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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Silent sinus syndrome (SSS) is a rare disease process characterized by progressive enophthalmos and hypoglobus due to ipsilateral maxillary sinus hypoplasia and orbital floor resorption. Patients may also present with eye asymmetry, unilateral ptosis, or diplopia. Most reported cases in the literature describe its occurrence in adults, but it can also affect children. The etiology remains speculative, even though the most accepted theory is that during the first or second decade of life, occlusion of the maxillary ostium causes an interruption in normal sinus development. Williams syndrome (WS) is a rare genetic, multisystem disorder characterized by a constellation of distinctive phenotypic features, including psychomotor delay and cardiovascular abnormalities. We report a case of a 7-year-old female diagnosed at 1 year old with WS and who gradually developed SSS. This last condition was diagnosed at 7 years of age, when she started showing progressive facial asymmetry in addition to typical facial features of WS; subsequent neuroimaging definitively supported the diagnosis. This case report describes for the first time in the literature an uncommon situation in which SSS and WS, both rare syndromes, are present in the same pediatric patient. We speculate that the particular facial features typical of WS could either be the basis of the development of SSS in our patient or make the SSS clinical course more severe, with signs presenting at the age of 7 years. This case report shows for the first time that facial asymmetry in WS can be caused by SSS and highlights the need for early identification of this complication in patients with syndromes characterized by dysmorphic facial features. Further studies are needed to understand whether there is a link between the two syndromes as well as to evaluate the prevalence of SSS in patients with facial dysmorphisms and define the best management.
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PMID:Silent Sinus Syndrome and Williams Syndrome: Two Rare Diseases Found in a Pediatric Patient. 3241 39

We experienced two cases of urethral prolapse misdiagnosed as pelvic organ prolapse. One patient, an 87-year-old woman, was referred to us from a gynecological clinic with a supposed uterine prolapse. The other patient, an 84-year-old woman, was referred to us from the Department of Urology in a general hospital with a supposed recurrence of cystocele following a transvaginal mesh repair. We diagnosed both of them as having a urethral prolapse through pelvic examination and cystoscopy. Both patients were treated uneventfully with the four-quadrant excisional technique. Urethral prolapse is a relatively rare disease and as such, urologists and gynecologists may have little exposure to the symptoms in a clinical setting, resulting to misdiagnosis or delayed diagnosis. We discussed the differential diagnosis of urethral prolapse.
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PMID:[TWO CASES OF URETHRAL PROLAPSE MISDIAGNOSED AS PELVIC ORGAN PROLAPSE]. 3268 86

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads to a systemic accumulation of thymidine and 2'-deoxyuridine and ultimately mitochondrial failure due to a progressive acquisition of secondary mitochondrial DNA (mtDNA) mutations and mtDNA depletion. MNGIE is characterised by gastrointestinal dysmotility, cachexia, peripheral neuropathy, ophthalmoplegia, ptosis and leukoencephalopathy. The disease is progressively degenerative and leads to death at an average age of 37.6 years. Patients invariably encounter misdiagnoses, diagnostic delays, and non-specific clinical management. Despite its rarity, MNGIE has invoked much interest in the development of therapeutic strategies, mainly because it is one of the few mitochondrial disorders where the molecular abnormality is metabolically and physically accessible to manipulation. This review provides a resume of the current diagnosis and treatment approaches and aims to increase the clinical awareness of MNGIE and thereby facilitate early diagnosis and timely access to treatments, before the development of untreatable and irreversible organ damage.
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PMID:Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment. 3291 88


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