Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a screening program in Cincinnati urine specimens from over 20,000 infants and children were tested for inherited metabolic disorders involving amino acids, carbohydrates, phenolic acids, organic acids, keto acids, mucopolysaccharides, and imidazoles. The subjects were selected on the basis of symptoms such as vomiting, diarrhea, acidosis, seizures, failure to thrive, delayed development, mental retardation, and others. The tests were based primarily on paper chromatographic techniques. Patients with 21 different metabolic disorders were found. The patterns of abnormal excretion of amino acids and other metabolites are often useful in making a diagnosis.
 ...
PMID:Screening for metabolic disorders among high risk infants and children. 14 35

Chlorpromazine and fluphenazine decanoate were employed to treat aggressive behavior and emesis in a 22-year-old patient with Cornelia de Lange syndrome. Institution of the above neuroleptics, following an unsuccessful trial of diazepam, produced reductions of 95.1 per cent and 37.9 per cent for aggressive behavior and emesis, respectively. Four follow-up observations, occurring at 3-week intervals, revealed maintenance of low rates of aggressive behavior and continued reductions in emesis (mean reduction of 81.5 per cent). These findings are important for their a) inclusion of direct behavioral observation as the data base, and b) initial promising effects of neuroleptics for a rare mental retardation syndrome.
 ...
PMID:Pharmacological treatment of aggressive behavior and emesis in the Cornelia de Lange Syndrome. 51 49

Two siblings who were repeatedly admitted to hospital with acute episodes of vomiting, dehydration and coma were found to be suffering from isovaleric acidaemia. This condition is a rare inherited abnormality of leucine metabolism, which is frequently fatal in the early weeks of life and leads to mental retardation in a high proportion of those who survive early attacts. However, both our patients were of normal intelligence. The clinical presentation, biochemical defect, diagnosis and suggested therapies are reviewed.
 ...
PMID:Isovaleric acidaemia in two South African children. 88 34

We reported a clinical course and autopsy results of an 8-year-old severely handicapped girl with marked periventricular leukomalacia. She was well until 3 days prior to first admission in local hospital. Two days prior to admission, she began to vomit. Twelve hours later, she was noted to be lethargic and developed malaise with frequent vomiting. At physical examination on admission, she had frequent fits and her posture was decerebrate rigidity. Consciousness disturbance continued for two weeks. Thereafter, she became severely handicapped with spastic quadriplegia, mental retardation and intractable epilepsy. She was transferred to our hospital one month later. We cared her totally and carefully with our rehabilitation staff, but during her course several rare happening occurred; she suffered from subdural hemorrhage due to hypocupremia and received an operation for the release of contracture of her hips. She died of acute cardio-respiratory failure at 8 years and 5 months of age. Her autopsy findings were characteristic of the damage to an immature brain during development; cactus formation of cerebellar cortex and periventricular leukomalacia.
 ...
PMID:[A clinical course and autopsy results of an 8-year-old severely handicapped girl with marked periventricular leukomalacia]. 138 94

A case of adult Moyamoya disease, with formation of a transcranial external carotid-internal carotid (EC-IC) anastomosis through burr holes which had been made previously. A 43-year-old male suffered sudden headache and vomiting. Neurological examination revealed mild consciousness disturbance and dysarthria. The computed tomography (CT) scans showed intraventricular hemorrhage, which was drained through burr holes bifrontally. The diagnosis of Moyamoya disease was subsequently made by cerebral angiography. A month later he was discharged with mild gait disturbance and mental retardation. Seven years later he suddenly complained of gait disturbance, dysarthria and sensory disturbance involving the right upper extremity. A CT scan revealed a small hemorrhage in the left putamen. Carotid angiograms disclosed transcranial EC-IC anastomosis through the burr holes which had been made previously. It is suggested that revascularization can be expected after opening burr holes and incising the dura matter for Moyamoya disease in adults as well as, possibly, in children.
 ...
PMID:[Adult moyamoya disease with a transcranial internal carotid-external carotid (EC-IC) anastomosis through burr holes]. 237 49

Gastric volvulus is a rare condition in childhood. Most of the reported cases have been acute and secondary in type with predisposing factors. Between 1965 and 1988, 49 patients were treated at this institution for chronic idiopathic gastric volvulus. Patients were divided further into two groups according to age at admission. The main symptom was vomiting in the neonatal and infantile group, whereas it was abdominal distension, vomiting, weight loss, or constipation in the older age group. This clinical feature was different from that of acute gastric volvulus in which the symptoms resulted from gastric obstruction. Plain film of the abdomen showed no characteristic findings. Contrast study of upper gastrointestinal series showed findings similar to those of the acute volvulus, but the extent or degree was less significant. Conservative treatment was successfully undertaken for the patients in the neonatal and infantile group just by keeping them in prone position. The rationale for this method was demonstrated by the clinical and radiological improvement. Fundic gastropexy was performed in all of 18 patients of the older age group and in one of 31 patients of the neonatal and infantile group. The operative results were satisfactory except for one patient with mental retardation. In Japan, neonates or infants are customarily nursed in the supine position. This is presumed to be a reason why the chronic idiopathic gastric volvulus is frequently noticed.
 ...
PMID:Idiopathic gastric volvulus in infancy and childhood. 238 Aug 84

We report a 9 year-old boy with MELAS. High dosed oral thiamine administration and high fat diet induced remarkable neurological and biochemical improvement. His mother had episodic headaches and hemiplegia, probably MELAS. He complained muscle weakness and repeated episodes of vomiting started from 2 years of age. High levels of serum lactate and pyruvate were recognized, but with no metabolic acidosis. He developed generalized muscle weakness, growth retardation, generalized convulsions and stroke-like episodes at 5 years old. Optic nerve atrophy and mental retardation gradually appeared. A muscle biopsy at 5 years old revealed numerous ragged-red fibers with excess accumulation of lipid droplets and glycogen particles. Scattered fibers had no cytochrome c oxidase (CCO) activity representing focal CCO deficiency. An electron microscopy showed markedly increased number of giant mitochondria filled with markedly proliferated complicated cristae. Pyruvate dehydrogenase complex level in the fibroblasts was within normal ranges. Serum carnitine level was normal. With oral administration of thiamine hydrochloride (1000 mg) and high fat diet (60-70%), muscle weakness improved, and lactate and pyruvate levels in the serum reduced to normal ranges, whereas the mental deterioration, muscle atrophy, pes cavus progressed very slowly. He died from cardiac and renal failures at 9 years old. Autopsied muscles showed a marked decrease in cytochrome c oxidase activity (biochemically 12.8% of the normal level), and almost all muscle fibers had no cytochrome c oxidase activity histochemically. The progression of the MELAS was probably in parallel with the decrease in CCO activity.
 ...
PMID:[A case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with progressive cytochrome c oxidase deficiency]. 255 13

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%).
 ...
PMID:Japanese encephalitis in children in northern Thailand. 256 17

Dysfunction of the upper esophageal sphincter was found in five out of 44 children with gastroesophageal reflux. Three of the five children had mental retardation associated with Silver Russell syndrome, 5p syndrome, or minimal change myopathy. The five patients had swallowing disorders, vomiting, and failure to thrive; four also had pulmonary aspiration. Esophageal manometry showed incomplete upper esophageal sphincter relaxation in two patients, upper esophageal sphincter relaxation incoordinated with pharyngeal contractions in two other patients, and both incomplete and incoordinated upper esophageal sphincter relaxation in the last patient. Intensive and successful treatment of gastroesophageal reflux did not improve swallowing or symptoms of pulmonary aspiration in four children. The fifth patient underwent cricopharyngeal myotomy, with complete resolution of respiratory and swallowing symptoms. It is suggested that a dysfunction of the upper esophageal sphincter, either primary or secondary to neuromuscular disorders, may play a role in the swallowing disorders and respiratory symptoms of pediatric patients.
 ...
PMID:Disorders of upper esophageal sphincter motility in children. 368 74

It is well known that intraventricular tumors are occasionally seen in patients with tuberous sclerosis. We have experienced two cases of tuberous sclerosis with intraventricular tumor. Case 1: an 8-year-old girl was admitted to our clinic because of headache and vomiting of one month's duration. She had adenoma sebaceum, mental retardation and seizures clinically, and a large tumor was found in the right lateral ventricle by pneumoventriculography. Partial removal of the tumor was performed by the right frontal transcortical approach, but she later died of pneumonia. Necropsy revealed hamartomatous disease characterized by multiple focal tumor-like malformations in various organs including the brain, kidneys, heart, lungs and liver. The histological diagnosis of the intraventricular tumor was subependymal giant cell astrocytoma. Case 2: a 6-year-old boy was admitted to our clinic because of headache of one year's duration. He had also suffered from seizures since 6 months of age. Adenoma sebaceum was noted in the cheeks. CT revealed a medium sized tumor at the right foramen of Monro and the moderately dilated right lateral ventricle and several calcified deposits in the lateral ventricle wall. The tumor was subtotally removed by the right frontal transcortical approach. The pathological examination showed subependymal giant cell astrocytoma. Now 6 years after the operation he is enjoying a normal school life. In our cases, intraventricular tumors associated with tuberous sclerosis were of a typically benign histological appearance, that is subependymal giant cell astrocytoma.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Tuberous sclerosis with intraventricular tumor: report of 2 cases]. 380 99


1 2 3 4 5 6 7 Next >>