Download PDF
Journal of Pediatric Neuroradiology 2015; 04(02): 041-044
DOI: 10.1055/s-0036-1579623
Case Report
Georg Thieme Verlag KG Stuttgart • New York

A Case Report of a Cervical Exostosis and Spinal Cord Compression in a Child with Trichorhinophalangeal Syndrome II

Shahme Farook
1   Department of Head and Neck Surgery, University College London Hospital, London, United Kingdom
,
Aekta Mistry
2   Department of Oral and Maxillofacial Surgery, Northwick Park Hospital, London, United Kingdom
,
Muniba Hussain
2   Department of Oral and Maxillofacial Surgery, Northwick Park Hospital, London, United Kingdom
,
Darach Crimmins
3   Department of Neurosurgery, Children's University Hospital, Dublin, Ireland
› Author Affiliations
Further Information

Publication History

10 June 2015

31 December 2015

Publication Date:
29 February 2016 (online)

    Permissions and Reprints

Abstract

Trichorhinophalangeal syndrome (TRPS) is an extremely rare complex genetic disorder with autosomal dominant inheritance. This case report discusses the management of a 4-year-old child with TRPS II (previously known as Langer–Giedion syndrome), who presented with right-sided hemiparesis and a limping gait secondary to spinal cord compression at the level of C1. Here, we document a child who underwent a successful decompressive laminectomy, highlighting the importance of a multidisciplinary team approach in managing rare and complex cases.

Keywords

trichorhinophalangeal syndrome - Langer–Giedion syndrome - hereditary multiple exostoses - spinal cord compression - cervical exostosis
 

  • References

  • 1 Chen LH, Ning CC, Chao SC. Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. Br J Dermatol 2010; 163 (2) 416-419
    CrossrefPubMedGoogle Scholar
  • 2 Tariq M, Ahmad S, Ahmad W. A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. Br J Dermatol 2008; 159 (2) 476-478
    CrossrefPubMedGoogle Scholar
  • 3 Michalek P, Doherty JT, Vesela MM. Anesthetic management of a child with Langer-Giedion (TRPS II) syndrome. J Anesth 2009; 23 (3) 456-459
    CrossrefPubMedGoogle Scholar
  • 4 Nakamura M, Tokura Y, Futami T, Miyachi Y, Utani A. Severe muscle weakness to necessitate rehabilitation in a case of trichorhinophalangeal syndrome type II. J Eur Acad Dermatol Venereol 2009; 23 (6) 710-712
    CrossrefPubMedGoogle Scholar
  • 5 Vaccaro M, Guarneri C, Blandino A. Trichorhinophalangeal syndrome. J Am Acad Dermatol 2005; 53 (5) 858-860
    CrossrefPubMedGoogle Scholar
  • 6 Burgess RC. Trichorhinophalangeal syndrome. South Med J 1991; 84 (10) 1268-1270
    CrossrefPubMedGoogle Scholar
  • 7 McBrien J, Crolla JA, Huang S, Kelleher J, Gleeson J, Lynch SA. Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion. Am J Med Genet A 2008; 146A (12) 1587-1592
    CrossrefPubMedGoogle Scholar
  • 8 Miyamoto K, Sakaguchi Y, Hosoe H , et al. Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome). Spinal Cord 2005; 43 (3) 190-194
    CrossrefPubMedGoogle Scholar
  • 9 Morioka D, Suse T, Shimizu Y, Ohkubo F, Hosaka Y. Langer-Giedion syndrome associated with submucous cleft palate. Plast Reconstr Surg 1999; 103 (5) 1458-1463
    CrossrefPubMedGoogle Scholar
  • 10 Hennekam RCM. Hereditary multiple exostoses. J Med Genet 1991; 28 (4) 262-266
    CrossrefPubMedGoogle Scholar
  • 11 Vantrappen G, Feenstra L, Frijns JP. Conductive hearing loss in the tricho-rhino-phalangeal syndrome (TRP II) or in the Langer-Giedion syndrome. Am J Med Genet 1997; 72 (3) 372-373
    CrossrefPubMedGoogle Scholar