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October 1970

Cretinism With Muscular Hypertrophy (Kocher-Debré-Sémélainge Syndrome): Histochemical and Ultrastructural Study of Skeletal Muscle

Author Affiliations

Bronx, NY
From the Saul R. Korey Department of Neurology (Dr. Spiro and Miss Beilin), the Department of Pathology (Neuropathology) (Dr. Hirano), and the Bela Schick Department of Pediatrics of the Albert Einstein College of Medicine (Drs. Spiro and Finkelstein), and the divisions of neurology (Dr. Spiro) and pediatrics (Drs. Spiro and Finkelstein), and the Laboratory Division (Dr. Hirano), Montefiore Hospital and Medical Center, Bronx, NY.

Arch Neurol. 1970;23(4):340-349. doi:10.1001/archneur.1970.00480280054006

THE unusual association of muscular hypertrophy with childhood hypothyroidism1-8 has been referred to as the Kocher-Debré-Sémélaigne (KDS) syndrome.1 The features of this syndrome include retarded intellectual, physical, osseous, and dental development, constipation, myxedema, bradycardia, a peculiar facies, a large tongue, coarse hair and skin, hypotonia, and prolonged deep tendon reflexes, as in cretinism,9 plus a generalized increase in the skeletal muscle mass, and an athletic, almost herculean, appearance. Descriptions of skeletal muscle pathology in this syndrome are sparse and contradictory.1,3-7

It is the purpose of this paper (1) to report the results of morphological, histochemical, and ultrastructural studies performed on muscle biopsies obtained from two hypothyroid children, one with muscular hypertrophy, as in the KDS syndrome, and one with normal muscular development, (2) to compare these results with previously published data, and (3) to attempt to relate them to some of the known biological effects

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