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

Observation of neurosarcoidosis in a thirty-year-old black female characterised predominantly by bilateral facial nerve paralysis gave rise to a review of literature since 1978 and also to a comparison with an early study in 1963. As described 1963 the clinical picture is characterized by increased protein content of the CSF (33.8%), facial nerve paresis (25.5%), pleocytosis (23%), diabetes insipidus (21%), hemiparesis (17.2%), organic psychosis (16.9%), papilloedema (15.5%), ataxia (13%), convulsive seizures (12.5%), optic atrophy (12.5%), loss of hearing (12.2%), nystagmus (8.6%) and numerous other symptoms more rarely found. This corresponds to the symptoms of chronic basal meningitis with an infiltration in the neighbouring structures of brain and less frequently the spinal cord. In only 58.7% of the cases (presumably at the onset of sarcoidosis) was the bronchial tract (or the lungs) affected, in 11.5% the skin or the eyes. Although the clinical picture is clear enough the etiology has yet to be determined. Evidence of a pathogen or a pathogenic agent (analogous to berylliosis) has never been established to date. On the other hand there are some indications of a disturbance in the immune system, perhaps of a particular genetic foundation since sarcoidosis strikes black patients with conspicuous frequency. There exist more cases in one family. Exceeding expected random distribution, many patients have the HLA-Factor B 8 (on the chromosome 6) and DR 3. The Kveim-Test was in 71 cases positive, in 12 cases negative. The possibilities of carrying out studies of CSF - analogous to the studies of bronchial lavage - in the most cases of neurosarcoidosis have not been exhausted as to determine the activity of the T-lymphocytes, the interleucines, the angiotensin-converting enzyme while the Gallium 67 scintigraphy and other methods to determine the non-specific activity of the inflammation. The efficiency of the treatment with corticosteroids (Prednison or Triamcinolonacetonid) depends of the phase of the inflammatory process. 12% of the registered cases died.
 ...
PMID:[Neurosarcoidosis. Comparative analysis of the clinical profile based on 537 cases from the world literature up to 1963 and from 1976-1988]. 240 26

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.
 ...
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

1-year-old girl was admitted for fever of unknown origin. Funduscopy revealed juxtapapillary retinal inflammatory mass in one eye with a differential diagnosis of sarcoidosis, tuberculosis, retinoblastoma or metastatic disease. Retinal biopsy showed necrotizing granulomatous retinitis. Extensive workup and therapeutic trials failed to confirm the diagnosis of tuberculosis or sarcoidosis. Her 7-month brother and 4-year-old male cousin presented with nystagmus, poor vision, paravascular pigmentary changes and were initially diagnosed as recessive retinal dystrophy. The girl died at age 2 from tuberculous meningitis and the boys had recurrent tuberculous and Aspergillus infections. Awareness of the typical fundus findings in chronic granulomatous disease allows early diagnosis of the disorder.
 ...
PMID:Chronic granulomatous disease presenting as retinal mass. 1893 80

We report a case of acquired periodic alternating nystagmus associated with common variable immunodeficiency and cutaneous sarcoid. The patient was initially treated with baclofen with minimal subjective improvement. We found a significant improvement in the patient's symptoms and nystagmus intensity after treatment with memantine.
 ...
PMID:Treatment of acquired periodic alternating nystagmus with memantine: a case report. 1951 63

We report the case of a 42-year-old female with neurosarcoidosis who was hospitalized in year 2017 for gait disturbance. In 2011, she suddenly had vertigo that lasted for a few days. In 2013, she noticed left hemiplegia. A brain MRI revealed an acute infarction on the right side of the upper pons extending longitudinally from the ventral surface. In 2017, she again had left lower limb paralysis. A Brain MRI showed another infarction on the right side of the mid-pons. Hydrocephalus and brainstem atrophy were also noted. The patient was referred to our hospital. Upon neurological examination, she presented with down beat nystagmus, muscle weakness on the left side, and a broad-based spastic gait. CSF findings included an increased number of cells and protein levels with decreased glucose levels. A contrast-enhanced MRI revealed basilar meningitis causing hydrocephalus. A contrast CT scan revealed inguinal lymph node swelling, and scintigram found gallium accumulation. We diagnosed sarcoidosis via a lymph node biopsy. We speculate that chronic basilar meningitis obstructed the patient's branching penetrating arteries inducing infarction together with obstruction of the spinal fluid flow causing hydrocephalus and cerebral atrophy.
 ...
PMID:[A case of neurosarcoidosis with recurrent brainstem infarction, obstructive hydrocephalus and brainstem atrophy]. 2996 42