A case of progressive hemiatrophy with type 2 muscle atrophy in muscle biopsy]

We reported a case of progressive hemiatrophy, whose skeletal muscle biopsy revealed type 2 fiber atrophy. This patient, a 40-year-old woman, noticed left leg atrophy at the age of 39. She had a history of minor trauma of the left thigh at the age of 30. On admission, physical examination revealed atrophy of various parts of her left side of body, predominantly in the left leg. There was no dermatological or neurological abnormalities except these atrophies. Hematological and biochemical examinations were normal. EEG, EMG, nerve conduction studies and autonomic function tests were normal in either side of the body. MRI study showed reduced muscle bulk as well as subcutaneous fatty tissue especially in her left leg. Skeletal muscle biopsy of her left quadriceps femoris muscle revealed type 2 fiber atrophy and type 1 fiber predominance. However, no abnormality was found in the intramuscular nerves. We considered that type 2 muscle fiber atrophy was one of the cause of atrophy of this case.     

An autopsied case of progressive spinal muscular atrophy showing tremor and choreiform movement]

A 42-year-old man without family history of neurologic disease developed muscle weakness, and wasting associated with tremor and choreiform movement. He died at age 75 with 33 years of total duration of illness. Autopsy revealed neuronal loss and gliosis in the anterior horns of the spinal cord, hypoglossal nuclei, caudate nuclei, putamen, globus pallidus, and substantia nigra. Bunina bodies or Lewy bodies were not seen. Several similar cases with motor neuron disease, dementia and parkinsonism have been reported in the literature. However, this pattern of chronic spinal neostriato-pallido-nigral degeneration has not been reported.     

A case of unilateral ischemic stroke with ipsilateral limb-kinetic apraxia]

A 74-year-old man developed aphasia, weakness of the right upper extremity and left limb-kinetic apraxia. Brain MRI showed an infarct in the area supplied by the left middle cerebral artery. Cerebral angiography revealed high grade stenosis with plaques of bilateral proximal internal carotid arteries. The carotid endarterectomy of the left carotid artery was performed three months later. After this operation his left limb-kinetic apraxia improved. We considered transhemispheric diaschisis, callosal apraxia or diagonistic dyspraxia as a possible cause of this rare symptom.     

A case of adult-onset tethered cord syndrome accompanied with slowly progressive muscular atrophy in the lower limbs]

A 70-year-old man developed slowly progressive muscular atrophy in the lower limbs from age 28, followed by urinary disturbance from age 40. Neurological examination revealed bilateral severe muscular atrophy in the lower limbs with hypesthesia and hypalgesia, mild muscle wasting of both hands, urinary incontinence, and constipation. A sacral dimple was also recognized. A diagnosis of tethered cord syndrome with thick filum terminale was made by spinal magnetic resonance imaging (MRI). After the operation for untethering, urinary disturbance has been slightly improved. Although the adult-onset tethered cord syndrome with the thick filum terminale was extremely rare, the presence of congenital dermal abnormality and segmental distribution of the muscular involvement is often helpful for the clinical diagnosis of this disease. Spinal MRI is one of the most diagnostic method for this disease.     

A case of cortical infarction showing unilateral facial and hypoglossal paresis]

We describe a case presenting with facial and hypoglossal nerve paresis due to cortical cerebral infarction. A 54-year-old man visited our hospital complaining of sudden episode of dysarthria and facial paresis. Neurological findings revealed tongue deviation to the left and left facial paresis with forehead wrinkling while neither limb paralysis nor sensory impairment was observed. Head CT performed on day 3 after onset revealed a cortical infarction in the right prefrontal gyrus. Symptoms gradually improved with medical management. This patient had isolated facial and hypoglossal nerve paresis without other neurological symptoms. Patients with mild paresis of cranial nerves should be diagnosed carefully, because their paresis could be supranuclear type.     

Central sympathetic dysregulation and immunological abnormalities in a case of progressive facial hemiatrophy (Parry-Romberg disease)

A case of hemifacial atrophy (Parry—Romberg disease) is discussed. Electrophysiological and immunological studies were performed. Electromyography, blink reflex and trigeminal evoked potential abnormalities indicate that the brain stem may be implicated in the aetiology of the disease. Immunological evidence favoured this possibility and demonstrated possible involvement of the noradrenergic system. Hyperactivity of the brain stem sympathetic centres, possibly caused by an autoimmune process, may be the primary cause of the cutaneous and subcutaneous atrophy in Parry—Romberg disease.     

A survival analysis of 155 cases of progressive muscular atrophy

We performed a survival analysis of 155 cases of progressive muscular atrophy (PMA). In about half the cases, hands were involved first, the lower limbs in 30% and the shoulder girdle in 23%. The lifetables of PMA, adjusted to the expected mortality, showed a survival rate of 61.3% and 56.4% at three and five years, respectively. The location of onset symptoms did not modify the life expectancy, whereas the age of the patients at the moment of first diagnosis had a great influence on the course of the disease. The patients were further subdivided in two groups on the basis of the diffusion of the neuromuscular damage at the moment of the diagnosis. The course of the patients with a localized disease was markedly better than that of subjects with widespread disease. Some hypotheses are made about the latter group of cases.     

Cervical root avulsion presenting proximal segmental muscular atrophy of unilateral upper extremity]

A 56-year-old woman noticed non-progressive weakness in the proximal part of the right upper extremity from her childhood. At the age of 37 years, she was diagnosed as "spinal muscular atrophy" by an orthopedic surgeon. At the age of 56, neurological examinations revealed muscular atrophy and weakness confined to the right deltoid, biceps brachii and brachioradialis together with minor sensory disturbance in the lateral side of the right shoulder and forearm without pyramidal sign in the lower extremities. The neurological features of this case differed from those of juvenile type of distal and segmental muscular atrophy of upper extremities in distribution of muscular atrophy, and simulated those of cervical spondylotic amyotrophy. Myelography demonstrated root avulsion of the right C5 and C6 roots. CT myelography revealed traumatic meningocele. Therefore a clinical diagnosis of cervical root avulsion resulting from unrecognized birth injury was made. The reason of motor dominant pictures of this case may be vulnerability of the anterior nerve roots to traction injury.     

Chronic unilateral distal juvenile muscular atrophy localized to the upper extremity (Hirayama type). A European case

A 40 year-old Frenchman had had for 12 years, an amyotrophy of one upper limb. Clinical features were similar to those previously reported in Japan and India i.e. atrophy limited to one hand and forearm, with mild functional discomfort, and slow progression for 2 years after which the disorder did not progress. Electromyography showed disturbances of anterior horn cell type. The cause of this syndrome is unknown, no pathological case has yet been reported. The prognosis appears to be good.     

A case of spinal muscular atrophy with marked calf hypertrophy and adolescent onset]

We report on a 41-year-old male patient with spinal muscular atrophy (SMA). He had slowly progressive muscular weakness and hypertrophic calves since 14 years of age. The upper arms were slightly, and the thighs moderately atrophic, but the calves were remarkably hypertrophic. There was muscle weakness of both the upper and lower limbs, being more proximal in distribution. He had a positive Gowers' sign and his gait was slightly waddling. Serum creatine kinase level was elevated (518IU/l). Electromyogram revealed a neurogenic pattern. Muscle biopsy of the left biceps brachii showed chronic neurogenic changes. Immunohistochemical examination and Western blot analysis using anti-dystrophin antibodies showed no abnormality. DNA analysis with multiplex PCR proved no deletion in the dystrophin gene, while deletions of exons 7 and 8 of the telomeric copy of survival motor neuron gene were detected. In 1978, Pearn et al. described a new variant syndrome of SMA, characterized by adolescent onset, gross hypertrophy of calves, and a slowly progressive clinical course. The present case is compatible with this syndrome. Therefore, it is suggested that this syndrome, mimicking Becker muscular dystrophy, is not an independent clinical entity, although the phenotype of this syndrome is different from that of typical SMA.     

A case of ipsilateral ageusia, sensorineural hearing loss and facial sensorimotor disturbance due to pontine lesion]

We report a 58-year-old woman with pontine lesion presented with subacute onset of unilateral gustatory disturbance accompanied by facial numbness, and hearing loss. Neurologic examination revealed superficial hypesthesia and paresthesia on the right side of the face, right peripheral type facial paresis, ageusia on the right half of the tongue and right sensorineural deafness. No other neurologic signs were observed, and laboratory data were all normal. Brain MRI revealed a small lesion in the right dorsolateral tegmentum of the middle pons. Electrogustometry showed marked reduction in the sense of taste on the right half of the tongue. ABR showed diminished amplitude in the IV-V wave of the right side, while SEP and VEP were normal. The clinical diagnosis was demyelinating lesion and intravenous methylprednisolone (1 g/day) was administered for 3 consecutive days, resulting in prompt improvement in the symptoms. The lesion was suspected of affecting ipsilateral side of the spinal trigeminal nerve tract and the nucleus, the intraaxial infranuclear facial nerve fiber, the lateral lemniscus adjacent to the superior olivary nucleus and the central gustatory tract. Our case suggests that the central gustatory pathway projecting from the nucleus of the solitary tract to the parabrachial nucleus, presumed to be pontine taste area, ascends ipsilaterally and is located laterally from the medial lemniscus.     

A case of Avellis' syndrome with ipsilateral central facial palsy due to a small medullary infarction]

We report a 51-year-old man with mild left central facial palsy and left Avellis' syndrome due to a small medullary infarction. On admission, neurological examination revealed hoarseness, dysphasia, absent left gag reflex, palsies of the left vocal cord and left soft palate, and hypalgesia and thermohypesthesia on the right side of the trunk and extremities. In addition, he had a mild left central facial palsy. He had no nausea, vomiting, vertigo, hiccups, nystagmus, Horner's sign, facial numbness, or paresis or ataxia of the limbs. A T2 weighted MRI showed a small, high signal intensity area in the left dorsal region of the medulla and this lesion was presumed to involve the nucleus ambiguus and a part of the spinothalamic tract. These findings suggest that an aberrant supranuclear pathway, looping around the nucleus ambiguus to the facial nucleus exists in our patient.     

A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy

Three patients from a large pedigree are described who had autosomal dominant spinal muscular atrophy that became manifest between the end of the fourth and the sixth decade. The disease progressed rapidly without evidence of corticospinal tract dysfunction, and within 3 years the patients died from respiratory failure.     

A case of facial hemiatrophy associated with linear scleroderma and homolateral masseter spasm

The rare combination of progressive facial hemiatrophy, linear scleroderma and spasm of the homolateral masseter muscle was observed in a 39 year old woman. The possible pathogenetic meaning of the association is discussed on the electrophysiological evidence and in the light of published cases.

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Sommario In una donna di 39 anni è stata osservata la rara associazione di emiatrofia facciale progressiva, sclerodermia lineare e spasmo del muscolo massetere omolaterale. Sulla base dello studio elettrofisiologico nonché dalla revisione della letteratura, gli Autori discutono sul possibile significanto di tale associazione da un punto di vista patogenetico.

     

Post-poliomyelitis late progressive muscular atrophy (PPMA)--clinical analyses of Japanese cases]

Clinical and epidemiologic analyses of PPMA in Japan based on the nation-wide case survey were reported, and differences between PPMA and ALS were discussed. The present survey covering the years from 1984 through 1991 cited 42 PPMA cases (30 male:12 female). The absolute incidence of PPMA is estimated 0.12/10(5) of the Japanese population (about 150 cases in total), which indicates 0.5% of the polio survivors. In Japan an actual increase of patients is noticed in these 10 years, which reflects the big epidemic of polio around 1950-60. The antecedent poliomyelitis occurred at the mean age of 2.6, mostly between 1940 and 1960. Residual paralysis was generally absent or only minimal. Late muscular atrophy and weakness were noticed at age from 16 to 63 y (mean:41.5), with the mean latency of 40.1 years after polio. Both polio-affected and unaffected site of the limb were equally involved by PPMA, but the left leg tends to be predominantly involved. Neurological symptoms were summarized as an asymmetrical proximal muscular atrophy and flaccid motor paresis in one or two limbs with decreased tendon reflexes. Fasciculation in 45.2%, myalgia in 28.6%, and hypesthesia in 28.5% were noticed. Electromyography and muscle CT scan showed marked selective neurogenic changes. In most cases symptoms are stable or slowly progressive, with some recovery by rest or rehabilitation and deterioration by over work and/or trauma. On regarding these clinical features, PPMA is essentially different from classical ALS. Long-term hyperfunction of survived neurons with potential fragility by polio infection is suspected to mediate PPMA.(ABSTRACT TRUNCATED AT 250 WORDS)