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)

We describe 3 children with a progressive encephalopathy that was characterised by irritability, convulsions, cranial nerve palsies, ataxia, nystagmus, walking difficulties, delayed psychomotor development, hemiplegia/tetraplegia, visual disturbance, vomiting, neck stiffness, and non-specific signs of raised intracranial pressure. A final diagnosis was made in all 3 patients from necropsy material. The clinical features were ascribed to multiple inflammatory, predominantly lymphocytic, reactions and raised intracranial pressure. This condition is an atypical form of haemophagocytic lymphohistiocytosis, which normally presents with fever, hepatosplenomegaly, and cytopenias. By contrast, the disease pattern in our 3 children was dominated by cerebromeningeal involvement, which can precede the typical systemic symptoms of haemophagocytic lymphohistiocytosis. An awareness of this condition is important because treatments are available.
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PMID:Cerebromeningeal haemophagocytic lymphohistiocytosis. 134 23

Ataxia is a common neurologic sign in childhood. Basilar impression due to bony abnormalities of the craniovertebral junction is an uncommon but readily treatable cause of ataxia in children. Two children who had neck stiffness, ataxia, nystagmus, and corticospinal tract signs are described. Basilar impression was recognized only after specific radiologic studies were performed. Both children were treated surgically with good results.
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PMID:Basilar impression in children. 650 29

Three cases of cystic neurinoma arising from the upper cervical spinal nerve roots and extending to the posterior cranial fossa through the foramen magnum were reported. Case 1 was a 52-year-old female presenting marked bilateral papilledema, hyperactive right knee jerk, left positive Gordon reflex and trunkal ataxia. The mass was mostly cystic and arose from the left 1st cervical nerve root. It extended to the posterior fossa, occupied the cerebello-medullary cistern and displaced the left cerebellar hemisphere posteriorly and superiorly. Case 2 was a 39-year-old male presenting marked bilateral papilledema, neck stiffness, dysfunction of the right 7, 9, 10 and 11th cranial nerves, gaze nystagmus, Horner's syndrome, right limb ataxia, and ataxic gait. The mass was totally cystic containing yellowish fluid and was growing from the right 2nd cervical spinal nerve root. The mass extended to the posterior cranial fossa up to the right cerebello-pontine angle and compressed the medulla oblongata, upper cervical cord and 7th through 11th cranial nerves on the right side. Case 3 was a 66-year-old male presenting marked bilateral papilledema, gaze nystagmus, left hemiparesis, bilateral hyperactive deep tendon reflexes, numbness of the left fingers and ataxic gait. CT scanning revealed in the midline of the posterior cranial fossa a low density mass which was enhanced in a ring-like fashion. Vertebral angiograms showed an avascular mass displacing the PICAs upwards and elongating its cranial loops antero-posteriorly. The mass was totally cystic, arose from the left 2nd cervical spinal nerve root, extended to the posterior cranial fossa and occupied the cisterna magna and vallecula. Foramen magnum syndrome was discussed and the symptoms and signs presented in these three cases were compared with those presented by foramen magnum meningioma in other reports.
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PMID:[Three cases of cystic neurinoma arising from the upper cervical nerve roots and extending into the posterior cranial fossa (author's transl)]. 732 70

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

A 17-year-old boy with high fever, headache, and neck stiffness was admitted to our hospital. Spinal fluid showed a protein level of 215 mg/dL with myelin basic protein (579 pg/mL), 347/ microl cells (330 mononuclear cells), and a glucose level of 53 mg/dL. One week later, urinary retention, flaccid paraplegia, and sensory disturbance below the 10th thoracic level developed. MRI of the spinal cord revealed swelling and T2-high intensity area in the cord at the 11th and 12th thoracic level. Although high-dose of methylprednisolone was administered, consciousness disturbance and respiratory failure that required mechanical ventilation occurred. Bilateral abducens nerve palsy, nystagmus, and flaccid tetraparesis also occurred. Brain MRI revealed T2-high intensity area in the midbrain and pons. Nerve conduction study showed diminished amplitudes and prolonged latencies or absence of F waves. The patient was administered a combination of intravenous immunoglobulin and a high-dose of methylprednisolone. He showed improvement within one week after the treatment. Two weeks later, he recovered from respiratory failure and weakness of the upper limbs. He remained paraplegic, but gradually improved and was able to walk with support one and a half years later. We suggest the combination therapy of intravenous immunoglobulin and a high-dose of methylprednisolone is effective for patients with combined ADEM and peripheral neuropathy.
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PMID:[A case of acute disseminated encephalomyelitis (ADEM) associated with peripheral neuropathy]. 1751 Dec 89