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

The study reports a family in which three children were found to have marked sensory-motor polyneuropathy. Clinical investigations revealed a recessive hereditary form of highly progredient mostly motor polyneuropathy with atrophy and weakness of distal muscle groups and electrophysiologic evidence of neurogenic lesion-delayed neural conduction. Apart from the peripheral nerves, clinical examination and additional investigations showed that the degenerative process encompassed central nerve system structures, posterior bundles of the spinal cord, spinal cerebral pathways, cerebellum and cerebrum (cerebral sings, mental retardation, epilepsy, brain atrophy on CT, increased IGG in the liquor are present). Although clinical and electrophysiological analyses suggest type III HSMN, muscle and nerve biopsy, as well as additional diagnostic methods broaden the differential diagnostic range toward other forms of hereditary polyneuropathy, whose differentiation in practice is, in spite of clear diagnostic criteria, rather difficult, due to the presence of its transitive forms.
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PMID:[Hereditary sensory-motor polyneuropathy. Case report and problems in differential diagnosis]. 134 68

Two brothers with a presumably hereditary motor and sensory polyneuropathy (HMSN), sensory-neural hearing loss and mental retardation had clinical features and neuropathological changes in the sural nerve which may set the disorder apart from previously described types of HMSN. Consecutive sural nerve biopsies from one case showed absence of large myelinated fibers and a normal complement of small fibers. We infer from our findings that a developmental abnormality with faulty growth and subsequent axonal atrophy may be responsible.
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PMID:Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers. 150 51

We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-deficient transferrin, we examined serum transferrin by means of isoelectric focusing, and found increases in disialo transferrin and asialotransferrin. Removal of sialic acid with neuraminidase revealed the same transferrin phenotypes as in their parents. Similarly, carbohydrate-deficient fractions of serum alpha 1-antitrypsin were also detected. Therefore, the diagnosis was made of the recently identified carbohydrate-deficient glycoprotein syndrome. This is a genetic disorder with distinctive clinical features and multiple carbohydrate-deficient glycoproteins. These seem to be the first reported Japanese patients with this syndrome.
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PMID:The carbohydrate deficient glycoprotein syndrome in three Japanese children. 159 May 25

Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.
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PMID:Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. 166 80

We report cystinuria and symptoms of cerebellar atrophy in a 45-year-old man. His parents were first cousins, and many members of his family had stones of urinary tract or gait impairment. Neurological examination disclosed cerebellar signs resembling those of spinocerebellar degeneration. Urinalysis disclosed high cystine, lysine, ornitine and arginine output. Cystine was 1153.8 micro mol/day (normal range, 22-170); lysine, 3443.9 (normal range, 44-1000); ornitine, 283.8 (normal range, 7-40); and arginine, 154.0 (normal range, 9-50). Neurological complications reported to be associated with cystinuria include mental retardation, muscular dystrophy, hypotonia and dwarfism, mongolism, paroxysmal dyskinesia, myopathy, migraine, spastic paraplegia, multiple sclerosis, subacute combined degeneration and cranial polyneuropathy. Cerebellar signs have been reported in only two cases, and to our knowledge, this is the first case of cystinuria with cerebellar atrophy ever reported. Some common metabolic errors may have caused both disorders, although they also may have developed independently.
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PMID:[Cystinuria with symptoms of cerebellar atrophy--a case report]. 189 74

The carbohydrate-deficient glycoprotein syndrome is a newly described hereditary disorder which may be due to a defect in the glycoprotein metabolism. Predominant symptoms are mental retardation, epilepsy, cerebellar ataxia, polyneuropathy, squint, retinitis pigmentosa, retarded growth, hypothyroidism and liver steatosis. Increased serum glycoprotein-deficient transferrin is a marker of the disease and confirms the diagnosis. We describe four Norwegian children with this syndrome. Olivopontocerebellar degeneration was found upon examination of the brain in two patients who died.
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PMID:[The carbohydrate deficient glycoprotein syndrome]. 1044 Oct 90

Sibling cases of familial vitamin E deficiency accompanied by ataxia, polyneuropathy and mental retardation were reported. Case 1 was a 37-year-old male who developed progressive gait disturbance, deformity of the feet and head tremor from childhood, after normal delivery and development of early childhood. On physical examination, he had cataract, high arched palate and pes cavus. Neurological examination revealed mental retardation (WAIS 68), scanning speech, muscular atrophy of the face and extremities with predominance in the lower limbs, absent Achilles tendon reflex, disturbance of superficial and deep sensation predominant in distal limbs, and marked gait ataxia. Ataxia was both cerebellar and sensory in nature. Laboratory data of the blood showed no significant abnormalities including blood glucose and vitamin B12 except a markedly low level of serum vitamin E. The brain CT scan revealed severe cerebellar atrophy and marked dilatation of the cisterna magna and the subarachnoid space around the cerebellum. Motor nerve conduction velocity in the leg was decreased. Biopsy specimen from the quadriceps muscle showed neurogenic atrophy. Sural nerve biopsy revealed decrease in large myelinated fibers with axonal degeneration and regeneration. Oral administration of alpha-tocopherol acetate, 600 mg per day, diminished ataxia significantly. Based on lysosomal enzyme activity in leukocytes, clinical and laboratory examination, lipidosis or spinocerebellar degeneration was excluded. Chronic lipid malabsorption or beta lipoprotein deficiency which can cause decrease in vitamin E absorption, was not recognized. On oral loading with 2 g of alpha-tocopherol acetate, the decrease rate of serum vitamin E was normal. Consequently the low vitamin E was considered to have resulted from selective impairment of vitamin E absorption.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. 226 7

Darier's disease is determined by an autosomal dominant gene and is clinically characterized by confluent hyperkarotic papules. Mental retardation may appear in up to 10-20% of patients. Convulsions, spinocerebellar tract degeneration, polyneuropathy, psychiatric disorders and cerebral atrophy occur with a low and as yet not precisely determined incidence. In the medical literature reviewed only two previous cases of cerebral atrophy associated with Darier's disease were found. This study describes six members of a family affected with an unusually high incidence of neurologic manifestations. The mother and her five sons showed skin lesions, which, on histological examination, revealed the characteristic pathological changes of Darier's disease. Two of the five siblings with convulsions and mental retardation underwent computed tomography of the brain and both patients revealed the classic findings in atrophy; moderate enlargement of the lateral ventricles and widening of the cortical sulci. Cerebral atrophy was correlated with mental retardation and convulsions.
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PMID:[Mental retardation convulsions and cerebral atrophy; main neurological changes in Darier's disease]. 739 29

The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfunction during infancy, cerebellar ataxia and atrophy, polyneuropathy, growth retardation, stroke-like episodes, and the appearance of carbohydrate-deficient fractions of multiple glycoproteins in the serum. The neuroradiological findings have been known as features of olivopontocerebellar atrophy. However, whether the abnormalities in the cerebellum and brain stem progress after birth is not known. We have carried out serial CT and MRI on three Japanese patients with this syndrome at different ages. A small cerebellum, with peculiar enlargement of the cisterna magna, and a small brain stem are present in infancy and atrophy of the anterior vermis and from before backwards in the cerebellar hemispheres seem to progress throughout early childhood.
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PMID:Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome. 747 67

A 33-year-old woman, whose parents were consanguineously married, was admitted to our hospital because of progressive difficulty in walking and hoarseness in speech. She had been in good health as a child, at age 16 ulcerations appeared on the skin of feet, and have been recurrent. AT age 22, bilateral cataracts were removed. From the age of 26 years, the deformities in the toes and fingers worsened and she had difficulty in walking. At age 32, hoarseness was noticed. The patient was a diminutive woman and the skin was dry, thin and hyperpigmented. The neurological examination revealed mental retardation, spastic paraparesis and polyneuropathy. Electrophysiological studies revealed a slowing of central and peripheral nerve conduction. Sural nerve biopsy revealed a significantly higher incidence of de- and remyelination and a loss of myelinated fibers. These data suggest that the central and peripheral nervous systems are affected in Werner syndrome.
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PMID:[A case of Werner syndrome associated with spastic paraparesis and peripheral neuropathy]. 839 17


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