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)

A 40-year-old man was hospitalized for tremor of the right upper limb, gait disturbance and dysarthria. His course of development had been normal until the age of 14, when difficulties in speaking and walking, and tremor of the upper limb became evident following an episode of fever. His symptoms have been gradually worsening for the past 25 years. His elder sister showed similar clinical symptoms and progressive course of illness. The patient showed no indication of mental retardation. Neurological examination showed dysarthria, slow dyskinetic movement of the tongue, dystonic posture of the left hand, tremor of irregular frequency of the right upper limb, diminished tendon reflex, positive Romberg's sign, diminished vibratory and position sense in the lower limbs and pyramidal signs. Cystometry indicated defective voiding of the bladder. Magnetic resonance imaging of the brain showed bilateral atrophy of the putamina, globus pallidus, caudate nuclei and substantia nigra. MRI showed similar findings in her sister. By electrophysiological and pathological examination, disorders of other systems were evident, such as upper motor neurons, and sensory tract. GM1 and GM2 gangliosidosis appeared the most likely diagnosis, but were ruled out on the basis of the result of lysozomal enzyme assay and rectal biopsy. The present patient's condition may possibly be the result of an unknown metabolic disorder, or a new disease entity affecting various components of the nervous system.
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PMID:[Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI]. 176 49

The authors report a case of Parry-Romberg disease with predominantly facial left atrophy, seizures, amnesic aphasia, mental retardation, right hemiplegia and hemianesthesia, and cerebellar syndrome. The rarity of cerebellar atrophy (only one case thus far reported in the literature surveyed) is emphasized, as well as the correlation between the clinical abnormalities and the computerized axial tomography of the skull.
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PMID:[Progressive facial hemiatrophy: report of a case]. 646 49

Argininosuccinic aciduria (ASA-uria) is a rare inborn error of the urea cycle, in which there is massive excretion of argininosuccinic acid (ASA) in the urine together with elevated concentrations of ASA in the plasma and the CSF. The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation. The present patient, the first Finnish one to be reported, was a 49-year-old woman. She was hospitalized at the age of 26 with a diagnosis schizophrenia and mental retardation. Her clinical symptoms consisted of ataxia, disturbance of coordination, clumsiness, intention treMor and a positive Romberg's sign. The laboratory findings were consistent with the mild, late-onset type of ASA-uria.
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PMID:Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. 713 86

Intelligence is assessed for ruling out mental retardation and to find out the relative cognitive strengths in autism. Of special interest is to know the nature of intelligence and cognition in high functioning autism. But very little is known how the assessments are carried given the deficits in communication, socialization in autism. This cross-sectional study aims to describe the nature of intelligence and cognition in a child with HFA and drawing implications for assessment in the Indian setting. Results indicate that there is no evidence for superior crystallized intelligence in HFA, though a jagged profile could be expected both across and within cognitive domains.
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PMID:Intelligence and cognition in a child with high functioning autism. 2372 51