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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of congenital hypothyroidism, presenting with growth and mental retardation since childhood, but in which the diagnosis was not made until he was 17 years old. Because of such an unusually long delay in treatment, we focussed on the growth catch-up. This included the change of skeletal growth, puberty and mentality after a 4-year treatment period. He was 114 cm in height (height age 5.5 years) with the upper segment measuring 60 cm and lower segment 54 cm (U/L ratio 1.1). His bone age was that of a six year old and he had no secondary sexual characteristics. IQ testing showed a full scale IQ of 68, verbal IQ 74 and performance IQ 64. After 4 years of treatment, his height caught up to 152 cm (height age 12.5 years), with the upper segment 77.2 cm, and that of lower segment 74.8 cm (U/L ratio 1.03). The bone age had advanced to that of a 17 year old. His pubic hair emerged after 18 months of therapy (at a chronologic age of 18.5 years), accompanied by a normalization of testosterone and a normal response to a GnRH test. His IQ test was rechecked after 2 years of treatment. His full scale IQ was 78, verbal IQ 77 and performance IQ 83. In the mean time, the patient got a job being more alert, active and self-confident following his growth catch-up.
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PMID:[Growth catch-up in the case of congenital hypothyroidism after delayed treatment--a case report]. 222 5

Two families having secundum atrial septal defect (ASD) were reported. In one family, a 31-year-old male and his 60-year-old mother had secundum ASD without PR prolongation. His 38-year-old brother was diagnosed as having ASD. His grandmother, who had died at the age of 51, was suspected of having congenital heart disease. From early childhood she was noticed to have heart murmur. It was suspected that this was a case of familial ASD without PR prolongation, because it was consistent with the dominant trait of the defect. In the other family, a 16-year-old female had secundum ASD and her 18-year-old brother was also suspected of having ASD. Her 25-year-old brother had been operated on for tetralogy of Fallot, and her sister had died of an unknown congenital heart disease. All of these family members had mental retardation. Her 22-year-old brother was suspected of having a congenital heart disease, because of heart murmur from his early childhood. The parents, who were blood relations (cousins), had neither heart disease nor mental retardation. The children of this family were considered to be cases of congenital heart disease with ASD, associated with mental retardation. It was also suspected that the cause of the defect was a deleterious autosomal recessive gene.
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PMID:[Secundum atrial septal defect in two families]. 230 32

The Kearns-Sayre syndrome is identified by the triad of progressive external ophthalmoplegia, atypical pigmentary retinopathy, and conduction disturbances. In addition, clinical manifestations may include mental retardation, sensorineural deafness, cerebellar ataxia, and facial and peripheral muscle weakness. Morphologic alterations in skeletal muscle may be characterized by ragged-red fibers. Two patients with Kearns-Sayre syndrome underwent electrophysiological examination. The first patient had a first and second degree AV block (Mobitz type II), right bundle branch block, and left axis deviation. The His-bundle electrogram showed a prolonged HV interval as a hint at an intraventricular conduction delay. The signal-averaging technique and endocardial mapping revealed ventricular after-depolarizations. The second patient had an unsuspicious ECG, recurrent atrial tachycardias, normal atrial and ventricular conduction, and after-depolarizations in endocardial mapping. Two months later he showed a second degree AV block combined with clinical symptoms. Pacemakers were implanted in both patients. Beside disturbances of the conduction system in both patients signs of electrical instability of the myocardium were found. In this way the Kearns-Sayre syndrome may be seen as a form of cardiomyopathy.
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PMID:[Electrophysiologic findings in patients with Kearns-Sayre syndrome--report on 2 cases]. 240 85

We described a case of late-infantile form of galactosialidosis. This male patient was a product of normal pregnancy. His parents were first cousins. He first sat at eight months, walked and talked at two years of age. His gait gradually became unsteady and he was diagnosed as spastic paraparesis at the age of five years. Abnormally slow learning was first pointed out at seven years of age. At the age of nine years, we evaluated him in detail at our university hospital. Physical examination revealed a short stature for his age, slightly coarse face, short neck, funnel chest, genu, pes and hallucis valgus. Corneal clouding, hernia and angiokeratoma were not found. Neurological examination showed mental retardation, bilateral optic atrophy without cherry-red spots, and spastic and slightly ataxic gait. Slight muscular atrophy with weakness was also seen in the extremities, more remarkable in the lower limbs. Deep tendon reflexes were hyperactive with bilateral ankle clonus and no extensor planter response. Routine examination of blood, urine and cerebrospinal fluid were normal except for approximately 10% lymphocytes containing cytoplasmic vacuoles. X-ray films of the backbone exhibited vertebral plana with anterior breaking at the second lumbar vertebra level. The electroencephalography showed the multiple spike and slow wave complexes. Brain CT depicted the atrophy of cerebellum. The activities of sialidase and beta-galactosidase were markedly reduced in white blood cells and cultured skin fibroblasts in this patient. His urinary excretion of sialyloligosaccharides increased.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Late-infantile form galactosialidosis with psychomotor retardation and spastic paraparesis]. 251 61

We report a 9 year-old boy with MELAS. High dosed oral thiamine administration and high fat diet induced remarkable neurological and biochemical improvement. His mother had episodic headaches and hemiplegia, probably MELAS. He complained muscle weakness and repeated episodes of vomiting started from 2 years of age. High levels of serum lactate and pyruvate were recognized, but with no metabolic acidosis. He developed generalized muscle weakness, growth retardation, generalized convulsions and stroke-like episodes at 5 years old. Optic nerve atrophy and mental retardation gradually appeared. A muscle biopsy at 5 years old revealed numerous ragged-red fibers with excess accumulation of lipid droplets and glycogen particles. Scattered fibers had no cytochrome c oxidase (CCO) activity representing focal CCO deficiency. An electron microscopy showed markedly increased number of giant mitochondria filled with markedly proliferated complicated cristae. Pyruvate dehydrogenase complex level in the fibroblasts was within normal ranges. Serum carnitine level was normal. With oral administration of thiamine hydrochloride (1000 mg) and high fat diet (60-70%), muscle weakness improved, and lactate and pyruvate levels in the serum reduced to normal ranges, whereas the mental deterioration, muscle atrophy, pes cavus progressed very slowly. He died from cardiac and renal failures at 9 years old. Autopsied muscles showed a marked decrease in cytochrome c oxidase activity (biochemically 12.8% of the normal level), and almost all muscle fibers had no cytochrome c oxidase activity histochemically. The progression of the MELAS was probably in parallel with the decrease in CCO activity.
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PMID:[A case of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) with progressive cytochrome c oxidase deficiency]. 255 13

A proximal 19q duplication was observed in lymphocytes of a young boy with mental retardation, dysmorphism (weight excess, macrocephaly, downward slanted palpebral fissures, hypertelorism, broad nose, typical mouth), without visceral malformation. His mother had an interstitial deletion and ring chromosome derived from 19q.
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PMID:[Proximal trisomy 19q. Interstitial deletion and ring chromosome derived from 19q]. 262 12

A 5-year-old boy with the epidermal nevus syndrome and hemimegalencephaly is reported. He had pigmented nevi on the forehead and neck, and hemihypertrophy of the body from the birth. He developed intractable seizures, mental retardation, and right hemiparesis. His seizure pattern changed from early infantile epileptic encephalopathy to infantile spasms at 2 months of age. Electroencephalograms showed a suppression-burst pattern in the neonatal period, subsequently changing to hypsarrhythmia. Computerized tomography of the brain disclosed slight dilatation of the posterior horn of the lateral ventricle at the age of 2 months. Later, hemimegalencephaly with calcification on the left side of the brain was noted. Histological examination of the pigmented nevus on the neck showed it to be an acanthosis nigricans-like lesion. Clinical differences between tuberous sclerosis and epidermal nevus syndrome with hemimegalencephaly are discussed.
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PMID:Epidermal nevus syndrome with hemimegalencephaly: a clinical report of a case with acanthosis nigricans-like nevi on the face and neck, hemimegalencephaly, and hemihypertrophy of the body. 275 Oct 68

We gave folinic acid to three siblings, and to a fourth child, who have or had dihydropteridine reductase (DHPR) deficiency. The youngest began folinic acid therapy in addition to neurotransmitter precursors and a phenylalanine-restricted diet at age 2 months, and at 2 years of age has near normal development without evidence of neurologic impairment. His older brother began similar treatment at 5 1/2 months of age, when early neurologic findings were evident. At age 6 years his mental retardation and neurologic impairment are less severe than reported in most patients with DHPR deficiency. Little improvement occurred in their sister, who first received treatment at 2 years of age, when she already had severe neurologic impairment. An unrelated boy with profound neurologic impairment showed subtle signs of improvement after he began treatment with folinic acid alone at age 9 years. These results provide evidence that folinic acid is important in the treatment of DHPR deficiency and, if begun early in infancy, may prevent irreversible neurologic damage. The mechanism of folinic acid action in DHPR deficiency may be to increase indirectly the synthesis of 5-methyltetrahydrofolate.
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PMID:Folinic acid therapy in treatment of dihydropteridine reductase deficiency. 287 84

We report a case of a boy with Duchenne muscular dystrophy (DMD) associated with GK deficiency (GK), congenital adrenal hypoplasia (AHC), and mental retardation. Cytogenetic analysis of prometaphasic chromosomes revealed an interstitial chromosome deletion at Xp21.2 possibly extending to Xp21.1 or Xp21.3. His phenotypically normal mother was heterozygous for this deletion. DNA probe analysis on Southern blots showed that the deletion affected the following probe sites: 754, pERT 84, 21A, XJ2.3, pERT 87, JBir, and J66-H1, whereas L1, C7, and CX5.4 probes gave a normal signal. Pulse field gel electrophoresis after SfiI digestion did not show abnormal fragments with L1. These data are consistent with a deletion of about 4 megabases and indicate that the GK and AHC loci are proximal to L1 and distal to J66-H1.
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PMID:Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. 289 44

We report a six year old male with mental retardation, postaxial polydactyly and syndactyly, atrichia congenita totalis, severe seborrhoeic dermatitis, recurrent staphylococcal skin sepsis, and Perthes' disease of the hip. His birth may have resulted from an incestuous mating.
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PMID:Unknown syndrome: mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip. 296 61


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