Kimura's disease: an unusual cause of cervical tumour.

An 11 year old Chinese boy developed a unilateral cervical mass associated with pronounced eosinophilia and a marked increase in IgE concentrations. A biopsy sample showed massive eosinophilic tissue infiltration consistent with Kimura's disease. This disorder should be suspected when the clinical triad of painless unilateral cervical adenopathy, hypereosinophilia, and hyper-IgE is present, particularly in male Asian patients.

Aortic outflow obstruction in visceral heterotaxy: a study based on twenty postmortem cases.

Aortic outflow tract obstruction can complicate the clinical course and surgical management of patients with heterotaxy syndromes, but its anatomic basis has not been described in detail. In 20 postmortem cases with asplenia (n = 4) or polysplenia (n = 16), the anatomic causes of aortic outflow tract obstruction were absence of the subaortic conus in association with (1) narrowing of the subaortic outflow tract between the conal septum anteriorly and the common atrioventricular (AV) valve posteriorly in six (30%) patients; (2) aortic valvar atresia in four (25%), three with asplenia and one with polysplenia; (3) redundant AV valve leaflets in four (20%); (4) excessive AV valve fibrous tissue in four (20%); (5) marked hypoplasia of the mitral valve and left ventricle in two (10%); and (6) aneurysm of membranous septum in one (5%). One patient belonged to group (1) and (4). Aortic outflow tract obstruction was much more common with polysplenia (28%) than with asplenia (4%) (p < 0.001).

GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots.

GM1-gangliosidosis (GM1) is one of the metabolic storage diseases, of which a differential diagnosis requires an array of biochemical assays to determine the enzyme deficiency. This approach is not only time-consuming and costly but also unavailable to most hospital laboratories. However, a presumptive diagnosis of GM1 may be made on the basis of coarse facial feature, foamy endothelial cells in the cutaneous blood vessels and ectopic Mongolian spots, if present. A more definitive diagnosis of GM1 is then made on the demonstration of deficiency of GM1 beta-galactosidase in leukocytes, plasma or cultured skin fibroblasts. Thus, a battery of enzyme tests may be averted.

Crohn's disease presenting as unilateral labial hypertrophy.

We describe a child who had unilateral hypertrophy of the vulva, a rare extraintestinal manifestation of Crohn's disease. A biopsy specimen revealed a noncaseating granuloma. Flexible sigmoidoscopic examination revealed punctate 1 mm lesions with surrounding erythema in the rectum and sigmoid colon. Response to treatment with sulfasalazine was excellent. Gastrointestinal symptoms developed 1 year later when sulfasalazine was discontinued.

Anesthesia-induced rhabdomyolysis in infants with unsuspected Duchenne dystrophy.

Anesthesia-induced rhabdomyolysis in infancy may represent an unsuspected Duchenne dystrophy. In order to establish the diagnosis of this genetic disease more definitively, a dystrophin test is a requisite following the conventional creatine kinase test and light and electron microscopies of the muscle biopsy.

Herpetic esophagitis in an immunocompetent boy.

An immunocompetent 12-year-old boy had epigastric pain, odynophagia, fever, and hematemesis. Esophagoscopy demonstrated ulceration of his proximal and distal esophagus. Although histopathologic analysis of biopsies obtained from the lesions was nondiagnostic, herpes simplex virus type 1 was isolated from these samples. The patient responded rapidly to acyclovir therapy. Only a handful of cases of herpes esophagitis have been reported previously in immunocompetent children. This infection must be considered in children having odynophagia and fever, even if they are not immune compromised.

Limb body-wall complex in association with sirenomelia sequence.

Limb body-wall complex and sirenomelia sequence are uncommon birth defects and their association is extremely rare. Their overlapping manifestations and their concurrence in our patient suggest that they share a common cause and belong to a group of pathologically closely related conditions. Embryonic vascular disruption may be a common pathogenesis in both anomalies.

Importance of histologic condition and treatment of pediatric cerebellar astrocytoma.

Histologic classification and treatment of pediatric cerebellar astrocytomas is an area of controversy. At the Medical College of Wisconsin, 34 patients less than 15 years of age (median, 7.3 years of age) with cerebellar astrocytomas were seen from 1965 to 1988. Effect of histologic condition and treatment on overall survival (OS) and progression-free survival (PFS) was analyzed. Progression was defined as radiographic evidence of an enlarging mass and/or signs and symptoms indicative of advancing disease. Histologic material was reviewed and classified by the system of Winston and Gilles. Twenty-eight patients had glioma A tumors, and six patients had glioma B tumors. For patients with glioma A (n = 28), 5-year actuarial OS rate was 100%. For patients with glioma B (n = 6), 5-year actuarial OS rate was 41%. PFS rate was 66% and 0% for patients with glioma A and glioma B, respectively. The poorer PFS for patients with B histologic tumors was statistically significant (P less than 0.001). The median time to progression was 36 months and 23 months for patients with glioma A and B, respectively. Patients were retrospectively divided into total resection and observation, total resection and irradiation, subtotal resection and observation, and subtotal resection and irradiation groups, which were composed of 12, 2, 3, and 17 patients, respectively. Five-year actuarial OS rates were 100%, 50%, 50%, and 100%, respectively. PFS rates were 60%, 50%, 33% and 58%, respectively. These data support the Gilles classification as a prognostic tool because patients with B tumors had a higher incidence of disease progression and accounted for all deaths. Postoperative irradiation after subtotal resection seems to be beneficial, but additional investigation, ideally with a prospective randomized trial, will be necessary to firmly establish this.

Inflammatory myofibrohistiocytic proliferation simulating sarcoma in children.

The term "inflammatory myofibrohistiocytic proliferation" (IMP) has been proposed to replace the conventional designations of plasma cell granuloma and inflammatory pseudotumor. Three cases of extrapulmonary IMP in children are reported, including an intracerebral lesion which has been formerly undescribed. In children, IMP may be associated with microcytic hypochromic anemia, hypergammaglobulinemia, and high erythrocyte sedimentation rate. In this clinical setting, differentiation of a rapidly growing but benign IMP from a bona fide sarcoma is of paramount importance.

Clostridial septicemia complicating the course of leukemia.

The authors report an analysis of 47 leukemia patients (including 9 from our own medical center) whose courses were complicated by 48 episodes of clostridial septicemia. There were 36 adults and 11 children; acute myelogenous leukemia and acute lymphoblastic leukemia accounted for 61.7% and 14.9% of cases, respectively. All patients for whom remission status was known were in leukemic relapse. Fever was a presenting complaint in at least 36 patients whereas neutropenia, thrombocytopenia, and gastrointestinal lesions were noted in 100%, 90.9%, and 87.9%, respectively, of the patients for whom information on these parameters was available. Overall mortality from clostridial septicemia was 78%; none of the children and none of the patients with intravascular hemolysis survived. Overall, antibiotic therapy resulted in a 40% survival rate. However, among patients receiving beta lactam and/or chloramphenicol therapy, 57% survived their episode of clostridial septicemia. Prompt initiation of appropriate antimicrobial therapy offers the best chance of survival in leukemia patients with clostridial septicemia.

Isolated bilateral T-cell renal lymphoblastic lymphoma.

A 3-year-old girl presented with bilateral renal masses. The histologic diagnosis was lymphoblastic lymphoma. Cell surface markers showed a cytotoxic/suppressor T cell phenotype. The patient was treated with APO therapy. She has remained continuously disease-free for 30 months and has been off all therapy for 6 months. This rare case supports the value of precise classification (by histologic and immunologic methods) as a guide to appropriate tumor therapy.

Effectiveness of a six-drug regimen (APO) without local irradiation for treatment of mediastinal lymphoblastic lymphoma in children.

Fourteen children with mediastinal lymphoblastic lymphoma (MLL) were treated with the six-drug APO protocol. This regimen includes aggressive intermittent chemotherapy and prophylactic central nervous system therapy. Mediastinal irradiation was given only for emergency relief of mediastinal compression (two children) or for incomplete resolution of mediastinal widening with chemotherapy (one child). All 14 patients achieved complete remission; only 1 has relapsed. Toxicities were not severe. APO is effective therapy for children with MLL. APO should receive further trials in children and adults with T-cell lymphoblastic lymphomas.

Long-term high-frequency jet ventilation in neonates.

High-frequency jet ventilation (HFJV) markedly improved the ventilatory status of 2 neonates with severe respiratory failure refractory to conventional mechanical ventilatory support. However, after approximately 1 wk of HFJV, both patients expired from causes not directly related to ventilatory compromise. Autopsy showed no gross alterations in tracheal or bronchial mucosa but did reveal microscopic lesions which could be attributable to HFJV.

Multilocular renal cyst: electron microscopic evidence of pathogenesis.

Two cases of multilocular renal cyst (MRC) are presented with electron microscopic findings. The epithelial cells of the cysts resembled renal collecting tubule cells and not convoluted tubule or Henle's loop cells. Intercystic areas contained only connective tissue elements. Simple MRC appears to be a congenital malformation that results from segmental maldevelopment of the ureteric bud. In some cases of MRC, the intercystic septa contain immature renal elements. The lesion is then called cystic poorly differentiated nephroblastoma (CPDN). However, in both MRC and CPDN, local recurrence or metastases have not been described. Treatment of these lesions should consist of nephrectomy, careful histologic evaluation to rule out obvious foci of Wilms' tumor, and conservative follow-up.

Hepatic ultrastructure in leukemic children treated with methotrexate and 6-mercaptopurine.

Methotrexate (MTX) and 6-mercaptopurine (6MP), the two drugs most commonly used for maintenance treatment of childhood leukemia, are both potent hepatotoxins. In order to assess MTX-6MP-induced damage, we obtained biopsies from 11 children with acute lymphocytic leukemia (ALL) for light microscopic and transmission electron microscopic study. Prednisone, vincristine, and L-asparaginase were used for induction of remission in all patients. Although light microscopic findings were minimal, we found significant ultrastructural abnormalities in all patients. Changes included nuclear abnormalities, disruption of rough and smooth endoplasmic reticulum, a variety of mitochondrial changes, steatosis, fibrosis, and changes in peroxisomes and lysosomes. These abnormalities could not have been predicted from liver function tests or histopathology. Three of the eleven patients studied had also received cyclophosphamide and cytosine arabinoside during maintenance therapy. The ultrastructural abnormalities in this group were not distinguishable from those observed in the group that did not receive these additional chemotherapeutic agents. The long-term clinical significance of these findings is not known.

Doxorubicin-vincristine therapy for Wilms' tumor: a pilot study.

Doxorubicin plus vincristine chemotherapy was given to 31 children following nephrectomy for Wilms' tumor. Radiation therapy was used as indicated. Disease-free survival by stage is: eight of nine patients (stage I), eight of nine (stage II), nine of ten (stage III), and two of three (stage IV). Median follow-up of survivors is 28 months (range, 2-67); for all but four patients, follow-up is greater than 12 months. Two of the three stage I-III failures occurred in children with unfavorable histologies; the third failure was due to fatal anthracycline cardiomyopathy. Lowering the maximal cumulative doxorubicin dose from 450 to 240 mg/m2 did not increase failures. Doxorubicin-vincristine appears to be effective chemotherapy for Wilms' tumor.