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Bloom's Syndrome

STEPHEN K. JONES, MD; SANDRA K. SURBRUGG, MD; WILLIAM L. WESTON, MD; EVA SUJANSKY, MD
Am J Dis Child. 1985;139(12):1180. doi:10.1001/archpedi.1985.02140140014009.
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Sir.—We read with interest the article by Vanderschueren-Lodeweyckx et al1 on the pitfalls in the diagnosis of Bloom's syndrome. We have also seen a child whose condition was initially diagnosed as Russell-Silver dwarfism; this child's condition later turned out to be Bloom's syndrome.

Patient Report.—An 18-month-old female infant was born at term, was 37.5 cm (15 in) in length, and weighed 1,346 g, despite an uneventful pregnancy. For the first four months of life, she suffered from persistent candidiasis, eventually responding to oral antifungal agents. She then developed severe pneumonia that lasted for almost three months, requiring hospitalization for six weeks. During this admission, she had low immunoglobulin levels, with an IgG level of 194 mg/dL (normal range, 639 to 1,349 mg/dL), an IgA level of 16 mg/dL (normal range, 70 to 312 mg/dL), and an IgM level of 56 mg/dL (normal range, 56 to 352 mg/dL).

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