Clinical and Laboratory ObservationsLymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia☆
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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Cited by (21)
Ataxia-telangiectasia: Immunodeficiency and survival
2017, Clinical ImmunologyCitation Excerpt :In group 1b, five patients died from a malignancy (50%) and one from an unknown cause (Table 1). In addition to the seven patients in our cohort, 15 other patients with AT-HIGM were described in the literature [20,24–33]. We received additional information on survival for five patients that were alive at the time of publication (patients L2a, L3, L6, L7, and L14, Table 2).
Ataxia-telangiectasia: A review
2006, Archives de PediatriePrimary immunodeficiencies associated with DNA-repair disorders
2010, Expert Reviews in Molecular MedicineImaging in children with ataxia-telangiectasia—The radiologist’s approach
2022, Frontiers in PediatricsEffect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients
2021, Immunological Investigations
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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.