Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

Abstract

A male infant was found to have bilateral exudative retinopathy at 6 months of age. A month later severe aplastic anaemia was diagnosed, eventually leading to the infant's death. Additional features of this seemingly new syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation.

Revesz syndrome

“…Progressive bilateral Coats retinopathy has been described by other authors (3,4) , but the hemorrhagic component in this case impaired the visualization of retinal alterations. Our patient developed retinal detachment, similar to other cases (4,5) .…”

“…In 1992, Revesz et al first described this syndrome in a male infant with bilateral exudative retinopathy who developed aplastic anemia that led to his death. The child also had a history of intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia due to cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation (1)(2)(3) . Here, we describe the ocular and clinical findings in a female patient who started to manifest symptoms within 1 year and one-month-old.…”

“…Regarding the neurological findings (hypoplasia and multiple cerebral calcifications), delayed neuropsychomotor development is a common feature in most patients with Revesz syndrome (3,5) .…”

“…Few patients with Revesz syndrome have been reported, and the clinical features have not been fully delineated. Significant clinical variation exists among patients (1)(2)(3)(4) . This report describes the first brazilian case of Revesz syndrome and its ocular and clinical features.…”

The role of telomere biology in bone marrow failure and other disorders

“…Hoyeraal-Hreidarsson (HH) Syndrome is a severe form of DC with BMF, immunodeficiency, microcephaly, cerebellar hypoplasia, intrauterine growth retardation, and developmental delay (Sznajer et al 2003;Vulliamy et al 2006). Revesz Syndrome, characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growth retardation, also appears to be in the DC disease spectrum (Kajtar and Mehes 1994;Revesz et al 1992). …”