Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A moderately severe spasticity affecting all four limbs, but especially the legs and the right side, developed in a 36-year-old man with mucopolysaccharidosis II (Hunter syndrome) who for 6 months had suffered from pain in the neck radiating into the shoulder. Myelography, computed tomography and magnetic resonance imaging revealed thickening of the cervical meninges as the cause of the symptoms. A laminectomy was performed and the foramen magnum enlarged by an occipital craniotomy. At operation dorsal thickening of the dura was evident; thickened tissue was also palpable in front of the dural sac. Histological examination of a tissue sample revealed deposition of acid mucopolysaccharides. The gait of the patient was improved after the operation and the neck pain disappeared. Similar findings were present in other family members.
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PMID:[Cervical myelopathy in mucopolysaccharidosis type II (Hunter's syndrome). Neuroradiologic, clinical and histopathologic findings]. 211 51

We report two siblings with sarcoidosis; the younger sister had symptoms of central nervous system, and both sisters had subcutaneous mass lesions in the gluteal region. Case 1. A 30-year-old woman presented with two episodes of right leg paresis. On admission, neurological examination revealed right leg weakness, spasticity of both legs, increased deep tendon reflexes in all extremities, urinary disturbance and hearing loss of the right ear, but she had no meningeal signs. Serological studies were normal including angiotensin converting enzyme. Cerebrospinal fluid revealed elevated protein to 340 mg/dl, mild pleocytosis, decreased glucose. CSF culture was negative, and cytology showed no malignant cells. Enhanced MR imaging showed diffuse leptomeningeal enhancement in both the brain around basal meninges and the whole spinal cord. Case 2. A 34-year-old woman (the elder sister of Case 1) presented with visual disturbance. She had been diagnosed to have bilateral iritis at Hiroshima Red Cross Hospital before visiting our hospital. Neurological examination and serological studies were normal. In both cases, left gluteal subcutaneous mass was detected and its biopsy revealed characteristic sarcoid nodules and confirmed the diagnosis of sarcoidosis. A tendency of familial occurrence and positive associations of the specific HLA antigens in sarcoidosis have been reported. Though the diagnosis of neurosarcoidosis has been difficult without extraneurological signs, sarcoidosis should be considered as a differential diagnosis in all the patients with myelopathy, and enhanced MRI and measure of CSF angiotensin converting enzyme seem to be useful for diagnosis and evaluation of drug effect during the course of steroid therapy.
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PMID:[Two siblings with sarcoidosis diagnosed by younger sister's central nervous symptoms]. 904 58

Neurobrucellosis is chronic brucellosis affecting the nervous system. It may mimic many neurological diseases but it rarely presents as polyradiculopathy. Brucellar radiculopathy was diagnosed in 6 patients who presented with weakness of the lower extremities. Five patients had lumbar puncture, 4 had magnetic resonance imaging of lumbar spine and 4 had nerve conduction studies. Five patients had areflexia and weakness; one had areflexia with proprioceptive ataxia. All patients had positive Brucella serology; cerebrospinal fluid showed lymphocytic pleocytosis, elevated protein, normal-low glucose; brucella serology was positive in all specimens. Nerve conduction studies showed absent F-wave in 2 patients and polyradiculopathy with secondary motor axonopathy in 2 patients; motor conduction velocity was normal in all. Magnetic resonance imaging with gadolinium injection showed enhancement of lumbar nerve root in 3 patients, and no enhancement in one. All patients improved after treatment with antibiotics and lumbar root enhancement disappeared. Symptoms of myelopathy were unmasked after radiculopathy had resolved in one patient. In endemic areas, brucella infection should be considered in the differential diagnosis of radiculopathy. Radiculopathy is probably due to inflammation of the meninges and the intrathecal portion of the roots. The pathogenesis of myelopathy may involve demyelination as spasticity persists or worsens after radiculopathy improves.
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PMID:Polyradiculopathy. A rare complication of neurobrucellosis. 2364 86