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)

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

Patients with tuberculous meningitis were treated with isoniazid and rifampicin for 12 months. To evaluate the result of treatment, we studied the outcome of patients treated from January 1979 to December 1985. Of the 51 patients, 27 were female, and 5, 25, and 21 patients were in the first, second, and third stages of the disease, respectively. Increased intracranial pressure of greater than 200 mm H2O was observed in 42 patients. Three patients required ventriculostomy, and one of them needed ventriculoperitoneal shunting. Three patients died within the first week of admission, and four patients were lost to follow-up. Forty-four patients were followed for 1 1/2 to 7 years; 31 of them recovered completely. Thirteen patients recovered with neurologic sequelae, which included mental retardation, motor weakness, seizures, and hydrocephalus. No serious side effect of the drugs were observed except for transient elevation of liver enzyme activities in four patients. The combination of isoniazid and rifampicin for 1 year, with appropriate management of increased intracranial pressure, seemed to be safe and effective enough to be used as a routine treatment of tuberculous meningitis in areas where resistance to these drugs is uncommon.
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PMID:Tuberculous meningitis in children: treatment with isoniazid and rifampicin for twelve months. 271 2

In 62 battered children with involvement of the central nervous system clinically 3 patterns of impact to the skull, brain and its coverings could be distinguished: In 22 babies (mean age 6 months) the brain was damaged mainly by violent shaking. Many of those infants were in shock and epileptic status on admission. Retinal, subarachnoidal, and later subdural bleedings were recognizable. At first, all patients survived, but later 3 of them died in a vegetative state. Retinal bleedings are prompted by subarachnoidal hemorrhage due to shearing of bridging veins and by compression of the chest which immediately is followed by raise of venous pressure in the upper half of the body and by arteriospasms, leading to endothelial damage and increase of vascular permeability (Purtscher's disease). Both mechanisms result in severe retinal hemorrhage which might intrude into the vitreous body (Terson-syndrome). The consequences of violent shaking for the child might be disastrous mental retardation, microcephaly, spasticity, and epilepsies. The child might turn blind on one or both eyes; the visual failure is due to retinal scar formation, retinal detachment and fibrous organisation within the vitreous body on the one hand, due to raised intracranial pressure on the other hand, adding further damage to the visual pathway. In 19 children whose mean age was 13 months massive impact on the skull resulted in major brain damage: acute subdural hematoma, contusional bleedings, compound, diastatic or impression fractures. Ten of them died immediately or were picked up dead from home by different emergency services.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Damage patterns in severe child abuse with and without fatal sequelae]. 374 20

Hypophosphatasia (HPP) is a bone metabolic disorder caused by mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL), which encodes tissue-nonspecific alkaline phosphatase (TNAP). This disease is characterized by disrupted bone and tooth mineralization, and reduced serum AP activity. Along with bone and tooth symptoms, many neurological symptoms, seizure, encephalopathy, intracranial hypertension, mental retardation, deafness, and growth hormone deficiency (GHD), are frequently found in HPP patients. Seizure occurs in severe HPP types soon after birth, and responds to pyridoxine, but is an indicator of lethal prognosis. Encephalopathy rarely presents in severe HPP types, but has severe sequelae. Intracranial hypertension complicated in mild HPP types develops after the age of 1 year and sometimes need neurosurgical intervention. Mental retardation, deafness and GHD are more frequently found in Japanese HPP patients. Mental retardation occurs in all HPP types. Deafness in perinatal lethal type is both conductive and sensorineural. GHD develops in all but perinatal lethal type and the diagnosis tends to delay. The pathogenesis of these neural features of HPP might be due to impairment of both vitamin B6 metabolism and central nervous system development by ALPL mutations.
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PMID:Neurological Symptoms of Hypophosphatasia. 2621 17

Crouzon syndrome (CS) is an genetic disorder with autosomal dominant inheritance caused by mutation of the gene for fibroblast growth factor receptor 2 (FGFR2) was described as one of the varieties of craniosynostosis. In this presented case, premature closure of the sutures had caused restricted skull growth and lack of space for the growing brain resulted to shallowed eyes and cranial and ophthalmic deformities and impairment in tooth development. Management of a patient of CS has two components. First is the release of prematurely fused sutures based on evidence of raised intracranial pressure. Surgery is mainly carried out early after 3-6 months. Second is the craniofacial reconstructive surgery including advancement of the maxilla and frontonasal complex; and other surgeries depending upon the deformities. An increased intracranial pressure impairs brain development and can lead to mental retardation. Because of the delayed diagnosis and treatment in this case, visual and hearing loses and decreased mental capacity and mild retardation.
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PMID:Clinical characteristics of Crouzon syndrome. 2875 2