Clinical quiz. Abetalipoproteinemia.
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Biomedical subjects
Publications and source records attributed to R E Shenefelt.
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A fetus with 68,XX karyotype was ascertained by an elevated midtrimester MSHCG. By antenatal ultrasound, the only unusual finding was in relation to the placenta. Preterm delivery was mandated by the development of severe preeclampsia. Postmortem examination of the stillborn fetus demonstrated no abnormal physical findings other than bilateral syndactyly of fingers and toes.
Infants with large, rapidly growing tumors of the liver who exhibit preoperative signs of tumor necrosis (elevated uric acid or K+), having received no prior chemotherapy or radiation therapy, may be at risk for acute hyperkalemia during operative manipulation of the mass. In these patients, consideration should be given to careful monitoring of serum potassium throughout operative manipulation; cardiopulmonary bypass, to protect the heart from acute hyperkalemia; or to primary biopsy of the tumor with resection planned after chemotherapy. A case of fatal refractory hyperkalemia due to tumor lysis during a trisegmentectomy for hepatoblastoma in a 7-month-old girl who presented with a large, rapidly growing tumor and hyperuricemia is described.
A case of junctional nevus of the true vocal cord in a 10-year-old black girl is described. It appears to be the first reported case of lesion in the larynx. The significance of melanocytes in the larynx of a child is discussed.
The clinical, echocardiographic, cineangiocardiographic and autopsy findings in a newborn infant with right ventricular fibroma are reported. The tumor caused severe right ventricular outflow obstruction simulating cyanotic heart disease. Echocardiography allowed a definitive diagnosis of the tumor mass at 10 hours of age. The clinical implications of the case are discussed.
Temporal bone findings in a fetus with trisomy 13 syndrome and cyclopia may be histopathologically characterized by the dysplasia of bony and membranous labyrinth and of the nervous system. In the left ear, there was a shortened cochlea housing a malformed Corti's organ appearing as a ribbonlike structure, an unexpected canal running obliquely through the scala tympani, a peculiar shape of the utricular macula and posterior canal crista, and a delayed ossifying process in the otic capsule. The poor development of the structures in the seventh and eighth nerves and their ganglions was observed in both ears. The type of anomaly can be classified as Mondini or Mondini-Alexander. The several anomalies might involve the organs that begin to develop during the period from five to eight gestational weeks.
Traditional approaches to human and experimental teratology are briefly described, with roles of pathologists indicated. Some approaches to experimental teratology which pathologists might use are then described and illustrated. These include identification of subclasses of malformation types, study of the chronologic sequence of maldevelopment, study of embryo death, and examination of tumor-malformation relationships. The malformations used to illustrate these approaches are cleft palate, anencephaly, hydrocephalus, and intestinal atresia. The final section deals with general methodology in experimental teratology; a listing of books dealing with experimental teratology is included.
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