Intraplacental choriocarcinoma metastasizing to the maternal lung.

BACKGROUND: Although normal pregnancy is the precursor of 25% of cases of maternal choriocarcinoma, intraplacental choriocarcinoma in an otherwise normal placenta associated with viable pregnancy has rarely been reported. CASE: Examination of the placenta after delivery of a pale and small-for-date infant at term revealed intraplacental choriocarcinoma. There was no evidence of metastatic disease in the mother or child, but the mother exhibited postpartum rising levels of beta-HCG. The mother refused chemotherapy and disappeared from follow-up. Nine months later, she presented with metastatic choriocarcinoma of the lung. Eleven courses of the multi-drug EMA CO regimen effected a decrease of beta-HCG to normal and disappearance of lung metastases. To date, 28 months after the end of chemotherapy, the patient is alive and without evidence of gestational trophoblastic disease. Moreover, since then she has given birth to an additional two children. CONCLUSIONS: This case is an example of natural disease progression of intraplacental choriocarcinoma metastasizing to the mother. Furthermore, it supports common knowledge that the multi-drug EMA CO regimen is effective treatment in poor prognosis metastatic choriocarcinoma.

Duplication of distal 22q.

We report on three patients with duplication of distal 22q. One patient is a de novo carrier of the translocation t(21;22) (p13;q11), the other two are offspring of a translocation carrier t(10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q) syndrome.

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.

Electrical accidents during pregnancy.

Electrical accidents during pregnancy are relatively infrequent, and reports are rare. Six pregnant women who suffered an electrical injury during pregnancy are presented here. For all, the current path through the body was from hand to foot. Changes that occurred in fetal movements and development as well as the outcome of the pregnancies, are presented. After delivery, the placenta and cord were carefully examined in all cases. From an analysis of the published cases and the present findings, it seems that there are no specific clinical and pathological signs of fetoplacental damage. Medical examination, shortly after the accident, may reveal a dead fetus. However, when it is found alive, oligohydramnios or growth retardation may develop later, and a close follow-up seems advisable. Pregnant women should be warned to notify their attending physician in all cases of electrical shock, no matter how apparently minor.

Brain sarcoma of meningeal origin after cranial irradiation in childhood acute lymphocytic leukemia. Case report.

The authors report their experience with an unusual case of intracerebral sarcoma of meningeal cell origin in an 8 1/2-year-old girl. This tumor occurred 6 1/2 years after cranial irradiation at relatively low dosage (2200 rads) had been delivered to the head in the course of a multimodality treatment for acute lymphocytic leukemia. The tumor recurred approximately 10 months after the first surgical intervention. Macroscopic total excision of the recurrent growth followed by whole-brain irradiation (4500 rads) failed to eradicate it completely and local recurrence prompted reoperation 18 months later. This complication of treatment in long-term childhood leukemia survivors is briefly discussed, as well as the pathology of meningeal sarcomas.

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.

Iniencephaly. A case report.

Prenatal ultrasound diagnosed iniencephaly apertus at 21 weeks' gestation. In this rare central nervous system (CNS) malformation the brain and neck show the main pathologies. Retroflexion of the head with exaggerated cervicothoracic lordosis is always present, and CNS malformations in the form of anencephaly, spina bifida and encephalocele are often present. The ultrasonic diagnosis should be based on the finding of extreme dorsiflexion of the head accompanied by an abnormally short and deformed spine.

Cartilage within a thyroglossal duct anomaly.

A case of thyroglossal duct anomaly showing an unusual finding of foci of cartilage is presented. Although the concept of choristoma may explain the pathogenesis of cartilage within the present congenital anomaly, the histologic features were more in favor of a metaplastic process. In addition, the history of recurrent bouts of local inflammation supports the latter view.

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 Bartholin's duct cyst, lipoma, papilloma, hydradenoma, and fibroma.

Acute acalculous cholecystitis caused by Salmonella typhi in a 6-year-old child.

A rare case of acute acalculous cholecystitis caused by Salmonella typhi in a 6-year-old child is presented. The clinical signs were fulminant, with diffuse peritonitis being suspected. Cholecystostomy and i.v. ceftriaxone proved efficacious and the girl was discharged in less than two weeks. The appropriate literature is reviewed.

Palatal pleomorphic adenoma in a child.

Benign salivary gland tumours in childhood are rare. We present a case of a pleomorphic adenoma arising in a minor salivary gland within the hard palate, review the literature and discuss the diagnostic and therapeutic features of the condition.

Embryonal carcinoma of testis in elderly men.

A rare case of pure embryonal carcinoma of the testis in a 63-year-old man is presented. The literature on germ cell tumours in men 60 years of age and older is also presented.

Liposarcoma of the perineum and scrotum.

A case of liposarcoma of the perineum and scrotum, which presented as a huge haematoma and was left in place for three years prior to excision, is presented. The patient was treated by wide excision of the tumour, orchiopexy to the inguinal region and radiotherapy. To date, 30 months following surgery, the patient is completely asymptomatic and no tumour recurrence is evident either on physical and rectal examinations or on chest X-rays, ultrasonography and abdominal and pelvic computerized tomography.

[Ectopic pancreas in the gastric wall with massive bleeding].

A 30-year-old man was admitted because of fatigue, vertigo and 2 episodes of melena. Endoscopy showed a tumor in the gastric antrum which appeared benign, as was also its appearance on barium meal. The source of the bleeding was the mucosa overlying the tumor. Antrectomy was performed with Billroth I anastomosis. Histopathological examination revealed the tumor to be an ectopic pancreas in the gastric wall.

[Parathyroid adenoma in a child].

Parathyroid adenoma presenting as primary hyperparathyroidism is rare in childhood. We report a case in a 9-year-old Bedouin girl. The diagnosis was based on hypercalcemia, which was found accidentally, and elevated serum parathyroid levels. Ultrasonography, scintigraphy, computerized tomography and magnetic resonance imaging failed to detect the lesion. The diagnosis was only established at exploratory operation, when an adenoma was removed from the right upper pole of the thyroid.

[Plasma cell granuloma of the chest and lung in childhood].

Plasma cell granuloma is a benign, non-neoplastic lesion rarely found in children. It occurs mainly in the chest and lungs, the right lung mostly. Most cases are asymptomatic and are discovered incidentally on routine chest X-ray, although there may have been atypical upper respiratory symptoms. The X-ray findings, as well as those of other imaging modalities, are nonspecific, making the exact localization and diagnosis of the lesion difficult, as demonstrated in the cases of 2 boys aged 8 and 9 years, respectively. Locating the right diaphragm and its relation to the large lesion by various imaging modalities was unreliable in 1 of the cases. The large, dense, firm, adherent lesions were carefully and completely resected in both cases. In 1 case it was located in the right lung, pulmonary hilum and mediastinum. In the other, in the right pleural space in the supradiaphragmatic region, adherent to the posterolateral aspect of the lower ribs. Biopsies for frozen section should always be taken before deciding on the extent of surgery. Radical resection of normal surrounding tissue should be avoided. Our cases have been followed for 2 and 3 years respectively, with no evidence of recurrence. Prognosis is excellent when lesions are completely removed.

Low ALT blood levels predict long-term all-cause mortality among adults. A historical prospective cohort study.

BACKGROUND: Increased blood levels of alanine amino transferase (ALT, also known as SGPT; serum glutamic pyruvic transaminase) serve as a marker of liver injury by various mechanisms. Less is known about the clinical implications associated with low-normal ALT levels. Previous studies showed low ALT levels to be associated with poor long-term outcomes among elderlies, serving as a biomarker for increased incidence of frailty and subsequent risk of mortality. However, it has not been determined yet whether low-normal ALT values might be predictive of frailty and mortality in younger, middle-aged adults. METHODS: We conducted a historical prospective cohort analysis. RESULTS: A total of 23,506 adults with ALT levels within the normal range, at the mean age of 48 ± 11 years, participating in an annual screening program for preventive medicine, were followed-up for a median period of 8.5 years during which 638 died. Low-normal ALT values (serum ALT activity <17IU/L) were found to be predictive for increased risk of all-cause mortality (HR=1.6; 95% CI 1.34-1.92; p<0.001). Statistically significant correlation was demonstrated even after applying a multifactorial model correction for age, gender, eGFR, low albumin, arterial hypertension, diabetes mellitus and ischemic heart disease. CONCLUSIONS: We suggest that low-normal ALT values may serve as an independent predictive marker for increased long-term mortality in middle-aged adults.