1/318. Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction.We report the case of a 3-year-old girl, the only child of a nonconsanguineous couple without relevant antecedents, who was born with hydranencephalic-hydrocephalic syndrome diagnosed by ultrasonography at gestation week 28, and who was treated during the neonatal period by implantation of a ventriculoperitoneal shunt. She showed severe mental retardation, and died at age 4 years following an acute respiratory infection. Due to persistently high lactic acid levels in blood, muscle and skin biopsies were taken. Analysis of muscle biopsies revealed microscopic and ultrastructural alterations typical of mitochondrial disorders, and low levels of complexes III and IV of the mitochondrial respiratory chain. The enzymes of the pyruvate dehydrogenase complex showed normal activities in cultured skin fibroblasts. These findings raise the possibility that at least some cases of congenital hydranencephalic-hydrocephalic syndrome may be due to alterations in the mitochondrial respiratory chain.- - - - - - - - - - ranking = 1keywords = hunt (Clic here for more details about this article) |
2/318. 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 = 4.3446161008255keywords = paralysis (Clic here for more details about this article) |
3/318. 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 = 11keywords = hunt (Clic here for more details about this article) |
4/318. Moebius syndrome: the new finding of hypertrophy of the coronoid process.The first detailed description of congenital facial paralysis was reported by Moebius in 1888. It is characterized by either unilateral or bilateral paralysis of the facial muscles and an associated abducens palsy. The present report is of two patients with Moebius syndrome, who were also diagnosed with trismus at birth. Each patient also demonstrated bilateral hypertrophy of the coronoid process of the mandible. In effect, the zygoma obstructed the excursion of the mandible because of a "coronoid block." A three-dimensional computed tomography scan demonstrated normal temporomandibular joints but bilateral hypertrophy of the coronoid processes and micrognathia. Both patients demonstrated less than 10 mm of oral excursion. Bilateral coronoidectomies were performed through an intraoral approach. The oral excursions after surgery increased to at least 20 mm. In each of these patients, the coronoid process was enlarged relative to the zygoma, which was of normal size and configuration. The trismus was associated with blocking of the coronoid by the anterior zygoma, preventing open or full excursion of the hypoplastic mandibles. Moebius syndrome can have a variable presentation at birth. In two patients, the authors describe a new finding of hypertrophy of the coronoid process and trismus secondary to obstruction of the coronoid by the hypertrophic zygomas during oral excursions. Each patient is described, and a review of the literature is discussed.- - - - - - - - - - ranking = 4.3446161008255keywords = paralysis (Clic here for more details about this article) |
5/318. andersen syndrome autosomal dominant in three generations.andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and sudden death have also been reported. The recognition of the characteristic face permits an early diagnosis in order to detect the severe systemic manifestations that are associated with this syndrome. The genetic defect is not linked to any other form of potassium sensitive periodic paralysis nor is it related to that of the long qt syndrome; nevertheless, a prolonged QT interval can be detected in a significant proportion of the cases. Sixteen cases of this syndrome have been described. We report on a three-generation family with 10 affected members. To our knowledge, this is the largest number of cases reported in one family. We noted some additional minor anomalies such as broad forehead and malar hypoplasia. Our patients had variable expression in the classical triad and of the severity of the systemic manifestations. Five of 8 affected studied members did not have a long QTc, which has been suggested as a constant finding in this syndrome.- - - - - - - - - - ranking = 4.3446161008255keywords = paralysis (Clic here for more details about this article) |
6/318. survival associated with hepatorenal syndrome.We have described an advanced case of type A2 hepatorenal syndrome with subsequent recovery. The renal failure in this syndrome is secondary to the hepatic failure. In this patient, renal support was afforded by peritoneal dialysis, while hepatic recovery was facilitated by takedown of a jejunoileal shunt and by intravenous hyperalimentation. As liver function returned toward the normal range, renal function improved. Reversal of hepatic dysfunction is critical for reversal of hepatorenal syndrome of the type A2 variety.- - - - - - - - - - ranking = 1keywords = hunt (Clic here for more details about this article) |
7/318. Neurofibromatosis, stroke and basilar impression. Case report.Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.- - - - - - - - - - ranking = 2.1723080504128keywords = paralysis (Clic here for more details about this article) |
8/318. nitric oxide successfully used to treat acute chest syndrome of sickle cell disease in a young adolescent.OBJECTIVES: To report a case of acute chest syndrome (ACS) of sickle cell disease treated successfully with nitric oxide and to review the physiologic effects of nitric oxide and its potential ability to improve outcome in ACS. DESIGN: Descriptive case report. SETTING: Eighteen-bed pediatric intensive care unit in a university children's hospital. PATIENT: A 15-yr-old black male with sickle cell disease, bilateral pulmonary infiltrates, refractory hypoxemia, and unstable hemodynamics. INTERVENTION: In addition to exchange transfusion, invasive hemodynamic monitoring, and aggressive ventilatory support, inhaled nitric oxide was administered in the gas mixture in a concentration of 20 ppm for 72 hrs. MEASUREMENTS AND MAIN RESULTS: cardiac output, pulmonary arterial pressure, pulmonary artery occlusion pressure, systemic vascular resistance, pulmonary vascular resistance, shunt fraction, and alveolar-arterial oxygen gradient were compared with and without inhaled nitric oxide. Marked reductions in pulmonary arterial pressure and pulmonary vascular resistance were noted. cardiac output improved, and shunt fraction and alveolar-arterial oxygen gradient were markedly reduced. The patient required decreased ventilator and hemodynamic support and rapidly made a complete recovery. CONCLUSIONS: nitric oxide may be beneficial for patients with ACS because of its ability to ameliorate pulmonary hypertension and ventilation/perfusion mismatch. nitric oxide may confer some protection against polymerization of sickle hemoglobin and exert a reversible antiplatelet effect that may be beneficial in ACS. Further study is necessary to determine the safety and efficacy of inhaled nitric oxide as a treatment for ACS.- - - - - - - - - - ranking = 2keywords = hunt (Clic here for more details about this article) |
9/318. CT study of closure of the hemipharynx with head rotation in a case of lateral medullary syndrome.In a patient with unilateral pharyngeal paralysis, rotation of the head to the paralyzed side can effectively close the hemipharynx on that side. However, the exact level or place of closure is unknown. Serial computed tomography of the pharynx in a patient with lateral medullary syndrome showed that hemipharyngeal closing occurred at the level of the hyoid bone, or the hypopharyngeal cavity above the pyriform sinus, and that the entire space of the bilateral pyriform sinuses remained open despite the head rotation.- - - - - - - - - - ranking = 2.1723080504128keywords = paralysis (Clic here for more details about this article) |
10/318. Successful transcutaneous arterial embolization of a giant hemangioma associated with high-output cardiac failure and kasabach-merritt syndrome in a neonate: a case report.We describe the case of a patient with a neonatal giant cutaneous hemangioma with high-output cardiac failure and kasabach-merritt syndrome and successfully treated with transcutaneous arterial embolization aimed at controlling severe congestive heart failure and consumption coagulopathy. A patient was admitted to the neonatal care unit on the first day of age because of a large hemangioma on his right lateral chest wall and respiratory distress, associated with cardiac failure resulting from arteriovenous shunting. On the second day of age the platelet count decreased to 5.7 x 10(4)/microliter and fibrinogen level was 85 mg/dl. The values of prothrombin time and activated partial thromboplastin time were prolonged. Intravenous predonisone therapy was started immediately, but bleeding tendency was getting worse and the evidence of congestive heart failure persisted. On the third day the patient then underwent embolization of feeding arteries with microcoils. The cardiac failure and thrombocytopenic coagulopathy had improved significantly without complications. We conclude that transcutaneous arterial embolization is an effective and safe treatment in this neonate and should be considered for the treatment of control high-output cardiac failure and coagulopathy in infants with hemangioma and kasabach-merritt syndrome.- - - - - - - - - - ranking = 1keywords = hunt (Clic here for more details about this article) |
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