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The term neurocristopathy has been applied to the association of Hirschsprung's disease, Ondine's curse (Congenital Hypoventilation Syndrome) and congenital neuroblastoma. Eight newborns with Hirschsprung's disease and Ondine's curse are discussed. Five of these have been seen by the authors. The remaining three patients are reported in the literature. In six of the infants (5 of ours, 1 from the literature) total colonic aganglionosis was found. Congenital neuroblastoma was present in two of the infants. In infants presenting with Hirschsprung's disease (especially of the long segment type) and breathing difficulties, the presence of a neurocristopathy should be considered. [ABSTRACT FROM AUTHOR]

Three cases of abdominal inflammatory pseudotumor or inflammatory myofibroblastic tumor of the small intestinal mesentery are presented with additional examples from the literature. An abdominal mass was detected in three preadolescent children who presented with fever, growth failure, hypochromic anemia, thrombocytosis and polyclonal hypergammaglobulinemia. The radiographic findings confirmed the presence of a mass. Following surgical resection, the systemic manifestations dramatically resolved. The solid mesenteric mass was composed of spindle cells with the features of myofibroblasts and mature plasma cells and small lymphocytes. Clinical follow-up confirmed the benign nature of this lesion with no signs of recurrence in any patient from 3 to 6 years after the initial surgery. [ABSTRACT FROM AUTHOR]

Accurate diagnosis of non-accidental injury (NAI) can be reached in the majority of cases by careful appraisal of the social and family history, combined with painstaking clinical roentgenographic and other imaging evaluations. Careful review of the scientific literature clearly indicates that collagen analysis to exclude mild forms of osteogenesis imperfecta, especially type IV, is recommended only in rare cases in which diagnosis of NAI remains in doubt even after thorough evaluation by experienced radiologists and/or other physicians. Until clinical research scientifically establishes the existence of temporary brittle bone disease, it should remain strictly a hypothetical entity and not an acceptable medical diagnosis. [ABSTRACT FROM AUTHOR]

Four new cases of punctate thymic calcification in infants with untreated Langerhans' cell histiocytosis (LCH) are added to the four previously reported cases. All cases were shown on CT scans; plain films were rarely diagnostic. Pathologic correlation remains elusive since the usual biopsies of the LCH have been on skin or bone biopsies. A single prior pathologic study of the thymus in untreated LCH showed microscopic calcospherites. The thymic punctate calcific densities in patients with LCH may represent further accretion so that the calcospherites become macroscopic. The finding of such punctate calcific densities in an enlarged thymus of an infant with skin or bone or lung disease is strongly suggestive of LCH.