probably due to the contracture of tendo Achilles. Fasciculation was observed in the right shoulder and chest. There was no sensory deficit. Higher mental functions, cranial nerves and fundus examination were normal. Hematological, biochemical (including serum creatinine phosphokinase) and radiological examination was unremarkable. Electrophysiological studies revealed normal nerve conduction with high amplitude polyphasic motor unit potentials, fibrillation potentials, fasciculation and incomplete interference pattern suggesting neurogenic disorder.

   »   Discussion Top

ALS was first recognized by Jean Martin Charcot in 1869; he found upper motor neuron and lower motor neuron signs in the same patient.[2] About 90% of ALS cases are sporadic and 10% are familial.[3] There is marked clinical and genetic heterogeneity among familial and juvenile ALS. Although autosomal dominant inheritance patterns have been described[4] most cases of juvenile ALS are autosomal recessive. Family history was negative but the clinical features such as slowly progressive muscular weakness and wasting, fasciculation and neurogenic changes on electromyography were consistent with ALS.
In whatever part of the body muscular wasting begins, in most patients with ALS, it spreads to the other parts of the body and sooner or later becomes generalized. More than 80% of patients with ALS with arm onset have ipsilateral or contralateral leg symptoms at 60 months after onset.[5] On the other hand, about half the patients with progressive spinal muscular atrophy have a symmetric wasting of intrinsic hand muscles, slowly advancing to the more proximal parts of the arms, and less often still the proximal parts of the limbs are affected before the distal parts.[6] Thus the pattern of muscular atrophy in our patient differed from that of typical ALS or progressive spinal muscular atrophy in that it was confined to the distal part of one lower limb and the proximal part of the contralateral upper limb, shoulder and chest. Further wasting started from the lower limb, had associated upper motor signs and it was restricted to these sites even after 5 years duration. This type of motor neuron disease must be distinguished from multifocal motor neuropathy. The absence of a nerve conduction block on electrophysiological studies and the presence of neurogenic changes in our patient ruled out multifocal motor neuropathy. Marked asymmetry has also been observed previously in cases of ALS reported from Japan in which weakness and atrophy were restricted to one half of the body till death and the diagnosis was confirmed by histopathological studies.[7] The purpose of the presentation is to highlight one more pattern of young onset ALS, a variety of motor neuron disease. The disease is reported to be associated with prolonged survival.
 

  »   References Top

1.Ben Hamida M, Hentati F, Ben Hamida C. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Brain 1990;113:347-63.  Back to cited text no. 1  [PUBMED]  
2.Charcot JM, Joffroy A. Deux cas d'atrophie musculaire progressive avec des lésions de la substance gris et des faisceaux antéro-latéraux de la moelle épinière. Arch Physiol Norm Path 1869;2:54-367, 745-60.   Back to cited text no. 2    
3.Emery AEH, Holloway S. Familial motor neuron disease. In: Rowland LP, editor. Human motor neuron disease. Advances in neurology. New York: Raven Press; 1982. Vol. 36. pp. 139-47  Back to cited text no. 3    
4.Rabin BA, Griffin JW, Crain BJ. Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain 1999;122:1539-50.   Back to cited text no. 4    
5.Brooks BR, Shodis KA, Lewis DH, et al. Natural history of amyotrophic lateral sclerosis. Quantification of symptoms, signs, strength, and function. In: Serratrice J, Munsat TL, editors. Pathogenesis therapy of amyotrophic lateral sclerosis. Advances in neurology. Philadelphia: Lippincott-Raven; 1995. 68. pp. 163-84  Back to cited text no. 5    
6.Sasaki S, Iwata M. Atypical form of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 1999; 66:581-5.   Back to cited text no. 6  [PUBMED]  [FULLTEXT]
7.Mochizuki Y, Mizutani T, Takasu T. Amyotrophic lateral sclerosis with marked neurological asymmetry: clinicopathological study. Acta Neuropathol (Berl) 1995;90:44-50.  Back to cited text no. 7  [PUBMED]  

 

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