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)

A deficiency of hepatic tyrosine aminotransferase in humans is responsible for a syndrome of keratitis, palmar and plantar erosions and hyperkeratosis and mental retardation. Serum tyrosine increases due to the enzymatic deficiency leads to the deposition of tyrosine crystals in the eye and cornea. This deposition and possible lysosomal activation leads to inflammation in the cornea and the skin. The syndrome can be reproduced in animals who are fed a high tyrosine diet. The interaction of tyrosine crystals with membrane-bound particles can be studied in vitro with lysosomes and erythrocytes.
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PMID:Molecular biology and molecular pathology of a newly described molecular disease--tyrosinemia II (the Richner-Hanhart syndrome). 2 31

De Barsy syndrome is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, growth retardation, mental retardation and athetoid movements. The clinical symptoms of a male infant are described and compared with all other cases reported in literature. The aetiology of this syndrome is unclear; inheritance is probably autosomal recessive.
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PMID:[The De Barsy syndrome]. 274 Nov 59

Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. Light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, Schwann cells, retinal ganglion cells, and vascular endothelial cells. Light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy.
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PMID:Ocular abnormalities in mucolipidosis IV. 391 53

The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation. This report presents a sporadic case of the Rieger syndrome, the findings in which include the characteristic ocular anomalies, shortness of stature, mental retardation, absent dental defects and a peculiar, heretofore unobserved, myopathy.
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PMID:Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case. 500 37

The Richner-Hanhart syndrome corresponds to a tyrosine elevation in serum due to deficit in soluble tyrosine aminotransferase in liver cells. This new enzymopathy which is transmitted in an autosomal recessive mode is called oculocutaneous tyrosinosis. It is curable by a poor diet in tyrosine and its precursors. The diagnosis has been invoked in a 18 months old girl, on the association of punctuate palmar and plantar keratosis, dentritic ulcerated keratitis, and mental retardation. The diagnosis is confirmed by elevation of tyrosinemia to 52 mgs/100 mls associated with a high urinary elimination of tyrosine and plenylcetonic acid. Absences of anomaly in the metabolism of methionin and hepatorenal absence of disturbance of hepatorenal system is characteristic. The keratosis accompany orthokeratotic hyperkeratosis. The keratinocytes show 2 types of anomaly ranged in strates in the epiderm. Intracytoplasmic vacuoles which include or lead to pseudomyelinic formations extend progressively from the mitochondrial alterations in the epidemial basal layers. Bulky polyhedral electron dense particles are found in the cytoplasm of the superficial keratinocytes. Most of these aspects have been demonstrated anteriorly in the keratinocytes and the cornea; on the other hand, signs of mitochondrial sulferance had not been observed. The genesis of these cellular alterations based on the liberation of lysosomial enzymes by the action of crystals of tyrosine has been suggested by Goldsmith from experimental facts. However, it seems the mitochondrial defect occurs outside this mechanism.
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PMID:[Oculo-cutaneous tyrosinosis (Richner-Hanhart syndrome). Histo-pathological study of a case]. 611 39

Retrospectively studied were 91 patients, 14 years of age or less, who had 152 penetrating keratoplasties in 107 eyes, with an average follow-up of 30.1 months. Survival analysis showed the probability of obtaining a clear graft at one year to be 60 +/- 8% in 45 eyes with congenital opacities, 70 +/- 8% in 31 eyes with opacities from trauma and 73 +/- 8% in 31 eyes with acquired nontraumatic opacities. Most failures occurred during the first postoperative year and were characterized by the gradual loss of graft clarity from undetermined cause. Twenty-nine percent (10) of the 34 eyes with congenital corneal opacities in which vision could be measured had a most recent visual acuity better than 6/120 (20/400). Irreversible amblyopia, glaucoma, other structural abnormalities of the anterior segment and mental retardation complicated visual rehabilitation in the congenital group. In the post-traumatic group, vision was better than 6/120 (20/400) in 45% (13) of 29 eyes, being limited by vitreoretinal pathology, fibrous ingrowth, and optic nerve damage from glaucoma. Visual acuity in the acquired, nontraumatic group was better than 6/120 (20/400) in 67% (20) of 30 eyes. The percentage of patients achieving 6/12 (20/40) or better in the congenital, post-traumatic, and nontraumatic groups were 3% (1/34), 17% (5/29), and 47% (14/30), respectively. In the congenital group, only patients with posterior polymorphous dystrophy obtained a visual acuity of 6/30 (20/100) or better. Preoperative vascularization of the cornea, persistent epithelial defects, and performance of lensectomy-vitrectomy were factors most highly correlated with poor graft survival.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Penetrating keratoplasty in children. 639 81

The authors report a 1-year-old Japanese boy, who was noted to have unilateral alopecia and a cloudy cornea since birth. Additional features included mild spasticity and mental retardation, DQ being 70. A non-communicating cystic lesion was found in the right middle cerebral fossa by metrizamide CT scan, and resection of the lesion by craniotomy revealed an arachnoid cyst. The case was diagnosed as encephalocraniocutaneous lipomatosis, a recently described neurocutaneous syndrome.
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PMID:Encephalocraniocutaneous lipomatosis: a recently described neurocutaneous syndrome. 674 91

We report on a 10 1/2-years-old patient with clinical manifestations of Peters'-Plus syndrome. The patient had Peters' anomaly, slightly arched eyebrows, long eyelashes, a broad nasal tip; malformed and prominent ears, cleft lip and palate, brachydactyly, fingertip pads, severe growth deficiency, and mild mental retardation. Peters' anomaly is a defect of the anterior chamber of the eye, including central corneal opacity, thinning of the posterior aspect of the cornea and iridolenticulocorneal adhesions. Peters'-Plus syndrome is a disorder in which patients with Peters' anomaly are also found to have short stature, brachymedia, abnormal ears, cleft lip and palate, and mental retardation. Our patient showed Peters'-Plus syndrome associated with some clinical manifestations of the Kabuki make-up syndrome.
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PMID:Peters'-Plus syndrome: report on an unusual case. 761 2

Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and mental retardation. Serum tyrosine increases due to tyrosine aminotransferase deficiency resulting in the deposition of tyrosine crystals in the cornea and in corneal inflammation. Patients are often misdiagnosed as having herpes simplex keratitis. We report on a child who presented with bilateral keratitis secondary to Tyrosinemia Type II diagnosed as herpes simplex keratitis.
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PMID:Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. 764 39

We report about a premature infant with a De Barsy-Moens-Dierckx-syndrome, which is a rare cutaneo-oculo-cerebral malformation-syndrome. It is defined by the combination of a progeroid aspect, cutis laxa, growth retardation, cornea clouding, mental retardation and athetoid movements. Furthermore, the reported case showed a remarkable thermolability and suffered from generalised seizures resistant to therapy. Despite extensive sonographic examinations the prepartal diagnosis seems to be very difficult.
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PMID:[De Barsy-Moens-Dierckx syndrome: unusual course in a neonate]. 782 30


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