Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An otherwise healthy, 11-year-old boy presented with a long-standing history of right eye esotropia associated with a right head turn. Following a mild blunt facial trauma, he was brought to an ophthalmologist for binocular horizontal diplopia. Cranial CT scan revealed a large, enhancing lesion in the right cavernous sinus. Neuro-ophthalmological evaluation showed abduction deficit of the right eye, right corneal anaesthesia, right upper lid ptosis and a smaller right pupil suggesting involvement of the intracavernous segments of the right abducens nerve, ophthalmic nerve and oculosympathetic fibres. Cerebral angiography confirmed a large aneurysm involving the petrous, lacerum and cavernous segments of the right internal carotid artery. The child underwent successful clipping of the aneurysm by the neurosurgery service.
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PMID:Neuro-ophthalmological presentation of giant intracavernous carotid artery aneurysm in a child. 3056 93

CLOVES syndrome characterized by Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal anomalies is a recently described sporadic syndrome from postzygotic activating mutations in PIK3CA. This 3-year-old boy, born to nonconsanguineous and healthy parents, had epidermal verrucous nevus, lower limb length discrepancy and bilateral genuvalgum, anterior abdominal wall lipomatous mass, central beaking of L2 and L3, and fibrous dysplasia of the left frontal bone. Ocular and dental abnormalities (ptosis, esotropia, delayed canine eruption, dental hypoplasia), ipsilateral asymmetrical deformity of skull, and large left cerebral hemisphere with mild ipsilateral ventriculomegaly were peculiar to him denoting an uncommon phenotype. The parents did not consent for magnetic resonance imaging and genetic studies because of financial constraints. The CLOVES syndrome has emerged as an uncommon yet distinct clinical entity with some phenotypic variations. Its diagnosis is usually from cutaneous, truncal, spinal, and foot anomalies in clinical and radioimaging studies. Proteus syndrome remains the major differential.
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PMID:Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features - An Uncommon Phenotype? 3133 68

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. I report a patient with CdLS who underwent surgical treatment for esotropia and unilateral ptosis with a good surgical outcome.
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PMID:Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome. 3162 Jun 28

Kabuki syndrome is a rare genetic disorder, caused by mutation in the KMT2D or KDM6A genes, which affects several organs in the majority of patients, among which are the eyes. The most typical clinical characteristics are mental retardation, postnatal growth retardation, skeletal anomalies, and characteristic facial features. As the eyes are affected in most of the cases, ophthalmological examination is recommended for the early detection of ocular anomalies, in order to prevent visual impairment. The most frequent ocular signs are strabismus, ptosis, and refractive anomalies. A series of cases of Kabuki syndrome is described in five children, four of whom exhibited strabismus with esotropia, over action of inferior oblique muscles, and under action of superior oblique muscles associated with a V pattern. Most published papers do not report or might underestimate the ocular problems. It may be appropriate to perform orbital magnetic resonances in order to detect changes in the muscle paths that are related to the pathology of the eye movements found.
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PMID:Changes in ocular motility in Kabuki syndrome. 3174 Feb 81

A 5-year-old child having infantile esotropia with bilateral inferior oblique over action underwent uncomplicated strabismus surgery. On the first postoperative day, the child was orthophoric but on day 10, the child was brought with the complaints of severe pain and redness along the original insertion of left medial rectus muscle. Immediate medical management was initiated after appropriate microbiological sampling. Subsequently, on day 13, patient developed sudden discomfort after a bout of violent cough followed by severe pain and discomfort. Slit-lamp examination confirmed the scleral wound dehiscence with vitreous prolapse for which early scleral patch graft within 6 h was performed to achieve optimal visual and cosmetic outcomes.
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PMID:Necrotizing scleritis following uncomplicated strabismus surgery. 3312 Jun 90


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