Cases reported "Muscular Atrophy, Spinal"

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1/181. Cervical myelopathy in mucopolysaccharidosis type IV.

    We describe our experience with 8 Italian patients having mucopolysaccharidosis type IV, diagnosed between 1 and 10 years of life, who presented odontoid hypoplasia causing cervical myelopathy. We discuss the possibility of cranio-cervical stabilization in order to reduce the neurological complications. ( info)

2/181. Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study.

    We report an autopsy case of amyotrophic lateral sclerosis (ALS) clinically diagnosed as spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness of the distal part of the left lower extremity at age 42, followed by muscle weakness and atrophy of the right lower extremity and upper extremities. At age 57, she needed transient ventilatory support. Slight weakness in the facial muscles and fasciculation of the tongue appeared at age 60. At age 61, she died of sudden respiratory arrest. During the clinical course, neurological examination revealed neither Babinski signs nor hyperreflexia. The neuropathological examination revealed not only neuronal loss with gliosis in the facial nucleus, hypoglossal nucleus, and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tracts. Based on these clinicopathological findings and review of literature, we conclude that sporadic ALS mimicking SPMA is present. ( info)

3/181. Extraosseous calcified plasmacytoma causing thoracic myelopathy.

    We report on a rare, calcified, plasma cell tumor of the spine causing progressive myelopathy. Other unusual features were the lack of an osseous lesion at the site of the mass, considerable calcified amyloid within the mass but no identifiable amyloid elsewhere, and normal serum immunoelectrophoresis. ( info)

4/181. Complex repetitive discharges: cause or effect of neurogenic muscle hypertrophy?

    We report a patient with adult-onset spinal muscular atrophy (SMA) of the scapulohumeral type with neurogenic muscle hypertrophy (NMH) in markedly weakened biceps muscles in association with continuous complex repetitive discharges (CRDs). This is an apparently unique case due to the bilaterality of the NMH associated with CRDs as well as the well-circumscribed symmetric upper extremity distribution of the hypertrophy. The possible mechanisms of NMH in association with spontaneous motor activity are discussed. ( info)

5/181. Somatosensory evoked potentials in X-linked recessive bulbospinal neuronopathy: a case demonstration.

    Clinicopathological findings in X-linked recessive bulbospinal neuronopathy were characterized by loss of myelinated fibers in the fasciculus gracilis and depletion of neurons in the ventral horn throughout the same segments. Clinical profile of this rare motor neuron disease include sign and symptom of lower motor neuron involving bulbar and spinal level with minimal or no sensory deficit. Previous electrodiagnostic findings consist of electrophysiological evidence of anterior horn cell disease and decreased or absent sensory action potentials in the peripheral nerve. The role of somatosensory evoked potential which can uncover the involvement of posterior column has never been probed. We report a 22-year-old man who had a clinical syndrome of X-linked bulbospinal neuronopathy. The peripheral electrodiagnostic studies supported the evidence of prolonged anterior horn cell disease and decreased sensory response. The median SEPs revealed delayed N11-N13 and N13-N20 interpeak latencies representing demyelination in fasciculus gracilis of upper cervical cord. Therefore, the median SEPs, an uninvasive procedure, can be used as a supportive method to identify sensory neuronopathy with posterior column lesion in this syndrome, especially when the patient has no obvious sensory and endocrine symptom. ( info)

6/181. Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.

    X-linked bulbospinal neuronopathy (XLBSN) or Kennedys disease is a rare inherited neuromuscular disease characterized by adult-onset muscle weakness, usually in a limb-girdle distribution. It is frequently misdiagnosed despite a distinctive clinical presentation, usually due to the absence of a clear family history, and perhaps also due to failure of recognition. Accurate diagnosis is crucial for genetic counseling purposes and because alternative diagnoses usually carry a poorer prognosis. We evaluated 4 patients with XLBSN and one symptomatic female heterozygote patient. Based on our clinical observations in these patients and a systematic review of previously reported cases, the following clinical and electrophysiologic features when present in the setting of adult-onset muscle weakness, are strongly suggestive of the disorder: 1) facial weakness, 2) facial twitching or fasciculations, 3) tongue weakness and atrophy, 4) postural hand tremor, 5) hypo- or areflexia, and 6) absent or low-amplitude sensory nerve action potentials despite clinically normal sensation. We also hypothesize regarding the possibility of partial expression of the abnormal XLBSN gene in a symptomatic heterozygote female patient. ( info)

7/181. Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia.

    The proband, a 53-year-old man, developed progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 50. His father had weakness of lower limbs, and his son had a nasal voice, ocular movement abnormalities, and gynecomastia, whereas two of the proband's brothers showed either gynecomastia or tongue fasciculations. None of the patients showed any expansion of CAG repeat in the androgen receptor gene or any hormonal abnormality. Thus, this family is affected by a form of autosomal dominant spinal and bulbar muscular atrophy with gynecomastia. ( info)

8/181. Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness.

    A newborn presented with respiratory insufficiency requiring artificial ventilation, inability to swallow, lack of spontaneous movements including the facial muscles, and areflexia. Nerve conduction velocities were not recordable. Molecular analysis showed a homozygous deletion in the spinal muscular atrophy (SMN) gene region on chromosome 5q. Pathological and neuropathological examination revealed a normal number of anterior horn cells, hypomyelinated axons in peripheral nerves and some atrophy of skeletal muscle fibres in combination with sarcoplasmic glycogen accumulation. This observation illustrates that severe congenital neuropathy can result from deletions in the SMN gene. ( info)

9/181. Diaphragmatic spinal muscular atrophy with bulbar weakness.

    We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy. ( info)

10/181. Biphasic intra-abdominal desmoplastic small cell tumor in a patient with proximal spinal muscular atrophy.

    A case is reported of intra-abdominal desmoplastic small cell tumor (IDSCT) with biphasic histologic features in a patient with proximal spinal muscular atrophy. The tumor was composed of small epithelial cell nests with spindle cell sarcomatous areas. Both areas were surrounded by a desmoplastic stroma. Immunohistochemical studies revealed reactivity for low molecular weight cytokeratin, epithelial membrane antigen, vimentin, desmin and Leu-7 in both areas. Electron microscopic examination demonstrated paranuclear aggregates of intermediate filaments, zonula adherens and basement membrane-like material in the epithelial cells, while spindle cells in the tumor had fewer intracytoplasmic organelles. However, intermediate or transitional forms of both types of tumor cells were frequently observed. Although IDSCT are known to express multi-phenotypes immunohistochemically, attention should be paid to the broad spectrum of cell morphology in these tumors. ( info)
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