Esophageal leiomyomatosis

PURPOSE: To reassess the clinical and radiologic findings in patients with esophageal leiomyomatosis. MATERIALS AND METHODS: A search of the authors' radiologic archives revealed six cases of esophageal leiomyomatosis in a 22-year period. The clinical findings and radiologic images were reviewed retrospectively. RESULTS: The average age of the patients was 10.8 years (range, 6-18 years). Five patients presented with slowly progressive dysphagia. Barium studies revealed smooth, tapered narrowing of the distal esophagus in five patients and characteristic defects on the superomedial aspect of the gastric fundus abutting the cardia, presumably due to bulging of this thickened mass of muscle into the stomach, in four patients. In two patients, computed tomography (CT) revealed marked thickening of the distal esophageal wall. CONCLUSION: Esophageal leiomyomatosis can be suggested in a pediatric patient with long-standing dysphagia in whom smooth, tapered distal esophageal narrowing is seen at barium study and circumferential esophageal wall thickening is seen at CT.     

Treatment of malignant esophageal obstructions with covered metallic Z stents: long-term results in 52 patients

PURPOSE: To prospectively evaluate the clinical efficacy of silicone-covered Gianturco-R?sch self-expandable Z (GRZ) stents in the treatment of malignant esophageal obstruction. PATIENTS AND METHODS: GRZ stents were placed in 52 patients (39 men, 13 women) with severe dysphagia due to high-grade malignant esophageal obstruction. RESULTS: Stent placement was technically successful, and immediate relief of dysphagia was achieved in 50 of 52 patients (96%), with long-term relief in 47 patients (90%). Fifty-one patients (98%) died during follow-up (range, 1 week to 33 months; mean, 4.3 months). Late complications were most prevalent and included stent migration (n = 5), food impaction (n = 2), chest pain (n = 2), membrane disruption with tumor ingrowth (n = 1), granulomatous reaction above the stent (n = 1), esophageal perforation with mediastinitis (n = 1), and upper gastrointestinal hemorrhage (n = 4). Twelve complications were easily managed with medical, endoscopic, or radiologic intervention. Four deaths may have been related to stent placement (early mortality rate, 7.7%). CONCLUSION: GRZ stents provide relatively safe and effective long-term palliation in patients with severe, malignant esophageal obstruction.     

Outcome of inflammatory smears managed in a genitourinary medicine clinic

PURPOSE: To determine the spectrum of clinical presentations of patients with chronic progressive external ophthalmoplegia (CPEO). METHODS: Retrospective study of 13 cases with CPEO. RESULTS: Eight patients presented an isolated CPEO, three patients had an associated retinopathy (Kearns-Sayre syndrome), one case suffered from retinopathy, deafness, diabetes mellitus and dysphagia, and one patient had an associated dysphagia. Mitochondrial DNA deletions were found in two cases. CONCLUSIONS: Our cases illustrate the wide spectrum of mitochondrial ocular myopathies. As patients present mostly with ptosis and ophthalmoplegia, ophthalmologists should be aware of these rare conditions.     

Characteristics of acute pneumonia in human immunodeficiency virus-infected children and association with long term mortality risk. National Institute of Child Health and Human Development Intravenous Immunoglobulin Clinical Trial Study Group

OBJECTIVE: To describe the epidemiologic, clinical, radiologic, laboratory and treatment characteristics of acute pneumonia and its association with mortality in HIV-infected children. METHODS: Data were collected during a trial of intravenous immunoglobulin (IVIG) for infection prophylaxis (1988 to 1991); CD4+ percentage was measured and HIV RNA was assessed on stored sera collected at baseline and every 3 months. Mortality was recorded during the trial and updated through 1996. All reported physician-diagnosed pneumonia episodes underwent blinded review for trial endpoint classification as acute (new radiologic findings and presence of clinical symptoms) or nonacute. RESULTS: On blinded clinical trial endpoint review of all reported pneumonia episodes (n = 281), only 47% were classified as acute. One hundred thirty-one episodes of acute pneumonia were reported in 93 children (47 in 31 IVIG and 84 in 62 placebo patients, P < 0.01). The incidence of acute pneumonia was 24 episodes per 100 patient years. Findings associated with an acute bacterial process were uncommon (leukocytosis > or =15000/mm3 in 21% and fever > or =103 degrees F in 32% of episodes). Multiple acute episodes occurred in 34% of the children and were associated with increased risk of mortality in a univariate analysis (risk ratio, 2.1; 95% confidence interval, 1.3 to 3.4, P = 0.002), but in a multivariate model only baseline HIV RNA copy number and CD4+ percentage remained independently associated with mortality (relative risk, 2.0 and 1.4, respectively, P < 0.001). CONCLUSION: Acute pneumonia was a common occurrence in HIV-infected children and was associated with long term mortality risk. Multiple episodes of acute pneumonia likely represent a marker of progressive disease and immunologic dysfunction rather than being causally associated with increased long term mortality.     

Simultaneous protection of G156A methylguanine DNA methyltransferase gene-transduced hematopoietic progenitors and sensitization of tumor cells using O6-benzylguanine and temozolomide

OBJECTIVE: To describe the clinical and radiologic features of superficial siderosis of the CNS after treatment of a cerebellar tumor. METHODS: Clinical assessment and MRI in four patients with superficial siderosis were performed. RESULTS: Four patients with superficial siderosis had been treated for a primary cerebellar tumor (astrocytoma in three patients, medulloblastoma in one patient) during childhood. All patients were treated with surgery and three received radiotherapy. Slowly progressive bilateral sensorineural hearing loss, gait ataxia, and limb ataxia appeared 8 to 22 years after diagnosis of the cerebellar tumor. Other clinical features were mild cognitive impairment, dysarthria, nystagmus, optic neuropathy, anosmia, and upper motor neuron signs. The CSF contained erythrocytes and increased protein. MRI with fast spin-echo T2-weighted and gradient-echo T2* sequences showed a hypointense rim of iron coating the surface of the cerebellum and brainstem. Twenty-one other patients who had survived more than 5 years after treatment of a primary cerebellar tumor did not have symptoms or signs suggestive of superficial siderosis. CONCLUSIONS: Superficial siderosis is an uncommon late complication of the treatment of a childhood cerebellar tumor, but it is probably underrecognized. The diagnosis should be suspected in patients who present with slowly progressive sensorineural hearing loss and ataxia many years after eradication of a childhood cerebellar tumor.     

Pelvic insufficiency fracture with diastasis of the pubic symphysis after irradiation: a case report

BACKGROUND: The use of self-expanding metal stents for palliation of malignant dysphagia is increasing. Experience in 70 patients was reviewed with respect to the value of stenting and management of the complications encountered. METHODS: Oesophageal stents were inserted in 70 patients (42 men) of mean age 73 years with malignant oesophageal obstruction. Data regarding stent insertion and degree of dysphagia were gathered prospectively. RESULTS: Seventy-six stents were placed in 70 patients. By the end of the study 57 patients had died and 13 were still alive. Three patients died within 3 days of stent insertion and dysphagia was relieved in 64 of the 67 patients remaining. Stent migration, tumour ingrowth and overgrowth, and food impaction were encountered during follow-up in eight patients. CONCLUSION: Insertion of self-expanding metal stents for the palliation of malignant oesophageal obstruction is a successful therapy which can be carried out with relative ease. Palliation of dysphagia with an appropriate stent can be expected in up to 95 per cent of patients.     

Annular pancreas in an adult

Annular pancreas is a rare congenital anomaly which can remain symptom free for a long time and be manifested mainly in adults. 1130 endoscopic retrograde pancreatographies were performed in the author's laboratory during 3.5 years, and annular pancreas was seen in 2 cases. Duodenal obstruction with consecutive ulcers was the clinical manifestation in a young woman requiring duodeno-jejunostomy. Annular pancreas was an accidental finding in an other old woman presenting obstructive jaundice caused by several big stones in the main bile duct. A short review of the literature is given concerning the diagnostic possibilities, eventual complications and treatment modalities of this rare anomaly. It is emphasised that the diagnosis became possible due to the modern radiologic and endoscopic methods.     

Rosai-Dorfman disease mimicking multiple meningioma: case report

Rosai-Dorfman disease is a rare idiopathic histioproliferative disease affecting the lymph nodes. Extranodal involvement has also been recognized, but central nervous system manifestations are extremely rare. Only 12 patients with intracranial involvement have been reported previously, and they all presented with clinical and radiological findings suggestive of meningioma. We report multiple meningeal nodules in a patient presenting with seizures whose pathological findings at surgery confirmed the diagnosis of Rosai-Dorfman disease. A review of all previously reported intracranial lesions is presented.     

Tectal tumors of childhood: clinical and imaging follow-up

PURPOSE: This study was done to determine which clinical and imaging findings best correlate with outcome in children with tectal tumors. METHODS: A retrospective review was done of the medical records and imaging studies of 32 children (16 boys and 16 girls; mean age, 8 years) with tectal tumors. Eight children had CT, 11 had MR imaging, and 13 had both CT and MR studies. Findings from surgical and pathologic reports as well as from follow-up examinations (mean follow-up period, 5 years; range, 3.6 months to 17 years) were included in the review. RESULTS: All patients had hydrocephalus and all but one required CSF diversion. The tectum was the center of the tumor in all cases and the majority of the tumors appeared isodense on CT scans, isointense on T1-weighted MR images, and hyperintense on T2-weighted images. Twenty patients required no further treatment. In this group, the mean maximum tumor diameter was 1.8 cm and enhancement occurred in two cases. At follow-up, 18 patients had stable tumor size, one had an increase in tumor size with cyst formation but no worsening of symptoms, and one had a decrease in tumor size. Twelve patients required further treatment (excision and/or radiotherapy) because of progression as indicated by either increased tumor size or worsening of symptoms. In this group, the mean maximum tumor diameter was 2.5 cm and contrast enhancement occurred in nine cases. Further follow-up in this group showed decreased tumor size in eight and stable residual tumor in three. CONCLUSION: Tectal tumors in childhood have variable behavior. MR imaging assists in the clinical determination of which children need treatment beyond CSF diversion. Larger tumor size and enhancement are radiologic predictors of the need for further treatment.     

Spontaneous intracranial hypotension syndrome]

Spontaneous intracranial hypotension is a rare but well known entity first described by the German neurosurgeon Schaltenbrand. We report the clinical and radiological findings of four patients (2 males, 2 females, mean age 55 years) presenting with this clinical entity and peculiar constant MRI findings. Intense postural headache was present in all patients together with a very low CSF pressure at lumbar tap although none of the patients had any history of recent lumbar puncture, spinal or cerebral surgery or cranio-cervical trauma. MRI revealed in all patients an intense meningeal enhancement and thickening which was most prominent on the dural side of the subdural space. The ventricular system was thin, presenting almost like slit ventricules. A downward shift of the cerebellar tonsils and hemorrhagic subdural collections were also observed in two patients. Biopsy of meninges performed in two patients showed fibrosis of the leptomeninges together with signs of old hemorrhage in one case. We postulate that histologic and radiologic changes are due to chronic subdural bleeding in relation with abnormal displacement of the nervous structures due to intracranial hypotension. The underlying cause of spontaneous intracranial hypotension is rarely established and the course of the disease is benign. Some authors have advocated to perform isotopic cysternography in search for a CSF leak, particularly in the spine, that could be surgically corrected. No such investigation has been conducted yet in our patients because the spontaneous evolution has been mostly favorable.     

Comparison of effects of tamoxifen and toremifene on bone biochemistry and bone mineral density in postmenopausal breast cancer patients

Congenital or infantile fibrosarcoma is a rare soft-tissue neoplasm that should be considered in the differential diagnosis of a large extremity mass presenting at birth. These tumors are notoriously misdiagnosed at birth as either hemangiomas or lymphatic malformations. Definitive diagnosis is made by physical examination, special radiologic studies, and biopsy. Although histologically similar to fibrosarcomas occurring in adults, the congenital lesions differ in their clinical behavior; metastases are rare, local recurrence is common, and the prognosis is good with wide local excision combined with chemotherapy. Amputation should be reserved for chemoresistant patients in whom the involvement of neurovascular structures by the tumor make a limb-sparing aggressive excision impossible.     

High-mobility-group proteins and cancer--an emerging link

Aspartylglucosaminuria (AGU) is a lysosomal storage disorder with progressive mental retardation as a presenting manifestation. The disorder is caused by a single nucleotide change in the gene encoding aspartylglucosaminidase (AGA). This rare disease is relatively common in Finland: we were able to examine 81 Finnish AGU-patients for dental and oral changes. Tooth crown size and crown shape were normal, but dental malocclusions were common, and prevalences of spacing, large overjet, anterior open bite, and lateral crossbite exceeded Finnish population prevalences (P < 0.0001). Dental arches were already large in childhood, and in adult patients, when compared to Finnish population standards, the lower dental arch was larger in all dimensions (P < 0.001). Almost all patients had abnormally large tongues, which we assumed to be the reason for the structural abnormalities observed.     

Spondylitis in typhoid fever (author''s transl)

Obstructing esophageal food impaction was successfully relieved in 3 patients by the administration of intravenous glucagon. Since proteolytic enzyme digestion of bolus impaction carries a clear risk of fatal esophageal perforation, early therapeutic administration of glucagon during initial esophagography affords a safe and effective acute-care radiologic adjunct. Advantages include immediate diagnosis and therapy, effectiveness in meat and vegetable impactions, and safety for repeated doses. A glucagon-papain combination is suggested as a routine regimen during standard efforts at enzymatic disimpaction.     

Cholelithiasis in children and adolescents (authors transl)

Cholelithiasis is a rare, but important condition to be considered in the differential diagnosis of abdominal symptoms in childhood and adolescence. A survey over a 20-year period revealed 10 cases between the ages of 11 and 20 years, with a clinical history of cholelithiasis of between 5 days and 6 years. The most consistent finding was epigastric or right upper quadrant pain. Serum chemistry did not contribute conclusively towards the diagnosis. Hereditary spherocytosis was demonstrated in 3 cases, 2 had familial gall bladder disease, whilst in the rest no cause could be found. Two patients are described in some detail: one girl with spherocytosis and a bilirubin of 78 mg/100 ml, presenting with choledochal obstruction and pancreatitis, and another girl with a history of recurrent abdominal pain, negative radiologial and chemical pathological findings and a tentative diagnosis of neurosis. Oral cholecystograms lead to the diagnosis in most cases; however i. v. cholangiograms should be considered whenever the diagnosis appears in doubt. All cases were treated by cholecystectomy and recovery was uneventful in 9 patients. Cholecystectomy should be performed in all patients with gall stones, even in the absence of symptoms.     

A clinical and radiologic study of autotransplanted impacted canines

The aim of the present study was to evaluate the clinical and radiologic results of 20 autotransplantations of impacted canines performed in the Orthodontic and Pedodontic Department of the University of Geneva between 1979 and 1988. The sample, divided into two different age groups (group A: 13-20 years; group B: 20-48 years), demonstrated persistence of pulp vitality in 80% of the cases in group A, whereas routine endodontic treatment was instituted in all cases of group B. Periodontal healing was noted in 90% of the cases in group A, and in 70% of the cases in group B. The present clinical and radiologic data indicate that impacted canines can be transplanted at any age with good prognosis and are an alternative to orthodontic repositioning in selected cases of canine impaction.     

Autoimmune pancreatitis: radiologic findings in three histologically proven cases

We describe the radiologic findings of autoimmune pancreatitis, a rare variant of pancreatitis. The radiologic findings of autoimmune pancreatitis are pathognomonic and very different from those of ordinary types of acute or chronic pancreatitis. This condition is a new clinical entity that is effectively treated with steroid therapy. It is important to recognize the radiologic characteristics of autoimmune pancreatitis to avoid surgical resection and start steroid therapy.     

Glutaraldehyde colitis: radiologic findings

PURPOSE: Two percent glutaraldehyde on colonic mucosa may result in a toxic colitis, and the clinical features may mimic those of colonic ischemia. The study was performed to determine the radiologic appearance of glutaraldehyde-induced toxic colitis. MATERIALS AND METHODS: A retrospective review was performed with the clinical and imaging findings in four patients with glutaraldehyde-induced colitis seen during a 6-year period. RESULTS: Patients developed a self-limited syndrome of cramps and abdominal pain, tenesmus, and rectal bleeding within 48 hours of uncomplicated sigmoidoscopy or colonoscopy. Sample cultures excluded enteric pathogens. Computed tomography (CT) demonstrated circumferential thickening of the colonic wall in a left-sided distribution in all patients. Heterogeneous mural enhancement (target-sign appearance) was noted in two patients. Follow-up CT studies confirmed resolution of mural wall thickening with conservative management. CONCLUSION: The clinical and radiologic features of glutaraldehyde-induced toxic colitis may mimic those of colonic ischemia. This complication should be suspected in patients who develop hemorrhagic colitis immediately after undergoing colonoscopy.     

A 60-year-old woman with weakness, fatigue, and acute respiratory failure: case report and discussion of the differential diagnosis

A 60-year-old woman with chronic progressive fatigue, diurnal somnolence, proximal muscle weakness, and dyspnea developed acute respiratory failure when given supplemental oxygen. Hypoventilation secondary to neuromuscular dysfunction was suspected by the critical care specialist. Neurologic consultation and supportive laboratory evaluations led to the diagnosis of acid maltase deficiency, which was confirmed by muscle biopsy. The discussion includes a literature review that describes the pathophysiology and treatment of this rare muscle enzyme deficiency disorder. Acid maltase deficiency should be suspected in any adult presenting with hypoxemia, fatigue, and acute respiratory failure.     

Assessment and management of ulcerative colitis in children

The incidence of ulcerative colitis in school-age children in most parts of Europe has been steady at 1.5-2.0 per 100,000 children per year for the last 20-30 years. In comparison to adults, abdominal pain is a relatively frequent presenting symptom in children in addition to rectal bleeding, bloody diarrhoea or diarrhoea. Distribution of disease in children is generally more extensive (ratio rectal:left sided:extensive 25:30:45). There are remarkably few clinical trials of therapy in children and reasons for this are discussed. Subjective indices of disease severity and activity are unreliable in children. Objective measures such as endoscopy are of value to define the extent of ulceration and histopathological features; a test of gut protein loss using whole gut lavage gives an objective index of disease activity. Principles of medical management in children are generally the same as in adults with the additional need for scrupulous attention to nutrition and growth, and psychological factors. Reassuring results of a review of the health status of young adults who had developed ulcerative colitis in childhood are presented. Twenty-four of 27 considered themselves fully fit although nine of the patients had a permanent ileostomy.     

Congenital scoliosis with posterior spinal arthrodesis T2-L3 at age 3 years with 41-year follow-up. A case report

STUDY DESIGN: A case report. OBJECTIVES: To document the long-term effects of early fusion for progressive congenital scoliosis. SUMMARY OF BACKGROUND DATA: There is concern about fusion at an early age causing torso shortening and possible crankshaft phenomenon. METHODS: A review of medical and radiologic records. RESULTS: A 3-year old girl with progressive congenital scoliosis had posterior spinal arthrodesis in 1955. A pseudarthrosis was repaired at age 4, and at age 8 she had an osteotomy of the fusion mass because of bending of the fusion mass. In a follow-up 41 years after fusion, she has no back pain and no history of pulmonary problems. Despite the long fusion at a young age, her torso-to-leg ratio was remarkably good. The thoracic lordosis had improved to a normal thoracic kyphosis. CONCLUSION: Early arthrodesis was life saving and caused no long-term problems. Because significant spinal growth has occurred by age 3, no adverse effects on torso-leg ratio with an early long arthrodesis, and in addition the crankshaft phenomenon is rare in congenital scoliosis.