Peroneal muscular atrophy with Poland syndrome

A 22-year-old male college student had a syndactyly between the second and third fingers of his left hand, which was congenitally small in size. His left pectoralis muscles were absent. He first walked at the age of 12 months, but soon developed difficulties in walking due to weakness of the legs. Atrophy and weakness of the legs aggravated gradually. He was diagnosed as having peroneal muscular atrophy and Poland syndrome, an association of which has not been reported before. A small number of similar cases of peroneal muscular atrophy with various skeletal abnormalities in the literature suggest that the association is not incidental, but of clinical significance.     

Chronic neurogenic quadriceps amyotrophies

Summary Two cases of quadriceps amyotrophy, probably of chronic neurogenic origin are reported. Only the knee jerks were diminished, the calves hypertrophic, and the serum creatine kinase level very high in one case, and there were neurogenic electromyographic abnormalities in the quadriceps. In the first case, biopsy of the quadriceps muscle revealed a neurogenic origin with hyalinized hypertrophic fibres. CT scan showed abnormalities not only in the quadriceps but also in the sartorius, gracilis and gastrocnemius muscles. A second biopsy specimen from the gastrocnemius muscle showed histological findings similar to those of the quadriceps. In the second case, the EMG and biopsy findings suggested a myogenic origin, but 6 years later they were compatible with neurogenic atrophy. Differentiation from Becker dystrophy is very difficult in the first case and the second case is more a focal spinal amyotrophy. Further, in spite of their localization, the extension of the affected muscles changes the diagnosis. The same applies to chronic quadriceps amyotrophy in general, which cannot be regarded as an entity, but which suggests muscular dystrophy, spinal atrophy, polymyositis or a metabolic disorder. These cases can be compared with the four cases reported in the literature, which were regarded as a forme fruste of chronic spinal amyotrophy.     

Bibrachial amyotrophy and ventral spinal cyst associated with myelomalacia and intracranial hypertension

It has been recently recognised that patients with ventral intraspinal fluid collections secondary to cerebrospinal fluid leaks can present with bibrachial amyotrophy or mimic Hirayama disease. Here we present two further patients that expand the clinical spectrum of this disorder to include association with myelomalacia and intracranial hypertension.     

Neurological manifestations of hepatitis E virus infection: An overview

Hepatitis E virus (HEV) is an important cause of repeated waterborne outbreaks of acute hepatitis. Recently, several extrahepatic manifestations (EHMs) have been described in patients with HEV infection. Of these, neurological disorders are the most common EHM associated with HEV. The involvement of both the peripheral nervous system and central nervous system can occur together or in isolation. Patients can present with normal liver function tests, which can often be misleading for physicians. There is a paucity of data on HEV-related neurological manifestations; and these data are mostly described as case reports and case series. In this review, we analyzed data of 163 reported cases of HEV-related neurological disorders. The mechanisms of pathogenesis, clinico-demographic profile, and outcomes of the HEV-related neurological disorders are described in this article. Nerve root and plexus disorder were found to be the most commonly reported disease, followed by meningoencephalitis.     

目标肌肉神经分布重建大鼠模型及低频电刺激的效果研究

目的:利用大鼠模型开展目标肌肉神经分布重建(TMR)研究,使用低频电刺激,观察电刺激对神经移植后的再生和减轻骨骼肌失神经萎缩程度的效果。方法:所有大鼠随机分为正常对照组、失神经支配组、TMR模型组及电刺激组。制作TMR大鼠模型,将大鼠右侧正中神经移植到胸大肌上,术后2天开始进行低频电刺激。利用植入的肌内电极采集大鼠双侧胸大肌的肌电信号;采用骨骼肌收缩的力学分析方法检测胸大肌的最大单收缩力及最大强直收缩力;应用肌湿重维持率检测胸大肌失神经萎缩情况。结果:1第4周与第1周相比,TMR模型组右侧胸大肌的肌电信号轻微增加;电刺激组右侧胸大肌的肌电信号明显增强;失神经支配组几乎观察不到右侧胸大肌的肌电信号;正常对照组的肌电信号基本不变。2正常对照组的最大单收缩力及最大强直收缩力均明显大于TMR模型组和电刺激组(P0.01),电刺激组则明显大于TMR模型组(P0.05)。3TMR模型组和电刺激组的胸大肌湿重维持率均明显高于失神经支配组(P0.01),电刺激组则明显高于TMR模型组(P0.05)。结论:使用低频电刺激TMR大鼠模型,对促进神经移植后的再生和减轻骨骼肌失神经萎缩有积极作用。     

Long-term follow-up of 44 patients with brachial monomelic amyotrophy

OBJECTIVES: Monomelic amyotrophy of a single upper limb termed "brachial monomelic amyotrophy" (BMMA) is a benign lower motor neuron disorder in the young, with male preponderance, insidious onset of atrophy and weakness, electromyographic evidence of neurogenic pattern without conduction block, slow progression for 2-4 years followed by a stationary course. The aim of the study was to determine whether (i) atrophy and weakness in the affected limb progresses beyond 5 years; (ii) the illness spreads to the other limbs; and (iii) the disease progresses to amyotrophic lateral sclerosis. MATERIAL AND METHODS: Forty-four patients who had a duration of illness of 5 years or more at the last follow-up examination were included in the study. Assessment of symptom profile, neurologic deficit and disability was performed at variable intervals during the follow-up period. RESULTS: Progression of the disease was seen in 37 (84.1%) patients, up to 5 years in 35 (79.5%), 6 years in one and 8 years in another patient. In seven patients (15.9%) the atrophy was accidentally noticed and no further change in the neurologic deficit was observed thereafter. Subsequent to attaining a stationary course, none of the 44 subjects developed fresh symptoms or signs during a mean follow-up period of 9.7 years (range 2.5-23). The mean duration of illness at last follow-up was 12.8 years (range 5-26.5) and in 22 (50%) subjects the disease duration was more than 10 years. Seven patients (15.9%) at presentation had minimal involvement of contralateral upper limb with gross asymmetry and later one more patient developed similar features. Thus, in only a small proportion (18.2%) of patients the neurologic deficit had extended beyond the confines of one upper limb. None of the patients developed involvement of cranial nerves, lower limbs or pyramidal signs. CONCLUSIONS: Progression of the neurologic deficit in the affected limb was seen up to 5 years in the majority followed by a stationary phase with no evidence of fresh neurologic deficit during the follow-up period. Spread to the contralateral upper limb with minimal neurologic deficit was seen in less than a fifth of the patients, but involvement of lower limbs was not observed. BMMA did not evolve to amyotrophic lateral sclerosis. These observations underscore the benign and self limiting course of BMMA.     

AAEM case report #25: anterior interosseous nerve syndrome.

A case study is reported regarding a 57-year-old woman, chose chief complaint was weakness in her thumb that she had noted while gardening. The patient described difficulty pulling weeds out because of an inability to get a firm grip when using the thumb. Physical examination showed weakness of the flexor pollicis longus and flexor digitorum profundus to the index finger. There was no other weakness and no clinical sensory deficit. Electrodiagnostic studies revealed normal median motor and sensory nerve conduction studies with needle examination abnormalities noted only in the flexor pollicis longus, flexor digitorum profundus, and pronator quadratus. The literature on anterior interosseous nerve syndrome (AINS) is reviewed. It is important to differentiate those with idiopathic AINS as part of a neuralgic amyotrophy picture from those with an anatomic cause such as a fibrous band or anomalous muscle. Electrodiagnostic examination can be useful to help make this distinction.