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)

The Lennox-Gastaut syndrome (LGS) is an electro-clinical syndrome of early childhood that consists of mental retardation, intractable generalized epilepsy with multiple seizure types, and typical EEG findings. We report a 64-year-old woman who was referred for presurgical evaluation with a diagnosis of intractable temporal lobe epilepsy since the age of 14 years, consisting of staring and unresponsiveness, sudden falls, and generalized convulsions. The average seizure frequency was 1-4 per month. Mental status and neurological examination were normal. There was no known etiology and magnetic resonance imaging (MRI) of the brain was normal. Interictal EEG showed findings characteristic of LGS: generalized slow spike-wave complexes, multifocal sharp waves, generalized polyspikes and paroxysmal fast activity during sleep. Despite the absence of mental retardation and the presence of normal alpha rhythm, the patient fulfills most diagnostic criteria for LGS, with unusually late onset and extremely delayed diagnosis. This case illustrates the controversial nosologic boundaries of the syndrome. Prolonged EEG video monitoring may be of value even in the elderly. The LGS and other varieties of secondary generalized epilepsy should be considered in the syndromic diagnosis of epilepsy in the elderly.
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PMID:Lennox-Gastaut syndrome in the elderly? 781 93

Twenty infants aged 2 weeks to 3 months with the diagnosis of bleeding disorder secondary to low prothrombin complex level were studied. Sixty children of the control group were matched to the cases by age +/- 2 weeks, sex and race. The ratio of boys to girls was 2.3:1. The median, mean, and range of age of the cases and controls were 43.5 days, 43.7 days, 21-73 days and 43.5 days, 46.8 days, 26-28 days respectively. Most of them were pale with a mean hematocrit of 23.55%. The partial thromboplastin time and prothrombin time were markedly prolonged. The means of vitamin K dependent coagulation factors II, VII, IX and X were 1.10%, 5.87%, 2.86%, and 4.47% of adult activity, respectively. The clinical manifestations related to the bleeding of the cases were drowsiness and convulsion (95%), pallor (85%), and apparent bleeding (10%). The sites of the bleeding were demonstrated in the cranial cavity (95%), gastrointestinal tract and oral cavity (15%), and skin (5%). Nineteen patients with intracranial hemorrhage had bleeding in the subdural space (79%), intracerebral (42%), intraventricular (32%), and subarachnoid space (5.2%). The mortality rate and permanent brain damage occurred in 10% and 45%, respectively. Only 45% of the cases recovered normally. The permanent neurological sequelaes were hemiparesis (44.4%), microcephaly (33.3%), convulsive disorder (33.3%), mental retardation (33.3%), spasticity (22.2%), and hydrocephalus (11.1%). Breast feeding alone up to the day of study (OR = 7.0, p < 0.005) was found to be a significant risk factor for bleeding in these infants.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Risk factors of bleeding diathesis secondary to low prothrombin complex level in infants: a preliminary report. 788 52

We reported here a case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome (TRPS) type II) associated with epilepsy. TRPS type II is an uncommon genetic disease characterized by sparse, slowly growing scalp hair, pear-shaped nose, multiple cartilagenous exostosis and mental retardation associated with delayed speech development. This patient displayed typical features of this syndrome. He also showed arachnoid cyst in the frontal area on computer tomography of the brain, and paroximal activities on EEG. Chromosomal analysis revealed a partial deletion of the long arm of chromosome 8. He had afebrile convulsion which is a rare complication of this syndrome.
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PMID:[A case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) associated with epilepsy]. 791 95

The authors report a 9-year-old girl with mid-facial hypoplasia, maxillary hypoplasia, prognathia, microbrachycephaly, mouth opening and protruding tongue. She also had psychomotor retardation such as mental retardation and speech delay. Frequent laughter fits and seizure disorder was also noted. Although the high resolution chromosome study failed to demonstrate any deletion of chromosome 15q, the clinical picture was compatible with Angelman syndrome. Breast development at the age of six and rapid progression of bone age was noted at follow up. After a series of examinations, the diagnosis of gonadotropin-dependent precocious puberty was made. MRI of brain revealed an intermediate cyst in the pituitary gland and slightly enlarged pineal gland. However, serum alpha-fetoprotein and beta-HCG were undetectable and the size of the pineal gland remained the same at the 1-year follow-up. She was treated with long-acting GnRH analogue and valproic acid. The combination of precocious puberty and Angelman syndrome has not been reported before and such association needs further experience for clarification.
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PMID:Precocious puberty in a case with probable Angelman syndrome. 794 14

Menkes disease is a rare, sex-linked recessive disorder characterized by kinky hair, convulsion, mental retardation, bone and connective tissue lesions, and hypothermia. These symptoms have been attributed to suppression of copper-dependent enzymes resulting from copper deficiency. We report a case of a 7-month-old infant with Menkes disease who underwent repair of inguinal hernia. Anesthesia was maintained with sevoflurane-N2O-O2, and the operation was carried out uneventfully. Although the patient had been medicated with anticonvulsants preoperatively, transient seizure occurred in the recovery room. We also discuss pathophysiology and anesthetic management of a patient with Menkes disease.
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PMID:[Anesthetic management of an infant with Menkes disease]. 823 Jul 25

Benign non-progressive familiar chorea is a chronic childhood (less than 5 years) choreatic disorder inherited as an autosomal dominant trait but not associated with dementia or progressive motor dysfunction. The major feature of this disease is chorea with early insidious onset and an arrested progression. The lack of mental retardation, mental deterioration or convulsion is the other significant aspects of this disorder. The chorea usually involves the distal limbs, face and trunk. This does not progress to a profound degree throughout the life. There is a controversy regarding whether this benign disorder might be a subtype variant of Huntington's disease. This should be clarified by more extensive molecular genetic studies of this disease.
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PMID:[Benign non-progressive familial chorea]. 827 78

Infections were considered to be etiological factors in 29 patients (10%) with infantile spasms; congenital CMV (n = 5), congenital or acquired CMV (n = 1), acquired CMV (n = 5), congenital rubella (n = 2), herpes simplex virus (n = 5), enterovirus (n = 1), adenovirus (n = 1), viral encephalitis of unknown agent (n = 3), meningococcus (n = 4), pneumococcus (n = 1) and pertussis (n = 1). The children with congenital infections had long-lasting tremor and convulsions from birth. Early EEG pattern was characteristic for children with herpes encephalitis but not for other patients. Infantile spasms appeared only some weeks after viral encephalitis. One patient with enterovirus and another with probable adenovirus infection had necrotic changes in their brain CT resembling those of herpes encephalitis. The response to ACTH was poor (38%) compared to the whole series (60%). The long-term outcome was also poor compared to the whole series; mental retardation in 90%, convulsions in 62%, abnormal EEG in 89%. Four children died during the follow-up of 7 years. Autopsy showed disseminated CMV infection in one patient and chronic CMV infection in another. The outcome of children with infectious etiology appears to be particularly poor. Thus, the prevention and specific diagnosis and treatment are important. Steroid therapy should be avoided in children with a history of herpes virus encephalitis (CMV, herpes simplex) in the past.
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PMID:Infantile spasms: infectious disorders. 830 17

Osteopetrosis is an inherited skeletal condition characterized by increased bone radiodensity. There are three clinical groups: infantile-malignant autosomal recessive, fatal within the first few years of life (in the absence of effective therapy); intermediate autosomal recessive, appears during the first decade of life but does not follow a malignant course; and autosomal dominant, with full-life expectancy but many orthopaedic problems. The infantile variant shows a myelophthisic anemia, granulocytopenia, and thrombocytopenia, and patients eventually die from infection or bleeding or both. Neurologic sequelae include cranial nerve compression (optic nerve, blindness; auditory nerve, deafness; facial nerve, paresis), hydrocephalus, convulsions, and mental retardation. Radiographs show uniform bone density without corticomedulary demarcation, broadened metaphyses, "bone within a bone" or endobone phenomena (tarsals, carpals, phalanges, vertebra, ilium), and thickened growth plates if there is superimposed rickets. Transverse pathologic fractures occur, often followed by massive periosteal bone formation. Computed tomographic scans, magnetic resonance imaging, and bone scans provide specific information. Iliac crest bone biopsy is valuable to quantitate osteoclast and marrow changes by light and electron microscopy. Medical treatments involve high-dose calcitriol to stimulate osteoclast differentiation and bone marrow transplantation to provide monocytic osteoclast precursors. Orthopaedic problems in the intermediate and autosomal dominant forms include increased fractures, coxa vara, long-bone bowing, hip and knee degenerative arthritis, and mandibular and long-bone osteomyelitis. Cranial nerve compression also occurs. Osteotomy, plating, intramedullary rodding, and joint arthroplasty can be done, but are difficult because of bone hardness.
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PMID:Osteopetrosis. Current clinical considerations. 835 40

Congenital muscular dystrophy (CMD) is a concept applied to infants showing muscular weakness and hypotonia at birth, with myopathic changes which are histopathologically similar to those of muscular dystrophy. Patients with Fukuyama-type CMD (FCMD), characterized by progressive muscular dystrophy, mental retardation and occasionally, convulsions, are more frequently seen in Japan than those with non-Fukuyama type CMD (NFCMD). FCMD has been regarded as a distinct clinical and pathological entity, although the nosologic status of CMD is still controversial. A 24-year-old man had exhibited hypotonia and weakness at birth and delay in early development. During childhood, his muscular weakness improved, and he rode a bicycle and enjoyed skiing. However, his strength began to deteriorate at the age of 19 years. Neurological examination on admission revealed prominent muscular wasting and weakness, predominantly in the proximal limbs. He had ocular involvement (corneal opacity and slow saccades), sensorineural deafness, and a high-arched palate, saddle nose and funnel chest as anomalous conditions. Serum CK was moderately elevated and EMG showed myogenic patterns. A muscle biopsy specimen of the left biceps brachii was dystrophic, showing increased variation in fiber size with fibrous tissue proliferation, an increased number of centralized nuclei, fiber splitting and degenerating/regenerating fibers. Those findings were compatible with those seen in NFCMD. In Japan, only one patient with NFCMD who was followed to adulthood has been reported. This patient's symptoms progressed very slowly. The present patient's course of illness was stable during childhood but progressive in early adulthood. It suggests heterogeneous clinical expression of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of non-Fukuyama type congenital muscular dystrophy with progression in early adulthood, ocular involvement, and sensorineural deafness]. 837 Feb 3

Over a five and a half year period, virological investigations for Japanese encephalitis (JE) were conducted in children admitted with acute encephalitis like illness to a large city hospital. The diagnosis of Japanese encephalitis was made by viral isolation from cerebrospinal fluid and/or a four-fold or higher rise in haemagglutination inhibiting antibodies in paired sera followed by demonstration of specific IgM antibodies by HI test after treatment with 2-mercapto ethanol. All children surviving the illness were contacted by post and followed up for sequelae. A total of 55 children could be followed up after 12-18 months and 22 of these even after 2 yr. A high rate of major sequelae (45.5%) in the form of frank motor deficits (32.7%), mental retardation (21.8%) and/or convulsions (18.2%) was observed. Neurological deficits were of diverse types and improved even after 2 yr of the illness. Fourteen patients (25.4%) had only minor deficits in the form of scholastic backwardness, behavioural problems and/or subtle neurological signs. Only 16 (29.2%) patients were completely normal on follow up. JE may therefore be an important cause of neurological handicap in this area. Sequelae of the disease were more severe if the initial illness was prolonged (P < 0.001, CI 2.45, 12.64), or associated with focal neurological deficits (P < 0.001, CI 1.97, 7.02).
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PMID:Clinical sequelae of Japanese encephalitis in children. 838 60


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