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

Behr's syndrome consists of recessively inherited infantile optic atrophy, together with chronic neurological disturbances such as ataxia, extrapyramidal dysfunction, and juvenile spastic paresis. This syndrome was found to be relatively common among Iraqi Jews. For our study, 18 such patients underwent metabolic study. All 18 showed abnormally elevated excretion of 3-methylglutaconic acid in their urine. The basic enzymatic defect is as yet unknown. We recommend that patients with early optic atrophy, and especially those with motor dysfunction, be examined for this organic aciduria.
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PMID:3-Methylglutaconic aciduria in "optic atrophy plus". 849 28

Here we report eight consecutive patients with intracranial neoplasm at different ages clinically presenting with acute esotropia. Among these patients, two had divergent paresis, four had bilateral abducens paresis and the other two had unilateral abducens nerve paresis. All of these patients have intracranial neoplasm demonstrated by neuroimaging studies. Besides of acute esotropia, four had papilledema, one had optic atrophy, and three had associated other neurological signs. Of the eight patients, three patients are children, and the other five are adults. In the adult group, four patients are less than 45 years old. In conclusion, acute esotropia may be an early presenting sign of brain tumor and careful evaluation of associated clinical symptoms/signs is mandatory, especially in the young age group.
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PMID:Acute esotropia may be a presenting sign of intracranial neoplasm. 983 67

Hereditary optic atrophy is a significant cause of optic atrophy in children. We report two male siblings who suffered profound irreversible loss of vision over a 2-month period. Neither patient had any prior ophthalmic problems. Both siblings had a metabolic disorder characterized by transient episodes of ataxia and paresis, whereas in one brother a slight increase of lactate in blood and cerebrospinal fluid was detected during an acute episode. Respiratory chain defect in complex I was confirmed in one patient.
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PMID:Two cases of hereditary optic atrophy associated with an enzymatic defect of the respiratory chain. 1154 82

This study reported on 53 cases of neurosyphilis which were seen in the Dermatovenerology Department of the Ibn Rochd University Hospital Center in Casablanca from January 1983 to December 1988. The classification was as follows: 26 general paresis, 8 tables, 6 myelitis and cerebral syphilitic arteritis, 7 optic atrophy, 2 early syphilitic meningoencephalitis, 2 unclassifiable forms, and 1 asymptomatic neurosyphilis. A history of syphilis was found in 43 or 3% of the cases. Patients ranged in age from 22 to 61 years, with an average of 40.8 years. There was a clear predominance of males (81.1%). All of the patients were negative for HIV. The diagnosis of neurosyphilis was highlighted along with the clinical manifestations associated with a positive serology (VDRL, TPHA) in the serum and the cerebrospinal fluid (CSF). There was a pleocytosis of CSF in 52.8% of the cases and increased CSF protein in 35.8% of the cases. Treatment consisted of intravenous aqueous penicillin G in 52 patients with a follow up of between 2-66 months. Improvement of lesions was noted in 48% of the cases and sequelae were definitive in 50% of the cases. 1 patient (2% of the cases) died. (author's modified)
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PMID:[Neurosyphilis: 53 cases]. 1231 17

The authors describe the case of bilateral optic nerve sheath meningioma /ONSM/ in 14 years old girl. When being hospitalized at the Neurology Clinic with paresis n.VII, the patient was examined by ophthalmologist. The diagnosis was made on the basis of clinical and characteristic changes revealed by USG, CT and MRI. The very first ophthalmologic examination confirmed a visual acuity 5/5 OD and hand movements OS, associated with papilloedema OD and edematous optic atrophy OS. The use of USG, CT and MRI revealed bilateral tubular thickening of the optic nerves (8mm), with calcification. After the period of one year, clinical progression was observed. The intracranial tumor extended. It was shown in diagnostic imaging. The patient was operated on by neurosurgeons with histopathology verification. In the later stage she underwent radiotherapy. The case has been described because of its diagnostic and therapeutic difficulties.
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PMID:[Bilateral optic nerve sheath meningioma (ONSM) --diagnostic and therapeutic problems]. 1701 96

There have been no serial studies about neuroradiological findings of neurosyphilis in the literature. There have been only case reports concerning HIV negative patients with neurosyphilis. We present 8 HIV negative neurosyphilis patients two of whom are women. The mean age of the patients was 48 years+/-12.37. Five of the 8 patients had general paresis, two optic atrophy and one multiple cranial neuropathies. The CSF findings were quite similar in 6 of 8 patients. In half of the patients cranial MRI showed mild cerebral atrophy. Nonspecific hyperintense small foci in 3 patients are thought to be related to syphilis. Hyperintensity involving bilateral medial and anterior temporal regions more prominent on the left side was seen in one of the patients with general paresis. This finding may be due to cytotoxic edema associated with status epilepticus and may mimic herpes simplex and other limbic encephalitides. Though not typical, certain MRI findings guides for the diagnosis of neurosyphilis.
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PMID:Clinical and magnetic resonance imaging findings of HIV-negative patients with neurosyphilis. 1734 38

The congenital retinocephalic facial vascular malformation syndrome is characterized by unilateral, nonhereditary retinal and cerebral arteriovenous malformations (AVMs) and is occasionally associated with orbital vascular changes. Typical signs are facial and oral mucosal vascular changes, rarely with changes of the maxilla or mandible. An AVM causes high blood flow because of direct connection (shunting) of major vessels without interposition of capillaries. Ocular complications include retinal and vitreous hemorrhages, edema, venous occlusion (risk of rubeosis iridis and secondary glaucoma). Neuroophthalmological changes comprise optic atrophy, papilledema, proptosis, pupillary changes, hemianopia, gaze paresis, nystagmus, cranial nerve palsies, strabismus, and amblyopia. Neurological complications include headache, subarachnoid hemorrhage, convulsions, cerebral hemorrhages, increased intracranial pressure, hydrocephalus, and stroke with hemiparesis. Threatening oral hemorrhages or epistaxis may rarely occur.
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PMID:[Congenital retinocephalic facial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome]. 1915 63

In contrast to the recommendations of the International Liga against Epilepsy, many hospitals perform routinely complete ophthalmological examinations in children admitted after a first seizure. As there is no study available to date to prove the benefit of complete eye examinations in first seizure diagnosis, we conducted a study to analyse the value of a complete ophthalmological examination. All children aged 1 month to 18 years who were admitted to the children's university hospital of Leipzig with the clinical diagnosis of a first convulsive or non-convulsive afebrile seizure between 1999 and August 2005 were investigated. All children who had obtained a complete ophthalmological examination within 72 h after the seizure were included in the observational study. A total of 310 children were analysed in the study. Two hundred thirty patients had a tonic-clonic afebrile seizure, the others focal, complex-partial seizures or absences. Two hundred seven out of 310 children showed no ophthalmological pathologies. Eighty-three children had refraction anomalies or strabism, 18 children had optic atrophy, three had congenital eye muscle paresis, and three had malformations. A 16-year-old girl had a homonymous quadrantanopia due to an occipital glioglioma that caused the seizure. An 11-year-old girl had a retinal haemorrhage without any brain lesions after a fall caused by a first tonic-clonic seizure. None of the ophthalmological findings influenced directly the immediate clinical course of diagnosis and treatment of the seizure. Our data suggest that routine ophthalmological examination in all children does not have additional benefit in the first seizure diagnosis management.
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PMID:Is there a need for ophthalmological examinations after a first seizure in paediatric patients? 1927 Dec 36

A 20-year-old man had progressive headache, neck pain and visual loss after upper airway infection. After 3 weeks, he developed ophtalmoplegia, ataxia, areflexia, autonomic failure, four limbs paresis with impaired consciousness. Brain and cervical MRI were normal. Ophthalmological examination confirmed bilateral papilledema. Cerebro-spinal fluid pressure was high, cell count was normal and proteins were mildly elevated. Electromyography showed presence of both proximal and distal demyelination. Electroencephalogram was slowed, with diffuse delta and theta waves. Anti-GM1 and GQ1b antibodies were negative. The patient was treated with intravenous immunoglobulins (0.4 g/kg/day) for 5 days, associated with high doses of acetazolamide and corticosteroids for papilledema. His neurological condition improved for gait, strength, pain, ophtalmoplegia and ataxia. He kept severe visual loss with optic atrophy. Diagnosis is discussed: Bickerstaff encephalitis with intracranial hypertension or malignant pseudotumor cerebri?
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PMID:[Clinical presentation suggesting Bickerstaff encephalitis and intracranial hypertension]. 2072 13

Subacute sclerosing panencephalitis is a rare disease of central nervous system caused by defective measles virus. Chorioretinitis with macular involvement is the mostly observed ocular finding in the disease. Other reported ocular findings in the disease are cortical blindness, hemianopsia, nystagmus, extraocular muscle paresis and optic atrophy. We present a rare case of subacute sclerosing panencephalitis with isolated bilateral optic neuritis as the only ocular finding without macular involvement.
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PMID:Bilateral optic neuritis--the only ocular finding in a case of subacute sclerosing panencephalitis. 2406 31


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