Abstract
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.
Highlights
Ataxia-telangiectasia (A-T) is an autosomal recessive genomic instability syndrome characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, increased radiosensibility, predisposition to lymphoid malignancies and a variable degree of immunodeficiency
A-T results from mutations of a single gene, ataxia-telangiectasia mutated (ATM), located on chromosome 11q22-23 [3,4], encoding a large basic protein involved in cell cycle control and DNA damaging repair
The typical cutaneous manifestation of the disease is ocular telangectasia some patients have no telangectasia, even in adulthood; cutaneous granulomatosis with no identifiable infectious origin occurs rarely in children with primary immunodeficiency [8,9,10]. These cutaneous granulomas have been previously described in common variable immunodeficiency [9,11,12,13], chronic granulomatous disease, X-linked hypogammaglobulinemia [14,15] but rarely in A-T [16,17,18,19]
Summary
Ataxia-telangiectasia (A-T) is an autosomal recessive genomic instability syndrome characterized by progressive cerebellar ataxia, oculo-cutaneous telangiectasia, increased radiosensibility, predisposition to lymphoid malignancies and a variable degree of immunodeficiency. * Correspondence: laura.folgori@gmail.com 1DPUO, Department of Pediatrics-University of Rome Tor Vergata/Children’s Hospital Bambino Gesù, Rome granulomatousis and severe combined immunodeficiency, without neurological abnormalities. Case Report A 3-year-old boy was referred to our Department of Pediatrics with a history of cutaneous lesions, recurrent otitis, repeated episodes of fever of unknown origin and suspected immunodeficiency.
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