Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chediak-Higashi (C.H.S.) syndrome is a rare immunodeficiency, due to defective granulocyte activity. The syndrome is characterized by large inclusion bodies in the leukocytes, albinism, photophobia, nystagmus, and recurrent infections. Some patients develop hepatosplenomegaly, lymphadenopathy, pancytopenia and widespread organ infiltrates with mononucleated cells. This phase is called "accelerated (or lymphoma-like syndrome) phase". A 5 years old girl with C.H.S. in accelerated phase received initially medical treatment without improvement. A splenectomy was performed to remove the hypersplenism and the mechanical compression of the spleen on the gut. Few days after the splenectomy the fever and the pancytopenia disappeared. The pathological examination of the spleen showed multiple intraparenchymal abscesses. Unfortunately, six months after the operation, she died after an acute episode of pneumonia, with normal hematological pattern. The splenectomy may play a role in the "accelerated phase" of C.H.S., but new treatments (bone marrow transplantation) are necessary to remove the basic disease.
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PMID:[Role of splenectomy in Chediak-Higashi syndrome in its accelerated phase]. 383 24

A 28-year old male was admitted to Musashino Red Cross Hospital on June 21, 1975, because of symptoms of increased intracranial pressure and cerebellar dysfunction. Thirteen months prior to admission he had a mild fever, tremor of right arm, headache, nausea and unsteady gait, but made a gradual recovery in about 40 days. A month prior to admission he had unsteady gate again wit dizziness, photophobia and lacrimation. Gait disturbance aggravated and he was admitted to another hospital, where he developed recent memory disturbance and cloudiness of consciousness. Spinal tap revealed initial pressure of 280 mm CSF. So a mass lesion possibly in the posterior fossa was suspected and the patient was referred to the neurosurgical department of musashino Red Cross Hospital. On admission he was moderately disorientated and disturbed in recent memory. Wide based gait, horizontal and vertical nystagmus were also noted. Angiography revealed rounding of the curve of the pericallosal artery but no space occupying lesions. External ventricular drainage was performed on July 25, 1975. After the operation, his orientation improved without change in dizziness, nystagmus and recent memory disturbance. Ventriculography showed hydrocephalus with cisternography revealed a block at the basal cisterns. PPDs was negative and typical sarcoid tubercles were found in the biopsy specimen of the cervical lymphnode. Kveim test was positive. But repeated chest roentgenogram failed to show bilateral hilar lymphadenopathy, or other changes consistent with pulmonary sarcoidosis. Steroid therapy resulted in marked symptomatic improvement.
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PMID:[A case of CNS sarcoidosis -case report of hydrocephalus due to mechanical obstruction secondary to sarcoid granulomata at the outlet of the fourth ventricle (author's transl)]. 723 30

A 28-year-old man was admitted to our hospital, because of double vision, memory disturbance and dysarthria. These symptoms developed in November, 1994. His mental activity was gradually decreased and he became apathetic. A physical examination on admission was unremarkable. There were no lymphadenopathy, hepatosplenomegaly or skin rash. Neurological examination revealed disorientation, decreased mental activity and left gaze-evoked nystagmus. Neuropsychological tests demonstrated impairment of recent memory and performance but frontal lobe functions were maintained. Laboratory data showed hyponatremia, elevation of antinuclear antibodies and IgG-antibodies to Epstein-Barr virus capsid antigen and Epstein-Barr virus nuclear antigen. A brain MRI revealed multiple lesions in the cerebral subcortex, cerebellum and brainstem. These lesions showed high signal intensity on T2-weighted images and enhanced high signal intensity on T1-weighted images using Gd-DTPA injection. A cystic mass was seen between bilateral lateral ventricles and contacted with the fornix and thalamus. Lymphomatoid granulomatosis was diagnosed by an open brain biopsy, which showed diffuse infiltration of small lymphocytes, histiocytes and plasma cells, especially around the small vessels. Epithelioid granuloma or necrosis was not seen. An immunohistochemical study showed that nearly all lymphocytes were MT-1 positive T lymphocytes. The patient was treated by whole brain irradiation (30Gy) and pulse therapy of methylprednisolone. Multiple lesions in the brain responded to these modalities with complete resolution of the lesions and clinical improvement. In this case, impressive multiple and cystic lesions seen on brain MRI disappeared by whole brain irradiation and steroid. Since etiologies of multiple lesions on MRI includes many possibilities, histological diagnostic methods should be performed to obtain a definitive diagnosis. This is the first case of lymphomatoid granulomatosis that showed multiple and cystic lesions on brain MRI in Japan.
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PMID:[Lymphomatoid granulomatosis of the brain with multiple lesions on MRI]. 893 97

Three cases of bovine gamma(delta) T-cell lymphoma without skin involvement are described. Case 1 was a 17-month-old Holstein heifer with generalized lymphadenopathy. Case 2 was a 4-year-old Holstein cow that had multiple tumour masses in the uterine body and horns. Case 3, a 23-month-old Holstein bull was presented with generalized tremor, nystagmus and hyperesthaesia, and there were several tumour masses in the meninges. Cases 1 and 2 had epitheliotropic neoplastic infiltrates in the tonsillar epithelium and endometrial glands, respectively. Immunohistochemistry showed CD3+, WC1+, CD79a- lymphoma cells in all cases, and perforin was positive in two cases. Electron-dense granules were present in many neoplastic cells of all cases. These findings supported the cytotoxic gamma(delta) T-cell origin of the present lymphomas. Bovine gamma(delta) T-cell lymphoma may originate in a wide variety of anatomical sites and may be classified into several histological subtypes.
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PMID:Nodal, uterine and meningeal gamma(delta) T-cell lymphomas in cattle. 1510 38

Whipple's disease is a rare chronic multi-systemic infectious disorder caused by the Gram-positive bacillus, Tropheryma whippelii. Infection may involve any organ in the body, and most commonly affects white men in the fourth to sixth decades of life. The most common presenting symptoms are gastrointestinal and include abdominal pain, diarrhoea, anorexia and associated weight loss. However, the variability in presentation is considerable and some patients may present with intermittent low-grade fever, neurological abnormalities (nystagmus, ophthalmoplegia, cranial nerve defects), migratory arthralgia, lymphadenopathy, or involvement of the cardiovascular system. In typical Whipple's disease, the most severe changes are seen in the proximal small intestine and biopsy reveals mucosal and lymph node infiltration with large, foamy histocytes, containing granules that stain positive with periodic acid-Schiff (PAS) reagent and represent intact or partially degraded bacteria. Extended antibiotic treatment (up to 1-year) is indicated. Life-long surveillance for recurrence is essential, once primary treatment has been completed. We report the case of a 58-year-old man who developed a rare infection with the actinobacterium, T. whippelii. The patient had suffered intermittent episodes of varying clinical symptoms associated with multiple hospital admissions and clinical diagnoses, spanning a period of 22 years. Historically, arthralgia was the primary manifestation in this patient and also was the chief complaint for which he was first hospitalized 22 years ago. At his most recent admission to our hospital department, his presenting symptoms were persistent fatigue, weight loss, arthralgia and diarrhoea. Thus, it is essential that clinicians retain a high index of suspicion for T. whippelii infection in patients who have a long-term history of arthritis, fever and diarrhoea.
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PMID:Whipple's disease: multiple hospital admissions of a man with diarrhoea, fever and arthralgia. 1603 47

PURPOSE.: Dorsal midbrain syndrome, which is characterized by upgaze paralysis, light-near dissociated pupils, eyelid retraction, and convergence retraction nystagmus, can be caused by compression, ischemia, inflammation, or injury to the dorsal midbrain. Although brain metastases are common in certain cancers, including melanoma, only 3 to 5% occur in the brain stem. We present a case of metastatic melanoma from an unknown primary that initially presented as dorsal midbrain syndrome. CASE REPORT.: After a prodrome of intermittent nonspecific visual symptoms, a 60-year-old male veteran presented with bilateral upgaze paralysis and convergence retraction nystagmus. A single hemorrhagic lesion in the midbrain was causative. An inguinal mass with associated lymphadenopathy was subsequently discovered, and the biopsy from this site revealed malignant melanoma. A primary lesion was never found. The patient underwent surgical resection of the groin lesion and stereotactic radiosurgery for the midbrain metastasis but passed away 6 months after his initial presentation. CONCLUSIONS.: The presentation of bilateral vertical gaze paralysis, especially in the company of convergence retraction nystagmus, light-near dissociated pupils, or eyelid retraction, should raise concern for midbrain pathology. Although metastases to the midbrain are rare, they carry a grave prognosis, especially if melanoma is the primary malignancy, and most treatment options are considered palliative.
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PMID:Metastatic melanoma from unknown primary presenting as dorsal midbrain syndrome. 2314 79

An 8-day-old newborn female twin Holstein calves with a history of weakness, anorexia, emaciation and convulsion were presented to Tabriz University Veterinary Teaching Hospital. On admission, the calves were febrile and recumbent. Physical examination revealed many ticks from the external body surface of the animals, right and left prescapular lymphadenopathy, severe opisthotonos, nystagmus, pedaling, blindness, hyperpnea and hypersthenia. Buccal and vaginal mucous were pale and no other physical abnormalities were diagnosed. Fecal flotation, complete blood count, bone marrow aspiration, cerebrospinal fluid (CSF) analysis, necropsy and histopathological examination were performed. Fecal flotation showed no helminth eggs or coccidial oocysts. On blood smears obtained from the earlap, >70 percent of erythrocytes were infected with piroplasms organisms and schizonts were obvious in smears of lymphocytes lymph node. Blood count revealed a lymphopenia, poikilocytosis, anisocytosis and non-regenerative anemia (packed cell volume; mean, 16%). Histopathological examination revealed Arthus reaction through the walls of cerebral blood vessels, which resulted in local necrosis of the brain. Analysis of CSF showed no abnormality in appearance or biochemical and cell counts. Although the calves were treated with a single intramuscular injection of buparvaquone and oxytetracycline once daily they did not respond to the treatment and died. In conclusion, the present cases showed a rare cerebral form of theileriosis by vertical transmission that confirmed by the presence of piroplasms on blood films and multinuclear schizonts on lymph node aspiration smears, gross and histopathological examinations and unsuccessful treatment in a newborn twin Holstein calves.
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PMID:Occurrence of congenital cerebral theileriosis in a newborn twin Holstein calves in Iran: Case report. 2556 25