Protein-losing enteropathy in prolonged post-ischemic ileitis.

A 10-year-old boy developed internal herniation of the small intestine associated with significant ischemia, which was reduced without resection. Severe diarrhea, hypoalbuminemia, and lymphopenia ensued while he was receiving total parenteral nutrition. Resolution of symptoms occurred only after resection of an area of ileum, which revealed persistent inflammation and atrophy. Postischemic epithelial cell regeneration of the intestine is discussed in light of this patient's protein-losing enteropathy.

Unilateral vesicoureteral reflux and unilateral nonfunctioning kidney associated with posterior urethral valves--a syndrome?

From 1964 to 1982 we treated 8 patients with unilateral vesicoureteral reflux and posterior urethral valves. The majority of these ureters with reflux are associated with ipsilateral renal nonfunction and prompt upper tract decompression appears to salvage few such kidneys. Contralateral function has been excellent and the long-term prognosis appears good. Of the 8 patients 6 ultimately underwent nephrectomy. Surprisingly, there was no evidence for true dysplasia or significant inflammation in these specimens. The segmental changes were most consistent with an acquired process, secondary to reflux rather than primary dysplasia.

Epidermoid cysts of the liver.

To the four recorded cases of epidermoid cysts of the liver are added two cases recently seen in children. One was in a 4-yr-old girl and associated with biliary cirrhosis. The other was in a 5-mo-old boy. The former was treated by roux-en-y cystjejunostomy, the latter by enucleation. The origin of these cysts is unknown. One theory suggests derivation from accessory foregut buds. Because of their malignant potential, treatment should be by excision. Where this is impossible, roux-en-y cystjejunostomy offers satisfactory palliation.

Asplenia syndrome in conjoined twins: a case report.

Incomplete fission of the primordial cell mass is generally believed to be the cause of conjoined twinning. It may also explain the tendency towards increased symmetry in these twins. We report a case of the rostral duplication type of conjoined twins with an absence of symmetry; one twin had the asplenia syndrome, whereas the other twin was normal. Local environmental factors acting upon the organ anlage may explain the asymmetric development in these conjoined twins.

Critical analysis of granulocyte function in 154 patients wtih different diseases.

Several granulocyte functions were analyzed in vitro in 154 patients with chronic or recurrent infections, as well as in a variety of disorders known or suspected to affect host resistance. Only a few specific abnormalities were diagnostic and occurred in congenital, hereditary disorders. Opposed to these permanent changes are those which were probably acquired or transient and are often multifactorial in origin. In the majority of these patients, an inconstant and nonspecific pattern emerged which is not helpful in the diagnosis of underlying disease. In selected patients, however, and as research procedures, these and related tests should be helpful in elucidating the basic functions of granulocytes and may implicate therapeutical approaches.

Disseminated mycobacterial histiocytosis due to M. Fortuitum associated with helper T-lymphocyte immune deficiency.

Mycobacterial histiocytosis is a rare disease usually associated with haematological or immunological disorders. We report a fatal case caused by M. fortuitum infection showing the typical disseminated histiocytosis. Immunological investigations revealed impaired cellular immunity demonstrated by negative skin tests with different "recall-antigens", and in vitro an isolated defect of helper T-lymphocytes in the peripheral blood which in combination with hypergammaglobulinemia suggests a "lymphocyte and distribution syndrome".

Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.

A 24-year-old Ashkenazi Jewish man was evaluated for a nine-year history of progressive leg weakness with fasciculations. Electromyography, nerve conduction velocities, muscle biopsy, and serum creatine kinase were consistent with anterior horn cell disease. On rectal biopsy, ganglion cells were filled with membranous cytoplasmic bodies and an unusual submucosal layer of periodic acid-Schiff positive histiocytes filled with granules was seen. Hexosaminidase A in serum and leukocytes was severely decreased in the patient and partially decreased in parents and a brother. A paternal relative had classic infantile Tay-Sachs disease. Juvenile spinal muscular atrophy in this patient, closely resembling the Kugelberg-Welander phenotype, resulted from an alpha-locus hexosaminidase deficiency disorder, possibly a genetic compound of HEX alpha 2 and a milder hexosaminidase alpha-locus allele. Other cases of hexosaminidase deficiency have included anterior horn cell disease as part of a more complex disorder, but this is the first case, to our knowledge, of a hexosaminidase deficiency disorder presenting as spinal muscular atrophy.

Lung injury induced by antibody fragments to angiotensin-converting enzyme.

Rabbits given goat anti-rabbit angiotensin-converting enzyme antibodies or derived antibody fragments develop rapidly fatal pulmonary edema. Endothelial cell injury is manifested by bleb formation and the disintegration of cell membranes. Platelets are found along the injured endothelium and leukocytes block capillary lumens. The pathologic features are similar when immune IgG, F(ab')2, or Fab are given. In vitro studies of complement activation show that solubilized, purified angiotensin-converting enzyme alone activates C1, with consumption of C4 and C3. Addition of immune IgG plus converting enzyme enhances this activation. F(ab')2 plus enzyme enhances only C3 consumption, while Fab with enzyme produces no additional complement utilization. Thus, while complement activation may be involved in the pathogenesis of injury induced by IgG or F(ab')2, the mechanism of Fab-induced endothelial injury remains unclear.

Calcific thrombi of the inferior vena cava in infants and children.

Calcified caval thrombus should be considered in any infant or child where calcifications are noted in the high right retroperitoneal area on plain x-rays of the abdomen. Although typically bullet-shaped in configuration, the calcium distribution in the neonate may be atypical or incompletely developed, suggesting neuroblastoma. Definitive diagnosis can be made by inferior vena cavagram. As no deaths or complications have been attributed to the lesion in the cases thus far reported, no specific treatment is recommended.

Distribution and development of angiotensin converting enzyme in the fetal and newborn rabbit. An immunofluorescence study.

The distribution and development of angiotensin converting enzyme (EC 3.4.15.1) were studied in fetal and newborn rabbits, using fixed tissues embedded in paraffin and stained with a fluorescein-conjugated antibody specific for the enzyme. The enzyme was found at the luminal plasma membrane of endothelial cells from the second third of gestation to the neonatal period. In addition, two types of epithelial cells also contained the enzyme, renal tubular and intestinal. The vascular enzyme may play a role in the regulation of its vasoactive peptide substrates, angiotensin and bradykinin, at term.

Extracardiac rhabdomyoma: a rare entity.

Extracardiac rhabdomyomas are rare benign lesions of striated muscle origin. A review of the world literature revealed about 27 acceptable cases of benign, adult-type rhabdomyoma with a distinct male predominance. In most of the reported cases, the tumor was located in the head and neck region, usually submucosal or deeper. The case reported here is unusual because the tumor was subcutaneously located in the neck. The tumor was fairly well circumscribed, multilobulated, and easily shelled out. Light microscopy showed large round to elongated cells with granular, highly eosinophilic cytoplasm, often with peripheral vacuolation. Cross striations were infrequent. The nuclei were often peripheral and had prominent nucleoli. Electron microscopic studies confirmed the tumor's myogenic origin. Myofibrils with Z band material, abundant mitochondria, and glycogen particles were observed.

Diagnosis oligohydramnios-related pulmonary hypoplasia (Potter syndrome): value of portable voiding cystourethrography in newborns with respiratory distress.

Potter renal nonfunctional syndrome is an association of facial and limb anomalies, pulmonary hypoplasia, and fetal renal anomalies which lead to marked oligohydramnios, including renal agenesis (true Potter syndrome), renal cystic dysplasia, and obstructive uropathies. Some infants survive long enough to develop severe respiratory distress secondary to pulmonary hypoplasia. The underlying renal disease is often noted only at autopsy. We studied four infants, only one of whom had clinical signs of the renal nonfunction syndrome. Portable voiding cystourethrography revealed a tiny bladder in three infants with cystic dysplasia kidneys (two of these infants had reflux into unused ureters). Bladder hypertrophy and vesicoureteral reflux secondary to posterior uretral valves were noted in the fourth infant.

Extraskeletal Ewing sarcoma. An ultrastructural study.

Soft tissue tumors with the characteristics of Ewing sarcoma of bone have thus far only been studied by light microscopy. A pelvic tumor of this type in a 13-year-old girl was examined by electron microscopy. Comparison of its ultrastructural features with those of reported cases of bony Ewing sarcoma reveal much similarity. It is believed that they are probably identical and that the tumor cells are of immature mesenchymal type. However, their site of origin and the direction of their potential differentiation remain obscure.

The radiologic and pathologic spectrum of the prune belly syndrome. The importance of urethral obstruction in prognosis.

The definition, history, and clinical presentation of the prune belly syndrome are outlined. Review of autopsy material and survivors reveal three groups of patients, and the author describes the choices of management available for both groups. Highlighted is the role of the radiologist.

Fatal desquamative interstitial pneumonia in an infant: case report with transmission and scanning electron microscopical studies.

Desquamative interstitial pneumonia in a young infant followed a rapidly fatal course and developed morphologic features of honey-combing, giant cell pneumonia, and pulmonary alveolar proteinosis. The rapid and fatal progression of the disease in spite of steroid therapy and the polymorphous histologic appearance of the lungs at autopsy raise doubt that the disease is a relatively benign and uniform entity and invalidate the classical initial histologic features as prognostic indicators.