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Chiari I malformation and idiopathic growth hormone deficiency in siblings: report of three cases

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Abstract

Introduction

The authors report a case of three brothers.

Case descriptions

Two of these siblings presented with congenital growth hormone deficiency (GHD) and Chiari I malformation (CIM). The third younger brother has been found not to have GHD or the CIM.

Discussion

Sparse cases of these two clinical occurrences have been reported. Further, the posterior cranial fossa (PF) has been determined to be altered in patients with CIM and GHD.

Conclusion

Our current case reports strengthen the association between these two pathological entities and, to our knowledge, is the first description of both defects in siblings.

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References

  1. Boltshauser E (2004) Cerebellum—small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet 126:376–385

    Article  Google Scholar 

  2. Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert C, Speer MC (1999) Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 44:1005–1017

    Article  PubMed  CAS  Google Scholar 

  3. Nishikawa M, Sakamoto H, Hakuba A, Yasui T, Kitano S, Nakanishi N, Inoue Y (1997) Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa. J Neurosurg 86:40–47

    PubMed  CAS  Google Scholar 

  4. Schijman E (2004) History, anatomic forms, and pathogenesis of Chiari I malformations. Childs Nerv Syst 20:323–328

    Article  PubMed  Google Scholar 

  5. Tubbs RS, McGirt MJ, Oakes WJ (2003) Surgical experience in 130 pediatric patients with Chiari I malformations. J Neurosurg 99:291–296

    PubMed  Google Scholar 

  6. Atkinson JLD, Kokmen E, Miller GM et al (1998) Evidence of posterior fossa hypoplasia in the familial variant of adult Chiari I malformation: case report. Neurosurgery 42:401–404

    Article  PubMed  CAS  Google Scholar 

  7. Tubbs RS, Wellons JC 3rd, Smyth MD, Bartolucci AA, Blount JP, Oakes WJ, Grabb PA (2003) Children with growth hormone deficiency and Chiari I malformation: a morphometric analysis of the posterior cranial fossa. Pediatr Neurosurg 38:324–328

    Article  PubMed  Google Scholar 

  8. Marin-Padilla M, Marin-Padilla TM (1981) Morphogenesis of experimentally induced Arnold–Chiari malformation. J Neurol Sci 50:29–55

    Article  PubMed  CAS  Google Scholar 

  9. Cavender RK, Schmidt JH 3rd (1995) Tonsillar ectopia and Chiari malformations: monozygotic triplets. Case report. J Neurosurg 82:497–500

    Article  PubMed  CAS  Google Scholar 

  10. Yabe I, Kikuchi S, Tashiro K (2002) Familial syringomyelia: the first Japanese case and review of the literature. Clin Neurol Neurosurg 105:69–71

    Article  PubMed  Google Scholar 

  11. Zakeri A, Glasauer FE, Egnatchik JG (1995) Familial syringomyelia: case report and review of the literature. Surg Neurol 44:48–53

    Article  PubMed  CAS  Google Scholar 

  12. Hamilton J, Blaser S, Daneman D (1998) MR imaging in idiopathic growth hormone deficiency. AJNR Am J Neuroradiol 19:1609–1615

    PubMed  CAS  Google Scholar 

  13. Koga T, Abe T, Noriyuki H, Iwatani N, Otsuka T (1998) Isolated partial growth hormone deficient short stature with syringomyelia not associated with birth injury. Intern Med 37:674–677

    PubMed  CAS  Google Scholar 

  14. Arifa N, Léger J, Garel C, Czernichow P, Hassan M (1999) Anomalies malformatives cérébrales associees à l’insuffisance somatotrope chez l’enfant: Marqueurs majeurs pour le diagnostic? Arch Pediatr 6:14–21

    Article  PubMed  CAS  Google Scholar 

  15. Hamilton J, Chitayat D, Blaser S, Cohen LE, Phillips JA 3rd, Daneman D (1998) Familial growth hormone deficiency associated with MRI abnormalities. Am J Med Genet 80:128–132

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. University of Alabama School of Medicine, Birmingham, AL, USA

    R. Lee Murphy

  2. Department of Cell Biology, University of Alabama at Birmingham, Birmingham, AL, USA

    R. Shane Tubbs

  3. Pediatric Neurosurgery, Children’s Hospital, 1600 7th Avenue South ACC 400, Birmingham, AL, 35233, USA

    R. Shane Tubbs, Paul A. Grabb & W. Jerry Oakes

Authors
  1. R. Lee Murphy
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  2. R. Shane Tubbs
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  3. Paul A. Grabb
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  4. W. Jerry Oakes
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Corresponding author

Correspondence to R. Shane Tubbs.

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Murphy, R.L., Tubbs, R.S., Grabb, P.A. et al. Chiari I malformation and idiopathic growth hormone deficiency in siblings: report of three cases. Childs Nerv Syst 23, 1221–1223 (2007). https://doi.org/10.1007/s00381-007-0374-x

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  • DOI: https://doi.org/10.1007/s00381-007-0374-x

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