1/1127. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.Two siblings manifested a neuro-haematologic syndrome characterised by low birth weight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia and pancytopenia without either telangiectasia or chromosomal instability. One sibling died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of purkinje cells and minimal gliosis. A surviving sibling has shown haematologic progression to a myelodysplastic disorder. There was no evidence of any chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. monosomy-7 was not present in the surviving sibling. We suspect that these two patients represent another example of the rare Hoyeraal-Hreidarsson syndrome and we are currently engaged in very close monitoring of the surviving sibling for evidence of any karyotypic abnormality.- - - - - - - - - - ranking = 1keywords = ulcer (Clic here for more details about this article) |
2/1127. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.- - - - - - - - - - ranking = 13.614428534484keywords = stenosis (Clic here for more details about this article) |
3/1127. Two similar cases of encephalopathy, possibly a reversible posterior leukoencephalopathy syndrome: serial findings of magnetic resonance imaging, SPECT and angiography.Two young women who had encephalopathy that resembled reversible posterior leukoencephalopathy syndrome are presented. The brain magnetic resonance imaging (MRI) of these patients exhibited similar T2-high signal lesions, mostly in the white matter of the posterior hemispheres. Xe-SPECT during the patients' symptomatic period showed hypoperfusion in the corresponding areas, and angiography demonstrated irregular narrowing of the posterior cerebral artery. Clinical manifestations subsided soon after treatment, and the abnormal radiological findings also were almost completely resolved. Thus, we concluded that transient hypoperfusion followed by ischemia and cytotoxic edema might have had a pivotal role in these cases.- - - - - - - - - - ranking = 15.850271864734keywords = artery (Clic here for more details about this article) |
4/1127. Gross hematuria of uncommon origin: the nutcracker syndrome.Left renal vein hypertension, also called "nutcracker phenomenon" or "nutcracker syndrome," is a rare vascular abnormality responsible for gross hematuria. The phenomenon is attributable to the idiopathic decrease in the angle between the aorta and the superior mesenteric artery with consequent compression of the left renal vein. The entrapment of the left renal vein is not easily detectable by ordinary diagnostic procedures. We report two cases of gross hematuria (persistent in one patient and recurrent in the other) caused by "nutcracker phenomenon." In both cases, no remarkable findings were obtained from medical history, urinary red blood cells morphology, repeated urinalysis, pyelography, cystoscopy, or ureteroscopy. Left renal vein dilation in one case was found with a computed tomography (CT) scan performed on the venous tree of left kidney. The diagnosis of "nutcracker phenomenon" was confirmed by renal venography with measurement of pressure gradient between left renal vein and inferior vena cava in both cases. In one case, the diagnosis was complicated by the presence of mycobacterium tuberculosis in urine. The "nutcracker phenomenon" is probably more common than thought. early diagnosis is important to avoid unnecessary diagnostic procedures and complications such as the thrombosis of the left renal vein. Many procedures are available to correct the compression of the left renal vein entrapped between the aorta and the superior mesenteric artery: Gortex graft vein interposition, nephropexy, stenting, and kidney autotransplantation. After surgery, gross hematuria ceases in almost all patients.- - - - - - - - - - ranking = 31.700543729467keywords = artery (Clic here for more details about this article) |
5/1127. 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 = 127.84878188594keywords = carotid (Clic here for more details about this article) |
6/1127. hepatic encephalopathy--a physostigmine-reactive central anticholinergic syndrome?This report describes an association between hepatic encephalopathy and central anticholinergic syndrome (CAS). A 60-year-old anaemic woman was admitted unconscious and with a delayed reaction to pain but with no focal neurological deficits. She had signs of portal hypertension and a history of non-alcoholic liver cirrhosis grade child B. Suspecting upper gastro-intestinal bleeding, she was intubated for gastro-duodenoscopy and a fibrin-covered ulcer was revealed. Raised intra-abdominal pressure resulting from ascites caused cardiopulmonary failure, which required mechanical ventilation for 24 h, but extubation was possible after drainage of the ascites and blood volume replacement therapy. However, her neurological state remained unchanged despite normal blood ammonia concentration and no sedation. CAS was considered and physostigmine injected with immediate effect. The patient opened her eyes immediately and was fully orientated to personal and medical history. We suggest that hepatic encephalopathy may trigger CAS, although the significance of physostigmine in the treatment of hepatic encephalopathy remains to be addressed by controlled investigations.- - - - - - - - - - ranking = 1keywords = ulcer (Clic here for more details about this article) |
7/1127. Thalamic hemorrhage following carotid endarterectomy-induced labile blood pressure: controlling the liability with clonidine--a case report.Carotid endarterectomy can lead to alterations in baroreceptor sensitivity. Impairment of this sensitivity can in turn lead to volatility of blood pressure (baroreflex failure syndrome--BFS). Rapid elevations in blood pressure can cause hypertensive encephalopathy in a patient with BFS. A patient is presented with hypertensive intracerebral hemorrhage associated with BFS.- - - - - - - - - - ranking = 511.39512754374keywords = carotid (Clic here for more details about this article) |
8/1127. A case of lateral facial clefts with Fallot tetralogy, duodenal stenosis and intestinal malrotation: a new multiple congenital anomaly syndrome?Multiple congenital malformations in a Caucasian female infant are described which include lateral facial clefts, malformed external ears, cleft palate, Fallot tetralogy, duodenal stenosis and intestinal malrotation. There were no associated limb or spinal anomalies. This case appears to be an example of a new multiple congenital anomaly syndrome.- - - - - - - - - - ranking = 68.072142672418keywords = stenosis (Clic here for more details about this article) |
9/1127. Treatment of may-thurner syndrome with catheter-directed thrombolysis and stent placement, complicated by heparin-induced thrombocytopenia.may-thurner syndrome is an uncommon process in which the right common iliac artery compresses the left common iliac vein, resulting in left iliofemoral deep vein thrombosis and severe leg edema. We report the case of a 41-year-old female who presented with severe left leg edema present for 1 day. One week earlier she had experienced acute shortness of breath and pleuritic chest pain. Duplex ultrasound revealed a left iliofemoral deep vein thrombosis. A computed tomography (CT) scan performed for abdominal pain revealed thrombosis of the entire left common and external iliac veins. A ventilation-perfusion scan diagnosed a pulmonary embolism. The patient was treated with systemic intravenous heparin and catheter-directed thrombolysis of the iliofemoral deep vein thrombosis. Complete thrombolysis and iliofemoral vein patency was achieved over 5 days. A persistent stenosis in the left common iliac vein consistent with may-thurner syndrome was alleviated with percutaneous balloon angioplasty and placement of a Wallstent. heparin therapy was terminated at the time of stenting because of suspected heparin-induced thrombocytopenia. The patient was started on a continuous infusion of 10% dextran 40, and warfarin therapy was initiated. heparin-induced antibodies were confirmed by a C-14 serotonin release assay. The endovascular reconstruction remains patent 4 months later. heparin-induced thrombocytopenia complicating endovascular reconstruction of the iliofemoral venous system in a patient with may-thurner syndrome is an uncommon occurrence. This case and a review of the literature are discussed.- - - - - - - - - - ranking = 29.464700399217keywords = artery, stenosis (Clic here for more details about this article) |
10/1127. A case of vasospastic angina presenting Brugada-type ECG abnormalities.An electrophysiological study and a provocative test of coronary artery spasm was attempted in a 68-year-old man who was having syncopal attacks and chest pain. His electrocardiogram had the characteristics of brugada syndrome and ventricular fibrillation (VF) was induced by programmed electrical stimulation. ST-segment elevation became exaggerated by procainamide, which could not prevent the induction of VF. coronary angiography revealed no stenotic lesions, and spasm in the left coronary artery was induced by intracoronary administration of acetylcholine with similar chest pain to that experienced before. Under treatment with diltiazem and flecainide, which suppressed the induction of VF, the patient experienced no recurrence of symptoms despite persistent ST-segment elevation. No previous reports have described coronary spasm associated with Brugada-type ECG abnormalities, and patients with syncope should be evaluated carefully.- - - - - - - - - - ranking = 31.700543729467keywords = artery (Clic here for more details about this article) |
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