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)

A 55-year-old man first noted a swelling on his back in September 1990, when CT scan of his chest suggested a pleural fistula and a cold abscess. In the following month, he became pyrexial and felt nauseated with headache. Subsequently he was transferred to our hospital. Results of neurological examination were abnormal only in that he had neck stiffness and bilateral nystagmus with drowsiness. Cerebrospinal fluid (CSF) showed turbid yellowish fluid with an opening pressure of 360 mmH2O, a protein content of 173 mg/dl, a glucose level of 19 mg/dl, and a white blood cell count of 3,024/ml (75% polymorphs, 25% lymphocytes). Tryptophane test was positive. No bacteria, fungi or acid-fast bacilli were seen on direct smear. Adenosine deaminase activity in CSF was 13.9 IU/l. Antibiotics, antituberculous drugs, corticosteroids and glycerol were administered. The clinical course in the hospital was satisfactory for the next two months, but a contrast enhanced CT scan showed prominent enhancement in the left choroid plexus, and MRI revealed another mass in the subarachnoidal space under the right frontal lobe. An open biopsy was done on the massive lesion in the frontal lobe. Macroscopically, this lesion was an encapsulated granulomatous one. On the other hand, there were groups of epitheloid cells with micronecrosis in their centers microscopically. These findings were compatible with tuberculoma, in spite of the absence of acid-fast bacilli or caseous necrosis. Medication was intensively continued: a follow-up CT showed gradual reduction of the choroid plexus lesion and shrinkage of the left lateral ventricle.
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PMID:[A case of tuberculous meningitis with abnormal contrast enhancement of choroid plexus on CT and MRI]. 829 13

Defects in adenosine deaminase enzyme cause severe immunodeficiency. Without enzyme replacement or allogeneic bone marrow transplantation, patients often suffer fatal infection in infancy. Adenosine deaminase is expressed ubiquitously; deficiency may affect various organs, including the brain. Neurologic abnormalities occur in some adenosine deaminase-deficient patients, mostly in association with infection or after bone marrow transplantation. Three cases with significant neurologic abnormalities, including hypotonia, head lag, nystagmus, difficulty in focusing gaze, seizure disorder, and moderate-severe developmental delay but with no evidence of infection or transplant-related medication toxicity are presented. Computed tomographic scans and cranial MRI revealed volume loss and abnormalities of basal ganglia and thalamus, which may reflect accelerated nerve cell death or altered stimulation of adenosine receptors. Detailed neurologic and neuroimaging evaluation should be performed for all patients with adenosine deaminase deficiency upon diagnosis, to identify potentially significant brain lesions.
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PMID:Neurologic abnormalities in patients with adenosine deaminase deficiency. 1776 13