Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients aged 17 and 25 years with Kearns syndrome are described. This condition is characterized by the triad of chronic progressive external ophthalmoplegia, pigmentary degeneration of of the retina and cardiac conduction defects. A review of the literature reveals frequent association with other symptoms, mainly cerebellar ataxia, neurosensory hearing loss, small stature, muscle weakness, mental retardation or dementia and endocrine disturbances. In skeletal and extraocular muscle biopsies, abnormalities of mitochondria, at present of unknown significance, have been found. CSF protein is almost always increased. The etiology of this multisystem disorder remains obscure. The 58 published cases have been sporadic, with no evidence of hereditary transmission. The prognosis seems mainly to depend on the progressive cardiac conduction defects, since several patients have already died in the second or third decade due to heart block. Patients with progressive external ophthalmoplegia should be investigated for Kearns syndrome. If appropriate, implantation of a cardiac pacemaker should be considered.
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PMID:[Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders]. 59 31

The case of five-year old boy is reported who at the age of 18 months had successfully been operated upon for neuroblastoma and who had subsequently signs of cerebellar encephalopathy. The paraneoplastic conditions of childhood are discussed in connection with the reported case. Opsoclonus was not observed in the patient, and symptoms showed rapid improvement on methotrexate, carmustine and CCNU treatment. Six months later the child was free of neurological disturbances and only displayed a slight mental retardation (IQ: 88). Cytological alterations observed in the CSF during the cerebellar encephalopathy are described in detail. At present, 41 months after the operation the child is well and free of symptoms.
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PMID:Paraneoplastic syndrome in childhood. 60 50

Histidinemia was found in 3 of 4 siblings in one family, while a fatal encephalopathy with mental retardation was present in two of them and in the fourth child who did not have histidinemia. Biochemical studies of the histidinemic subjects showed elevated histidine levels in urine, CSF, and brain, while in a few urine samples histidine related imidazole compounds were found. Plasma levels of other amino acids were positively correlated with plasma histidine levels. Obesity and heart abnormalities appeared to be associated with the encephalopathy, which is probably of a new type. The histidinemia appears to be unrelated to the mental retardation or the encephalopathy in this family.
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PMID:Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies. 61 85

Forty-three patients with vein of Galen aneurysmal malformations (VGAM) referred to us for endovascular treatment between 1985 and 1990 and 335 additional cases published in the literature were reviewed with particular attention to the presence of ventricular enlargement and outcome after shunting. Hydrocephalus was the second most frequent symptom (46.8%); it is more frequent in infants (73%) than in children, adults (30%) or neonates (15%). Of the patients reported in the literature, 17.9% had undergone shunting. Within the shunted population there was an overall morbidity of 41% and a mortality of 10% (especially in the infant group). In our series 17 patients (39.5%) were shunted and a significant difference in the clinical outcome was noted between the shunted and the nonshunted group. Of the nonshunted patients, 66.6% were free of any neurological deficit or mental retardation and fewer than 5% presented with significant mental retardation. On the other hand, only 33.3% of the shunted patients had a favorable outcome and more than 15% developed significant mental retardation. Among the various causes of hydrocephalus in patients with VGAMs, such as obstruction of the aqueduct, subarachnoid hemorrhage, or ex vacuo hydrocephalus, high venous pressure may be of particular importance. In this article a physiopathological interpretation of the hydrodynamics in VGAMs is developed and a speculative explanation for CSF disorders related to ventricular shunting proposed. Treatment of hydrocephalus in VGAMs can be achieved through obliteration of the malformation or at least diminishing the venous pressure; surgical ventricular shunting does not have to be the first treatment of hydrodynamic disorders associated with VGAMs, especially in infants.
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PMID:Hydrodynamics in vein of Galen malformations. 161 8

To evaluate the correlation of clinical symptoms and deletion of mitochondrial DNA (mtDNA) in CPEO, we examined brain MRI, lower limb SSEP and mtDNA in 19 patients (nine men, ten women) with CPEO averaging 44.9 years of age. Of these patients, three had typical Kearns-Sayre syndrome (KSS) as defined by the presence of the invariable triad of CPEO, retinitis pigmentosa and an onset before the age of 20, as well as at least one of the followings: heart conduction block, cerebellar ataxia and elevated CSF protein. One patient was diagnosed as having probable KSS because the symptoms had begun at the age of 33. All patients with typical and probable KSS had one or more of the following common manifestations: mental retardation or dementia, hearing loss, short stature, and endocrinological disorder. All other 15 patients had ocular myopathy with limb muscle weakness. Total DNA was isolated from 19 biopsied muscles, and analyzed by the methods of Southern blot hybridization and PCR. Thirteen patients has heteroplasmy with the deleted and normal mtDNA, and six patients who had ocular myopathy did not have mtDNA deletion. The age of onset in the patients with mtDNA deletion averaged 23.0 years of age, while that without mtDNA deletion averaged 39 years of age. All KSS and two ocular myopathy patients shared the common site in mtDNA deletion, while nine with ocular myopathy showed the different sizes of deletion ranging from 2.3 to 9.5 kb in the different sites. Brain MRI was obtained from 12 of the 19 patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Chronic progressive external ophthalmoplegia (CPEO); mitochondrial DNA deletion, brain MRI and electrophysiological studies]. 176 62

This is a study of 6 patients of cloverleaf skull (CLS) who were treated between 1980 and 1988. All of them had mild to severe degree of craniofacial dysostosis of Crouzon type with variable degrees of exorbitism (pseudoexophthalmus), raised intracranial pressure and mental retardation. All except one patient had maternal H O fever and/or drug intake during the first trimester or toxaemia of pregnancy. The skull X-ray showed typical CLS with expanded middle cranial fossa, foreshortened anterior and posterior fossae and honey-comb appearance in the occiput. Preoperative CT scan revealed generalized hydrocephalus in older patients but only cystic dilatation of the temporal horns in younger infants. The best treatment results were observed in the youngest infant, 7 weeks old, following morcellation cranioplasty, duroplasty, orbital decompression and delayed V.P. Shunt. Fronto-orbital advancement procedure gave satisfactory results in older infants except in those with severe craniofacial stenosis. A delayed CSF shunt is only indicated for progressive postoperative hydrocephalus. Immediate survival was 100% and late 50%. The deaths were due to complications of hydrocephalus. Survival was better in those having less severe Crouzon Syndrome irrespective of the type of surgical treatment. However, timely CSF shunt surgery played an important role in the long term survival, improvement of I.Q., and ultimate shape of head. The study suggests that CLS is a severe malformation of Crouzons disease due to teratogenic damage in the first trimester of pregnancy causing developmental aberration of primary mesenchyme of the neurocranial capsule and base of the skull. The cystic dilatation of the temporal horns is the earliest sign of hydrocephalus and occurs secondary to disturbed growth of the cerebral capsule.
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PMID:Cloverleaf skull--a severe form of Crouzon's syndrome: a new concept in aetiology. 205 26

We studied a case of Lesch-Nyhan syndrome with delayed onset of self-mutilation. Athetotic cerebral palsy and mental retardation were diagnosed at 1 year old, but the disease was not suspected until age 8 years when he began biting his lips and fingers. There was no obvious alteration of catecholamine in urine and CSF. We attempted to induce a series of blink reflexes by electric, mechanical and photic procedures. The R1 amplitude increased and the latency of the R2 shortened compared with controls. This shows that not only orbicularis motoneuron itself, but also uncrossed interneurons, are in a state of hyperexcitability. The contralateral R2 was poor which was in favour of hypoexcitability of the crossed interneurons at the brainstem. The significant large response was obtained by photic procedure which was in favour of hyperexcitability of the motoneurons. Therefore, it is demonstrated that a thorough examination of blink reflexes provides a useful method for examination of a state of the underlying neural activity.
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PMID:Lesch-Nyhan syndrome with delayed onset of self-mutilation: hyperactivity of interneurons at the brainstem and blink reflex. 232 43

Serum carnosinase deficiency with carnosinuria has been reported in 23 children with neurological signs and/or mental retardation. In adults four cases in one family had serum carnosinase deficiency, carnosinuria, and in addition elevated homocarnosine in CSF and in the brain. The mother was one of these cases but had no clinical symptoms; however her three children have spastic paraparesis, retinitis pigmentosa and mental retardation. Serum carnosinase deficiency alone is not the cause of the neurological symptoms. When two of the affected children consumed carnosine, anserine or homocarnosine, they metabolized these compounds much less rapidly than did two normal control individuals.
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PMID:Inborn errors of carnosine and homocarnosine metabolism. 235 6

We reported a case of mitochondrial encephalomyopathy with repeated stroke-like episodes. A 33-year-old single male was admitted to our hospital because of stroke-like episodes with visual field defect, hemiplegia and convulsion repeated seven times for the past seven years. There were no abnormalities on the physical examination. He was hallucinative and perseverative and had mental deficiency. Muscle weakness and atrophy were not prominent, and generalized hyporeflexia were present without pathological reflexes. Myoclonus was not observed. Serum CK and blood gas analysis were normal (pH 7.398). Although blood levels of lactate and pyruvate were almost within normal limit, lactate was elevated by 20WATT-15 minutes exercises. On the contrary, the CSF levels of lactate and pyruvate were elevated markedly. CT of the brain revealed the presence of the low density areas in the right occipital and the left frontal lobes. Cranial 4 vessels studies were unremarkable. EEG showed the diffuse slowness with spike and wave complex. CT of the muscles were normal. A specimen obtained from the left biceps brachii muscle showed ragged-red fibers without obvious myogenic or neurogenic changes, and accumulations of abnormal mitochondria with paracrystalline inclusion bodies were observed by electron microscopy. However, mitochondrial abnormalities were not seen in the vessel walls in the biopsied muscle. Activities of complex I + III, II + III, IV in mitochondria were normal. Clinical features of this case were consistent with MELAS. However, this case showed no muscle weakness, short stature and lactic acidosis which characterize MELAS, and the onset of this case was later than those cases that were reported before.
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PMID:[A case of mitochondrial encephalomyopathy characterized by repeated stroke-like episodes]. 250 53

Fifty-nine children with Japanese encephalitis admitted in Maharaj Nakhon Chiang Mai Hospital since 1984-1985 were studied. The male to female ratio was 1.18:1. The age range was between 1 to 14 years old with 74% in the age range of 6-14 years. The symptoms included change of consciousness (100%), fever (96%), headache (76%), convulsions (59%) and vomiting (52%). The neurologic signs, namely positive meningeal signs (61%), hyperreflexia (61%), positive Babinski's sign (49%) hemiplegia (42%), papilledema (22%), and other cranial nerve palsies (23%) were seen. Abnormal respiration were found in 23% and 8% of cases had hypertension. Most children (81%) had blood leukocytosis with predominant neutrophils. The average CSF white blood cell count was 200 cells per mm. with lymphocytosis in 76 percent of the patients. The average CSF protein was higher than normal. Almost all cases had normal CSF sugar levels. The JEV antibody response, mostly primary type, Occurred in about 62 percent of cases. All children received symptomatic and supportive treatment, such as antipyretics, anticonvulsants, anticerebral edema agents, adequate respiration and nutrition and physical and occupational therapies. Associated complications were treated according to the individual's need. The mortality rate and neurological sequelae were found in 17% and 57% of cases respectively. Eighteen percent of the patients suffered severe neurological sequelae. The neurological sequelae included memory deficit (46%), mental retardation (42%), hemiplegia (34%), emotional and behavioral disturbance (24%), epilepsy (20%), motor aphasia (16%), cranial nerve palsies (16%), involuntary limb movement (8%) and blindness (2%).
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PMID:Japanese encephalitis in children in northern Thailand. 256 17


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