Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

We report the case of a 3-(1/2)-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzymes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.     

Olivopontocerebellar atrophy: a case report

A family with olivopontocerebellar atrophy is presented. Out of 7 siblings two male and one female were involved at a similar age of 5 years. Early onset of the disease is striking. The index case presented with progressively increasing choreiform movements and cerebellar signs. Magnetic resonance imaging morphology revealed the diagnosis.     

Congenital cervical spinal atrophy: an intrauterine hypoxic insult

We present two patients with congenital cervical spinal atrophy who were born at 37 and 33 weeks of gestation. Both patients were unrelated and had no family history of neuromuscular diseases. They presented at birth with arthrogryposis multiplex and symmetrical severe muscle weakness and wasting confined to the upper extremities. There was no sensory or bulbar symptom. Electromyography showed polyphasic and fast-firing units in the proximal muscles of the upper extremities. With the evidence of chronic denervation and re-innervation, we speculate that this static condition is most likely due to circulatory insufficiency causing anterior horn cell ischemia during the latter part of the first trimester.     

Autosomal dominant adult-onset spinal muscular atrophy with vocal cord paralysis: a case report]

This report concerns a 41-year-old female case of spinal muscular atrophy (SMA) associated with vocal cord paralysis. Her parents were not consanguineous. Her maternal grandmother and younger brother were suspected of having SMA. At age 37, she first experienced gait disturbance and began to have slowly progressive dysarthria and weakness of the extremities. Neurological examination revealed that she had inspiratory stridor, dysarthria and proximal muscular weakness of the extremities. Achilles tendon reflexes were absent, while there were no pathological reflexes or sensory disturbances. She showed a waddling gait and Gowers' sign. The laboratory data indicated mild elevation of serum CK. The nerve conduction study was normal, while the electromyographic study and muscle biopsy revealed neurogenic changes. We diagnosed the case as adult onset SMA of the autosomal dominant type. Laryngoscopy revealed that the patient had vocal cord paralysis, which was predominant in abductor muscles and of the posterior paralysis type according to the categories established by Isozaki. Genetic analysis showed no mutations in the genes of the neuronal apoptosis inhibitory protein and of the survival motor neuron.     

少年型脊肌萎缩症一家系报告

少年型脊肌萎缩症(spinal muscular atrophy,SMA)是脊肌萎缩症的一个亚型,由Kugelberg Welander(1956年)首次报道,是一种常染色体隐性遗传性疾病,临床少见,容易与肌营养不良混淆。现报道一家系如下。例1 女性(先证者,Ⅲ2),10岁,冈进行性双下肢无力7 年,2005年2月28日来我院就诊,以进行性肌营养不良收入     

Syringomyelia complicating syphilitic spinal meningitis: a case report.

An association between syringomyelia and spinal syphilis was described in the early literature but has not been the subject of reports subsequently. We give details of a contemporary case, affirmed by magnetic resonance imaging. The patient showed significant clinical recovery following penicillin treatment, while the imaging appearances became less pronounced.     

Depression in multiple system atrophy: a case report

A 53-year-old woman who developed depression as the first symptom of multiple system atrophy was treated. Depression was followed successively by autonomic failure, parkinsonism and cerebellar ataxia. Treatment with L-DOPA, L-threo-DOPS, and thyroid releasing hormone was associated with improvement of autonomic failure and parkinsonism. As for depression, scores on the Zung scale and the Hamilton scale improved from 58 to 49 and from 30 to 22, respectively, This case is remarkable in that depression preceded neurologic dysfunction and was managed successfully by antiparkinsonian medication. A common underlying disturbance may be responsible for the depression and neurologic dysfunction in multiple system atrophy.     

Primary spinal melanoma: a case report

Intra spinal primary melanoma is a rare entity. We report a new case, atypical in relation to its primary radicular location, and to its early metastatic intradural and extra-medullary location, six months later. MRI is the more valuable examination, showing a spontaneously hyper-intense lesion on T1-weighted MR images, intense enhancement after gadolinium administration, and decreased signal on T2-weighted MR images, thus suggesting a diagnosis of melanocytic or hemorrhagic lesion. Signal abnormalities are not specific and definitive diagnosis is established after histological analysis.     

Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy

We report two sisters with congenital olivopontocerebellar atrophy, including immunohistochemical studies of autopsy brain tissue. Both cases showed microcephaly with disproportionately marked hypoplasia of the posterior fossa structures including pons, inferior olivary nuclei, and cerebellum. Microscopically, the pons was atrophic with near total loss of pontine nuclei and transverse pontocerebellar tracts (inferior and middle cerebellar peduncles). The medulla showed absent inferior olivary and arcuate nuclei. The cerebellum showed hypoplasia with rudimentary dentate nuclei, profound loss of Purkinje cells and external granule cell layer, a sparse internal granule cell layer of the entire dorsal vermis and the dorsal portions of the lateral folia, as well as markedly reduced underlying axon fibers in the white matter with marked astrogliosis. These features were highlighted by immunohistochemical study using antibodies against Purkinje cell epitopes, synaptophysin, neurofilament, glial fibrillary acidic protein, and tuberin. The cerebral hemispheres were unremarkable. Our cases are characterized by a pattern of diffuse posterior cerebellar involvement that has rarely been described in previous reports. An autosomal recessive pattern of inheritance is suggested. The abnormalities may result from antenatal degeneration or atrophy of neurons in the involved sites rather than hypoplasia or developmental arrest starting in the second and third month of late embryonic life. Received: 24 November 1997 / Revised, accepted: 16 February 1998     

Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.

Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This condition should be regarded as a neurogenic type of arthrogryposis, limited to the upper limbs.     

Progressive spinal muscular atrophy in a case of hypokalamic periodic paralysis.

A 47-year-old man with well-documented hypokalemic periodic paralysis demons-rated permanent myopathy as shown by biopsy. In addition there was clinical and biopsy evidence of progressive spinal muscular atrophy. The feature of the combination of these diseases is reported in a case and discussed.