Cases reported "Syndrome"

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1/1048. An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.

    OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.
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2/1048. The fourth-compartment syndrome: its anatomical basis and clinical cases.

    We propose a new term, the "fourth-compartment syndrome" to describe chronic dorsal wrist pain of the fourth compartment. Five main causes responsible for this syndrome are thought to be as follows: 1. Ganglion involvement, including an occult ganglion; 2. Extensor digitorum brevis manus muscle; 3. Abnormal extensor indicis muscle; 4. Tenosynovialitis; 5. Anomaly or deformity of carpal bones. Should the above mentioned conditions occur in the fourth compartment, pressure within the fourth compartment increases, ultimately compressing the posterior interosseous nerve directly or indirectly. Anatomical studies of the fourth compartment of the wrist and the posterior interosseous nerve are presented and the fourth-compartment syndrome is summarized with twelve clinical cases (six cases of occult ganglions, two cases of extensor digitorum brevis manus, two cases of tenosynovialitis, one case of abnormal extensor indicis muscle, and one case of carpal bossing).
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3/1048. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.

    PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. methods: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.
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4/1048. Postural hypotension in idiopathic Parkinson's disease. Etiopathology.

    Postural changes in blood pressure were recorded in all 391 patients suffering from Parkinson's syndrome over a period of six years. Intraarterial blood pressure studies were carried out in those with significant postural hypotension. Histological examination of the entire central nervous system and the sympathetic ganglia was performed in six patients suffering from idiopathic Parksinson's disease. Five of the six patients had lewy bodies in the sympathetic ganglia. Loss of nerve cells was noted in the sympathetic ganglia in those patients that demonstrated postural hypotension. The severity of the lesions in the ganglia correlated with the severity of postural hypotension in idiopathic Parkinson's disease, One case of shy-drager syndrome was similarly studied to demonstrate the differences in spinal cord and sympathetic ganglia lesions in the two conditions.
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5/1048. Successful treatment of whiplash-type injury induced severe pain syndrome with epidural stimulation: a case report.

    Chronic severe cervico-facial pain syndrome associated with a whiplash-type injury was successfully treated with epidural spinal cord stimulation. The patient had been in pain for 9 years, responding temporarily only to stellate ganglion blocks. The patient has now been painless for 18 months. We have been unable to find a similar case reported in the literature to date.
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6/1048. Congenital facial neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).

    Four patients with clinical features of Goldenhar-Gorlin syndrome who showed facial paralysis on clinical examination are presented. The fourth case died following surgery for cleft lip. autopsy revealed hypoplasia of the right facial nerve in its intracranial segment, with small right facial nucleus in the brain stem. Nosological aspects of the Goldenhar-Gorlin syndrome are discussed. Peripheral facial paralysis, as a part of this syndrome, is reviewed in the light of clinical and pathological findings and in its relationship to cardiac anomalies. It is suggested that Goldenhar-Gorlin syndrome is a part of a so-called cardiofacial syndrome.
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7/1048. Cutaneomeningospinal angiomatosis (Cobb syndrome) with tethered cord.

    A newborn presented with a skin-covered lumbar mass with a subcutaneous hemangioma and on a magnetic resonance image (MRI) revealed a tethered spinal cord with a local mass. The mass had signal characteristics compatible with a lipoma. An initial diagnosis of a lipomeningocele with tethered cord was made, and the patient underwent surgical exploration and subtotal resection of the mass. A follow-up MRI revealed that the cord was still tethered, but an additional mass was present. The initial mass with signal characteristics of lipomatous tissue was accompanied by a low-signal mass in the lumbosacral canal, ventral to the cord, and bilateral enlargement of the foramina at the lumbosacral level. Because of a concern for an intraspinal tumor, a second operative intervention was performed. Multiple biopsies of the mass inside the spinal cord, the nerve roots and at the level of the foramina revealed angiomas that had similar pathology in all the specimens. A partial resection of the masses and a release of the tethered cord was performed by sectioning the thickened filum terminale. The diagnosis of Cobb's syndrome was made. The unique association of a tethered cord and the Cobb syndrome is reported here.
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8/1048. Long-term outcome of aqueous shunt surgery in ten patients with iridocorneal endothelial syndrome.

    PURPOSE: To report the long-term outcome of ten patients with iridocorneal endothelial (ice) syndrome who underwent aqueous shunt surgery for uncontrolled glaucoma. DESIGN: Noncomparative, retrospective case series. PARTICIPANTS: The authors reviewed charts of ten patients with ice syndrome-related glaucoma who underwent aqueous shunt surgery at one institution between 1987 and 1996. MAIN OUTCOME MEASURES: intraocular pressure (IOP), number of glaucoma medications, and further surgical interventions were measured. RESULTS: With a median follow-up of 55 months, four eyes had adequate IOP control (IOP <21 mm Hg) with one or two medications after the initial aqueous shunt surgery. An additional three eyes achieved adequate IOP control after one or more tube repositionings or revisions of the initial aqueous shunt. In this series, the aqueous shunt surgery most often failed because of blocking of the tube ostium by iris, ice membrane, or membrane-induced tube migration. CONCLUSION: Aqueous shunt surgery appears to be an effective method for IOP lowering in some eyes with ice syndrome-related glaucoma when medical treatment or conventional filtration surgeries fail, but additional glaucoma procedures and/or aqueous shunt revisions and tube repositionings are not uncommon.
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ranking = 0.37234601686976
keywords = block
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9/1048. Capsular block syndrome with external blockage of the capsular opening by a ciliary sulcus fixated posterior chamber lens.

    PURPOSE: To report capsular block syndrome with external blockage of the capsular opening by a posterior chamber lens fixated in the ciliary sulcus. METHOD: Case report. RESULTS: In an 89-year-old man who had undergone cataract surgery, a posterior chamber lens was accidentally fixated in the ciliary sulcus after continuous curvilinear capsulohhexis and phacoemulsification/aspiration. The next day, capsular block syndrome was noted along the posterior chamber lens optic, which was blocking the capsular opening from the outside. CONCLUSION: In all previously reported eyes with capsular block syndrome, the posterior chamber lens had been placed inside the lens capsule to block the continuous curvilinear capsulorhexis opening from the inside.
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10/1048. Interstitial nephritis and uveitis syndrome presenting with bilateral optic disk edema.

    PURPOSE: To report a rare presentation of the tubulointerstitial nephritis and uveitis syndrome. METHOD: Case report. A 34-year-old woman underwent extensive clinical and laboratory evaluation of bilateral intermediate uveitis and optic nerve edema. RESULTS: Laboratory evaluation and nephrology consultation led to a diagnosis of tubulointerstitial nephritis. The condition resolved with the use of topical and systemic corticosteroids and the discontinuation of ibuprofen. CONCLUSIONS: Tubulointerstitial nephritis and uveitis syndrome is uncommon. It may present with anterior or intermediate uveitis. Chronic intermediate uveitis can cause optic nerve and macular edema. A thorough medical evaluation of any patient presenting with uveitis and systemic disease is essential to the diagnosis and management of uveitis.
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