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FATAL FAMILIAL STEATOSIS OF MYOCARDIUM, LIVER AND KIDNEYS IN THREE SIBLINGS

ABSTRACT. Suprun, H. and Freudlich, E. (Departments of Pathology, Cytology and Pediatrics, Nahariyya Government Hospital, Nahariyya, Israel). Fatal familial steatosis of myocardium, liver and kidneys in three siblings. Acta Paediatr Scand, 70:247, 1981. – A 2‐day‐old male and 3‐day‐oId female child were born within the span of one year to two young and healthy unrelated parents with no history of any past illness. A third child was born two years later. After birth, the first born baby appeared well but became ill the following day with marked dyspnea, cyanosis, generalized flaccidity, bradycardia and finally total respiratory arrest. The second child suffered with an almost identical clinical picture and succumbed to its illness in a manner quite similar to that of its sibling brother. Likewise, the third child at the age of seven months became apathic, cyanotic and dyspneic. It died ten minutes after arrival in the hospital in a state of unconsciousness. Autopsies of all siblings demonstrated very similar macroscopic and microscopic findings of a peculiar diffuse intense fatty degeneration of the liver and myocardium with focal renal tubular epithelial involvement. Apparently, all three siblingssuffered with and died of a type of fatal steatosis affecting some of the most important organs of the body.