Mette Warburg

Biography

• 1926 – Born January 23 in Copenhagen
• 1952 – Graduated medicine, University of Copenhagen
• 1963 – Associate professor of ophthalmology at Aarhus university
• 1967 – Defended her dissertation on Norrie’s disease – hereditary blindness, combined with hardness of hearing and ability weakness, described by Dane Gordon Norrie (1855-1941)
• 1971 – Care Center Lillemosegård, Buddinge
• 1974 – Chief physician at the children’s hospital in Vangede
• 1980 – Tagea Brandt Scholarship
• Centre for Handicapped Children, Division of Paediatric Ophthalmology and Handicaps, Gentofte, Denmark
• 2015 – Died March 11

Medical Eponyms

Walker-Warburg syndrome (1971)

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB). It is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. [OMIM #236670]

1942 – Arthur Earl Walker (1907-1995) first reported a syndrome of lissencephaly (Greek, ‘smooth brain’), hydrocephalus, microphthalmia, and retinal dysplasia.

A number of features, each a rarity, made this case unique. The absence of fissuration of the cerebral cortex, the agenesis of the corpus callosum, the lack of ocular development, the incomplete formation of the cerebellum and the maldevelopment of the subarachnoid space are unusual occurrences.

A. Earl Walker, 1942

1971 – Warburg described the heterogeneity of microphthalmia. In 1976, Warburg et al reviewed reports of 15 cases with an association between hydrocephalus and congenital retinal detachment. In 1978 Warburg observed this association in the son of first-cousin parents and proposed autosomal recessive inheritance

1989 – Dobyns et al described the diagnostic criteria for Walker-Warburg syndrome as the HARD +/- E syndrome, for (H) hydrocephalus, (A) agyria , (RD) retinal dysplasia, with or without (+/-E) encephalocele.

Major Publications

• Andersen SR, Warburg M. Norrie’s disease: congenital bilateral pseudotumor of the retina with recessive X-chromosomal inheritance; preliminary report. Arch Ophthalmol. 1961;66:614-618.
• Warburg M. The heterogeneity of microphthalmia in the mentally retarded. Birth Defects Orig Artic Ser. 1971;7(3):136-154.
• Warburg M. Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling. Hum Hered. 1976;26(2):137-48
• Warburg M. Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. Am J Ophthalmol. 1978;85(1):88-94.
• Warburg M. Ocular malformations and lissencephaly. Eur J Pediatr. 1987;146(5):450-452
• Warburg M. If only you do it well. Autobiography. Ophthalmic Genetics. 1996;17(4):131-144.

References

Biography

• Mikkelsen M. Mette Warburg (1926 – 2015). Dansk Biografisk Leksikon.
• Snorrason ESH. Mette Warburg. Dansk Biografisk Leksikon on lex.dk
• Beighton P, Beighton G. Warburg, Mette. In: The Person Behind the Syndrome. Springer 1996: 186-187
• Traboulsi EI, Lorenz B. A tribute to Mette Warburg. Ophthalmic Genetics, 1996; 17(4): 123-125
• Harper P. Interview with Mette Warburg. 2004
• Bibliography. Warburg, Mette. WorldCat Identities

Eponymous terms

• Walker AE. Lissencephaly. Archives of Neurology & Psychiatry. 1942; 48: 13-29.
• Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989 Feb;32(2):195-210.
• Walker-Warburg syndrome. NIH
• Muscular dystrophy-dystroglycanopathy. OMIM