1/907. 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.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/907. 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).- - - - - - - - - - ranking = 2keywords = nerve (Clic here for more details about this article) |
3/907. 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.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
4/907. 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.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
5/907. 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.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
6/907. 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.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
7/907. 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.- - - - - - - - - - ranking = 0.4353771093401keywords = median (Clic here for more details about this article) |
8/907. 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.- - - - - - - - - - ranking = 2keywords = nerve (Clic here for more details about this article) |
9/907. Marin-Amat syndrome: case report and review of the literature.We report a 10-year-old girl with Marin-Amat syndrome, a rare facial synkinesis sometimes referred to as the inverted Marcus Gunn phenomenon. Symptoms were apparent 6 months following unilateral peripheral facial nerve palsy. Her facial synkinesis failed to improve, despite improvement in her facial palsy consistent with an aberrant regeneration of the facial nerve. The clinical Several neurologic syndromes feature abnormal interactions, or synkinesis, between anatomically proximate muscle groups. Among these, the Marcus Gunn phenomenon (trigemino-oculomotor synkinesis) is one of the best described in children. The Marcus Gunn phenomenon, or 'jaw-winking phenomenon,' consists of unilateral congenital ptosis and retraction of the ptotic lid upon moving of the lower jaw. Although many adults have been reported with this synkinesis, it is usually most prominent in newborn infants, in whom rapid spasmodic movements of the lid are seen during periods of nursing. In general, the Marcus Gunn phenomenon is unilateral and sporadic although familial and bilateral cases have been reported. Marin-Amat syndrome (or 'inverse Marcus Gunn phenomenon') is a rarely reported synkinesis in which one eyelid closes upon full opening of the jaw or movement of the jaw laterally. We now report a 10-year-old patient who began to develop features of Marin-Amat syndrome involving the right eyelid 1 month following right facial nerve palsy. This is the first documented report of this syndrome in a child.- - - - - - - - - - ranking = 3keywords = nerve (Clic here for more details about this article) |
10/907. Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs.PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. methods: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
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