Biliary colonic ileus: an unusual cause of colonic obstruction]

PD 108635 (1) was identified as a potent dopamine D4 ligand and we wanted to replace the benzylic alcohol with a metabolically more stable moiety. Investigations led to the discovery of a series of isoindolinones having D4 affinity.     

Spontaneous gas gangrene: an unusual complication of colonic carcinoma

About two cases of Buschke-Loewenstein tumor--one of the penis in man infected with HIV and another of perianal area-, the authors insist on the relative frequency of Buschke-Loewenstein tumor in non-circumcised and homosexual groups. They emphasize the continuous precancerous spectrum of Buschke-Loewenstein tumor.     

Oral submucous fibrosis: an unusual disease

More then ten year follow up of 154 patients with Itsenko-Cushing disease (ICD) is presented, of whom in 69-one sided and in 89-bilateral transcatheteric transvenous adrenal glands destruction (TTAGD) was done. In 50% of them the remission of disease for a period of 5-10 years was observed.     

Colonic atresia and Hirschsprung's disease association shows further evidence for migration of enteric neurons

The seventh case of colonic atresia and Hirschsprung's disease association is presented. It is proposed that if vascular accident occurs before the eighth week of intrauterine life, it does not only result in atresia but also associates with Hirschsprung's disease.     

Familial occurrence of Hirschsprung's disease

We assessed the familial occurrence of Hirschsprung's disease from 224 probands born in Denmark after 1959. Probands who were still alive received a mailed questionnaire, and medical reports for the probands and their relatives with suspected Hirschsprung's disease were examined. The diagnosis of Hirschsprung's disease required a histologically verified biopsy or surgical colonic specimens, and exclusion of a secondary causes for Hirschsprung's disease. Familial occurrence was seen in 11 families. Ten first-degree, two third-degree and one fifth-degree relatives had Hirschsprung's disease. Both short segment agangliosis (the sigmoid colon or below) and long segment agangliosis (above the sigmoid colon) occurred in five of the 11 families, implying that the etiology of Hirschsprung's disease with short and long segment agangliosis is the same. Compared with the general population, the first-degree relatives of the 224 probands had a minimum of a 93-fold increased risk of Hirschsprung's disease. This strongly suggests that genetic factors play a role in Hirschsprung's disease.     

Genetic aspects of Hirschsprung's disease

Hirschsprung's disease (HD) is a relatively common cause of intestinal obstruction in the newborn, characterized by the absence of autonomic ganglion cells in the terminal bowel. Existence of familial cases indicates that genetic factors may be involved in the etiology of some cases of HD. Different inheritance patterns observed in subsets of HD families or kindreds, and the detection of different chromosome aberrations in some HD patients, suggest genetic heterogeneity of HD. Recent expansion of molecular genetics has identified multiple susceptibility genes of HD. These include the RET gene, the glial cell-derived neurotrophic factor gene, the endothelin-B receptor gene, and endothelin-3 gene. Furthermore, some other genes or genetic factors are speculated to be implicated in the development of HD, and it is believed that multiple factors play a role in disease development in some cases. Taken together, these data suggest and may explain the complexity of the etiology of HD. This review focuses on recent advances in our understanding of the genetic aspects of HD.     

Sj?gren syndrome and subacute demyelinating polyradiculopathy: an unusual association

INTRODUCTION: Sj?gren's syndrome is a chronic inflammatory condition of unknown aetiology and autoimmune pathology. The defining feature is the dry syndrome, expressed as xerophthalmia and xerostomia. Extra-glandular involvement at many other levels may also occur. Neurological involvement is not unusual. The peripheral nervous system is most frequently involved, and a predominantly sensitive symmetrical distal polyneuropathy may be the first sign of the condition. Other patterns of peripheral involvement are also associated with the syndrome. We present a case of subacute demyelinating polyradiculopathy associated with primary Sj?gren's syndrome. CLINICAL CASE: A 28 year old woman with dry syndrome presented with paraesthesia in her hands and feet, distal weakness, which had progressed proximally in the muscles of her arms and legs, and bilateral facial weakness. The condition progressed for eight weeks. When complementary tests were done, alterations typical of this condition (FR, ANA, anti-Ro and anti-La) were seen and also others typical of the dry syndrome (Schirmer's test). Therefore, in view of these findings and the clinical features, after other conditions had been ruled out, a diagnosis of primary Sj?gren's syndrome was made. The type of neuropathy was determined by the clinical features, electromyography and CSF findings. Treatment with corticosteroids gave good results. CONCLUSIONS: Demyelinating polyradiculopathy is a form of peripheral nervous system involvement which is rarely seen in this disorder. In the differential diagnosis Sj?gren's syndrome should be considered, an orientative history taken, autoantibodies determined and an ophthalmological examination made.     

Hemoglobin sickle-lepore: an unusual case of sickle cell disease

We report the case of a newborn with a large left-sided congenital diaphragmatic hernia (CDH) who required extra corporeal membrane oxygenation (ECMO) for severe respiratory insufficiency. CDH repair had to be performed on bypass circulation. Intraoperatively, an atypical hemihepatectomy of the herniated lobe was conducted, because reposition of the liver led to a kinking of the vena cava and to a torsion of the right lobe, resulting in ischemia and compromised venous flow. The extraordinary anatomical indication and the potential danger of uncontrollable bleeding are discussed.     

Congenital leukemia cutis: an unusual manifestation of a rare disease

This paper discusses a case of congenital leukemia cutis of lymphoblastic type presenting as a solitary frontonasal tumor. The presentation is unusual when compared with other reported cases of neonatal leukemia and represents the only reported case with comparable presenting features to the authors' knowledge. The differential diagnosis with other frontonasal tumors is discussed.     

Rectosigmoid lipoma an unusual colonic lipoma. Case report and review of the literature

This is a case report of a male patient admitted with a huge rectosigmoid mass that had eroded into the lumen, causing persistent rectal bleeding. Special procedures such as double contrast Barium Enema, abdomino-pelvic CT-Scan and proctosigmoidoscopy addressed us to identify it as an intramural lipoma. Rectosigmoid lipoma with its differential diagnosis and surgical approach is reviewed together with the most pertinent literature.     

Renal tuberculosis associated with renal adenocarcinoma: unusual association

We present a patient 50 years old, complaining of right lumbar pain and miccional syndrome for three weeks. After analytic and x-ray studies, renal tuberculosis and renal cell carcinoma was the diagnosis. We started with specific antibiotic therapy and a radical nephrectomy was developed. According with the literature revised, just three cases has been published before. Because is an unusual clinic presentation we present these clinical note, we discuss the pathogenic and therapeutic procedures.     

On-table colonic lavage: an alternative

A case is described of acute cerebellar symptoms as the presenting features of Epstein-Barr virus (EBV) infection. Cerebellar encephalitis is discussed with particular reference to EBV infection.     

Castleman disease: 2 unusual cases

Castleman's disease is a localized, rare and benign hyperplasia of the lymph nodes, occurring mainly in the mediastinum. Three histologic types--hyalinvascular, plasmacellular and intermediate--have been recognized. We report on two patients with unusual locations of the disease, i.e. the pelvis and the retroperitoneum respectively. These observations show that diagnosis is difficult. They also indicate that, in selected patients, radiotherapy may induce tumor regression and allow the resection of apparently inoperable lesions.     

Neuronal migrational disorders: diffuse cortical dysplasia or the "double cortex" syndrome

We report a 10-year-old girl who presented with a single episode of partial complex seizure. Neurological examination and psychological evaluation were normal. Electroencephalogram showed abnormalities in the left temporo-occipital region. Magnetic resonance imaging revealed a bilateral layer of tissue iso-intense with gray matter, between the wall of the lateral ventricle and the cortex, extending from the frontal to the occipital region, and enlarged left lateral ventricle. The images indicated diffuse cortical dysplasia, also known as band heterotopia or "double cortex", and left cortical hemiatrophy.     

Ischemic ulcer of stomach and duodenum: an unusual cause of a common disease

Ischemia is a rare cause of gastric and duodenal ulcers. For the present study clinical and anatomo-pathologic data from cases published so far and from twelve own patients with ischemic ulcers have been investigated. Histopathology leads to the diagnosis of an ischemic cause with great accuracy. Our results show that ischemic ulcers occur often at gastric sites unusual for a peptic ulcer, and in some cases they look macroscopically different from peptic ulcers. The most common symptom was severe gastrointestinal bleeding. Pain, typical for peptic ulcers, has only rarely been noted by patients. Lethal courses were usually due to gastrointestinal bleeding resistant to therapy. Resection of the involved gastric or duodenal segment or surgical or angiologic reconstruction of the vessels respectively are promising therapeutic means. Without therapeutic intervention very different courses have been observed, ranging from spontaneous healing to fatal gastrointestinal bleeding. The benefit of inhibitors of acid secretion is so far unclear.     

Fistulas are not always due to Crohn''s disease: an unusual groin abscess

A 53-year-old woman with a complete C-7 traumatic quadriplegia developed progressive neurological deterioration, including bulbar symptoms, 3 years after her initial injury. Magnetic resonance imaging showed tethering of the spinal cord at the level of her injury, with marked stretching of the cervical cord associated with medullary and tonsillar herniation. Following transection of the spinal cord, there was some improvement in her condition. Possible etiological factors accounting for this unique presentation are discussed.