Esther Maor

Fatal Multiple Organ Failure Following Massive Hornet Stings

We describe a fatal outcome in a three-year-old child following massive stings by the oriental hornet (Vespa orientalis). The primary clinical features were coma, respiratory failure, coagulopathy, renal failure and liver dysfunction. On postmortem the main organs involved were brain, lungs, kidney and liver.

Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita : Histopathological delineation of an autosomal recessive disease

The simultaneous appearance of epidermolysis bullosa and pyloric atresia (EB-PA) is recognized as an autosomal recessive disease; however, the coappearance of EB-PA and aplasia cutis congenita (ACC) has not been delineated as a defined entity. The aim of this study was to analyze clinically and histopathologically eight cases with EB-PA-ACC belonging to an extended Bedouin family to gain insight into the cause and pathophysiology of the disease. All affected infants were found to have mixed skin lesions, including blisters and patchy lack of skin. Almost all of them (seven of eight) also had intestinal obstructions, especially pyloric atresia or stenosis. Skin lesions involved all skin layers with marked dystrophic changes. The intestinal obstruction was the result of overproliferation of connective tissue. In view of the clinical and histopathological findings, it is postulated that the condition is caused by an autosomal recessive gene affecting the integrity of the basement membrane and hemidesmosomes and the control of the normal process of fibrosis occurring during the course of wound healing. The sequence of events is initiated by the separation of the epidermis or the intestinal mucosal layer. Then, inflammatory reaction takes place and proceeds with massive fibrosis penetrating the deep layers and causing damage of skin and obstruction of the intestinal lumen. In view of the recent findings regarding the molecular basis of EB-PA, the described phenotype may result from a mutation in one of the integrin genes.

Thoracoabdominal peripheral primitive neuroectodermal tumors in childhood: radiological features

Abstract. Peripheral primitive neuroectodermal tumors (PNET) are extremely uncommon, malignant neoplasms affecting mostly children and young adults. We retrospectively reviewed the clinical data and radiological studies of four such cases. All cases were pathologically proven. Plain films, US, and CT scans were used. The youngest child had a huge pelvic tumor and two adolescents each had a chest wall (Askin) tumor. The fourth patient had a most unusual location of the PNET in the anterior mediastinum. The CT findings are emphasized. We emphasize that the markedly abnormal CT findings are not specific for PNET.

Pulmonary plasma-cell granuloma

A large pulmonary plasma-cell granuloma (PCG) mimicking a mediastinal germinal-cell tumor in a 9-year-old boy is presented. The non-specificity of the tumoral calcifications and of the radiographic and CT findings in pulmonary PCG is demonstrated.

Chorioangioma of the placenta in association with early severe polyhydramnios and elevated maternal serum HCG: a case report

We report a case of a chorioangioma of the placenta which was associated with elevated maternal serum HCG in the second trimester, severe early polyhydramnios and premature delivery. Chorioangioma should be considered in the differential diagnosis of an elevated HCG observed as part of the triple test.

Granular cell tumor (myoblastoma) of the labia major: A rare benign tumor in childhood

The clinical presentation, surgical findings, and histology of a granular cell tumor (myoblastoma) of the vulva in a 9-year-old girl are presented. Although rare, this benign lesion must be considered in the differential diagnosis of the labia major masses, such as Bartholins duct cyst, lipoma, papilloma, hydradenoma, and fibroma.

Carcinoma of the Pancreas Presenting with Bilateral Tonsillar Metastases

A 59-year-old woman presented with bilateral tonsillar masses due to metastases from a primary pancreatic carcinoma. Tonsillar metastases from many different primary tumors are well documented in the literature, but this seems to be the first case in which the pancreas was the primary site. It is also one of the very few recorded cases in which the patients presenting symptoms were due to tonsillar metastases.

Correlation of clinical characteristics and small bowel histopathology in celiac disease

BACKGROUND Literature information regarding clinical and histological correlates in celiac disease is limited. The present study was designed to assess the value of various clinical parameters in predicting the severity of small bowel histopathology. METHODS Small bowel biopsy specimens of 59 children with established celiac disease (ESPGAN criteria) were evaluated blindly. Morphology was evaluated based on a common histopathology score. The following clinical variables were evaluated: age at diagnosis, duration of symptoms, severity score of clinical symptoms, severity score of physical signs, and growth parameters (height and weight Z scores). Multiple regression analysis was performed to evaluate the relative importance of each clinical parameter. RESULTS Only three clinical variables revealed a significant correlation with the histopathology score. The symptom severity score (t = 3.883, p = 0.0003) demonstrated a positive correlation. The two others, age at diagnosis (t = 3.076, p = 0.0032) and duration of symptoms (t = -2.987, p = 0.0041), revealed a negative correlation. CONCLUSIONS We conclude that more severe clinical symptoms of a shorter duration, presented at a younger age, are better predictors of a more severe form of small bowel histopathology in children with celiac disease.

Pitfall in diagnosis of Crohn's disease in a cystic fibrosis patient.

Cystic fibrosis (CF) and Crohns disease may both present as failure to thrive and recurrent intestinal obstruction. Proper treatment and adequate nutrition may reverse these manifestations and improve the patients quality of life. We describe a girl with CF who, despite appropriate management, failed to grow and had several episodes of bowel obstruction. After the additional diagnosis of Crohns disease was reached, the patient improved on antiinflammatory and nutritional therapy. This patient illustrates the pitfall in the diagnosis of Crohns disease in a CF patient due to the clinical overlap between the two conditions. We suggest that therapeutic failure in a chronic disease justifies additional diagnostic efforts resulting in a completion of diagnosis and significant changes in management.

Fetal Echogenic Bowel at 17 Weeks’ Gestational Age as the Early and Only Sign of a Very Long Segment of Hirschsprung Disease

1125 To the Editor: We report a case of a 27-year-old woman evaluated in our gynecologic ultrasound ward at 17 weeks’ gestation because of echogenic bowel. Her medical history was negative for diseases, surgeries, allergies, and family diseases. Her obstetric history included 1 vaginal delivery at term and 1 spontaneous abortion at 6 weeks. During the early fetal anatomic scan with a 5MHz transducer, grade 3 echogenic bowel was detected (Figure 1). At 22 weeks, a late anatomic scan was performed, with no change in the abnormal findings (Figure 2). The patient’s evaluation included genetic amniocentesis, carrier status for cystic fibrosis, and serologic tests for TORCH (toxoplasmosis, other agents, rubella, cytomegalovirus, and herpes simplex), the results of which were all normal. At 33 weeks’ gestation, a follow-up sonographic examination showed small-bowel dilatation. At 38 weeks, the patient gave birth to a female neo nate weighing 3310 g with normal Apgar scores. The neonate underwent abdominal sonographic and radiographic examinations, which revealed dilated bowel loops consistent with bowel obstruction. She underwent surgery, which revealed an unused colon and dilated jejunum. A resection of the large bowel except 40 cm of ileum was performed by an ileostomy. An extremely enlarged colon (unused) was found (Figure 3). Severe cholinergic nerve fiber atrophy was seen. The smooth muscle was well preserved. The pathologic diagnosis was intestinal hypoplasia due to an absence of the myenteric plexus in the colon and small intestine. This case is unique as an early finding of echogenic bowel with the rare and severe form of Hirschsprung disease. Echogenic bowel is diagnosed in 0.2% to 1.4% of second-trimester sonographic examinations.1–3 This finding occurs as a normal variant but also has been associated with cystic fibrosis,1,4 chromosomal abnormalities,3,4 structural abnormalities, and in utero infection with cytomegalovirus and toxoplasmosis.5 This finding in women with elevated maternal serum α-fetoprotein levels during the second trimester might also be associated with an adverse pregnancy outcome due to uteroplacental insufficiency.6 Sonographic assessment of echogenic bowel is subjective, comparing the echogenicity with that of adjacent bone or liver and grading the bowel from 1 to 3.7,8 Sepulveda and Sebire9 reported a 34% rate of adverse perinatal outcomes among 10 studies that included 804 patients. Among those with bowel abnormalities, serial sonographic examinations should be performed during pregnancy follow-up to detect bowel obstruction. The variations in the sonographic appearances depend on the level of obstruction and whether the obstruction is complete or incomplete.10 Letters to the Editor