Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
1 DPUO, Department of Pediatrics-University of Rome Tor Vergata/Children's Hospital Bambino Gesù, Rome
2 II School of Medicine, University "Sapienza", Rome
3 Department of Biology, University Roma Tre, Roma
Italian Journal of Pediatrics 2010, 36:29 doi:10.1186/1824-7288-36-29Published: 11 April 2010
Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.
We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.
A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.