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)

We reviewed eight cases of congenital homonymous hemianopia to emphasize the features that may help the clinician to diagnose a congenital disease. The patients were usually unaware of the visual field defect. The hemianopia was usually congruous when incomplete and the opticokinetic nystagmus had a normal pattern. Associated congenital ocular and neurologic abnormalities were common. Clinically recognizable atrophy or hypoplasia of the optic disk was found in all but one of the patients. There was often a history of neonatal or gestational difficulties followed by emotional, behavioral, and learning problems without mental retardation.
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PMID:Congenital homonymous hemianopia. 96 3

We experienced two cases of "Osteosclerosis" who were 12 and 15 year old sisters. Previous reported cases of this disease are 50 cases and among them only one patient was reported in Japan. Osteosclerosis seems to be inherited as an autosomal recessive trait. Parental consanguinity is also observed. The peculiar facies are evident in infancy, characterized by broad, flat nasal bridge, ocular hypertelorism and prognathic, broadened mandible. Commonly, they have cutaneous syndactylies in bilateral hands and feet, especially between the second and third finger and toe. Roentgenographically, hyperostosis with osteosclerosis can be observed in systemic bones, particularly the calvarium is greatly thickened. Since such a bony change occurs most severely at the base of the skull, important clinical symptoms of this disease are cranial nerve palsies resulting from obliterations of unilateral or bilateral several cranial nerve foramina. In many cases deafness due to progressive encroachment upon the middle ear cavities and auditory nerve canals appears early in infancy. Transient palsy of the facial nerve occurs somewhat later, and bilateral facial paralyses are usually permanent in adulthood. In some cases optic atrophy and visual field defect due to compression of the optic nerves are late complications. Other ocular symptoms are strabismus, nystagmus and exophthalmos. Anosmia and trigeminal nerve palsy are less common. Lower cranial nerve symptoms can not be noted but the reason is unclear. Chronic headache, convulsion and mental retardation are occasionally present. They are considered as a result from increased intracranial pressure due to progressive diminution of the cranial capacity. By same mechanism, several patients have died suddenly from impaction of the medulla oblongata in the foramen magnum in early adulthood. Then, some reporter puts emphasis on prophylactic opening of the foramen magnum in all adult cases.
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PMID:[Sibling case of osteosclerosis with cranial nerve symptoms]. 629 11

A case, diagnosed as 18p-syndrome by typical clinical appearance and by chromosomal analysis, presented with multiple nervous system defects consisting of bilateral pyramidal tract signs, weakness and focal dystonia of the lower extremities, and concentric visual field defect. Chromosomal analysis revealed karyotype 46, X, dic (Y;18) (p11;p11), inv(9) (p11q13), and the points of chromosomal breakages were thought to be in the short arm of chromosome 18 and in the short arm of Y chromosome. 18p-syndrome is caused by a chromosomal deletion, and presents with a wide variety of clinical appearances. Many cases have been reported since the original descriptions by de Grouchy in 1963, though with few mentions of neurological deficits other than mental retardation. Furthermore, there have been no reports of pyramidal tract signs, weakness and focal dystonia of the lower extremities, or visual field defect, without recognizable anatomical abnormalities. Our case of 18p-syndrome is quite rare because of multiple nervous system abnormalities mentioned above, not accompanied by malformations of the central nervous system.
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PMID:[18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defect]. 792 61

Visual field defects and other abnormalities are reported in patients receiving the newer antiepileptic Vigabatrin (VGB). Field testing in children younger than 6 years and those with mental retardation is difficult. The authors, therefore, studied ophthalmoscopic abnormalities in seven pediatric patients receiving VGB for median duration of 9 month (range, 3-32 months). Abnormal findings were seen in two (33.3%) in the form of surface wrinkling retinopathy and abnormal macular reflexes. The proportion of abnormal findings was in agreement with previous reports. Thus it is concluded that simple ophthalmoscopy by an ophthalmologist picks up the abnormalities due to ocular toxicity of VGB, and helps in rationalizing further AED therapy in the clinic.
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PMID:Fundal changes in children receiving Vigabatrin. 2140 17