nach oben

Erschienen in:

17.08.2017 | Paediatric Neuroradiology

Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia

verfasst von: Rosalinda Calandrelli, Marco Panfili, Gabriella D’Apolito, Giuseppe Zampino, Alessandro Pedicelli, Fabio Pilato, Cesare Colosimo

Erschienen in: Neuroradiology | Ausgabe 10/2017

Einloggen, um Zugang zu erhalten

Abstract

Purpose

We propose an magnetic resonance imaging (MRI)-based quantitative morphovolumetric approach to the posterior cranial fossa (PCF) and craniocervical junction (CCJ) changes in achondroplastic patients investigating possible associations with ventriculomegaly and medullary compression.

Methods

We analyzed MRI of 13 achondroplastic children not treated by surgery. 3D FSPGR T1-weighted images were used to analyze (1) PCF synchondroses; (2) PCF volume (PCFV), PCF brain volume (PCFBV), PCFV/PCFBV ratio, cerebellar volume, cerebrospinal fluid (CSF) spaces volume, and IV ventricle volume; (3) PCF (clivus, supraocciput, exocciput lengths, tentorial angle) and CCJ (AP and LL diameters of foramen magnum (FM)) morphometry; (4) measurements of FM and jugular foramina (JF) areas; and (5) supratentorial ventricular volume.

Results

All patients showed synostosis of spheno-occipital synchondroses, eight showed synostosis of intra-occipital synchondroses, nine showed CCJ impingement on the cervical cord but only three had cervical myelopathy. Compared to controls, clivus and exocciput lengths, LL and AP diameters of FM, FM area and JF area were significantly reduced, supraocciput length, tentorial angle, PCFV, PCFBV, cerebellar volume, supratentorial ventricular system volume were significantly increased. A correlation was found between clivus length and supratentorial ventricular volume, premature closure of intra-occipital synchondroses and FM area while a trend was found between FM area and supraocciput length.

Conclusion

Our analysis demonstrates a relationship between the shortening of the clivus and the ventriculomegaly. On the other hand the premature closure of PCF synchondroses, the shape, and the growth direction of supraocciput bone contribute to reduce the FM area, causing in some patients medullary compression.

Zucconi M, Weber G, Castronovo V, Ferini-Strambi L, Russo F, Chiumello G, Smirne S (1996) Sleep and upper airway obstruction in children with achondroplasia. J Pediatr 129(5):743–749CrossRefPubMed

Moritani T, Aihara T, Oguma E, Makiyama Y, Nishimoto H, Smoker WR, Sato Y (2006) Magnetic resonance venography of achondroplasia: correlation of venous narrowing at the jugular foramen with hydrocephalus. Clin Imaging 30(3):195–200. doi:10.1016/j.clinimag.2005.10.004 CrossRefPubMed

Ryken TC, Menezes AH (1994) Cervicomedullary compression in achondroplasia. J Neurosurg 81(1):43–48. doi:10.3171/jns.1994.81.1.0043 CrossRefPubMed

Ruiz-Garcia M, Tovar-Baudin A, Del Castillo-Ruiz V, Rodriguez HP, Collado MA, Mora TM, Rueda-Franco F, Gonzalez-Astiazaran A (1997) Early detection of neurological manifestations in achondroplasia. Childs Nerv Syst 13(4):208–213. doi:10.1007/s003819770001 CrossRefPubMed

Wang H, Rosenbaum AE, Reid CS, Zinreich SJ, Pyeritz RE (1987) Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. Radiology 164(2):515–519. doi:10.1148/radiology.164.2.3602395 CrossRefPubMed

Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, Kim SG, Song HR (2012) New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. Am J Med Genet A 158A(10):2456–2462. doi:10.1002/ajmg.a.35564 CrossRefPubMed

Benglis DM, Sandberg DI (2007) Acute neurological deficit after minor trauma in an infant with achondroplasia and cervicomedullary compression. Case report and review of the literature. J Neurosurg 107(2 Suppl):152–155. doi:10.3171/PED-07/08/152 PubMed

Bauer AM, Mueller DM, Oro JJ (2005) Arachnoid cyst resulting in tonsillar herniation and syringomyelia in a patient with achondroplasia. Case report. Neurosurg Focus 19(5):E14CrossRefPubMed

Ozcetin M, Arslan MT, Karapinar B (2012) An achondroplasic case with foramen magnum stenosis, hydrocephaly, cortical atrophy, respiratory failure and sympathetic dysfunction. Iran J Pediatr 22(1):121–124PubMedPubMedCentral

10.

Kao SC, Waziri MH, Smith WL, Sato Y, Yuh WT, Franken EA Jr (1989) MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. AJR Am J Roentgenol 153(3):565–569. doi:10.2214/ajr.153.3.565 CrossRefPubMed

11.

DiMario FJ Jr, Ramsby GR, Burleson JA, Greensheilds IR (1995) Brain morphometric analysis in achondroplasia. Neurology 45(3 Pt 1):519–524CrossRefPubMed

12.

Jha RM, Klimo P, Smith ER (2008) Foramen magnum stenosis from overgrowth of the opisthion in a child with achondroplasia. J Neurosurg Pediatr 2(2):136–138. doi:10.3171/PED/2008/2/8/136 CrossRefPubMed

13.

Marin-Padilla M, Marin-Padilla TM (1977) Developmental abnormalities of the occipital bone in human chondrodystrophies (achondroplasia and thanatophoric dwarfism). Birth Defects Orig Artic Ser 13(3D):7–23PubMed

14.

Aryanpur J, Hurko O, Francomano C, Wang H, Carson B (1990) Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. J Neurosurg 73(3):375–382. doi:10.3171/jns.1990.73.3.0375 CrossRefPubMed

15.

Pauli RM, Horton VK, Glinski LP, Reiser CA (1995) Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 56(3):732–744PubMedPubMedCentral

16.

Bruhl K, Stoeter P, Wietek B, Schwarz M, Humpl T, Schumacher R, Spranger J (2001) Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction. Eur J Pediatr 160(1):10–20CrossRefPubMed

17.

Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R (1989) Growth of the foramen magnum in achondroplasia. Am J Med Genet 32(4):528–535. doi:10.1002/ajmg.1320320421 CrossRefPubMed

18.

Cohen ME, Rosenthal AD, Matson DD (1967) Neurological abnormalities in achondroplastic children. J Pediatr 71(3):367–376CrossRefPubMed

19.

Monteforte F, Giannoni M (2013) Atlante TC neurocranio e splancnocranio: anatomia e varianti. Piccin, Padova

20.

Cendekiawan T, Wong RW, Rabie ABM (2010) Relationships between cranial base synchondroses and craniofacial development: a review. Open Anat J 2:67–75CrossRef

21.

Calandrelli R, D'Apolito G, Gaudino S, Sciandra MC, Caldarelli M, Colosimo C (2014) Identification of skull base sutures and craniofacial anomalies in children with craniosynostosis: utility of multidetector CT. Radiol Med 119(9):694–704. doi:10.1007/s11547-014-0387-y CrossRefPubMed

22.

Bosemani T, Orman G, Hergan B, Carson KA, Huisman TA, Poretti A (2015) Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. Childs Nerv Syst 31(1):129–133. doi:10.1007/s00381-014-2559-4 CrossRefPubMed

23.

Schmidt MJ, Volk H, Klingler M, Failing K, Kramer M, Ondreka N (2013) Comparison of closure times for cranial base synchondroses in mesaticephalic, brachycephalic, and Cavalier King Charles Spaniel dogs. Vet Radiol Ultrasound 54(5):497–503. doi:10.1111/vru.12072 CrossRefPubMed

24.

Sekula RF Jr, Jannetta PJ, Casey KF, Marchan EM, Sekula LK, McCrady CS (2005) Dimensions of the posterior fossa in patients symptomatic for Chiari I malformation but without cerebellar tonsillar descent. Cerebrospinal Fluid Res 2:11. doi:10.1186/1743-8454-2-11 CrossRefPubMedPubMedCentral

25.

Geerdink N, van der Vliet T, Rotteveel JJ, Feuth T, Roeleveld N, Mullaart RA (2012) Interobserver reliability and diagnostic performance of Chiari II malformation measures in MR imaging—part 2. Childs Nerv Syst 28(7):987–995. doi:10.1007/s00381-012-1763-3 CrossRefPubMedPubMedCentral

26.

Calandrelli R, D'Apolito G, Marco P, Zampino G, Tartaglione T, Colosimo C (2015) Costello syndrome: analysis of the posterior cranial fossa in children with posterior fossa crowding. Neuroradiol J 28(3):254–258. doi:10.1177/1971400915592549 CrossRefPubMedPubMedCentral

27.

Vatansever D, Kyriakopoulou V, Allsop JM, Fox M, Chew A, Hajnal JV, Rutherford MA (2013) Multidimensional analysis of fetal posterior fossa in health and disease. Cerebellum 12(5):632–644. doi:10.1007/s12311-013-0470-2 CrossRefPubMed

28.

Yushkevich PA, Piven J, Hazlett HC, Smith RG, Ho S, Gee JC, Gerig G (2006) User-guided 3D active contour segmentation of anatomical structures: significantly improved efficiency and reliability. NeuroImage 31(3):1116–1128. doi:10.1016/j.neuroimage.2006.01.015 CrossRefPubMed

29.

Yuan H, Huang L, Hu X, Li Q, Sun X, Xie Y, Kong S, Wang X (2016) FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset. Orphanet J Rare Dis 11(1):89. doi:10.1186/s13023-016-0465-4 CrossRefPubMedPubMedCentral

30.

Hasegawa K, Fukuhara R, Moriwake T, Tanaka H, Higuchi Y, Yamashita M, Tsukahara H (2016) A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia. Am J Med Genet A 170A(5):1370–1372. doi:10.1002/ajmg.a.37557 CrossRefPubMed

31.

Accogli A, Pacetti M, Fiaschi P, Pavanello M, Piatelli G, Nuzzi D, Baldi M, Tassano E, Severino MS, Allegri A, Capra V (2015) Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? Am J Med Genet A 167A(3):646–652. doi:10.1002/ajmg.a.36933 CrossRefPubMed

32.

Andersen PE Jr, Hauge M (1989) Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey. J Med Genet 26(1):37–44CrossRefPubMedPubMedCentral

33.

Steinbok P, Hall J, Flodmark O (1989) Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg 71(1):42–48. doi:10.3171/jns.1989.71.1.0042 CrossRefPubMed

34.

Swift D, Nagy L, Robertson B (2012) Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia. J Neurosurg Pediatr 9(1):73–81. doi:10.3171/2011.10.PEDS1169 CrossRefPubMed

35.

Bagley CA, Pindrik JA, Bookland MJ, Camara-Quintana JQ, Carson BS (2006) Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg 104(3 Suppl):166–172. doi:10.3171/ped.2006.104.3.166 PubMed

36.

Brouwer PA, Lubout CM, van Dijk JM, Vleggeert-Lankamp CL (2012) Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance. Eur Radiol 22(10):2264–2272. doi:10.1007/s00330-012-2488-0 CrossRefPubMedPubMedCentral

37.

Thomas IT, Frias JL, Williams JL, Friedman WA (1988) Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child 142(9):989–992PubMed

Titel: Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia
verfasst von: Rosalinda Calandrelli
Marco Panfili
Gabriella D’Apolito
Giuseppe Zampino
Alessandro Pedicelli
Fabio Pilato
Cesare Colosimo
Publikationsdatum: 17.08.2017
Verlag: Springer Berlin Heidelberg
Erschienen in: Neuroradiology / Ausgabe 10/2017
Print ISSN: 0028-3940
Elektronische ISSN: 1432-1920
DOI: https://doi.org/10.1007/s00234-017-1887-y

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Neurologie

23.04.2024 | Demenz | Nachrichten

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia

Abstract

Purpose

Methods

Results

Conclusion

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Demenzkranke durch Antipsychotika vielfach gefährdet

Parkinson-Therapie im Wandel – aktuelle Leitlinie im Fokus

Auf diese Krankheiten bei Geflüchteten sollten Sie vorbereitet sein

Hustenstiller lindert Agitation bei Alzheimer

Update Neurologie

Springer Medizin

Abstract

Purpose

Methods

Results

Conclusion

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 10/2017

Quantification of myelin in children using multiparametric quantitative MRI: a pilot study

The association between microhaemorrhages and post - traumatic functional outcome in the chronic phase after mild traumatic brain injury

Spontaneous resolution of low-flow spinal arteriovenous fistulas

ᅟ

Response Assessment in Neuro-Oncology criteria, contrast enhancement and perfusion MRI for assessing progression in glioblastoma

Metric to quantify white matter damage on brain magnetic resonance images

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Demenzkranke durch Antipsychotika vielfach gefährdet

Parkinson-Therapie im Wandel – aktuelle Leitlinie im Fokus

Auf diese Krankheiten bei Geflüchteten sollten Sie vorbereitet sein

Hustenstiller lindert Agitation bei Alzheimer

Update Neurologie