577 CASE REPORTS Patient 1 was born prematurely. Hy- potonia, ecchymoses, and an eczema- tous rash were noted at birth. He was unable to tolerate oral feeding because of apparent gut hypomotility, and jeju- nal atresia was suggested by findings on a barium swallow. Laparotomy on day 7 of life revealed a structurally nor- mal but atonic gut. Ganglion cells were present in biopsy specimens at all lev- els, but there was complete loss of mu- cosa with a dense submucosal chronic inflammatory infiltrate. Abnormal laboratory values included a platelet count of 34,000/mm 3 , pro- thrombin time of 17.4 seconds, and partial thromboplastin time of 112.4 sec- onds. Coombs-positive hemolytic ane- mia and jaundice were ascribed to blood group incompatibility. Hypothyroidism (thyroxine level, 4.5 μg/dL; thyrotropin level, 18.8 mU/L) was present. The patient was treated with L-thy- roxine, fluids, and antibiotics, but he failed to thrive. He died at 19 days from peritonitis after perforation at one of the biopsy sites. An autopsy re- vealed diffuse mucosal erosion of the entire gastrointestinal tract with ab- sence of normal crypts and villi. An ex- tensive chronic infiltrate existed in the submucosal layer. Pancreatic sections showed acute and chronic inflammato- ry infiltrates with areas of fibrosis; islet Neonatal diabetes mellitus is rare. 1 In many cases, it improves or resolves with age, and it is almost always isolat- ed. Occasionally, it has been reported in association with other clinical features including noninfectious en- teropathy, eczema, and other appar- ently autoimmune phenomena that are also rare in infancy. 2-14 In these cases, it is almost always fatal. In his catalogue, McKusick 15 divides the pre- sentations into 3 disorders: diarrhea, polyendocrinopathy, fatal infection syndrome (Online Mendelian Inheri- tance in Man 304930); DM, congenital insulin-dependent, with fatal secretory diarrhea (OMIM 304790); and im- Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome Ephrat Levy-Lahad, MD, and Robert S. Wildin, MD mune dysregulation, neonatal insulin- dependent diabetes, and diarrhea, X-linked recessive (OMIM 300063). Bennett et al 3 called the syndrome X-linked polyendocrinopathy, immune dysfunction, and diarrhea. Genetic link- age to markers in the chromosomal segment Xp11.23-Xq21.1 has been re- ported in 2 families. 2,3 In each case, the gene for Wiskott-Aldrich syndrome, which resides within the mapped inter- val, lacked mutations, suggesting that the root of this syndrome will be found in a different gene. Here, we describe a new family (Fig 1) in which 3 males, 2 full brothers and 1 maternal half broth- er, were affected. From the Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland; and Medical Genetics, Medicine A, Shaare Zedek Medical Center, Jerusalem, Israel. Submitted for publication Mar 27, 2000; revisions received July 3, 2000, and Aug 24, 2000; accepted Sept 7, 2000. Reprint requests: Robert S. Wildin, MD, Department of Molecular and Medical Genetics, Oregon Health Sciences University, Mailcode L103A, 3181 SW Sam Jackson Park Rd, Portland, OR 97201-3098. Copyright © 2001 by Mosby, Inc. 0022-3476/2001/$35.00 + 0 9/22/111502 doi:10.1067/mpd.2001.111502 DM Diabetes mellitus OMIM Online Mendelian Inheritance in Man WAS Wiskott-Aldrich syndrome We describe an unusual family with a fatal genetic syndrome of neonatal di- abetes mellitus (DM), enteropathy, endocrinopathy, and severe infections with variable thrombocytopenia. All affected individuals are male; X-linked inheritance is likely. The most common clinical features are neonatal DM, inanition, and enteropathy; a variety of other autoimmune phenomena are less frequent. Clinical variability within and among families is common, in- cluding lack of one or more cardinal features. The syndrome is usually fatal, but survival is sometimes possible with immunosuppressive therapy. Clini- cal variability and frequent new mutations may contribute to poor recogni- tion and underreporting of similar cases. (J Pediatr 2001;138:577-80)