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)

Two Dutch siblings are described suffering from muscular weakness, hypotonia, severe joint contractures, mental retardation and epileptic fits. E.M.G. showed a characteristic myopathic pattern. Muscle biopsy revealed changes consistent with congenital muscular dystrophy. On CT marked hypodensities of the cerebral white matter were noticed. These findings are consistent with congenital muscular dystrophy of the Fukuyama type, a peculiar form of congenital muscular dystrophy, extremely rare outside Japan.
 ...
PMID:Two Dutch siblings with congenital muscular dystrophy (Fukuyama type). 631 92

Hyperinsulinaemic hypoglycaemia in infancy may be transient or persistent. Persistent hypoglycaemia is caused by nesidioblastosis of the pancreas, a diffuse pancreatic endocrine abnormality involving all the endocrine tissue, or by an islet cell adenoma. The cause of nesidioblastosis is not known but unless controlled its hypoglycaemic effects lead to convulsions, mental retardation or death. Patients with transient hyperinsulinaemic hypoglycaemia, and some with persistent hypoglycaemia, respond to medical therapy but those with an adenoma and many of those with nesidioblastosis will require partial or total pancreatectomy. The surgical treatment of six infants and a child is discussed. Five infants had nesidioblastosis; one infant and one nine-year-old girl had an islet cell adenoma. It is suggested that in the very young when there is no evidence of an insulinoma, resection at the initial operation should be greater--up to 90 per cent--than the previously recommended 75 per cent.
 ...
PMID:The surgical treatment of hyperinsulinism in infancy and childhood. 631 36

A male infant had precocious puberty and hamartoma of the CNS. Signs of puberty appeared and progressed from 6 months of age. A computed tomographic scan disclosed an interpedunculary tumor. A craniotomy was successfully performed at 11/2 years of age, and 90% of the tumor was removed. Histologically, the tissue was identified as a hypothalamic hamartoma. Pubertal development stopped. The patient is now 4 years 9 months old and well. Review of medical literature covering a span of 47 years showed 50 cases of hamartomas in or near the hypothalamus confirmed by surgical exploration or autopsy. The male-female ratio of hamartomas with precocious puberty derived from these data is 2:1. Convulsions, mental retardation, or behavioral disorders were present in 48% of the cases; 36% had precocious puberty.
 ...
PMID:Hamartoma of CNS associated with precocious puberty. 633 89

The adult type of neuronal ceroid lipofuscinosis (NCL) occurred in a 49-year-old man and his 51-year-old sister. They showed episodic stuporous and psychotic states, mental retardation, generalized convulsions, and ichthyosis vulgaris. At autopsy the woman had excessive accumulation of lipofuscin throughout the CNS. The degree of neuronal lipopigment accumulation was very severe in the neurons of the thalamus, substantia nigra, inferior olivary nuclei, motor nuclei of the brain stem, and cerebral cortex. Mental symptoms, such as stupor, excitement, hallucinations, and delusions, were the predominant clinical manifestations and so were misdiagnosed as schizophrenia. Though the clinical diagnosis of the adult type of NCL (Kufs' disease) is difficult because of its wide variety of manifestations, symptoms such as episodic psychotic and stuporous states accompanied by convulsive disorders with mild neurologic signs may be an indication of this disease.
 ...
PMID:Familial occurrence of adult-type neuronal ceroid lipofuscinosis. 647 18

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases]. 652 23

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.
 ...
PMID:[Cranial computer tomography in pediatrics]. 670 Sep 99

Age at onset of seizures in young children and its relationship to factors such as prior neurological status and neurological outcome were examined. Of 52,360 children, 39,270 of whom were followed for the full 7 years, a total of 2,635 experienced one or more seizures between birth and 7 years of age. The incidence of nonfebrile convulsions was highest in the first year of life, especially in the first month. Children with neonatal seizures who later developed nonfebrile seizures did so early, two-thirds by 6 months and three-quarters by 1 year of age. Children with neurological or developmental abnormality assessed in the first year of life did not have their first seizure earlier than children without abnormality. Neurological abnormality in the first year of life before any seizure, and the presence of minor motor seizures, were associated with an increased rate of mental retardation and cerebral palsy at age 7, but early age at onset appeared to have little prognostic value regarding intellectual function, cerebral palsy, and epilepsy.
 ...
PMID:Age at onset of seizures in young children. 670 53

The literature on the correlation of epilepsy and psychosis is reviewed briefly. The terms "forced normalization" and "alternative psychosis" and further the risk factors in the genesis of psychosis in epilepsy are underlined with special emphasis on childhood and adolescence. Furthermore the case of a girl aged 16.7 years is reported. This girl developed blinking fits at the age of 7 years and in 1978 at the age of 16 paranoid-hallucinatory symptoms with temporarily increasing paroxysmal potentials in the EEG following an initial depressive phase. Phenytoin and Valproate was administered. The psychotic and epileptic symptoms diminished with simultaneous amelioration of the EEG. After discharge a neuroleptic medication was added temporarily due to slight exacerbation of the psychotic symptoms. Finally risk factors of psychosis in epilepsy are considered with special respect of mental retardation and age of the patient.
 ...
PMID:[Coincidence of epilepsy and psychosis in a 16-year old female patient (author's transl)]. 677 84

A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).
 ...
PMID:Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage. 677 1

Report of a case of linear nevus sebaceous of Jadassohn with the classical syndrome: 1) the facial linear nevus; 2) focal convulsions and 3) mental retardation. Skin biopsy didn't show proliferation of the sebaceous glands showing to be an early case. Computerized tomography showed slight cortico-subcortical atrophies, in contrast with the intensity of the mental retardation and focal crisis. Convulsions were controlled by several drug associations.
 ...
PMID:[Jadassohn linear nevus sebaceous. Report of a case]. 682 Jun 31


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>