Luís Morquio

Luís Morquio (1867 - 1935)

Luís Morquio (1867 – 1935) was a Uruguayan paediatrician.


Biography
  • Born 24 September 1867
  • 1887 – 1890 Medical degree, University of Montevideo
  • 1892 – MD, thesis on the treatment of typhoid fever.
  • 1893 – 1894 Further training in paediatrics in Paris at the Pasteur Institute and clinics of Marfan and Charcot
  • 1900 – Full Professor of Paediatrics, Montevideo
  • 1915 – Founder of Sociedad Uruguaya de Pediatría
  • 1930 – President of the International Save the Children Fund, Geneva
  • Died 19 June 1935

Medical Eponyms
Morquio syndrome (1929) [Morquio-Brailsford syndrome]

Severe form of skeletal dysplasia that had previously associated with cretinism and achondroplasia. Identified independently by Morquio and Brailsford in 1929. One of the group of hereditary specific lysosomal enzyme deficiencies which cause pathological accumulation and urinary excretion of incompletely degraded mucopolysaccharides. [mucopolysaccharidosis type IV]

Rare storage disease characterised by skeletal dysplasia (short trunk dwarfism); cervical cord compression; hepatomegaly; aortic incompetence; and deafness. Occurs in two forms depending on which gene is mutated:. A: with a deficiency of the enzyme galactosamine-6-sulphate sulphatase; B: with a deficiency of the enzyme B-galactosidase. Inheritance is autosomal recessive; familial influences are common.

In 1929, Morquio reported on a form of ‘familial skeletal dystrophy’ affecting four of five children born to consanguineous parents of Swedish descent.

James Frederick Brailsford (1888 – 1961) provided an independent account of the clinical and radiological features of a child with ‘chondro-osteo-dystrophy’


Charles, âgé de huit ans, naissance normale, nourri au sein pendant six mois.

On est frappé de la déformation du thorax, qui est prédominante… Le cou parait très court, la tête semble sortir directement du thorax. Proéminence sternal pointue, anguleuse, égale à celle de sa sôeur. Thorax très court, agrandi à sa base. Pas de chapelet costal. Abdomen gros, saillant.

Jambes en gene valgus. L’enfant peut marcher à petits pas, lentement, faisant des mouvements d’un côté à l’autre, comme un canard.

On ne trouve à l’origine de cette affection aucune cause de nature infectieuse ou toxique… Mais il faut tenir compte de la consanguinité des parents (cousins germains) eux-mêmes descendant aussi d’autres parents consanguins, ce qui augmente les caractères transmissibles.

Morquio L. 1929

Charles, aged eight years, normal birth, breastfed for six months.

One is struck by the deformity of the thorax, which is predominant… The neck is very short, the head appears to protrude directly from the thorax. Pointed sternal prominence, angulated, similar to that of his sister. Very short thorax, widened at its base. No rachitic rosary (costochondral thickening characteristic of Rickets). Large, protruding abdomen.

Legs in genu valgus. The child can walk small steps, slowly, hobbling from one side to the other like a duck.

One cannot determine any infectious or toxic nature at the origin of this affectation… But it must be remembered that the parents are consanguineous (cousins), themselves descending from other consanguineous parents, which increases the transmissible characteristics.  

Morquio L. 1929

Major Publications

References
Luis Morquio stamp - Stanley Gibbons 1411
Luis Morquio stamp

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Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books |

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