PEDIATRICS Vol. 45 No. 5 May 1970, pp. 753-765
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Juberg, R. C.
Right arrow Articles by Oberman, H. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Juberg, R. C.
Right arrow Articles by Oberman, H. A.

GENETIC DETERMINATION OF ACUTE DISSEMINATED HISTIOCYTOSIS X (LETTERER-SIWE SYNDROME)

Richard C. Juberg M.D., Ph.D.1, H. Warner Kloepfer Ph.D.1, and Harold A. Oberman M.D.1

1 Department of Pediatrics, West Virginia University School of Medicine, Morgantown, West Virginia; Departments of Anatomy and Pediatrics, Tulane University Medical School; Charity Hospital of Louisiana at New Orleans; and the Department of Pathology, University of Michigan Medical Center, Ann Arbor, Michigan

Male twins first developed maculopapular eruption of the scalp at 9 months of age and then of other cutaneous areas during the next 3 months. They manifested otorrhea, anemia, and abdominal enlargement at 11 months. They had fever, massive hepatosplenomegaly, and moderate lymphadenopathy when admitted to the hospital at 12 months. There were histiocytes in the skin and bone marrow. The clinical impression of monozygosity was confirmed by several criteria.

One twin died at 15 months with diarrhea, and the other twin died at 21 months after developing scattered osteolytic lesions and diabetes insipidus. Autopsy findings in both twins were characteristic of acute disseminated histiocytosis X with diffuse infiltration of nonlipidic histiocytes. An unusual finding was extensive liver involvement in both twins.

Evidence for genetic determination of the disease consists of analysis of the literature reports in three categories. Twin studies show three of four pairs of monozygotic twins concordant for the trait. Sibship analysis of the familial occurrence by the a priori method with correction for multiple ascertainment is consistent with the genetic hypothesis. One consanguineous mating has been reported among the seven sibships of familial occurrence.

We conclude that at least some instances of this disease result from a single, autosomal, recessive gene with slightly reduced penetrance.

Submitted on June 3, 1969
Accepted on January 7, 1970