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Hüftdysplasie und Morbus Scheuermann bei einem Mädchen mit Typ-II-Kollagenopathie

Hip dysplasia and spinal osteochondritis (Scheuermann’s disease) in a girl with type II manifesting collagenopathy

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Zusammenfassung

Zielsetzungen

Der Fallbericht beschreibt den natürlichen Verlauf von Hüftschmerzen und Rigidität der Brustwirbelsäule mit konsekutiver Entwicklung einer Kyphose bei einem Mädchen mit Mutation im Kollagen-2α-1-Gen (COL2A1), entsprechend einer Typ-II-Kollagenopathie.

Methoden

Die 14 Jahre alte Patientin wurde mit Hüft- und Rückenschmerzen vorstellig. Die klinische und radiologische Abklärung ergab eine Hüftdysplasie und eine thorakale Manifestation eines Morbus Scheuermann in Kombination mit Kleinwuchs. Aufgrund der auffälligen Befundkonstellation wurde eine genetische Testung und therapeutisch eine periazetabuläre Osteotomie nach Ganz durchgeführt.

Ergebnisse

Die genetische Analyse ergab eine heterozygote Mutation im Kollagen Typ-II-Gen (COL2A1-c. 1636G>A, p. G546S). Nach Durchführung der Beckenosteotomie nach Ganz zeigte sich neben einer Verbesserung des klinischen Status auch radiologisch eine signifikante Verbesserung des Migrationsindex, des Zentrum-Ecken(CE)- und Vertical-center-edge(VCE)-Winkels.

Schlussfolgerungen

Bei gleichzeitigem Auftreten von Hüftdysplasie und Scheuermann-Krankheit sollte eine Mutation des COL2A1-Gens in Betracht gezogen werden. Bislang existieren keine Literaturberichte über eine genetische Abklärung bei dieser Befundkonstellation.

Abstract

Objectives

This paper describes the natural course of irritable hip pain associated with spinal rigidity and pain in the thoracic region with subsequent development of mild kyphosis in a girl with a mutation in the collagen 2 alpha 1 gene (type II collagenopathy).

Methods

Phenotypic and genotypic characterization was carried out in a 14-year-old girl to identify the underlying pathology of severe irritable hip pain associated with thoracic spinal rigidity and pain. Detailed clinical examination, skeletal survey and genetic testing were performed accordingly. Bernese periacetabular osteotomy was used to alleviate pain and to improve the anatomical correlation of the acetabular and femoral heads.

Results

Short stature associated with acetabulo-femoral dysplasia, spinal osteochondritis (Scheuermann’s disease) and mild thoracic kyphosis were the most prominent abnormalities. Genetic analysis showed a heterozygous mutation in the collagen type II gene (COL2A1-c.1636G>A, p. G546S). A Bernese periacetabular osteotomy was performed to improve the clinical status of the patient. There was significant improvement in the extrusion index, the acetabular index and the lateral center-edge angle.

Conclusions

Hip dysplasia and Scheuermann’s osteochondritis have never been reported in connection with a mutation in COL2A1 (collagenopathy type II). Awareness is needed for careful phenotypic and genotypic characterization in patients with irritable hip pain and spinal stiffness.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. A. Al Kaissi, F. Laccone, C. Karner, R. Ganger, K. Klaushofer, F. Grill geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Authors and Affiliations

  1. Ludwig Boltzmann Institute of Osteology, Hanusch Hospital, Heinrich-Collin-Str. A-30, 1140, Wien, Österreich

    A. Al Kaissi, R. Ganger & K. Klaushofer

  2. Abteilung Molekulardiagnostik, Medizinische Universität Wien, Wien, Österreich

    F. Laccone

  3. Abteilung für Kinderorthopädie und Fußchirurgie, Orthopädisches Spital Speising, Wien, Österreich

    A. Al Kaissi, C. Karner & F. Grill

Authors
  1. A. Al Kaissi
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  2. F. Laccone
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  3. C. Karner
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  4. R. Ganger
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  5. K. Klaushofer
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  6. F. Grill
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Correspondence to A. Al Kaissi.

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Al Kaissi, A., Laccone, F., Karner, C. et al. Hüftdysplasie und Morbus Scheuermann bei einem Mädchen mit Typ-II-Kollagenopathie. Orthopäde 42, 963–968 (2013). https://doi.org/10.1007/s00132-013-2182-1

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  • DOI: https://doi.org/10.1007/s00132-013-2182-1

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