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Two cases of Tangier disease are described in children from families unrelated to each other. Necropsy in one case, the first to be reported in this condition, showed large collections of cholesterol-laden macrophages in tonsils, thymus, lymph nodes, and colon, and moderate numbers in pyelonephritic scars and ureter. As the storage cells may be scanty in(More)
Generalized arterial calcification in infancy is a rare disorder in which death usually occurs in infancy, the diagnosis generally being made at autopsy. Three patients are reported. The diagnosis was made during life in two, enabling new information to be collected. Cardiac catheterization in one provided evidence suggesting stiffness of pulmonary and(More)
Sequestrated meningocele of the scalp has seldom been reported and is difficult to diagnose. Clinically it resembles dermoid cyst, hemangioma, or alopecia; radiographs and computed tomographic scans reveal no cranial bone defect, and surgery discloses no communication with the cranial cavity. Histologically, the lesion is characterized by a loose(More)
The main problems in the diagnosis of rhabdomyosarcoma are 1) distinction of undifferentiated examples from other small cell malignancies, especially soft-tissue Ewing's tumor and lymphoma; 2) distinction of spindling examples from fibrosarcoma, leiomyosarcoma, malignant fibrous histiocytoma, polyhistioma, and other sarcomas; 3) recognition of minimal(More)
Among 3236 pediatric necropsies over 23 years, abnormal position of thymic tissue was recorded in 34 cases. Cardiac anomalies, predominantly those seen in DiGeorge syndrome, were present in 24; 3 had noncardiac anomalies only, 4 had other diseases, and 3 were sudden infant deaths. Mediastinal thymic tissue was absent in 22 cases, small or unilateral in 7,(More)
Two infants from unrelated families died on the 1st day of life with epignathus, duplication of the entire pituitary, infundibulum and sella, and widening or separation of midline structures of the head including absent corpus callosum. We suggest that some infants surviving surgery for large epignathi may have relatively symptomless absent corpus callosum(More)
In 50 necropsies on leukaemic children, the major cause of death was infection. In patients dying during therapy for induction or reinduction of remission, the most frequent infection was a distinctive neutropenic enterocolitis or typhlitis. This was seen in 46% of the whole series and was a major factor in the death in 38%. Other infections were(More)
Rhabdomyosarcoma of the heart is a rare tumor, especially in childhood and particularly in the left ventricle. A primary tumor of this type was successfully resected after echocardiographic assessment alone in a young girl exposed prenatally to diphenylhydantoin. The patient is well and free of recurrence 2 1/2 years later.