Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors present an account on a 12-year-old girl with ectomesodermal dysgenesis of the Rieger type syndrome. The disease was manifested at the age of nine months by transient diffuse corneal opacity, while the intraocular pressure was normal. In addition to typical corneal changes and changes in the angle of the chamber other associated somatic symptoms included megalocornea, high myoptic astigmatism, cleft soft palate, hypoplasia of the upper jaw, partial anodontia, marked thoracic kyphosis, scoliosis, generalized hypermobility and taxicity of the joints and torticollis. Examination revealed an uncommon pathological karyotype 46, XX, t/1,4 (p36, q23). Cytogenetic examination of the parents and siblings of the proband did not disclose any numerical or structural aberrations. The authors reflect on possible causes of the development of the disease and on the differential diagnosis.
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PMID:[Mesodermal dysgenesis]. 233 77

A 14 year old boy underwent a 7 hour long spinal surgery for scoliosis in the prone position. In the immediate postoperative period, he developed right proptosis, periorbital swelling, chemosis and total ophthalmoplegia. The vision in his right eye was only counting fingers and the intraocular pressure was 68 mmHg. Fundus examination revealed occlusion of the right central retinal artery. A rare manifestation of both vein and artery occlusion was possible in this patient as a result of external ocular compression due to a prolonged period in the prone position. This report highlights the importance of being aware of the possible complications of external ocular compression in non-ocular surgery.
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PMID:Central retinal artery occlusion and ophthalmoplegia following spinal surgery in the prone position. 2095 60

Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. We report the case of a 9 year old child, who presented with visual loss evolving since 6 months. Ophthalmologic examination showed visual acuity of 4/10 in both eyes, retained ocular motility and rotational nystagmus. The examination of the anterior segment of the eye showed megalocornea with no evidence of goniodysgenesis, iridodonesis associated with atrophy of the dilator muscle and microcoria with lazy photomotor reflex. Normal intraocular pressure was 14 mmHg. Ocular fundus examination, despite difficulties in performing it, objectified bilateral papilledema (stage II). General physical examination showed torticollis, scoliosis and a tetra-pyramidal syndrome. MRI showed Chiari malformation type I associated with hydrocephalus and syringomyelia. Neurosurgical intervention based on internal CSF drainage with occipitocervical osteo-dural decompression was proposed. The evolution was favorable with regression of clinical signs. Ophthalmologically, there was a regression of papilledema but visual acuity remained stationary. The occurrence of papilledema associated with Chiari malformation type 1 is rare, it has been only reported in 2% of symptomatic patients. Its pathophysiology is still poorly understood. The originality of our study consists in the association of cerebellar malformations with ocular malformations including megalocornea and microcoria which make ophthalmologic examination more difficult to perform.
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PMID:[Papillary oedema revealing Arnold Chiari malformation type 1: about a case]. 2815 48