Chiari IV Malformation, the Lückenschädel and Sagittal Craniosynostosis Association: Case Report and Literature Review

Abstract

The association between Lückenschädel and craniosynostosis is unusual and unknown. Genetic origin is a possibility, representing one of many possible phenotypes for mutation. To the best of our knowledge, the association of such anomalies in a type IV Chiari malformation has never been reported before. The authors present the case of a patient with obstructive hydrocephalus, diagnosed with Chiari IV malformation associated with Lückenschädel and sagittal craniosynostosis. The Lückenschädel is the bone abnormality least commonly associated with Chiari malformation. It consists of a defect in the bones of membranous origin that form the cranial vault. This anomaly arises from periosteal dysplasia, and is characterized by rounded and irregular gaps in the skull, bound by bony ridges. Craniosynostosis is due to premature fusion of the cranial sutures and is sometimes associated with the Chiari complex of malformations. The diagnostic of Lückenschädel and craniosynostosis is done by imaging, through which the skull assumes the aspect of a hive, characteristic of Lückenschädel and it is possible to see the premature fusion of the sutures. The Lückenschädel usually does not require treatment because of spontaneous resolution; whereas, craniosynostosis warrants surgery for aesthetic and functional reasons. The Chiari malformation IV only requires treatment when it results in syringomyelia or hydrocephalus.

Resumo

O Lückenschädel e a craniossinostose são uma associação incomum e pouco conhecida, com possível origem genética, o que representa um dos muitos fenótipos possíveis para uma mutação. Até onde sabemos, a associação destas anomalias em um caso de malformação de Chiari tipo IV não foi relatada antes. Os autores apresentam o caso de um paciente com hidrocefalia obstrutiva, que foi diagnosticado com malformação de Chiari tipo IV associada com Lückenschädel e craniossinostose sagital. O Lückenschädel é a anormalidade óssea menos comum associada com a malformação de Chiari. É constituída por um defeito nos ossos de origem membranosa que formam a abóbada craniana. Esta anomalia surge de displasia do periósteo e é caracterizada por falhas arredondadas e irregulares no crânio, delimitadas por cristas ósseas. A craniossinostose se deve à fusão prematura das suturas cranianas e é por vezes associada com o complexo de malformações de Chiari. Os diagnósticos de Lückenschädel e craniossinostose são feitos por imagem, onde o crânio assume um aspecto de colmeia, característico de Lückenschädel, e é possível ver a fusão prematura das suturas. O Lückenschädel geralmente não requer tratamento por causa de resolução espontânea e craniosynostosis necessita de cirurgia para fins estéticos e funcionais. A malformação de Chiari IV só requer tratamento quando resulta em siringomielia ou hidrocefalia.

Keywords

Chiari malformation - Lückenschädel - craniosynostosis - hydrocephalus - ventriculostomy

Palavras-chave

malformação de Chiari - Lückenschädel - craniossinostose - hidrocefalia - ventriculostomia

• References

• 1 Vigliani MB. Luckenschadel skull: a forgotten entity. Obstet Gynecol 2008; 111 (2 Pt 2): 562-565
• 2 Tajima M, Yamada H, Kageyama N. Craniolacunia in newborn with myelomeningocele. Childs Brain 1977; 3 (5) 297-303
• 3 Rio CE, Pinckney LE, Kennedy LA. Craniolacunia without associated anomalies. Neuroradiology 1981; 22 (3) 155-157
• 4 Vogt EC, Wyatt GM. Cranilacunia (Lückenschädel) – a report of 54 cases. Anals of thw Twenty-fifth Annual Meeting of the Radiological Society of North America; 1939 december 11–15; Atlanta, USA
• 5 Sarnat HB. Disorders of segmentation of the neural tube: Chiari malformations. Handb Clin Neurol 2008; 87: 89-103
• 6 Carmel PW, Markesbery WR. Early descriptions of the Arnold-Chiari malformation. The contribution of John Cleland. J Neurosurg 1972; 37 (5) 543-547
• 7 Pearce JM. Arnold chiari, or “Cruveilhier cleland Chiari” malformation. J Neurol Neurosurg Psychiatry 2000; 68 (1) 13
• 8 Schijman E. History, anatomic forms, and pathogenesis of Chiari I malformations. Childs Nerv Syst 2004; 20 (5) 323-328
• 9 Tubbs RS, Elton S, Grabb P, Dockery SE, Bartolucci AA, Oakes WJ. Analysis of the posterior fossa in children with the Chiari 0 malformation. Neurosurgery 2001; 48 (5) 1050-1054 , discussion 1054–1055
• 10 Tubbs RS, Iskandar BJ, Bartolucci AA, Oakes WJ. A critical analysis of the Chiari 1.5 malformation. J Neurosurg 2004; 101 (2, Suppl) 179-183
• 11 Tajima M, Yamada H, Kageyama N, Nakamura S. [Craniolacunia in newborns with myelomeningocele and encephalocele (author's transl)]. No Shinkei Geka 1978; 6 (10) 975-979
• 12 Coley BD. Ultrasound diagnosis of luckenschadel (lacunar skull). Pediatr Radiol 2000; 30 (2) 82-84
• 13 Shigemori M, Honda E, Shojima K, Nagayama K, Takajyo N. [Two cases of craniolacunia associated with meningocele and meningoencephalocele (author's transl)-a1]. No Shinkei Geka 1976; 4 (8) 785-790
• 14 Stein S, Schut L, Borns P. Lacunar skull deformity (Lückenschädel) and intelligence in myelomeningocele. J Neurosurg 1974; 41 (1) 10-13
• 15 Gardner WJ, Poolos PN. Craniolacunia: The result of embryonal hydrocephalus?. Teratology 1976; 13 (2) 189-190
• 16 Chaudhari AM, Karas CS, Baig MN, Elton SW. Unique defect representing features of Chiari type III and IV malformations. Pediatr Neurosurg 2008; 44 (6) 513-514
• 17 Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994; 8 (1) 98-103
• 18 Schell U, Hehr A, Feldman GJ , et al. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 1995; 4 (3) 323-328
• 19 Liu J, Kwon T-G, Nam HK, Hatch NE. Craniosynostosis-Associated Fgfr2C342Y Mutant Bone Marrow Stromal Cells Exhibit Cell Autonomous Abnormalities in Osteoblast Differentiation and Bone Formation. BioMed Research International 2013; 2031: 11
• 20 Kelleher FC, O'Sullivan H, Smyth E, McDermott R, Viterbo A. Fibroblast growth factor receptors, developmental corruption and malignant disease. Carcinogenesis 2013; 34 (10) 2198-2205
• 21 Steinberger D, Müller U, Jünger TH, Howaldt HP, Christophis P. Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis. J Med Genet 1999; 36 (6) 499-500
• 22 Ito S, Sekido K, Kanno H , et al. Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations. J Neurosurg 2005; 102 (1, Suppl) 23-30
• 23 Renier D, Lajeunie E, Arnaud E, Marchac D. Management of craniosynostoses. Childs Nerv Syst 2000; 16 (10–11) 645-658
• 24 Abe H, Ikota T, Akino M, Kitami K, Tsuru M. Functional prognosis of surgical treatment of craniosynostosis. Childs Nerv Syst 1985; 1 (1) 53-61