Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report

Turk J Pediatr. 2000 Oct-Dec;42(4):334-7.

Abstract

An autopsy case of congenital infantile myofibromatosis and neonatal hemochromatosis is reported. A thirty-six-hour-old baby girl had multiple subcutaneous nodules in addition to multiple visceral involvement of heart, lungs, pharynx, larynx, stomach, small bowel, large bowel, pancreas, kidneys, spleen, thyroid, adrenal glands, lymph nodes, peripheral nerves, meninges and soft tissues. In these tumoral nodules, three types of histological patterns were observed: 1-hemangiopericytoma-like, 2-mixed, and 3-pure spindle cell. Tumor cells were immunohistochemically positive for actin, and negative for desmin, muscle-specific antigen, and estrogen, related protein. The histological and immunohistochemical findings of the case suggested that a close relationship may exist between infantile myofibromatosis and infantile hemangiopericytoma. In addition to infantile myofibromatosis, neonatal hemochromatosis characterized by iron deposition in parenchymatous organs such as liver, pancreas, lungs, thyroid, and adrenal glands was another important characteristic of the case.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Fatal Outcome
  • Female
  • Hemochromatosis / complications*
  • Humans
  • Immunohistochemistry
  • Infant, Newborn
  • Iron Overload / etiology
  • Liver Diseases / etiology
  • Myofibromatosis / complications
  • Myofibromatosis / congenital*
  • Myofibromatosis / pathology*