We describe the case of a 12-year old boy with Hoyeraal-Hreidarsson Syndrome (HHS). This syndrome includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. HHS is a severe multisystem disorder associated with premature mortality, due to bone marrow failure. The pathogenesis and genetic basis presently is unknown. Onset of HHS has only been described in boys and reporters speculated that HHS may be a severe form of X-linked dyskeratosis congenita (DKC). In this paper, we reported an autosomal recessive form of HHS in a family. Almost all cases have died before 4 years (except one at 7 years) our patient is alive at his 12th year at all, probably because of autosomal recessive gene transmission.
Vol. 89 No. 9 (2004): September, 2004 : Case Reports
Ferrata Storti Foundation, Pavia, Italy
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