Revesz syndrome

Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation,^[1] ataxia because of cerebellar hypoplasia, and cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson Syndrome,^[2] which is related to Dyskeratosis congenita.

Causes & Treatment

The disease is genetic in nature and is thought to be caused by short telomeres. Patients with Revesz syndrome have presented with mutations in TINF2 and aspects of telomerase, both of which cause short telomeres. There is not yet a treatment.

History

The syndrome is named after the author of the original case published in 1992.^[3] The patient was a 6 month-old male from Sudan. At 7 months, the patient developed aplastic anemia, and subsequently died at 19 months. A second case was reported in 1994 in a young girl in Hungary. She had many of the same symptoms as the child in Sudan.^[4]

Epidemiology

Revesz syndrome has been observed only in children. Knowledge of the disease suffers though, as the low frequency of the disease, and lack of general knowledge of its symptoms results in the discovery and subsequent reporting of very few cases. Most physicians are simply unaware that the subset of symptoms associated with Revesz syndrome comprise a distinct disorder.

See also

• List of cutaneous conditions

Footnotes

References

• Online 'Mendelian Inheritance in Man' (OMIM) 300240
• Revesz T, Fletcher S, al-Gazali LI, DeBuse P (September 1992). "Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?". J. Med. Genet. 29 (9): 673–5. doi:10.1136/jmg.29.9.673. PMC 1016105. PMID 1404302. http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=1404302. 
• Kajtár P, Méhes K (February 1994). "Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs". Am. J. Med. Genet. 49 (4): 374–7. doi:10.1002/ajmg.1320490404. PMID 8160728.