ATAXIA-TELANGIECTASIA, EXTRA-DERMAL GRANULOMAS, HYPER-IMMUNOGLOBULIN M SYNDROME.
- Irene D'Alba, Italy
Abstract
Background and Aims
Ataxia telangiectasia (A-T) is a devastating multi-system disorder characterized by progressive cerebellar ataxia, immunodeficiency, chronic pulmonary disease and chromosomal instability. Cutaneous granulomas are a known phenomenon in A-T but extra-dermal manifestation of granulomas at lymphoreticular system and lung has not been reported so far.
Methods
The clinical presentation, immunological findings, the course and discussion of potential treatment options of one patient will be reported.
Results
Here we report an A-T (c.6573-9G>A; c.8319ˍ8323dup) patient 6 years old with lymphadenopathy, splenomegaly, hepatomegaly, increasing pulmonary nodules ( from few millimeters to 1 centimeter in 6 months) (images 1-4) without respiratory symptoms. Immunoglobulin serum levels were: IgG 811 mg/dl (replacement on going: 600 mg/kg s.c.), IgA 32 mg/dl, IgM 1750 mg/dl, low CD4, absent CD4CD45RA ad low CD8. The biopsy of laterocervical lymph node showed a non-necrotizing follicle hyperplastic and granulomatous lymphadenopathy. No infection agents (mycobacteria, pneumocistys, fungi, CMV, EBV and HHV8) in the lymph node and in the bronchoalveolar lavage (BAL). We decided to perform an MRI of the lung after 3 months. A lung biopsy and all potential treatments are under discussion (steroids and monoclonal antibodies).
Conclusions
Little is known about the clinical presentation, course and treatment of granulomas in A-T; this is the first report of extra-dermal manifestation of granulomas lymphoreticular system and lung. In recent years new insight have been generated into granulomatous inflammation, this have made possible the increasing numbers of therapeutic agents targeting immune pathways, but actually there is no standard treatment