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Bruck-de Lange disease

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A congenital syndrome of muscular hypertrophy, extrapyramidal disorders, and mental deficiency. Symmetrical hypertrophy of the muscles together with a thick neck, broad shoulders and short and thick extremities give the affected child the appearance of a wrestler. Long list of symptoms include hardening, hypertrophy, and hypertonia of muscles, asymmetrical skull and head bent backward, large ears and tongue, low hairline. Pathological changes in the nervous system usually include porencephaly, underdevelopment of various parts of the brain, distention of the cerebral ventricles, asymmetry of the brain, large vermis, status spongiosus, destruction of the cerebral cortex, and hypertrophy of the fornix. Other characteristics include small heart, thickening of the oesophagus and intestines, and severe mental and motor retardation. The affected infants usually die before reaching two years of age. Occurrence is mostly sporadic, but there appears to be a familial tendency.


  • F. Bruck:
    Über einen Fall von congenitaler Makroglossie, kombiniert mit allgemeiner wahrer Muskelhypertrophie und Idiotie.
    Deutsche medicinische Wochenschrift, Berlin, 1889, 15: 229-232.
  • C. de Lange?
    Congenital hypertrophy of the muscles, extrapyramidal motor disturbances and mental deficiency. A clinical study.
    American Journal of Diseases of Children, Chicago, 1934, 48: 243-268.

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