Skip to main content

Advertisement

SpringerLink
Log in

Association of Chiari malformation and vitamin B12 deficit in a family

  • Case Report
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Purpose

A clear etiology of Chiari malformation is still lacking. Some associations between this disorder and genetical variations have been reported. Documented cases of familial Chiari malformation in three consecutive generations are rare. Furthermore, an association of Chiari disorder and vitamin B12 deficit has rarely been described in literature.

Methods

In this study, three generations of a family suffering from Chiari 1 or Chiari 0 malformation have been examined with MRI, clinically and laboratory (hemograms).

Results

Chiari malformation could be confirmed in all presented patients: While the F2 generation (children: 1 × ♀, 1 × ♂) and the female F1 generation (mother and sister of mother) suffered from Chiari type 1, the male F0 generation showed Chiari 0 malformation. F0 and F1 generation further presented with syringomyelia (F0: C4-D1; F1: C4-D2). All patients except the grandfather (F0) underwent surgical posterior fossa decompression to relive successfully cerebellar and hydrocephalus associated progressing clinical symptoms. The hemograms of generation 1 and 2 revealed familial vitamin B12 deficit.

Conclusions

A hereditary component is discussed in Chiari malformation, yet proved etiology is still lacking. As folic acid plays an important role in the development of the neural tube, vitamin B12 deficit might have some impact on the development of Chiari malformations.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Aboulezz AO, Sartor K, Geyer CA, Gado MH (1985) Position of cerebellar tonsils in the normal population and in patients with Chiari malformation: a quantitative approach with MR imaging. J Comput Assist Tomogr 9:1033–1036

    Article  CAS  PubMed  Google Scholar 

  2. Azimullah PC, Smit LM, Rietveld-Knol E, Valk J (1991) Malformations of the spinal cord in 53 patients with spina bifida studied by magnetic resonance imaging. Childs Nerv Syst 7:63–66

    Article  CAS  PubMed  Google Scholar 

  3. Barkovich AJ, Wippold FJ, Sherman JL, Citrin CM (1986) Significance of cerebellar tonsillar position on MR. AJNR Am J Neuoradiol 7:795–799

    CAS  Google Scholar 

  4. Bayrakli F, Bilguvar K, Ceyhan D, Ercan-Sencicek AG, Cankaya T, Gunel M et al (2010) Heterozygous 5p13.3–13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Clin Genet 77:499–502

    Article  CAS  PubMed  Google Scholar 

  5. Bejjani GK, Cockerham KP (2001) Adult Chiari malformation. Contemp Neurosurg 23:1–7

    Google Scholar 

  6. Bernard JP, Suarez B, Rambaud C, Muller F, Ville Y (1997) Prenatal diagnosis of neural tube defect before 12 weeks gestation: direct and indirect ultrasonographic semeiology. Ultrasound Obstet Gynecol 10:406–409

    Article  CAS  PubMed  Google Scholar 

  7. Boyles AL, Enterline DS, Hammock PH, Siegel DG, Slifer SH, Speer MC et al (2006) Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. Am J Med Genet A 140:2776–2785

    PubMed  Google Scholar 

  8. Canki N (1984) Development of neural tube defects and genetic counselling. Jugosl Ginekol Obstet 24:45–48

    CAS  Google Scholar 

  9. Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Abdul-Rahman OA et al (2010) Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. Eur J Hum Genet 18:1216–1220

    Article  CAS  PubMed  Google Scholar 

  10. Case ME, Sarnat HB, Monteleone P (1977) Type II Arnold–Chiari malformation with normal spine in trisomy 18. Acta Neuropathol 37:259–262

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  12. Coria F, Quintana F, Rebollo M, Combarros O, Berciano J (1983) Occipital dysplasia and Chiari type I deformity in a family. Clinical and radiological study of three generations. J Neurol Sci 62:147–158

    Article  CAS  PubMed  Google Scholar 

  13. Fujisawa H, Hasegawa M, Kida S, Yamashita J (2002) A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia. J Neurosurg 97:396–400

    Article  CAS  PubMed  Google Scholar 

  14. Germain DP, Benistan K, Halimi P (2006) Chiari type I malformation in four unrelated patients affected with Fabry disease. Eur J Med Genet 49:419–425

    Article  PubMed  Google Scholar 

  15. Giménez-Roldán S, Benito C, Mateo D (1978) Familial communicating syringomyelia. J Neurol Sci 36:135–146

    Article  PubMed  Google Scholar 

  16. Gripp KW, Scott CI Jr, Nicholson L, Magram G, Grissom LE (1997) Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda. Skeletal Radiol 26:131–133

    Article  CAS  PubMed  Google Scholar 

  17. Guinto G, Zamorano C, Dominguez F et al (2004) Chiari I malformation Part I. Contemp Neurosurg 26:1–7

    Google Scholar 

  18. Herman MD, Cheek WR, Storrs BB (1990–1991) Two siblings with the Chiari I malformation. Pediatr Neurosurg 16:183–184

    Google Scholar 

  19. Hoffman HJ, Hendrick EB, Humphreys RP (1975) Manifestations and management of Arnold–Chiari malformation in patients with meningomyelocele. Childs Brain 1:255–259

    CAS  PubMed  Google Scholar 

  20. Holder-Espinasse M, Winter RM (2003) Type 1 Arnold–Chiari malformation and Noonan syndrome. A new diagnostic feature? Clin Dysmorphol 12:275

    Article  PubMed  Google Scholar 

  21. Iwasaki Y, Hida K, Onishi K, Nanba R (2000) Chiari malformation and syringomyelia in monozygotic twins: birth injury as a possible cause of syringomyelia–case report. Neurol Med Chir 40:176–178

    Article  CAS  Google Scholar 

  22. Martínez-Lage JF, Guillén-Navarro E, Almagro MJ, Felipe-Murcia M, López-Guerrero A, Galarza M (2010) Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. Childs Nerv Syst 26:13–18

    Article  PubMed  Google Scholar 

  23. Mavinkurve GG, Sciubba D, Amundson E, Jallo GI (2005) Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature. Childs Nerv Syst 21:955–999

    Article  PubMed  Google Scholar 

  24. McDonnell GV, McCann JP, Craig JJ, Crone M (2000) Prevalence of the Chiari/hydrosyringomyelia complex in adults with spina bifida: preliminary results. Eur J Pediatr Surg 10(Suppl 1):18–19

    Article  PubMed  Google Scholar 

  25. Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA (2007) Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation type I in patients with hereditary disorders of connective tissue. J Neurosurg Spine 7:601–609

    Article  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  27. Miró X, Zhou X, Boretius S, Michaelis T, Kubisch C, Gruss P et al (2009) Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube. Dis Model Mech 2:412–418

    Article  PubMed  Google Scholar 

  28. Opitz JM, Kaveggia EG (1974) Studies of malformation of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkg 117:1–18

    Article  CAS  Google Scholar 

  29. Peach B (1965) The Arnold–Chiari malformation; morphogenesis. Arch Neurol 12:527–535

    Article  CAS  PubMed  Google Scholar 

  30. Pober BR, Filiano JJ (1995) Association of Chiari I malformation and Williams syndrome. Pediatr Neurol 12:84–88

    Article  CAS  PubMed  Google Scholar 

  31. Rusbridge C, Knowler SP (2003) Hereditary aspects of occipital bone hypoplasia and syringomyelia (Chiari type I malformation) in cavalier King Charles spaniels. Vet Rec 153:107–112

    Article  CAS  PubMed  Google Scholar 

  32. Rusbridge C, Knowler SP (2004) Inheritance of occipital bone hypoplasia (Chiari type I malformation) in Cavalier King Charles Spaniels. J Vet Intern Med 18:673–678

    Article  PubMed  Google Scholar 

  33. Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Shinawi M et al (2011) Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet 19:152–156

    Article  PubMed  Google Scholar 

  34. Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Dobyns WB et al (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Hum Mutat 14:369–376

    Article  CAS  PubMed  Google Scholar 

  35. Speer MC, George TM, Enterline DS, Franklin A, Wolpert CM, Milhorat TH (2000) A genetic hypothesis for Chiari I malformation with or without syringomyelia. Neurosurg Focus 8(3):E12

    Article  CAS  PubMed  Google Scholar 

  36. Stovner LJ, Cappelen J, Nilsen G, Sjaastad O (1992) The Chiari type I malformation in two monozygotic twins and first-degree relatives. Ann Neurol 31:220–222

    Article  CAS  PubMed  Google Scholar 

  37. Szewka AJ, Walsh LE, Boaz JC, Carvalho KS, Golomb MR (2006) Chiari in the family: inheritance of the Chiari I malformation. Pediatr Neurol 34:481–485

    Article  PubMed  Google Scholar 

  38. Tubbs RS, Wellons JC 3rd, Blount JP, Oakes WJ (2004) Syringomyelia in twin brothers discordant for Chiari I malformation: case report. J Child Neurol 19:459–462

    PubMed  Google Scholar 

  39. Weisfeld-Adams JD, Carter MR, Likeman MJ, Rankin J (2007) Three sisters with Chiari I malformation with and without associated syringomyelia. Pediatr Neurosurg 43:533–538

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

Special thanks to all the colleagues who contributed to this paper and thanks for the positive suggestions. The corresponding author and the co-authors have received financial support for others than this study by the German Federal Ministry of Education and Research (BMBF). Dr. M. Welsch (née Schmitt) and Dr. S. Antes further on received financial support for purpose of education by Codman (Johnson and Johnson Company)/ Raynham, MA and Aesculap (Miethke)/ Tuttlingen, Germany, not concerning this study. Dr. R. Eymann and Prof. M. Kiefer received some financial support during the past for other than this research work by the Raumedic AG/ Helmbrechts, Germany.

Conflict of interest

The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

Author information

Authors and Affiliations

  1. Department of Neurosurgery, Mannheim University Hospital, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany

    Melanie Welsch

  2. Department of Neurosurgery, Medical School, Saarland University, Kirrberger Straße, Building 90.5, 66421, Homburg-Saar, Germany

    Sebastian Antes, Michael Kiefer & Regina Eymann

  3. Department of Pediatrics and Neonatology; Section Neuropediatrics, Saarland University, Homburg, Germany

    Sascha Meyer

Authors
  1. Melanie Welsch
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sebastian Antes
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Michael Kiefer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Sascha Meyer
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Regina Eymann
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Melanie Welsch.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Welsch, M., Antes, S., Kiefer, M. et al. Association of Chiari malformation and vitamin B12 deficit in a family. Childs Nerv Syst 29, 1193–1198 (2013). https://doi.org/10.1007/s00381-013-2056-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-013-2056-1

Keywords

Search

Navigation