Allen C. Crocker

Radiation therapy in patients with histiocytosis: management of diabetes insipidus and bone lesions.

Abstract Patients with systemic histiocytosis (Letterer-Siwe Disease, Hand-Schuller-Christian Disease, and Eosinophilic Granuloma) were treated at our Center using combined modality therapy involving surgery, radiation therapy, and single or combination agent chemotherapy. The records of 148 patients were reviewed; 127 patients were evaluable with histopathologically confirmed diagnosis of disease classifiable to one of the above categories. Based on follow-up information with median follow-up time 8.5 years from diagnosis, a staging system was developed to classify patients according to severity of disease and prognosis. Children whose disease was diagnosed before they were 24 months of age, had a significantly worse prognosis than older children independent of number of systems involved, or number of bone lesions. Twenty-one patients were irradiated to the hypothalamus for attempted control of diabetes insipidus (D.I.); in 4 patients, complete reversal of symptoms and signs of DI occurred; they were able to discontinue pitressin for 2, 5, 5 and 25 years. Eighty-nine patients received radiation therapy in the course of their management to 380 fields for attempted control of bone lesions. In patients whose bone lesions were treated to doses ranging between 100 and 2000 rad, local control was achieved in 95% of courses. The absence of a dose-response curve in the radiocurability of local bone lesions reflects severity of other systems involvement, propensity for spontaneous resolution of lesions, and concomitant chemotherapy. Based on our analysis, radiation therapy is recommended, particularly for painful lesions and for large lesions of weight bearing bones and the axial skeleton. These data support the use of local radiation therapy in systemic histiocytosis for attempted control of diabetes insipidus, and in specific instances for control of painful or potentially debilating bone lesions.

Ocular Manifestations of Group A Niemann-Pick Disease

Four infants with Group A Niemann-Pick disease had similar ocular abnormalities secondary to this systemic disease. Each child demonstrated corneal opacification, brown discoloration of the anterior lens capsule, and retinal opacification with a macular cherry-red spot. These abnormalities were seen in each child during the first year of life and appeared stable. Recognition of this combination of ocular defects facilitates early identification of patients with Group A infantile Niemann-Pick disease.

The Involvement of Siblings of Children with Handicaps

Personal adaptation to the circumstances of human exceptionality is challenging for the primary individual and, in diverse aspects, for all others as well who are in that individual’s life system. In this regard, major attention has generally been accorded to responses and adjustments of the first person, and then to the situation of the parents and other care-providers. Less acknowledgment is offered to significant fellow adventurers, the sisters and brothers. Insinuations of ruination and/or redemption prevail, and evidence of a topical mythology can be found, but there is indeed a paucity of systematic information about outcomes. Assuredly a stress model exists here, yet one more in the long inventory of conditioning human experiences. “Am I my brother’s keeper?” is the plaintive inquiry, countered by the platitudinous assurance, “He ain’t heavy, Father, he’s my brother….”

Pediatric decisions in children with serious mental retardation.

Four areas of decision-making in the medical care of seriously retarded children are discussed: life-saving issues; supportive programs, such as elective surgery for socially handicapping cosmetic defects; study options, such as the use of consultative help to provide more specific descriptions of functional aberrations; and enrichment programs, such as preschool and day care programs, and group therapy for parents.

Gas-liquid chromatographic analysis of the tissue sterol fraction in Wolman's disease and related lipidoses.

Abstract Sterol fractions from tissues of patients with Wolmans disease and other lipidoses were analyzed by gas-liquid chromatography in an effort to determine whether any structurally abnormal analogues of cholesterol are produced in these disorders. Retention times relative to cholestane as an internal standard were first established for cholesterol and nine related sterols as trimethylsilyl ethers, both individually and in mixtures. The results of this study indicate that no meaningful quantities of any sterol other than cholesterol itself are present in the tissues examined. It is therefore concluded that although the inborn error in lipid metabolism associated with Wolmans disease might involve a malfunction in the biochemical mechanism regulating the rate of cholesterol production or disposal, it does not involve a metabolic block in the normal biosynthetic pathway to cholesterol.

The Handling of Down Syndrome and Related Terms in Modern Dictionaries

In the past two decades a social revolution has occurred, a revolution in which the human rights of persons with disabilities have been defined, promoted, and extensively secured. During this exciting period there has emerged a particular vitality to the advocacy for individuals with mental retardation, for whom vastly improved circumstances now exist regarding appropriate education, health care, employment, and community living. Among that group, persons with Down syndrome have often been in the forefront.

Nutritional Support, Including Intravenous Alimentation, for the Infant with Wolman’s Disease

Wolman’s disease was identified 15 years ago as a hereditary syndrome involving an inborn error of lipid metabolism. The visible expression of this handicap is an accumulation of ester cholesterol and triglyceride in foam cells in the viscera, and a resultant severe compromise in general body nutrition and development, for the homozygously affected infant. An early terminology for the condition, “Primary familial xanthomatosis with involvement and calcification of the adrenals” (Wolman et al, 1961), pointed out the remarkable adrenal changes; the significance of the functional effects from this pathology has remained uncertain. Although Wolman’s disease appears to be uncommon, a world-wide distribution is now documented, without an apparent increase in gene frequency in any particular population group. Families have been reported from Israel (both Jewish and Arab), Japan, New Zealand, England, Belgium, Canada (Toronto, Montreal), and the United States (Boston, Philadelphia, Cleveland, Los Angeles, Albany, and Charleston, W. Va.)