A sporadic abdominal desmoid tumour case presenting with intermittent intestinal obstruction.

Desmoid tumours, also known as aggressive fibromatoses, are rare lesions having intermediate biological behaviour between benign fibrous lesions and fibrosarcomas. Although abdominal desmoids have an increased incidence in Gardner's syndrome, they are rarely found in isolated form. We report a barium study, ultrasound, computed tomography and magnetic resonance imaging findings of a case in a nine-year-old boy with intermittent nausea and vomiting. Although intraabdominal desmoids are usually detected as a solitary lesion in sporadic cases, the case presented here had two mesenteric lesions in the left upper quadrant. Intestinal obstruction and invasion of colon wall had occurred.     

Asymptomatic inflammatory bowel disease presenting with mucocutaneous findings

Although inflammatory bowel disease (IBD) typically presents with gastrointestinal complaints, mucocutaneous lesions are commonly associated and can precede gastrointestinal symptoms, thereby alerting the clinician to the diagnosis of IBD before the onset of gastrointestinal symptoms. Nine children are reported who had no gastrointestinal symptoms suggestive of IBD but presented with mucocutaneous findings of IBD and were subsequently diagnosed with Crohn's disease or ulcerative colitis based on characteristic features on gastrointestinal endoscopy and/or biopsies. The majority of the patients had oral and perianal lesions. We believe that IBD is a common etiology for persistent oral lesions in the pediatric population. In addition to a good history, children with unexplained oral mucous membrane lesions should have an examination of the rectal and genital mucosa as well as tests for complete blood count, iron levels, sedimentation rate, albumin, and occult blood in the stool with endoscopy and biopsies to rule out IBD if indicated.     

Langerhans cell histiocytosis patients have HLA Cw7 and DR4 types associated with specific clinical presentations and no increased frequency in polymorphisms of the tumor necrosis factor alpha promoter

BACKGROUND: Current theory on the etiology of Langerhans cell histiocytosis (LCH), formerly Histiocytosis-X, is that abnormality(ies) of the immune system are responsible for dysregulation of Langerhans cells (LC) in patients' lesions. Among the known abnormalities in LCH patients are increased amounts of tumor necrosis factor alpha (TNF-alpha) and other cytokines in the lesions. PROCEDURE: We investigated the human leukocyte antigen (HLA) phenotypes of 29 patients and 37 healthy family members to determine if any haplotypes segregate with the presence or locations of the disease. The lymphocyte subsets for 22 patients and 11 family members were also determined. RESULTS: Patients with single bone, multiple bone, or multi-system LCH had different relative proportions of HLA types. Patients presenting with single bone disease had an especially high frequency of the DR4 type. In this patient group, every Caucasian patient had either Cw7 or DR4. Lymphopenia was documented in patients who had been off therapy as well as those who only had surgical curetage of their lesions. Family members also had low numbers of T lymphocytes. There were fewer mutations of the TNF-alpha promoter in patients than in the general population. CONCLUSIONS: Although there is an increased percentage of LCH patients with DR4 and/or Cw7 there was also an increased prevalence of this antigen as well as lymphopenia among unaffected family members. Additional genetic and/or environmental factors are necessary to explain this association. TNF-alpha promoter mutations are not responsible for the increased production of this cytokine.     

Polyostotic monosystemic calvarial and spinal langerhans' cell histiocytosis treated by surgery and chemotherapy

There are several treatment modalities for Langerhans' cell histiocytosis (LCH) of bone, formerly usually referred to as eosinophilic granuloma, including surgery, radiotherapy and chemotherapy. In spinal lesions, surgery is not recommended generally, because of the potential for reconstitution of vertebral height. We report a case of multifocal monosystemic LCH treated by surgery and chemotherapy for calvarial and spinal lesions. A 7-year-old boy was initially operated for an occipital monostotic LCH of bone. Then, he was treated by surgery for cervical and thoracic lesions, and by chemotherapy with vinblastine. The patient had no complaints at the 24-month follow-up. Although surgery is not recommended for spinal lesions in children with LCH of bone, short segmental fusion and internal fixation may be a suitable choice for selected cases, especially in children who are not likely to comply with activity restrictions and in those who it is difficult to follow up. The treatment must be planned according to the characteristics of the patient.     

Perineal lipomas associated with anorectal malformations

Newborns with anorectal malformations may have associated perineal lipomas. These lesions are rare but may make the repair of the anorectal malformation more complex. Knowledge about the functional consequences of these lesions is scanty. The purpose of this study was to review the experience of anorectal malformations with perineal lipomas in two Scandinavian paediatric surgical centres. Six patients with perineal lipomas and anorectal malformation treated in the two centres from 1991 to 2005 were retrospectively reviewed. Bowel function was evaluated in patients more than 4 years old. Three girls and three boys (age 4 months to 14 years) with anorectal malformations and perineal lipoma were included in the study. The boys all had high anorectal malformations with rectourethral or rectovesical fistulas. Two girls had a rectovestibular fistula and one girl had a cloaca. All patients had perineal lipomas, in one associated with an anterior meningocele. The lipomas were excised at time of anorectal reconstruction. One of the patients still has a colostomy, and two colostomies were recently closed. The bowel function was evaluated in three patients. Two patients have an ACE stoma to control constipation and soiling and one is soiling despite regular washouts. In conclusion, perineal lipomas associated with anorectal malformations are rare but may distort sphincter anatomy. Excision is best performed at time of anorectal reconstruction. Although our experience is limited, bowel function seems to be compromised by these lesions.     

Hemangiomas and vascular malformations

Vascular lesions in the neonate and infant are categorized as hemangiomas or malformations. Although their appearances may be similar, the pathobiology, natural history, and prognosis of these lesions are different. Selected important syndromes that are characterized as hemangiomas and vascular malformations are discussed, and an update on what is new in treatment, including laser therapy, is presented.     

Focal giant cell cardiomyopathy with Beckwith-Wiedemann syndrome

Cardiac involvement in Beckwith-Wiedemann syndrome is mostly limited to mild cardiomegaly. Although these patients have visceromegaly, macroglossia, gigantism, and adrenal cytomegaly, no significant myocardial changes have been described. An infant with dysmorphic features of this syndrome had supraventricular tachycardia since birth. Nodular lesions were present in the right atrium. Morphologically these lesions were composed of hypertrophic myocardial fibers admixed with multinucleated giant cells of myogenic origin. The exact nature of these lesions remains undetermined. It is postulated that hypertrophic myocardial cells may represent cardiac cytomegaly as a manifestation of the accelerated growth potential of cells seen with this syndrome.     

Focal Giant Cell Cardiomyopathy with Beckwith-Wiedemann Syndrome

Cardiac involvement in Beckwith-Wiedemann syndrome is mostly limited to mild cardiomegaly. Although these patients have visceromegaly, macroglossia, gigantism, and adrenal cytomegaly, no significant myocardial changes have been described. An infant with dysmorphic features of this syndrome had supraventricular tachycardia since birth. Nodular lesions were present in the right atrium. Morphologically these lesions were composed of hypertrophic myocardial fibers admixed with multinucleated giant cells of myogenic origin. The exact nature of these lesions remains undetermined. It is postulated that hypertrophic myocardial cells may represent cardiac cytomegaly as a manifestation of the accelerated growth potential of cells seen with this syndrome.     

Steroid Therapy for Bronchopneumonia in Chronic Granulomatous Disease

In general, immunosuppressive agents such as corticosteroids are considered to be a contraindication for immunocompromised hosts with an active infection. Recently, however, a few cases have been reported where the obstructive lesions caused by the excessive inflammation in chronic granulomatous disease were successfully resolved with corticosteroids, resulting in a remission of the infection. As we have also experienced a case in which oral corticosteroid used in combination with antibiotics had a beneficial effect on an intractable respiratory tract infection which occurred in a patient with chronic granulomatous disease, we present the case report. Although it may be very difficult to determine the candidates, we consider that in selected cases a corticosteroid therapy with concomitant use of antibiotics will be a choice for the treatment of intractable infections in chronic granulomatous disease.     

Place des thérapeutiques médicales dans la prise en charge des tumeurs desmoïdes de l'enfant

Aggressive fibromatoses (desmoids tumors) are a rare nonmetastasizing fibrous tumor characterized by a local invasive capacity, a high recurrence rate after excision. Surgery remains the standard treatment. Wide excision with negative margins seems to decrease the chance of recurrence but must be not mutilating. Adjuvant high dose radiotherapy may have a good result but must be employed in selected patients. Drug therapy, essentially with continuous low dose adjuvant chemotherapy using methotrexate and vinblastine may be a reasonable choice, with low toxicity. Non-cytotoxic drug therapy represented by antiestrogens and non-steroidal anti-inflammatory drugs may have a beneficial effect. Antiproliferative effects of interferon and other drugs such as retinoïc acid have shown an encouraging response rates. The exactly role of this therapies remains controversial. Cellular, molecular and genetic investigations may be helpful to understand the mechanism of desmoid tumor proliferation. The aim of this study is to discuss the place of different medical therapies in the treatment of desmoid tumors, with review of literature.     

Radiologic appearance of primary jaw lesions in children

BACKGROUND: The jaw (an unusual site of primary tumors in children and adolescents) has lesions often found incidentally by dentists on routine panoramic radiographs or during examination of a child who has swelling or tooth pain. OBJECTIVE: This pictorial seeks to familiarize pediatric radiologists with the radiographic appearance of a variety of primary jaw lesions. MATERIALS AND METHODS: We retrospectively searched institutional records for cases of primary jaw lesions in children and adolescents. Jaw lesions were characterized as: I, well-circumscribed radiolucent lesions; II, lesions with mixed or variable appearance; III, poorly circumscribed radiolucent lesions; and IV, radiopaque lesions. RESULTS: Although most oral and maxillofacial lesions in children are benign, a broad spectrum of tumors was identified; lesions may occur in patients with unrelated prior malignancy. CONCLUSION: Because radiologic studies may identify jaw lesions and direct further care, familiarity with the appearance of these entities is prudent.     

Plexus paresis and smallpox vaccination (author's transl)

Paresis of the left side upper plexus brachialis is diagnosed to a boy of 2;8 years. The trouble appeared after a smallpox vaccination, which had been carried out successfully. There are no symptoms of CNS-disturbance. serumneuritis and virogenic radiculatis are discussed as pathogenic variants. Although postvaccinal peripheral nervous lesions very seldom occur, it does seem possible that the ailment in question could be a consequence of the smallpox vaccination.     

Lesion volume, lesion location, and outcome after middle cerebral artery territory stroke.

AIM: To investigate the relation between lesion volume, lesion location, and clinical outcome in children with infarction in the territory of the middle cerebral artery (MCA). PATIENTS AND METHODS: Children with MCA territory infarcts were selected retrospectively from a database of children with ischaemic stroke. Lesion volumes were expressed as a percentage of the supratentorial intracranial volume and were categorised as "small", "moderate", or "large". Lesion location was categorised as cortical or purely subcortical. Outcome was ascertained by parental questionnaire and was categorised as "good" or "poor". RESULTS: 38 patients were identified (median age 6 years); 21 patients had lesions that involved cortical tissue. Outcome was good in 12 cases and poor in 26 cases (including 2 children who died). Although there was no significant effect of lesion size or lesion location on outcome for the group as a whole, all children who had infarcted more than 10% of intracranial volume had a poor outcome. Of note, some children with small subcortical lesions had pronounced residual deficits. CONCLUSIONS: Although the outcome after a small infarct in the MCA territory is variable and unpredictable, infarction of more than 10% of intracranial volume is universally associated with a poor outcome. Characterisation of lesion volume and topography might be helpful in identification of such children for participation in future trials of treatments for acute stroke.     

Orthotopic liver transplant for multifocal lymphangioendotheliomatosis with thrombocytopenia

An eight‐yr‐old female with a history of multifocal lymphangioendotheliomatosis and thrombocytopenia presented for MVT. The patient had multiple vascular lesions in the skin and stomach in infancy. Although her cutaneous lesions resolved with vincristine and methylprednisolone, her gastric lesions persisted. Eight yr later, she was diagnosed with portal hypertension and decompensating liver function despite therapy with bevacizumab, propranolol, furosemide, and spironolactone. Upon presentation, she was found to have a Kasabach–Merritt‐like coagulopathy in association with multiple lesions in her GI tract and persistent gastric lesions. Although treatment with methylprednisolone and sirolimus normalized her coagulation factors and d ‐dimer levels, she never developed sustained improvement in her thrombocytopenia. Her liver function continued to deteriorate and she developed hepatorenal syndrome. Given better outcomes after OLT in comparison with MVT, she underwent OLT, with the plan to manage her GI lesions with APC post‐transplant. Post‐transplant, her liver function and coagulopathy normalized, and GI tract lesions disappeared upon screening with capsule endoscopy. The patient is doing well, without recurrence of either GI lesions or thrombocytopenia, at 18 months after transplantation.     

Osteochondritis dissecans of the knee in children

Osteochondritis dissecans is a term used to describe the separation of an articular cartilage subchondral bone segment from the remaining articular surface. Juvenile osteochondritis dissecans describes an osteochondritis dissecans lesion found in skeletally immature children with a maximum incidence occurring between the ages of 10 and 20. It is found more frequently in children who are active athletically and involved in organized sports and is twice as common in males as in females. Although the etiology of these lesions is unclear, it is believed that repetitive microtrauma may interrupt the already tenuous epiphyseal blood supply in the growing child and contribute to the development of osteochondritis dissecans lesions. Treatment is dependent upon age at presentation, fragment size, fragment location, and fragment stability. Stable lesions in skeletally immature patients are generally amenable to conservative management. Failed conservative management or unstable lesions will more likely require surgical intervention. Lesions in skeletally mature patients have a more unpredictable course and may require surgery. This review article discusses the anatomy, etiology, evaluation, classification, treatment, and expected outcome of osteochondritis dissecans lesions.     

Incidental resolution of a radiation-induced cavernous hemangioma of the brain following the use of bevacizumab in a child with recurrent medulloblastoma

Radiation-induced cavernous hemangiomas (RICH) are a known complication of radiation exposure, especially in young children. The current treatment approaches to these lesions include observation and surgical resection. We report the case of a 4-year-old male with recurrent medulloblastoma who had resolution of an incidental RICH lesion while being treated with bevacizumab for his recurrent brain tumor. There was no evidence of worsening hemorrhage with this therapy and the RICH did not recur upon discontinuation of the chemotherapy regimen. This is the first documented case of a RICH lesion responding to antiangiogenic therapy, suggesting the possible use of this class of agents in the treatment of symptomatic patients who are not considered appropriate candidates for surgical resection. Although the risk of bleeding must be taken into consideration, antiangiogenic therapies have the potential to be a novel treatment modality for symptomatic RICH lesions.     

Risk of pulmonary tuberculosis in children with congenital heart disease

Children with low-flow congenital heart lesions are reported to have an increased incidence of pulmonary tuberculosis. The aim of this study was to investigate if children with congenital heart disease have an increased incidence of pulmonary tuberculosis and to determine if patients with certain heart conditions are more susceptible to pulmonary tuberculosis than others. This retrospective study over a 6-year period showed that pulmonary tuberculosis was 2.5-fold more common in children with congenital heart disease than in normal children from the same community. Children with congenital pulmonary stenosis had a prevalence equal to those with acyanotic (ventricular and atrial septal defects) and cyanotic (transposition of the great arteries) high-flow heart lesions, whereas there were no cases of tuberculosis in children with low-flow cyanotic heart lesions such as tetralogy of Fallot. Cardiac surgery had to be postponed as a result of pulmonary tuberculosis in 7.2% of all patients in whom it was required. Over the 6-year period of the study, cardiac surgery had to be delayed in 60% of cases with pulmonary tuberculosis and congenital heart lesions so antituberculosis therapy could be completed. Physicians treating children with congenital heart lesions should maintain a high index of suspicion for the development of pulmonary tuberculosis, especially in those with acyanotic and cyanotic high-flow lesions and pulmonary stenosis.     

Chemotherapy of pulmonary blastoma: A case report and review of the literature

Pulmonary blastoma is a rare lung tumor of uncertain histogenesis. Although surgery may be curative therapy for localized lesions, recurrent tumor has been resistant to various treatment modalities. We report a case of metastatic pulmonary blastoma that had a partial remission with combination chemotherapy. Suggestions are made for the treatment of localized and metastatic pulmonary blastoma.     

Sickle cell disease: a clinical and histopathologic study of the liver in living children

PURPOSE: To study hepatic lesions in living children with sickle cell disease. Although such lesions are well known, the possibility of chronic persistent damage to the parenchyma resulting from the disease itself or iron overload is controversial. PATIENTS AND METHODS: Sixteen children with sickle cell disease aged 15 months to 18 years were prospectively investigated out of 741 patients younger than 20 years registered at Hemominas Foundation, Brazil. Inclusion criteria for biopsy were as follows: five had positive anti-hepatitis C virus (HCV) antibody, two had positive hepatitis B virus (HBV) surface antigen and persistently increased levels of aminotransferases, and nine underwent biopsy during abdominal surgery. RESULTS: Children with B or C hepatitis were significantly older than the others and also had increased levels of both alanine and aspartate aminotransferases. Lobular architecture was preserved in all nonviral cases; mild to moderate sinusoidal dilatation was present in eight, hepatocellular regenerative activity in six, and focal necrosis and corresponding mild inflammatory infiltrate in three. No fibrosis or bile duct damage was observed. Mild to severe hemosiderosis was present in all children except one. The degree of iron overload was clearly associated with the number of previous blood transfusions. All five children with HCV had chronic hepatitis. One of the children with HBV had incomplete and the other had definite cirrhosis. CONCLUSIONS: These data indicate that chronic hepatic lesions in children with sickle cell disease may be caused by viral damage. Patients without evidence for viral etiology had reversible vascular lesions. Follow-up studies would be necessary to confirm this hypothesis but are precluded for ethical reasons. Hemosiderosis was not associated with fibrosis in any nonviral cases, but a larger number of patients would be necessary to establish valid conclusions.