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Biomedical subjects

E V Perrin

Publications and source records attributed to E V Perrin.

16 recordsLinked to original sources
PubMed1986

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.

Child↗
PubMed1978

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.

Child↗
PubMed1976

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.

Abnormalities, Multiple↗
PubMed1975

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.

Adult↗