Skip to main content
Top
Published in: Child's Nervous System 10/2007

01-10-2007 | Case Report

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

Authors: R. Lee Murphy, R. Shane Tubbs, Paul A. Grabb, W. Jerry Oakes

Published in: Child's Nervous System | Issue 10/2007

Login to get access

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.
Literature
1.
go back to reference Boltshauser E (2004) Cerebellum—small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet 126:376–385CrossRef Boltshauser E (2004) Cerebellum—small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet 126:376–385CrossRef
2.
go back to reference 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 44:1005–1017PubMedCrossRef 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 44:1005–1017PubMedCrossRef
3.
go back to reference 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 86:40–47PubMed 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 86:40–47PubMed
4.
go back to reference Schijman E (2004) History, anatomic forms, and pathogenesis of Chiari I malformations. Childs Nerv Syst 20:323–328PubMedCrossRef Schijman E (2004) History, anatomic forms, and pathogenesis of Chiari I malformations. Childs Nerv Syst 20:323–328PubMedCrossRef
5.
go back to reference Tubbs RS, McGirt MJ, Oakes WJ (2003) Surgical experience in 130 pediatric patients with Chiari I malformations. J Neurosurg 99:291–296PubMed Tubbs RS, McGirt MJ, Oakes WJ (2003) Surgical experience in 130 pediatric patients with Chiari I malformations. J Neurosurg 99:291–296PubMed
6.
go back to reference 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 42:401–404PubMedCrossRef 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 42:401–404PubMedCrossRef
7.
go back to reference 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 38:324–328PubMedCrossRef 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 38:324–328PubMedCrossRef
8.
go back to reference Marin-Padilla M, Marin-Padilla TM (1981) Morphogenesis of experimentally induced Arnold–Chiari malformation. J Neurol Sci 50:29–55PubMedCrossRef Marin-Padilla M, Marin-Padilla TM (1981) Morphogenesis of experimentally induced Arnold–Chiari malformation. J Neurol Sci 50:29–55PubMedCrossRef
9.
go back to reference Cavender RK, Schmidt JH 3rd (1995) Tonsillar ectopia and Chiari malformations: monozygotic triplets. Case report. J Neurosurg 82:497–500PubMedCrossRef Cavender RK, Schmidt JH 3rd (1995) Tonsillar ectopia and Chiari malformations: monozygotic triplets. Case report. J Neurosurg 82:497–500PubMedCrossRef
10.
go back to reference Yabe I, Kikuchi S, Tashiro K (2002) Familial syringomyelia: the first Japanese case and review of the literature. Clin Neurol Neurosurg 105:69–71PubMedCrossRef Yabe I, Kikuchi S, Tashiro K (2002) Familial syringomyelia: the first Japanese case and review of the literature. Clin Neurol Neurosurg 105:69–71PubMedCrossRef
11.
go back to reference Zakeri A, Glasauer FE, Egnatchik JG (1995) Familial syringomyelia: case report and review of the literature. Surg Neurol 44:48–53PubMedCrossRef Zakeri A, Glasauer FE, Egnatchik JG (1995) Familial syringomyelia: case report and review of the literature. Surg Neurol 44:48–53PubMedCrossRef
12.
go back to reference Hamilton J, Blaser S, Daneman D (1998) MR imaging in idiopathic growth hormone deficiency. AJNR Am J Neuroradiol 19:1609–1615PubMed Hamilton J, Blaser S, Daneman D (1998) MR imaging in idiopathic growth hormone deficiency. AJNR Am J Neuroradiol 19:1609–1615PubMed
13.
go back to reference 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 37:674–677PubMed 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 37:674–677PubMed
14.
go back to reference 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 6:14–21PubMedCrossRef 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 6:14–21PubMedCrossRef
15.
go back to reference 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 80:128–132PubMedCrossRef 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 80:128–132PubMedCrossRef
Metadata
Title
Chiari I malformation and idiopathic growth hormone deficiency in siblings: report of three cases
Authors
R. Lee Murphy
R. Shane Tubbs
Paul A. Grabb
W. Jerry Oakes
Publication date
01-10-2007
Publisher
Springer-Verlag
Published in
Child's Nervous System / Issue 10/2007
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-007-0374-x

Other articles of this Issue 10/2007

Child's Nervous System 10/2007 Go to the issue