Matjaž Homšak
Moj pediater d.o.o., Ljubljana, Slovenija

Mario Kulaš
Moj pediater d.o.o., Ljubljana, Slovenija

Tomaž Prelog
Klinični oddelek za hematologijo in onkologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Simona Lucija Avčin
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija in Katedra za pediatrijo, Medicinska fakulteta Univerze v Ljubljani, Ljubljana, Slovenija

Tina Vipotnik Vesnaver
Inštitut za radiologijo, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

We are presenting a case of a boy with Revesz syndrome, and through an example of his diagnostic pathway, we are presenting a differential diagnosis of pancytopenia and aplastic anaemia. Revesz syndrome is a rare and severe form of dyskeratosis congenita, belonging to the short telomere syndromes group. In addition to changes of skin and mucous membranes and aplastic anaemia, which are typical for dyskeratosis congenita, Revesz syndrome is carcinoma predisposing syndrome, characterised by microcephaly, calcifications in the brain, intrauterine growth restriction, and exudative retinopathy. We also presented a differential diagnosis of pancytopenia and aplastic anaemia through the boy‘s diagnostic pathway.

Key words: Revesz syndrome, Hoyeraal Hreidarsson syn-drome, dyskeratosis congenita, pancytopenia, aplastic anaemia