Das Rett-Syndrom: Pathophysiologie und anästhesiologische Implikationen, dargestellt anhand eines Fallbeispiels

M. H. Häuser; P. Lukasewitz; A. Wichert; H. Lennartz

doi:10.1055/s-1999-10834

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Anästhesiol Intensivmed Notfallmed Schmerzther 1999; 34(9): 582-587
DOI: 10.1055/s-1999-10834

FALLBERICHT

Georg Thieme Verlag Stuttgart ·New York

Das Rett-Syndrom: Pathophysiologie und anästhesiologische Implikationen, dargestellt anhand eines Fallbeispiels

Rett's Syndrome: Pathophysiology and Anaesthesiological Implications.M. H. Häuser^* , P. Lukasewitz, A. Wichert, H. Lennartz

Abteilung für Anästhesie und Intensivtherapie (Direktor: Prof. Dr. H. Lennartz) Klinikum der Philipps-Universität Marburg

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Publication History

Publication Date:
31 December 1999 (online)

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Zusammenfassung.

Das Rett-Syndrom ist eine x-chromosomal vererbte Entwicklungsstörung des zentralen Nervensystems, die nur beim weiblichen Geschlecht auftritt. Nach anfänglich normal erscheinenden postpartalen Verlauf kommt es zu einem Entwicklungsstillstand und zum Verlust bereits erworbener geistiger, motorischer und sozialer Fertigkeiten. Im Endstadium liegen unter anderem Mikrozephalie, eine schwere geistige Retardierung, spastische Paraparese, Epilepsie, zentrale Atmungsstörungen, neurogene Skoliose sowie Kontrakturen und Fehlstellungen der Gelenke vor. Obwohl das Rett-Syndrom wahrscheinlich die häufigste Ursache einer progressiven geistigen Retardierung bei Mädchen darstellt, ist es noch weitgehend unbekannt. In dieser Arbeit wird das Syndrom und seine Pathophysiologie vorgestellt. Anhand der vorliegenden Kasuistik werden die sich aus der Unreife des kardiorespiratorischen Systems ergebenden anästhesiologischen Implikationen erörtert und eine Blutungskomplikation nach Einnahme von Valproinsäure beschrieben.

Schlüsselwörter: Rett-Syndrom - Anästhesie - Blutgerinnungsstörung - Valproinsäure - Mißbildung, angeborene

Rett's syndrome is a neurodevelopmental disorder which is caused by a mutation on the x-chromosome; thus, it only affects the female sex. After seemingly normal postnatal development affected girls lose already acquired mental, motoric and social skills. The last stage of the syndrome is characterized by microcephaly, severe mental retardation, spastic paraparesis, epilepsia, respiratory dysrhythmia, neurogenic scoliosis, abnormal joint alignment and muscle contractures. Rett's syndrome is probably the leading cause for progressive mental retardation in girls, but still it is relatively unknown. This paper describes Rett syndrome and its pathophysiology. The following case report discusses special anesthesiological implications due to the immature cardiorespiratory system and describes a coagulation disorder following treatment with valproic acid.

Key words: Rett's syndrome - Anaesthesia - Coagulation disorder - Valproic acid - Anomaly, congenital

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Dr. Franz Marcus Häuser

Abteilung für Anästhesie und Intensivtherapie

Klinikum der Philipps-Universität Marburg

Baldinger Straße 1

D-35043 Marburg