Clinical and Laboratory Observations
Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia

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Abstract

An 8-year-old girl developed ataxia-telangiectasia. Western blotting of lysate revealed absence of the ATM protein, and 2 mutations in the ATM gene were found. Subsequently, the patient developed increased respiratory symptoms. Open lung biopsy revealed lymphocytic interstitial pneumonitis, which is not characteristic of ataxia-telangiectasia. There was a therapeutic response to glucocorticosteroid treatment. (J Pediatr 2001;138:939-41)

Section snippets

Case Report

An 8-year-old girl was born at term with no complications. Between the ages of 2 and 4 years, she developed a slightly abnormal gait, diffuse lymphadenopathy, hepatosplenomegaly, and telangiectasia on the conjunctivae and pinnae. The family history was negative for malignancy, consanguinity, or other affected relatives. Brain magnetic resonance imaging revealed mild to moderate loss of cerebellar volume involving both hemispheres and vermis. A liver biopsy specimen demonstrated chronic

Discussion

The patient has features that have not been reported in A-T including LIP, massive hepatosplenomegaly, and increased serum IgM concentrations. LIP involves a clinicopathologic pattern of pulmonary disease characterized by diffuse interstitial thickening and infiltration by lymphocytes and plasma cells. It is most commonly found in children with HIV infection and occurs rarely in children with hypogammaglobulinemia or juvenile rheumatoid arthritis.8, 9 The pathogenesis of LIP is uncertain,

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Reprint requests: Nutthapong Tangsinmankong, MD, All Children’s Hospital/University of South Florida, 801 Sixth St S, St Petersburg, FL 33701.

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