1/215. hypersensitivity reaction in a child due to lamotrigine.Lamotrigine is an anticonvulsant with a broad spectrum of activity that has been approved in the united states for use in adults with either partial or generalized seizures. This drug is being widely prescribed by pediatricians and neurologists because it is effective in children with idiopathic, resistant, generalized seizures and does not impair cognition. As with other anticonvulsants, a hypersensitivity syndrome has been described. Anticonvulsant hypersensitivity syndrome consists of the hallmark features of fever, rash, and lymphadenopathy. We report the first case of hypersensitivity syndrome in a child due to lamotrigine in which we believe the coadministration of valproic acid increased the duration of the reaction. Our patient had a high spiking fever, generalized morbilliform eruption, facial edema, lymphadenopathy, eosinophilia, atypical lymphocytosis, and an elevation in his liver function tests. The syndrome resolved with the discontinuation of the medication. Anticonvulsant hypersensitivity syndrome may occur with the administration of lamotrigine. Variable presentations may be seen, as hypersensitivity syndromes may be multisystem in nature. The prompt recognition of the signs and symptoms of this condition allows an accurate diagnosis so that the drug may be discontinued and other anticonvulsant treatment options instituted.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/215. endosonography in the diagnosis of "blue rubber bleb nevus syndrome": an uncommon cause of gastrointestinal tract bleeding.Blue rubber bleb nevus syndrome is a rare condition characterized by the presence of multiple angiomatic lesions of the skin. These are associated with similar lesions in other organs, namely in the gastrointestinal tract, causing anemia through chronic bleeding. We describe the case of a 72-year-old woman with microcytic anemia. A barium study revealed irregular lacunae in the distal esophagus. A subsequent endoscopy showed blue nodular lesions similar to angiomas of the esophagus and stomach fundus. endosonography confirmed its angiomatic nature. Exploration of other organs, using magnetic resonance and cranial computed tomography, did not reveal the presence of this type of lesion. In physical examination, two angiomatic lesions were observed on the face and lips, respectively. These were blue in color and compressible, leaving an empty wrinkled sac that rapidly refilled, typical of angiomas.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/215. Hughes-Stovin syndrome: a case report and review of the literature.A young man presented with prolonged pyrexia, recurrent optic neuritis, thrombophlebitis and bilateral pulmonary artery aneurysms with thrombus formation. The life-threatening hemoptysis necessitated mechanical ventilatory support and emergency left lower lobectomy. Systemic corticosteroids conferred clinical improvement and reduction of the remaining right pulmonary artery aneurysm. The patient eventually succumbed to sudden massive hemoptysis. This report underscores the unpredictable nature of this syndrome and emphasises the need for aggressive surgical intervention of pulmonary artery aneurysms in Hughes-Stovin syndrome.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/215. Asymptomatic hyponaturemia in a patient with mild head injury due to syndrome of inappropriate diuretic hormone--a case report.hyponatremia is commonly seen in patients with severe and moderate head injury, but it is rarely reported in those with mild head injury. The authors report a patient with mild head injury who presented with data typical of inappropriate secretion of antidiuretic hormone (SIADH), but showed no clinical deterioration. Though the clinical significance of this condition is unclear, the true incidence of this pathology might well be found to be higher than expected, should it receive more clinical and/or serological attention. Continuing clinical assessment will be needed to determine the significance of this condition in relation to that in patients with SIADH following the various causes reported previously.- - - - - - - - - - ranking = 4keywords = nature (Clic here for more details about this article) |
5/215. Acrochordons are not a component of the birt-hogg-dube syndrome: does this syndrome exist? case reports and review of the literature.Multiple fibrofolliculomas, trichodiscomas, and acrochordons compose the triad of cutaneous lesions characterizing the birt-hogg-dube syndrome, inherited in an autosomal dominant fashion. We report a case of a family who had the triad of tumors of the birt-hogg-dube syndrome. Two members were observed clinically and histologically. Biopsies of the facial papules disclosed features of the fibrofolliculoma/trichodiscoma spectrum. Lesions that were clinically acrochordon-like proved to correspond to the same histopathologic spectrum. The characterization of the nature of the acrochordon-like lesions in our patients and the review of the literature allow us to question if acrochordons (skin tags) should be maintained as a component of this association. In light of our conclusion that fibrofolliculoma, trichodiscoma, and the acrochordon-like lesions are histologic variations of a single lesion, we further question whether the term "syndrome" is valid.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/215. Ballooning posterior leaflet syndrome: syncope and sudden death.Two of four patients with ballooning posterior leaflet syndrome died suddenly and the remaining two developed a near-fatal arrhythmia. These four patients demonstrate the potentially fatal nature of the ballooning posterior leaflet syndrome.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/215. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/digeorge syndrome I and digeorge syndrome II loci.Over 90% of patients with digeorge syndrome (DGS) or velocardiofacial syndrome (VCFS) have a microdeletion at 22q11.2. Given that these deletions are difficult to visualize at the light microscopic level, fluorescence in situ hybridization (FISH) has been instrumental in the diagnosis of this disorder. Deletions on the short arm of chromosome 10 are also associated with a DGS-like phenotype. Since deletions at 22q11.2 and at 10p13p14 result in similar findings, we have developed a dual-probe FISH assay for screening samples referred for DGS or VCFS in the clinical laboratory. This assay includes two test probes for the loci, DGSI at 22q11.2 and DGSII at 10p13p14, and centromeric probes for chromosomes 10 and 22. Of 412 patients tested, 54 were found to be deleted for the DGSI locus on chromosome 22 (13%), and a single patient was found deleted for the DGSII locus on chromosome 10 (0. 24%). The patient with the 10p deletion had facial features consistent with VCFS, plus sensorineural hearing loss, and renal anomalies. cytogenetic analysis showed a large deletion of 10p [46, XX,del(10)(p12.2p14)] and FISH using a 10p telomere region-specific probe confirmed the interstitial nature of the deletion. Analysis for the DGSI and the DGSII loci suggests that the deletion of the DGSII locus on chromosome 10 may be 50 times less frequent than the deletion of DGSI on chromosome 22. The incidence of deletions at 22q11.2 has been estimated to be 1 in 4000 newborns; therefore, the deletion at 10p13p14 may be estimated to occur in 1 in 200,000 live births.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/215. Cochlear deafness in a Chinese family with Fechtner's syndrome.OBJECTIVE: To identify the nature of the hearing impairment in the members of a Chinese family with Fechtner's syndrome. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. patients: A Chinese family with a variant of Alport's syndrome: high-tone sensorineural hearing loss, proteinuria, macrothrombocytopenia, and ocular disease. INTERVENTIONS: The diagnosis of Fechtner's syndrome was confirmed by the characteristic ultrastructure of the Dohle-like inclusion bodies in the neutrophils of the mother and her three children. Pure-tone audiometry, evoked response audiometry (ERA), and distortion product otoacoustic emissions (DPOAE) were performed in two subjects to investigate the hearing impairment. MAIN OUTCOME MEASURE: The parameters of the ERA and DPOAEs were correlated. RESULTS: In both subjects, the ERA was within normal limits, and there were no measurable DPOAEs in frequencies >2 kHz. CONCLUSION: The hearing loss in Fechtner's syndrome is cochlear rather than neural.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/215. Two apparent suprarenal masses. Two cases in children: heterotaxy syndrome with spleen lying in suprarenal space and gastric duplication cyst lying in suprarenal space.Two children had suprarenal masses detected when US was performed because of nonabdominal anomalies or lesions. Additional imaging was required in each to determine the nature of the masses: an ectopic (right-sided) spleen and a gastric duplication.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
10/215. Redo Bentall operation for the aortitis syndrome.The aortitis syndrome is a chronic inflammatory arterial disease with an unknown etiology that may present as a variety of vascular lesions. The surgical treatment of aortitis syndrome is associated with many potential difficulties due to the inflammatory nature of the disease. A patient with the aortitis syndrome underwent the Bentall operation for annulo-aortic ectasia and aortic regurgitation 11 years prior to presentation. The operation was not performed during the active inflammatory phase. An anastomotic dehiscence required reoperation, which was performed with Piehler's method. In the aortitis syndrome, the exclusion technique, Carrel patch repair of the coronary arteries and pledgeted anastomoses should be performed for aortic root reconstruction.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
| | Next -> |