Kocher-Debré-Semelaigne syndrome

Classification according to ICD-10
E03.1	Congenital hypothyroidism without goiter
ICD-10 online (WHO version 2019)

The Kocher-Debre-Semelaigne syndrome is a rare congenital disease with a combination of hypothyroidism and an apparent muscle hypertrophy. This pseudohypertrophy of the muscles is caused by the long-standing hypothyroidism .

Synonyms are:

• Debre-Semelaigne syndrome
• Muscle pseudohypertrophy - hypothyroidism
• Hypothyroid muscle hypertrophy in the child.

The names refer to descriptions by the Swiss surgeon Emil Theodor Kocher in 1892, the German neurologist Johann Hoffmann in 1896 and the French paediatricians Robert Debré and Georges Semélaigne in 1934.

distribution

The disease is more common in girls in a ratio of 2: 1.

The frequency is not known.

root cause

The cause of muscle pseudohypertrophy is not known, but it is believed to be a result of long-term hypothyroidism. Hypothyroidism can be congenital or acquired.

clinic

The clinical changes start in childhood, but can also occur in newborns or small children. Signs of hypothyroidism are in the foreground, see Hypothyroidism # Clinical picture . In addition, there is muscle hypotonia associated with pseudohypertrophy, particularly in the extremities. These muscles have weak and slowed contractility . The muscles of the extremities , shoulder and pelvic girdles, trunk, hands and feet are particularly affected by pseudohypertrophy , which creates an athletic aspect, hence the impression of Infant Hercules Syndrome .

Next there is a place at an early stage myxedema .

diagnosis

The clinical signs usually lead to the diagnosis. There is often an increased activity of creatine kinase in the serum . A congenital hypothyroidism can by newborn screening are detected at an early stage.

Differential diagnosis

The Hoffmann syndrome is to be distinguished , in which painful spasms and pseudomyotonia also occur.

therapy

The treatment consists of the administration of thyroid hormones , which also allows muscle hypertrophy to regress.

literature

• SS Najjar, HS Nachman: THE KOCHER-DEBR'E-S'EM'ELAIGNE SYNDROME; HYPOTHYROIDISM WITH MUSCULAR "HYPERTROPHY". In: The Journal of pediatrics. Volume 66, May 1965, pp. 901-908, ISSN  0022-3476 . PMID 14279850 .
• A. Virmani, A. Gambhir, PU Iyer: Kocher Debre Semelaigne syndrome mimicking primary muscle disease. In: Indian pediatrics. Volume 27, Number 1, January 1990, pp. 88-89, ISSN  0019-6061 . PMID 2361750 .
• MS Tullu, VS Udgirkar, MN Muranjan, SA Sathe, JR Kamat: Kocher-Debre-Semelaigne syndrome: hypothyroidism with muscle pseudohypertrophy. In: Indian journal of pediatrics. Volume 70, Number 8, August 2003, pp. 671-673, ISSN  0019-5456 . PMID 14510090 .

Individual evidence

1. ↑ Where named it
2. ↑ ^{a b} B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .
3. ↑ Th. Kocher: For the prevention of cretinism and cretinoid states according to recent research. In: German journal for surgery . Leipzig 1892, 34, pp. 556-626.
4. ^ J. Hoffmann: Another contribution to the theory of tetany. In: German journal for neurology. 1896, 9, pp. 278-290.
5. ↑ R. Debré, G. Sémélaigne: hypertrophy musculaire généralisée du petit enfant. In: Bulletin de la Société de pédiatrie. Paris 1934, 32, pp. 699-706.
6. ↑ PMC 3029797 (free full text)
7. ↑ ^{a b c} Kocher-Debré-Semelaigne syndrome. In: Orphanet (Rare Disease Database).
8. ^ The Free Dictionary
9. ↑ Where named it

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !