Clinical and Laboratory Observations
Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome

https://doi.org/10.1067/mpd.2001.111502Get rights and content

Abstract

We describe an unusual family with a fatal genetic syndrome of neonatal diabetes 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, including lack of one or more cardinal features. The syndrome is usually fatal, but survival is sometimes possible with immunosuppressive therapy. Clinical variability and frequent new mutations may contribute to poor recognition and underreporting of similar cases. (J Pediatr 2001;138:577-80)

Section snippets

Case Reports

Patient 1 was born prematurely. Hypotonia, ecchymoses, and an eczematous rash were noted at birth. He was unable to tolerate oral feeding because of apparent gut hypomotility, and jejunal atresia was suggested by findings on a barium swallow. Laparotomy on day 7 of life revealed a structurally normal but atonic gut. Ganglion cells were present in biopsy specimens at all levels, but there was complete loss of mucosa with a dense submucosal chronic inflammatory infiltrate.

Abnormal laboratory

Discussion

The affected males in the newly reported family had an inflammatory enteropathy manifesting as bowel hypomotility with a common histologic picture of mucosal erosion and a relatively primitive-appearing gut epithelium, endocrinopathy (hypothyroidism in 1, neonatal DM in 2, and parathyroid hormone resistance in 1), and thrombocytopenia and coagulopathy in 2. Patients 1 and 2 died at a few weeks of age, whereas patient 3, treated more expectantly, survived 5 months.

We believe these new cases

Acknowledgements

We thank Dr Raj Kapur for providing the pathologic description and illustration for case 2.

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