PEDIATRICS Vol. 54 No. 3 September 1974, pp. 373-375
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Chronic Granulomatous Disease in a Child With Klinefelter's Syndrome

Doris Y. Sanders M.D.1, H. O. Goodman Ph.D.1, and M. Robert Cooper M.D.1

1 Department of Pediatrics and Medicine, Bowman Gray School of Medicine, Winston-Salem, North Carolina

A 1-year-old white male child with Klinefelter's syndrome (chromosomal count of 47 XXY) was diagnosed as having chronic granulomatous disease (CGD). As this association is previously unreported to our knowledge, the case is recorded briefly.

CASE REPORT

This 1-year-old white male child was followed in the pediatric clinic of the Bowman Gray School of Medicine since the age of 3 months for hepatosplenomegaly, recurrent ear infections and a persistent skin rash involving the external nares and right submandibular area. The genitalia were observed to be small by the attending physician although both testes were palpable in the scrotum.

Laboratory studies at the age of 3 months included a hemoglobin of 9.6 gm/100 ml, hematocrit of 26%, red blood cell count of 3.2 million, white blood cell count of 24,300/cu mm, with a differential count of 55 neutrophils, 28 lymphocytes, 14 monocytes and 3 eosinophils.