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

Alagille's syndrome or arteriohepatic dysplasia has been described in Cuba in nine patients between nine months and 12 years of age (8 males and one female). Among the clinical features we found five major abnormalities: chronic cholestasis with neonatal jaundice (9/9), peculiar facies (9/9), peripheral pulmonary artery hypoplasia associated with cardiac murmur (6/9), butter-fly-like arch defects (4/9), and posterior embryotoxon (6/7). Two children had a severe xanthomatosis. Laparoscopy showed green hepatomegaly depending on the degree of cholestasis, and only one patient had incipient signs of micronodular cirrhosis. Liver histology showed a paucity of interlobular bile ducts. Survival was of 60%. One patient survived more than 30 years. Four patients died of liver carcinoma (unique report in infants), broncho-pneumonia, acute renal failure, and sudden death respectively. Among the minor features were mental retardation (5/9), a peculiar voice (3/9), growth retardation observed in some of our patients. This is the first report on Alagille's syndrome in Latin America, because so far reports have come only from Europe and North America.
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PMID:[Alagille's syndrome in Cuba. A report of 9 cases]. 134 Aug 42

One of the disabilities in patients with cerebral palsy (CP) is dysphagia. To establish the prevalence of dysphagia in a population of children with CP, and to determine if any factors are related to dysphagia, we studied 56 CP patients, 5-21 years, enrolled in a primary school for the disabled. Fifteen patients (27%) had either radiographic or clinical evidence of dysphagia. These 15 patients were compared to the remaining 41 patients without dysphagia. Using data obtained from chart review and interviews with speech pathologists, several factors that contributed to dysphagia were found. These included: bite reflexes, slowness of oral intake, poor trunk control, inability to feed independently, anticonvulsant medication, coughing with meals, choking, and pneumonia. We also noted trends in the following factors: presence of tongue thrusting, presence of drooling, severity of CP, poor head control, severity of mental retardation, seizures, and speech disorders. Factors not related to the presence of dysphagia include: subject age, cause of CP, and type of CP. Early, aggressive work-up and identification in CP patients with the risk factors outlined above can reduce the associated pulmonary complications.
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PMID:Swallowing disorders in a population of children with cerebral palsy. 139 5

A 13-year-old girl with Fahr disease (infantile form) was reported. Her parents were consanguineous. Her elder sister had mental retardation and spasticity of the lower limbs, and died at 23 years of age. The patient suffered from infantile spasms at 3 month. She was bed-ridden, nonverbal, microcephalic and blind. Cranial CT revealed massive calcifications in the basal ganglia, periventricular white matter, dentate nucleus and cerebellar white matter. EEG showed a suppression-burst pattern. At 13 years, she died of pneumonia and hyperammonemia. Microscopic examination of brain showed perivascular non-arteriosclerotic ferro-calcinosis. The periventricular granules are 1-4 mu or 12 mu in diameter. This pathological change was observed only in the central nervous system above midbrain. No calcifications were found in the pituitary and the vessels of pia mater. Also a reduced ornithine transcarbamylase activity was found in the liver, which was probably not related with cerebral calcifications. Infantile form of Fahr disease is rare and may be heterogeneous in etiology. However, clinical manifestations and pathological findings were similar to those in previous reports of Fahr disease in childhood. It is one of the disorders causing infantile spasms.
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PMID:[An autopsy case of Fahr disease (infantile form)]. 152 May 12

A new, Swedish case with Tay or IBIDS syndrome is presented. The boy had growth and mental retardation, congenital ichthyosis and brittle hair. He was the only child in an uncle-niece marriage. The boy suffered recurrent infections and died at the age of 3 years from pneumonia. Clinical data on 15 cases are presented from a study of the literature.
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PMID:Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair. 178 99

A boy with linear sebaceous nevus syndrome was followed up to 3 years of age, at which time he died of pneumonia. The lesions of nevus sebaceus were located in the midline and on both sides of the face, and there were partial colobomata of the right outer canthus continuous with pseudopterygium and of the left upper eyelid. At 2 months of age, the patient developed infantile spasms. At 1 year, electroencephalography revealed hypsarrhythmia, and left carotid angiography showed an arteriovenous malformation. At 2 years, the mental retardation and delayed motor development were detected.
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PMID:Linear sebaceous nevus syndrome. 226 82

A systematic investigation of morbidity patterns was conducted in 1977- 80 among 2580 children under 12 years of age attending mobile hospital camps in 4 districts on India's Hamachal Pradesh. The children came from remote villages where socioeconomic and educational levels were low and environmental sanitation was rudimentary. There were 1301 cases of protein energy malnutrition in this group, 124 involving children 0-1 year of age, 514 in the 1-5-year age group, and 663 (51%) in the 5-12- year age group. At the time of examination, 287 of the children were infested with worms and 125 had diarrhea. These 3 conditions-- malnutrition, worm infestation, and diarrhea--were present in 32% of the village children surveyed. The most common form of morbidity was nutritional disorders (malnutrition, anemia, and vitamin deficiencies), affecting 70% of the children. The next most common condition was respiratory infection, affecting 35%. Other disorders affecting significant numbers of children were scabies, pyoderma, convulsions, mental retardation, rheumatic fever and congenital heart diseases, and renal diseases. Morbidity from conditions such as gastroenteritis, measles, and pneumonia was often accompanied by malnutrition. Thus, there is a need in this area for child health programs aimed at providing nutrition education as well as improving immunization coverage.
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PMID:Childhood morbidity in mobile hospital camps in Himachal Pradesh. 262 Sep 84

Two patients who had cerebral aspergillosis with massive intracerebral hemorrhage were presented. Case I was a 59-year-old woman who had slight mental retardation. There was swelling in the left forehead, from which mucosal cysts of frontal sinus had been removed 2 years before her admission. She had a diagnosis of subdural abscess and radical operation was performed. Aspergillus was found in the abscess histologically. Three months after the operation, CT scan revealed multiple abscess in bilateral frontal lobe. When she lost consciousness suddenly 4 months after the operation, CT scan showed a huge intracerebral hematoma. Case 2 was a 16-year-old girl who suffered from immunological dysfunction caused by more than 6 months antibiotics-steroid treatment for pneumonitis. She lost her consciousness after complaints of severe headache. CT scan showed a heterogeneous high density area with severe brain edema in the left temporal lobe. The removal of hematoma was performed immediately. The level of her consciousness improved, but she died of the complication of DIC and renal failure 14 days after the hemorrhage. Autopsy revealed a number of aspergillomas in lungs, kidneys, gastrointestinal tract, liver and pancreas. Marked necrosis and a number of aspergillus hyphae which invaded and penetrated the wall of cerebral vessels were found in the brain tissue. It was presumed that such a huge intracerebral hematoma was caused by direct invasion and penetration into the brain of aspergillus from the blood vessels. The diagnosis of cerebral aspergillosis is made mainly by the pathological examination of the tissue obtained at surgery or autopsy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Two cases of cerebral aspergillosis with intracerebral hemorrhage]. 322 71

Analysis of mortality data based on underlying cause of death in epileptic patients is of limited value in view of the low case-fatality ratio of epilepsy. Recently the National Center for Health Statistics has made available all conditions mentioned on each death certificate for the entire US population. Using a case-control study design, we have analyzed all the associated conditions at the time of death in patients with epilepsy for the year 1978. Association between epilepsy and the following conditions reached statistical significance: mental retardation, cerebral palsy, cerebrovascular disease, myocardial ischemia, dementia, foreign body in pharynx and larynx, pneumonia, alcoholism and cirrhosis of liver. Early recognition and proper management of some of these factors could significantly reduce the mortality and morbidity in epileptic patients.
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PMID:Case-control study of associated conditions at the time of death in patients with epilepsy. 340 63

A child born to a phenylketonuric (PKU) woman not on dietary treatment was microcephalic and had congenital heart and other physical anomalies consistent with the maternal PKU syndrome. After a repeat cardiac catherization at 3 months of age, he suffered an embolic left cerebral infarct and seizures. He was found by his mother dead in bed at 4 months of age; general autopsy revealed Klebsiella sepsis and pneumonia. Neuropathologic studies of the right cerebral hemisphere showed neuronal loss of the third cortical layer; Golgi studies revealed persistently immature cortical pyramidal cell somata and dendritic spines. This is the first report of specific neuronal abnormalities in a child with the maternal PKU syndrome and may, in part, account for the clinical features of microcephaly, mental retardation, and seizures seen in affected children.
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PMID:Abnormal cerebral cortical neurons in a child with maternal PKU syndrome. 361 35

Ten cases of Lesch-Nyhan syndrome have been followed for 3-19 years (mean, 11 years and four months). Criteria of Lesch-Nyhan syndrome were restricted to the following: complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in hemolysate and fibroblast, spasticity, choreoathetosis, mental retardation, self-mutilation, and occurrence in males. Two patients have died of pneumonia and two died suddenly. However, autopsies produced no positive findings. Hyperuricemia has been controlled by benzbromarone in nine patients. One patient did not take any medical treatment and died suddenly when he was 19 years old, but showed no gouty signs. Patients with Lesch-Nyhan syndrome indicated no change or aggravation of choreoathetosis or spasticity. Self-mutilation was difficult to control by any treatment with continuing effect. After the age of ten, self-mutilation declined in seven cases, and in one patient disappeared completely. Mental delay was remarkable and suspected developmental age (DA) was 7 months - four years and 10 months (chronological age, 7 years and five months - 19 years and 6 months). Mean DQ score was 15.6. Physical development was severely delayed, and weight age was 28.9-46.4%, mean 37.4% of chronological age. Future investigations will evolve clarification of CNS signs and its treatment, and etiological research of sudden death.
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PMID:Long-term follow-up of ten patients with Lesch-Nyhan syndrome. 376 72


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