Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neville and coauthors (1973) reported several cases of neurovisceral storage disease with vertical supranuclear gaze paresis, ataxia and other central nervous disorders. This disease is classified into Niemann-Pick disease type C because of the presence of foamy cells or sea-blue histiocytes in bone marrow, and the accumulation of sphingomyelin, cholesterol and other glycosphingolipids. In this paper, we reported a rare case of neurovisceral storage disease with severe horizontal supranuclear ophthalmoplegia and sea-blue histiocyte in bone marrow. The patient was a 9-year-old boy. He was hospitalized for unstable gait. The neurological examination revealed severe horizontal supranuclear ophthalmoplegia, moderate ataxia of four extremities and trunk, and mild dystonia of neck and four limbs on walking and standing. The ocular movement in the vertical direction was less impaired and his mentality was almost normal. The bone marrow aspiration showed a few sea-blue histiocytes. The activities of fibroblast lysosomal enzymes including sphingomyelinase were normal. The rectal biopsy revealed many foamy cells in mucous membrane and submucosa. The cell had PAS-positive and acid phosphatase-positive substances, which showed rose-red metachromasia with Feyrter's thionin method. But these abnormal cells were never stained by Sudan black B. These histochemical reactions were compatible with those of Neville's neurovisceral storage disease (Lake, 1983). Therefore we supposed the pathogenesis of this case was the same as that of Neville's cases. In this case, the horizontal supranuclear ophthalmoplegia was a unique symptom.
 ...
PMID:[A case of neurovisceral storage disease with sea-blue histiocyte and severe horizontal supranuclear ophthalmoplegia]. 233 23

The patient, an otherwise healthy 42-year-old woman, developed non-throbbing periorbital pain and abducens nerve palsy of the right side two weeks prior to the present admission. Under the diagnosis of Tolosa-Hunt syndrome, she had been placed on prednisolone (30 mg/day) in another hospital, leading to exacerbation of her neurologic manifestations. On admission, neurologic examination revealed bilateral abducens nerve palsy, incomplete bilateral oculomotor paresis, and hypalgesia in the first and the second branch of the left trigeminal nerve. On CSF examination there were 742/mm3 white blood cells of which about 80% of the cells were neutrophils. The glucose was 70 mg/dl (blood glucose was 170 mg/dl) and the protein 49 mg/dl. Although repeated cultures for bacteria or fungi were negative, PAS stains for CSF sediments showed a large number of yeasts morphologically consistent with a Malassezia species. Anti-fungal treatment with fluconazole and flucytosine resulted in dramatic improvement both in neurologic signs and laboratory findings. According to morphological criteria, the yeasts found in CSF sediments from this patient differed from those described previously as being pathogenetic in the CNS fungal infection. By contrast, these yeasts were similar to a Malassezia species in all aspects. Because some Malassezia requires oil for its growth in culture, it is possible that it failed to grow in the standard media and thus escaped recognition.
 ...
PMID:[Fungal meningitis caused by a Malassezia species masquerading as painful ophthalmoplegia]. 837 Feb 13

Transgenic mice expressing mutant (P301L) tau develop paresis, neurofibrillary tangles and neuronal loss in spinal motor neurons beginning at 4 to 6 months of age. Astrocytes and oligodendrocytes acquire filamentous tau inclusions at later ages. Here we report pathology in the spinal white matter of these animals. Progressive white matter pathology, detected as early as 2 months of age, was most marked in lateral and anterior columns, with sparing of posterior columns until late in the disease. Early changes in Luxol fast blue/periodic acid Schiff (LFB/PAS) and toluidine blue stained sections were vacuolation of myelin followed by accumulation of myelin figures within previous axonal tubes and finally influx of PAS-positive macrophages. Myelin debris and vacuoles were found in macrophages. At the ultrastructural level, myelinated axons showed extensive vacuolation of myelin sheaths formed by splitting of myelin lamellae at the intra-period line, while axons were atrophic and contained densely packed neurofilaments. Other axons were lost completely, resulting in collapse and phagocytosis of myelin sheaths. Also present were spheroids derived from swollen axons with thin myelin sheaths containing neurofilaments, tau filaments and degenerating organelles. Many oligodendrocytes had membrane-bound cytoplasmic bodies composed of tightly stacked lamellae capped by dense material. The vacuolar myelopathy in this model to some extent resembles that reported in acquired immune deficiency syndrome and vitamin B12 deficiency. The progressive axonal pathology is most consistent with a dying-back process caused by abnormal accumulation of tau in upstream neurons, while vacuolar myelinopathy may be a secondary manifestation of neuroinflammation.
 ...
PMID:Progressive white matter pathology in the spinal cord of transgenic mice expressing mutant (P301L) human tau. 1690 61