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)

Sixty-two patients with cerebral palsy seen consecutively in a pediatric neurology practice were submitted to a prospective protocol which tabulated their neurological findings, birth and developmental histories and an extensive neurodevelopmental pedigree. Their family histories were compared with those of three control groups, consisting of 62 children with headaches, 62 with school/behavior problems and 62 random normal children. The family histories of the cerebral-palsied children revealed an unusual number of relatives with cerebral palsy, mental retardation and seizures. This study suggests that a large proportion of cerebral-palsied individuals may be predisposed to aplasia/hypoplasia of neural tissue. Some affected by presumably static 'brain-damage' may in later years develop indolent degenerative disease. Indirect genetic factors may also play a major predisposing role in cerebral palsy of proven postnatal/perinatal onset.
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PMID:Consideration of genetic factors in cerebral palsy. 401 27

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.
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PMID:[Sibling case of osteosclerosis with cranial nerve symptoms]. 629 11

Seventy one patients with cavum septi pellucidi (CSP) were found among 2722 patients who had received computerized tomographic scanning. A clinical evaluation of these patients was made to examine incidence, clinical symptoms and neurological signs of CSP. The results obtained were as follows: 1) Incidence of CSP was 2.6% of the patients who visited outpatient clinic of a mental hospital. Sex ratio was M:F 1.9:1.0. 2) Age of onset of chief complaints mainly ranged from 10 to 30 years in male, and 10 to 60 years in female. 3) Complications of epileptic attacks and mental retardation were 22.5% and 9.9% of the patients with CSP, respectively. Frequency of these complications was significantly higher, as compared with the patients without CSP. 4) Chief complaints of the patients with CSP were; headache (43.1%), nausea and/or vomiting (23.8%), epileptic attacks (22.5%), dizziness (19.7%) and emotional instability (19.7%). 5) No neurological signs specific to CSP was found in this study. 6) EEG abnormality was found in 22 of 71 patients with CSP.
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PMID:[A study of incidence and symptoms in 71 patients with cavum septi pellucidi]. 662 80

This paper deals mainly with methodical aspects (such as sedation, intravenous and intrathecal application of contrast media) and with common difficulties in interpretation of computed tomography images. The indications for cranial CT are discussed in respect probable therapeutic consequences and expected diagnostic yield. In view of the author CT is, as a rule, not required in assessing chronic headache, generalised epileptic convulsions, non-specific mental retardation and cerebral palsy.
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PMID:[Cranial computer tomography in pediatrics]. 670 Sep 99

Estimates of the need for neurologists must be based ultimately on the frequency of neurologic disease. Community-based population surveys for diseases or injuries that have come to medical attention provide annual incidence rates per 100,000 population, point prevalence rates per 100,000, and average duration in years. For 61 disorders, including for 8 only those fractions that were thought to require neurologic attention, the annual incidence rates summed to 2500 per 100,000 or 2.5% of the population. For 55 of these conditions, including for 6 only the neurologic fraction and excluding all mental retardation, blindness, deafness, or psychosis, the point prevalence rates summed to 9500 per 100,000 population. Even if we also excluded all headache, all trauma, all alcoholism, and all vertebrogenic pain states, 3.6% of the general population at any one time should be under neurologic care. Substracting all these exclusions from the incidence rates similarly leaves more than 1 person in every 100 who each year will have a new neurologic disorder that requires the attention of a physician competent in clinical neurology.
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PMID:The current neurologic burden of illness and injury in the United States. 689 Jan 53

In this work, we examined platelet MAO activity in 25 children with various neurological disorders and compared them with 30 control subjects. We found that platelet MAO activity changed in children with headache and very little in children with epilepsy and mental retardation. It is very difficult to interpret these results; therefore further works are needed to clarify platelet enzymatic activities.
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PMID:[Platelet monoamine oxidase activity in some neurological diseases of childhood]. 729 2

We review 160 cases of gliomatosis cerebri from the literature and report an additional three infants and young children who presented with intractable epilepsy, corticospinal tract deficits, and developmental delay in whom a pathologic diagnosis was made. The progressive nature of the encephalopathy in our cases was documented by serial clinical examination, electroencephalograms, magnetic resonance imaging, and positron emission tomographic scans. The natural history of gliomatosis cerebri was determined by a retrospective review of the literature of 160 cases in 85 reports. The most common neurologic symptoms and signs included corticospinal tract deficits (58%), dementia/mental retardation (44%), headache (39%), seizures (38%), cranioneuropathies (37%), increased intracranial pressure (34%), and spinocerebellar deficits (33%). The most commonly involved central nervous system structures were the centrum semiovale and cerebrum (76%), mesencephalon (52%), pons (52%), thalamus (43%), basal ganglia (34%), and the cerebellum (29%). Fifty-two percent of patients were dead within 12 months of onset. Different grades of glial neoplasm may also coexist within gliomatosis cerebri such as astrocytoma with anaplastic astrocytoma, atypical or anaplastic oligodendroglioma, and glioblastoma multiforme. Hypotheses regarding the pathogenesis of gliomatosis cerebri include blastomatous dysgenesis, diffuse infiltration, multicentric origin, in situ proliferation, and "field transformation." The biologic determinants of whether a transformed glial cell behaves as a relatively localized tumor mass or truly loses anchorage dependence to become migratory as well as proliferative are not understood.
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PMID:Gliomatosis cerebri presenting as intractable epilepsy during early childhood. 753 65

From 1982 to 1991, there were 57 patients diagnosed with various intracranial disorders manifested initially with acute hemiplegia at the Department of Pediatrics, National Taiwan University Hospital. There were 33 boys and 24 girls, aged 12 days to 18 years old. In etiological consideration, cerebrovascular disease (66.7%), intracranial tumors (12.3%) and head trauma (10.5%) accounted for most of the cases. Besides acute hemiplegia, cranial nerve palsy (47.4%), disturbed consciousness (42.1%), headache (42.1%), vomiting (31.6%), focal seizure (21.1%) and fever (21.1%) were also common manifestations. Neuroimage studies of CT/MRI scan and angiography were the most useful diagnostic tools. Treatment modalities included medical treatment in 25 patients and surgical intervention in 16 patients and supportive treatment in the others. There were 12 fatal cases, half of whom died directly of intracranial pathology. The survivors exhibited various neurological deficits, in which motor deficits, mental retardation, and subsequent seizures were the three most common sequelae.
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PMID:Acute hemiplegia in infancy and childhood. 817 42

We report the findings of a total population survey of Thugbah community in the Eastern Province of Saudi Arabia (SA) to determine its point prevalence of neurological diseases. During this two-phase door-to-door study, all Saudi nationals living in Thugbah were first screened by trained interviewers using a pretested questionnaire (sensitivity 98%, specificity 89%) administered at a face-to-face interview. Individuals with abnormal responses were then evaluated by a neurologist using specific guidelines and defined diagnostic criteria to document neurological disease. The questionnaire was readministered blind by a neurologist to all those with abnormal responses and a 1-in-20 random sample of those without abnormal responses, respectively. The family members of an individual with an abnormal response were also screened to improve accuracy. A total of 23,227 Saudis (98% of the eligible subjects) were screened and those residing in Thugbah on the reference date (22,630) were used to calculate the point prevalence rates. Forty-two percent of those screened were in the first decade of life and only 1.5% were more than 60 years old. There were marginally more females (50.2%) than males (49.8%). Consanguineous marriages especially between first cousins were present in 54.6%. The demographic characteristics of Thugbah community were similar to those in other parts of SA. The overall crude prevalence ratio (PR) for all forms of neurological disease was 131/1,000 population. All subsequent PRs are per 1,000 population. Headache syndromes were the most prevalent disorder (PR 20.7). The PR for all seizure disorders was 7.60, and the epilepsies (6.54) were more frequent than febrile convulsions (0.84). Mental retardation, cerebral palsy syndrome, and microcephaly were common pediatric problems with PRs of 6.27, 5.30 and 1.99, respectively. Stroke, Parkinson's disease, and Alzheimer's disease were uncommon with respective PRs of 1.8, 0.27 and 0.22. Central nervous system (CNS) malformations (0.49) such as hydrocephalus and meningomyelocele were more prevalent than spinal muscular atrophy (0.13), congenital brachial palsy (0.13) and narcolepsy (0.04). Multiple sclerosis was rare (0.04). Osteoarthritis and low back pain syndromes were the main non-neurological conditions seen. The major medical diseases that may be neurologically relevant were diabetes mellitus, hypertension, and connective tissue disorders.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:A community survey of neurological disorders in Saudi Arabia: the Thugbah study. 827 77

Molybdenum is found in most foods, with legumes, dairy products, and meats being the richest sources. This metal is considered essential because it is part of a complex called molybdenum cofactor that is required for the three mammalian enzymes xanthine oxidase (XO), aldehyde oxidase (AO), and sulfite oxidase (SO). XO participates in the metabolism of purines, AO catalyzes the conversion of aldehydes to acids, and SO is involved in the metabolism of sulfur-containing amino acids. Molybdenum deficiency is not found in free-living humans, but deficiency is reported in a patient receiving prolonged total parenteral nutrition with clinical signs characterized by tachycardia, headache, mental disturbances, and coma. The biochemical abnormalities in this acquired molybdenum deficiency include very low levels of uric acid in serum and urine (low XO activity) and low inorganic sulfate levels in urine (low SO activity). Inborn errors of isolated deficiencies of XO, SO, and molybdenum cofactor are described. Although XO deficiency is relatively benign, patients with isolated deficiencies of SO or molybdenum cofactor exhibit mental retardation, neurologic problems, and ocular lens dislocation. These abnormalities seem to be caused by the toxicity of sulfite and/or inadequate amounts of inorganic sulfate available for the formation of sulfated compounds present in the brain. XO and AO may also participate in the inactivation of some toxic substances, inasmuch as studies suggest that molybdenum deficiency is a factor in the higher incidence of esophageal cancer in populations consuming food grown in molybdenum-poor soil.
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PMID:Molybdenum: an essential trace element. 830 61


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