Novel Structures Observed in the Brain of a Patient with Amyotrophic Lateral Sclerosis
Likun Wang1, Xinmei Luo2, and Guofeng Wu1*
1Department of Neurology, Affiliated Hospital of Guizhou Medical University, China
2Department of Geriatric medicine, Affiliated Hospital of Guizhou Medical University, China
Submission: July 18, 2017; Published: September 22, 2017
*Corresponding author: Guofeng Wu, Department of Neurology, Affiliated Hospital of Guizhou Medical University, No. 28, Guiyijie Road, Liuguangmen, Guiyang City, Guizhou Province, PRC, Postal code 550004, China, Tel: + 86-138-9431-723; Fax:+ 86-0851-6850-684; Email: wuguofeng3013@sina.com
How to cite this article: Likun W, Xingmei L, Guofeng W. Novel Structures Observed in the Brain of a Patient with Amyotrophic Lateral Sclerosis. Open Access J Neurol Neurosurg. 2017; 6(2): 555681. DOI: 10.19080/OAJNN.2017.06.555681
Background
Amyotrophic lateral sclerosis (ALS) is the most common and most severe form of the motor neuron disease [1]. Patients with ALS progressively lose their ability to control voluntary movements and occasionally enter the totally locked-in state, in which they cannot move any part of their bodies including the eyes [2]. Electron microscope examination performedin ALS mice showed disorganized mitochondrial cristae and degenerating mitochondria in endothelial cells, astrocytes and motor neurons and extensive extracellular edema [3]. However, the brain ultrastructure of patients with ALS have poorly been reported [4,5]. Here, we reported a case of ALS patient with novel structures in his brain.
Clinical Report
A 23 years old man progressively developed four limbs weakness and atrophy for 2 years, dysarthria and choking for 1 year and breathing difficult, urinary difficulty for 1 month. It seems response to steriods for a while. The symptoms progress after stop taking steriods. Neurological examination found an increased muscle tone and decreased muscle strength of the four limbs, hyperreflexia and bilateral babinskin sign positive, muscle atrophy of lower limbs. A magnetic resonance imaging showed diffused lesion in cortical spinal tracts (Figure1A). DTI showed that the fibers in the internal capsule are decreased significantly or interrupted completely. EMG showed diffused neurogenic lesion of four limbs, the sternocleidomastoid muscle was involved. Abnormalities were not found in the blood routine, kidney and liver function, blood electrolyte, serum enzymology. The related gene for SOD1 mutation inspection was normal. A biopsy of the abnormal brain tissues were performed based on the abnormal signals on magnetic resonance images, and the informed consent was obtained from his legally authorized representative. The results displayed abnormal structures in the cytoplasma of the neuron (Figure1B-1D). Three years after onset of the symptoms, the young man developed completely paralyzed, bedridden, and pseudobulbar paralysis. Finally, he died of severe pulmonary infection.
Discussion
This is an interesting case. The man is quite young, so one needs to think about a hereditary disorder, like an SOD1 mutation. If there are other symptoms one needs to think about a number of syndromes, including tau mutations in the presence of dementia, etc. However, the man did not show any symptoms but decreased motor function. SOD1 mutation gene inspection was normal. From the clinical and imaging perspective5, people could make the diagnosis of the ALS. In the ultrastructural studies, there are membrane bound and not membrane bound accumulation of fibrillary material, as well as spheroid bodies. Mitochondria are swollen, sometimes with vacuoles inside. This demonstrates that the cells are undergoing a process of degeneration. Such changes are seen in different cell types in SOD1 mutations, including in muscle in transgenic animals. At electron microscopy, some features may let us think about metachromatic leukodystrophy, especially the stacked myelin aggregates. In metachromatic leudodystrophy people would expect lipid filled macrophages, granular myelin debris and reactive astrocytes. As far as someone can judge from the selection of MRI picture, the signal alteration is really along the cortico-spinal tract, not within the white matter, as some people would expect in metachromoatic leukodystrophy..
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