Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.

We describe a 16-year-old boy who has a progressive dementia and seizures. On investigation, he was found to have a mitochondrial myopathy and elevated lactate levels in the blood and cerebrospinal fluid. His sister died at 18 years of age of a similar condition.

A case of generalized Wegener's granulomatosis in childhood: successful therapy with cyclophosphamide.

An 11-year-old white boy had Wegener's granulomatosis, a rare condition in the pediatric age group. The clinical course, pathological findings, and mode of treatment are outlined. The disease is in remission on a regimen of cyclophosphamide therapy as judged by both clinical and pathological criteria. This syndrome with protein manifestations should be considered in children with symptoms of repeated upper respiratory tract infections along with pulmonary and renal involvement. Early renal biopsy helps to establish the diagnosis of generalized involvement and to guide the course of treatment. Follow-up renal biopsies may serve as an indication for the continuation of treatment. Cytotoxic agents, especially cyclophosphamide, dramatically alter the course of the disease.

Chorioangiomas.

Six cases of chorioangioma of the placenta and a review of relevant leterature are presented. The incidence of chorioangiomas is higher than generally realized because many small chorioangiomas are missed in routine examination of placentas. A case of chorioangioma with foci resembling hemangiopericytoma is presented. Cases of large chorioangiomas seem to occur when the placenta is large. Hydramnios is commonly found with large chiorangiomas, and both of these conditions may be conducive to premature births. There is an increased incidence of toxemia in pregnant patients with chorioangiomas, and the condition is unrelated to the size of the tumor. Diligent examination of infants associated with chorioangioma of the placenta is suggested, as these infants may have unsuspected congenital anomalies.

Cystadenoma of the pancreas with cytomegalovirus infection in a female infant.

Cystadenoma of the pancreas, principally a disease of adult women, was found in a female infant. This benign, nonfunctional tumor is usually amenable to surgery and a cure is to be expected after extirpation. The pathogenesis of this mass is unknown, but the finding of a cytomegalovirus infection in an excretory duct at the tumor base in this case leads us to speculate that obstruction of the excretory duct is a possible cause.

Gonadoblastoma presenting as isosexual precocious puberty in a genetic female.

A 6 1/2-year-old female with pseudoprecocious puberty was found to have a gonadoblastoma. Her karyotype was 46, XX; serum estradiol level was markedly elevated; and androgens were within the range of normal. The importance of the Y chromosome and dysgenetic gonad in the predisposition to development of a gonadoblastoma is reviewed. A further categorization of gonadoblastomas based on the presence or absence of the Y chromosome is suggested.

Pyloric atresia associated with epidermolysis bullosa: special reference to pathogenesis.

Pyloric atresia and epidermolysis bullosa are both rare anomalies, and the coincidental occurrence of both is highly unlikely. The postmortem findings of 2 unrelated cases is presented, with special reference to the pathology and pathogenesis of pyloric atresia.

Epithelial lesions of bladder mucosa following ureteral reimplantation.

We report on 3 children who underwent ureteral reimplantation. Postoperatively, each patient had persistent, irritative, lower tract symptoms and continuous or recurring urinary infections, with or without gross hematuria. Because of these symptoms cystoscopy was done in 2 children and the third child under went repeat ureteral reimplantation because of persistent vesicoureteral reflux. At operation single or multiple hyperplastic, sessile lesions of the urothelium, not evident at the time of initial ureteral reimplantation, were discovered in each child. Histologically, these lesions showed proliferative and metaplastic glandular epithelial changes. Treatment consisted of transurethral fulguration and long-term antimicrobial medication plus partial cystectomy and topical intravesical chemotherapy for recurrent lesions in 1 child. The etiology of these epithelial lesions, although uncertain, is believed to be a response to long-standing inflammation.

Triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.

Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.