1/61. Idiopathic localized hydromyelia: dilatation of the central canal of the spinal cord of probable congenital origin.Three adult patients are reported with asymptomatic localized widening of the central canal of the spinal cord. These patients were followed for a period of 24 years by imaging and/or clinical history and physical examination without evidence of signs or symptoms related to the spinal cord. This condition probably represents persistence into adult life of a fetal configuration of the central canal of the spinal cord. This process may be termed "idiopathic localized hydromyelia" to distinguish it from syringomyelia secondary to such causes as Chiari malformation, trauma, infection, or neoplasm.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/61. Dieulafoy's lesion of the jejunum.Dieulafoy's lesion is a rare vascular anomaly but a potentially life-threatening disease. This lesion can also be found in the small intestine, which can be diagnosed only by angiography. However, the angiography may be normal when the bleeding is inactive. We report a case of jejunal Dieulafoy's lesion with a repeated attack of massive gastrointestinal bleeding with a normal initial angiography. The pathological examination found an unusual picture as a dilated submucosal vessel protruded like a submucosal tumor.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
3/61. Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family.The mitochondrial (mt) 3243 dna mutation is an underlying cause of maternally inherited diabetes and deafness (MIDD) syndrome and the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). We report an affected German MIDD pedigree with maternal lineage over three generations. The index patient, her mother, her maternal aunt and her maternal grandmother all suffered from diabetes and premature hearing loss and were positive on testing for the mt 3243 dna mutation. The 27-year-old index patient had a history of grand mal seizures. As sequela of abdominal ultrasound and confirmed by magnetic resonance cholangio-pancreaticography, she was diagnosed with chronic pancreatitis with pancreatic calcifications and pancreatic duct dilation, although she was completely asymptomatic and with no signs of steatorrhoea. She did not have gallstones and the common bile duct was normal. A possible etiopathogenic pathway for pancreatitis could be a suppressive effect of the mt 3243 mutation on the oxidative phosphorylation in affected mitochondria. Although pancreatitis and pancreatic dysfunction in association with the mt 3243 mutation, especially in patients with comorbidity of MELAS and diabetes, has previously been described as a rare manifestation, this case is specific because of the discrepancy of advanced morphological pancreatic alterations and complete lack of pancreatogenic symptoms.- - - - - - - - - - ranking = 116.05165289256keywords = family (Clic here for more details about this article) |
4/61. Late onset X-linked hydrocephalus with normal cerebrospinal fluid pressure.A family with X-linked hydrocephalus with normal cerebrospinal fluid (CSF) pressure and in which three brothers and a grandson of case 1, a proband, were affected is reported. The symptoms at onset were epileptic attacks that started in adulthood in the three brothers and at the age of 6 years in the grandson. In the three brothers, from 10 to 27 years after the onset of epileptic episodes, disorganization of intelligence and psychiatric deterioration were gradually noticed by their families. At the same time, they showed occasional urinary incontinence. brain computed tomography (CT) scans revealed dilatation of the ventricular systems. Based on the results of the measurement of CSF pressure and radioactive-iodinated human serum albumin (RISA)-cysternography, two of the brothers were diagnosed as having normal pressure hydrocephalus (NPH), and they were treated neurosurgically. However, no obvious improvement in clinical symptoms was observed. Although the grandson had shown normal psychomotor development during his early childhood, temporal epilepsy and temper tantrums started at the age of 6 years. Computed tomography-scanning revealed dilatation of the ventricular system similar to the other three cases at the age of 8 years. With the diagnosis of NPH, the patient underwent a shunt operation, which resulted in no obvious effects. As it is reasonable to surmise that the pathological gene would have been transferred via the daughter of the proband to the grandson, it is suggested that the inheritance manner might be X-linked recessive. The cases presented here are different from the cases of hydrocephalus due to stenosis of the aqueduct Sylvius (HSAS) and other types of X-linked hydrocephalus reported previously in terms of the age of onset, course, symptoms, and CT findings. Thus, it is suggested that the present cases might be a new type of X-linked hydrocephalus.- - - - - - - - - - ranking = 29.01291322314keywords = family (Clic here for more details about this article) |
5/61. Ballooned trachea caused by cuffed tracheostomy tube.Despite the dramatic decrease in cuff-related complications with the introduction of high-volume low-pressure devices for intubation and tracheostomy, notable problems can still occur. A case is reported of a patient who developed persistent dilatation of the trachea after prolonged mechanical ventilation. This is an under-recognized, life threatening clinical entity occurring after cuffed intubation for prolonged time. At present there is no definitive treatment regarding the management of a dilated trachea on a ventilator-dependent patient and therefore emphasis is directed at prevention. The patient presented was managed with periodical alterations of the cuff level which although not achieving any reversal of the dilatation, have prevented further progression of tracheal damage. During the follow-up period, regular assessment with flexible endoscopy has provided more reliable information on the condition of the trachea than computed tomography (CT) scanning.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
6/61. Familial idiopathic dilatation of the right atrium with complete atrio-ventricular block: a new syndrome?Familial occurrence of idiopathic dilatation of the right atrium is extremely rare. This is the first description of a family in which 2 siblings had a syndrome of idiopathic dilatation of the right atrium associated with complete atrio-ventricular block. The family workup did not show other family members to be affected, and the question we raise is whether or not this might be a new syndrome.- - - - - - - - - - ranking = 87.038739669421keywords = family (Clic here for more details about this article) |
7/61. Ventriculomegaly and pericerebral CSF collection in the fetus: early stage of benign external hydrocephalus?BACKGROUND AND PURPOSE: Mild ventricular dilatation or an asymmetric aspect of the atrium with prominent subrachnoid spaces is a challenging clinical condition in utero that requires prenatal MRI to rule out a destructive lesion or brain malformation. We report five cases that demonstrated benign external hydrocephalus postnatally, together with the prenatal MRI to define prenatal criteria of so-called benign external hydrocephalus. methods AND RESULTS: The prenatal MR images of five cases showing typical features of external hydrocephalus postnatally were reviewed. All cases showed in utero mild ventricular dilatation at the level of the atrium with enlargement of the subarachnoid spaces homo-, contra- or bilaterally, and predominantly in the parietooccipital areas. The head circumference was normal in all cases with no family history of macrocephaly. MRI did not demonstrate either abnormal signal within brain parenchyma or loss of the normal layering of the developing brain. CONCLUSION: Posterior mild ventricular dilatation and prominent subarachnoid spaces in a posterior distribution can be considered an early stage of benign external hydrocephalus that is nicely illustrated by MRI.- - - - - - - - - - ranking = 29.01291322314keywords = family (Clic here for more details about this article) |
8/61. A spectrum of renal tubular ectasia and hepatic fibrosis.Renal tubular cystic disease and hepatic fibrosis exhibit a specific genetic pattern and pathological findings. The renal collecting tubules are dilated and the liver shows fibrosis with proliferation and dilatation of the bile ducts. The findings fall into a spectrum with marked renal disease and mild liver involvement at one end and mild renal involvement with severe liver disease at the other. Between these extremes lies an intermediate form which is genetically and pathologically similar, but exhibits a wide range of clinical and radiological findings due to the variability of renal and liver involvement.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/61. Rapid normalization of marked dilatation of the cerebral duro-venous system in a newborn infant mimicking a great vein of Galen varix.A newborn infant with a marked dilatation of the cerebral duro-venous system is presented. The patient was diagnosed as having a vein of Galen aneurysmal varix by a cranial ultrasound examination immediately following delivery. Computed tomographic angiography on the following day, however, showed a marked dilatation of the cerebral duro-venous system, including the great vein of Galen, superior sagittal sinus, torcular herophili and transverse sinuses. There were no arteriovenous fistulas at the vein of Galen. dilatation of the duro-venous system and concomitant heart failure subsided rapidly after intravenous administration of indomethacin for the treatment of the patent ductus arteriosus on the fourth day of life. dilatation of the duro-venous system in a newborn infant should be differentiated from any form of vein of Galen aneurysm.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
10/61. Retinal ischemia in diabetic retinopathy.Eight patients with proliferative diabetic retinopathy developed extensive retinal arteriolar and capillary obstruction. ophthalmoscopy showed many white, thread-like retinal arterioles associated with capillary and venous dilatation. Widespread retinal arteriolar and capillary nonperfusion was demonstrated by fluorescein angiography. Ischemic maculopathy resulted in severe loss of visual acuity in some eyes. The severe degree of retinal ischemia was accompanied by optic disc pallor and neovascularization and a high incidence of rubeosis iridis with neovascular glaucoma. patients with this variety of diabetic retinopathy have a poor prognosis of retaining useful vision.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
| | Next -> |