Hurler's syndrome

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A metabolical disease characterized by dwarfism, hunchback, gargoyle like facies, mental retardation, and a large number of other abnormalities.

Description

Rare hereditary and congenital metabolical disease characterized by dwarfism, hunchback, coarse (gargoyle like) facies, mental retardation, clouding of the cornea and sensorineural deafness, hepatosplenomegaly, noisy respiration, cardiac abnormalities, and enlarged tongue. There is a protuberant abdomen, umbilical and inguinal hernias, coronary artery thickening, angina pectoris, decreased joint mobility and frequent chest infections.

Due to faulty degradation of dermatan and heparan sulphate with glycosaminoglycan storage in connective tissue caused by a-L-iduronidase deficiency. Heparitin sulphate and chondroitin sulphate B are excreted in the urine and anomalous granules are found in the lymphocytes and sometimes in the neutrophils.

Onset takes place in infants aged 6 to 12 months. An affected child may appear normal up to about 1 year of life and then the head may be noticed to be becoming abnormally large. Occurrence is 1:10.000 for both sexes and the affected child usually dies before 10 years of age. Inheritance is autosomal recessive. Johnie McL was a patient in whom the syndrome was observed.

See also Caffey’s pseudo-Hurler syndrome, or gangliosidosis Gm1 type 1, under John P. Caffey, American paediatrician, 1895-1978.

The term «gargoylism» has been applied to this syndrome because the gross disfiguration resembles the gargoyles of Gothic architecture.

The condition was first observed by John Thompson in 1900. In 1919, while training in paediatrics, Hurler described a syndrome of corneal clouding, dwarfing skeletal dysplasia, spinal malalignment and mental retardation. Her report was based upon two infants previously presented by her chief, Professor von Pfaundler, to the Munich Paediatric Society. This disorder, previously called gargoylism or lipochondrodystrophy, became known as Hurler's syndrome. Pfaunder's own case report was published in 1920 but his name never became firmly associated with the condition.

In 1917 during World War I, while serving in Europe as an army medical officer, Hunter gave a presentation at the Royal Society of Medicine, London, entitled "A rare disease in two brothers". These Canadian boys were aged 8 and 10 years at the time and the legendary Frederick Parkes Weber (1863-1962), who was present at the meeting, concurred with the diagnosis of "gargoylism".

Hurler did not mention Hunter's report, published in the Society's transactions, and as medical communication had been disrupted by the war it is likely that she was unaware of Hunter's article.

The term Hurler's syndrome is now reserved for MPS I, while Hunter's syndrome is the designation for MPS II.

Bibliography

  • C. A. Hunter:
    A rare disease in two brothers.
    Proceedings of the Royal Society of Medicine, London, 1917, volume 10, Section Dis. Children, 104-116.
  • G. Hurler:
    Über einen Typ multipler Abartungen, vorwiegend am Skelettsystem.
    Zeitschrift für Kinderheilkunde, Berlin, 1919, 24: 220-234.
  • M. Pfaundler:
    Demonstrationen über einen Typus kindlicher Dysostose.
    Jahrbuch für Kinderheilkunde und physische Erziehung, Berlin, 1920, 92: 420.
  • P. Maroteaux, M. Lamy:
    La pseudo-polydystrophie de Hurler.
    La presse médicale, Paris, 1966, 74: 2889-2892.

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