Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol

View More View Less
  • 1 Departments of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, and
  • | 2 Neurosurgery, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam;
  • | 3 Department of Radiology, University Medical Center–Wilhelmina Children’s Hospital, Utrecht; and
  • | 4 Departments of Radiology;
  • | 5 Ophthalmology;
  • | 6 Otorhinolaryngology; and
  • | 7 Oral and Maxillofacial Surgery, Special Dental Care and Orthodontics; and
  • | 8 Pediatric Intensive Care Unit, Erasmus MC–Sophia Children’s Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands
Restricted access

Purchase Now

USD  $45.00

JNS + Pediatrics - 1 year subscription bundle (Individuals Only)

USD  $505.00

JNS + Pediatrics + Spine - 1 year subscription bundle (Individuals Only)

USD  $600.00
Print or Print + Online

OBJECTIVE

The authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.

METHODS

This was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.

RESULTS

The study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.

CONCLUSIONS

Patients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

ABBREVIATIONS

D = diopters; FOA = fronto-supraorbital advancement; FOHR = frontal occipital horn ratio; ICH = intracranial hypertension; ICP = intracranial pressure; OAE = otoacoustic emission; oAHI = obstructive apnea–hypopnea index; OCT = optical coherence tomography; OE = occipital expansion; OFC = occipital frontal head circumference; OSA = obstructive sleep apnea; TH = tonsillar herniation; TRT = total retinal thickness.

JNS + Pediatrics - 1 year subscription bundle (Individuals Only)

USD  $505.00

JNS + Pediatrics + Spine - 1 year subscription bundle (Individuals Only)

USD  $600.00

Contributor Notes

Correspondence Bianca K. den Ottelander: Dutch Craniofacial Center, Sophia Children’s Hospital–Erasmus University Medical Center, Rotterdam, the Netherlands. b.denottelander@erasmusmc.nl.

INCLUDE WHEN CITING Published online July 19, 2019; DOI: 10.3171/2019.5.PEDS1969.

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

  • 1

    Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, et al. : Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174176, 1996

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 2

    Bess FH, Dodd-Murphy J, Parker RA: Children with minimal sensorineural hearing loss: prevalence, educational performance, and functional status. Ear Hear 19:339354, 1998

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 3

    Brodsky MC: Pediatric Neuro-Ophthalmology. New York: Springer, 2016

  • 4

    Cinalli G, Spennato P, Sainte-Rose C, Arnaud E, Aliberti F, Brunelle F, et al. : Chiari malformation in craniosynostosis. Childs Nerv Syst 21:889901, 2005

  • 5

    Cornelissen M, Ottelander Bd, Rizopoulos D, van der Hulst R, Mink van der Molen A, van der Horst C, et al. : Increase of prevalence of craniosynostosis. J Craniomaxillofac Surg 44:12731279, 2016

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 6

    Currie K, Sawchuk D, Saltaji H, Oh H, Flores-Mir C, Lagravere M: Posterior cranial base natural growth and development: a systematic review. Angle Orthod 87:897910, 2017

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 7

    de Jong T, Bannink N, Bredero-Boelhouwer HH, van Veelen ML, Bartels MC, Hoeve LJ, et al. : Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. J Plast Reconstr Aesthet Surg 63:16351641, 2010

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 8

    de Jong T, Rijken BF, Lequin MH, van Veelen ML, Mathijssen IM: Brain and ventricular volume in patients with syndromic and complex craniosynostosis. Childs Nerv Syst 28:137140, 2012

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 9

    de Jong T, Toll MS, de Gier HH, Mathijssen IM: Audiological profile of children and young adults with syndromic and complex craniosynostosis. Arch Otolaryngol Head Neck Surg 137:775778, 2011

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 10

    Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, et al. : Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A 143A:32043215, 2007

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 11

    Dufton JA, Habeeb SY, Heran MK, Mikulis DJ, Islam O: Posterior fossa measurements in patients with and without Chiari I malformation. Can J Neurol Sci 38:452455, 2011

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 12

    Florisson JM, Barmpalios G, Lequin M, van Veelen ML, Bannink N, Hayward RD, et al. : Venous hypertension in syndromic and complex craniosynostosis: the abnormal anatomy of the jugular foramen and collaterals. J Craniomaxillofac Surg 43:312318, 2015

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 13

    Johnson D, Wilkie AO: Craniosynostosis. Eur J Hum Genet 19:369376, 2011

  • 14

    Kress W, Schropp C, Lieb G, Petersen B, Büsse-Ratzka M, Kunz J, et al. : Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet 14:3948, 2006

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 15

    Kruszka P, Addissie YA, Agochukwu NB, Doherty ES, Muenke M: Muenke syndrome, in Adam MP, Ardinger HH, Pagon RA, et al. (eds): GeneReviews [Internet]. Seattle: University of Washington, 19932019 (https://www.ncbi.nlm.nih.gov/books/NBK1415/) [Accessed May 30, 2019]

    • Search Google Scholar
    • Export Citation
  • 16

    Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, et al. : Muenke syndrome: an international multicenter natural history study. Am J Med Genet A 170A:918929, 2016

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 17

    Maliepaard M, Mathijssen IM, Oosterlaan J, Okkerse JM: Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis. Pediatrics 133:e1608e1615, 2014

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 18

    Marucci DD, Dunaway DJ, Jones BM, Hayward RD: Raised intracranial pressure in Apert syndrome. Plast Reconstr Surg 122:11621170, 2008

  • 19

    McGrath J, Gerety PA, Derderian CA, Steinbacher DM, Vossough A, Bartlett SP, et al. : Differential closure of the spheno-occipital synchondrosis in syndromic craniosynostosis. Plast Reconstr Surg 130:681e689e, 2012

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 20

    Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, et al. : Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 349:10591062, 1997

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 21

    Morgan IG, Rose KA, Ellwein LB: Is emmetropia the natural endpoint for human refractive development? An analysis of population-based data from the refractive error study in children (RESC). Acta Ophthalmol 88:877884, 2010

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 22

    Nishikawa H, Evans M, Rodrigues D, Solanki G, White N, Dover S: Posterior calvarial distraction. A review of six years experience at the Birmingham Children’s Hospital. J Plast Reconstr Aesthet Surg 67:1605, 2014

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 23

    Polling JR, Loudon SE, Klaver CC: Prevalence of amblyopia and refractive errors in an unscreened population of children. Optom Vis Sci 89:e44e49, 2012

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 24

    Renier D, Lajeunie E, Arnaud E, Marchac D: Management of craniosynostoses. Childs Nerv Syst 16:645658, 2000

  • 25

    Rijken BF, den Ottelander BK, van Veelen ML, Lequin MH, Mathijssen IM: The occipitofrontal circumference: reliable prediction of the intracranial volume in children with syndromic and complex craniosynostosis. Neurosurg Focus 38(5):E9, 2015

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 26

    Rijken BF, Lequin MH, van der Lijn F, van Veelen-Vincent ML, de Rooi J, Hoogendam YY, et al. : The role of the posterior fossa in developing Chiari I malformation in children with craniosynostosis syndromes. J Craniomaxillofac Surg 43:813819, 2015

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 27

    Rijken BF, Lequin MH, Van Veelen ML, de Rooi J, Mathijssen IM: The formation of the foramen magnum and its role in developing ventriculomegaly and Chiari I malformation in children with craniosynostosis syndromes. J Craniomaxillofac Surg 43:10421048, 2015

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 28

    Smith BW, Strahle J, Bapuraj JR, Muraszko KM, Garton HJ, Maher CO: Distribution of cerebellar tonsil position: implications for understanding Chiari malformation. J Neurosurg 119:812819, 2013

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 29

    Spruijt B, Joosten KF, Driessen C, Rizopoulos D, Naus NC, van der Schroeff MP, et al. : Algorithm for the management of intracranial hypertension in children with syndromic craniosynostosis. Plast Reconstr Surg 136:331340, 2015

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 30

    Spruijt B, Mathijssen IM, Bredero-Boelhouwer HH, Cherian PJ, Corel LJ, van Veelen ML, et al. : Sleep architecture linked to airway obstruction and intracranial hypertension in children with syndromic craniosynostosis. Plast Reconstr Surg 138:1019e1029e, 2016

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 31

    Spruijt B, Rijken BF, den Ottelander BK, Joosten KF, Lequin MH, Loudon SE, et al. : First vault expansion in Apert and Crouzon-Pfeiffer syndromes: front or back? Plast Reconstr Surg 137:112e121e, 2016

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 32

    Tamburrini G, Caldarelli M, Massimi L, Santini P, Di Rocco C: Intracranial pressure monitoring in children with single suture and complex craniosynostosis: a review. Childs Nerv Syst 21:913921, 2005

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 33

    Thomas GP, Wilkie AO, Richards PG, Wall SA: FGFR3 P250R mutation increases the risk of reoperation in apparent ‘nonsyndromic’ coronal craniosynostosis. J Craniofac Surg 16:347354, 2005

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 34

    Wenner Y, Brauer V, Kunze K, Besgen V, Kuhli-Hattenbach C, Bertelmann T, et al. : Comparison of optic disc parameters in hyperopic and emmetropic eyes of healthy children with HRT and OCT. Klin Monbl Augenheilkd 235:11291137, 2017

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 35

    Wright KW, Spiegel PH, Thompson L (eds): Handbook of Pediatric Strabismus and Amblyopia. New York: Springer, 2006

  • 36

    Yanoff M, Duker JS: Ophthalmology, ed 5. Philadelphia: Elsevier, 2018

Metrics

All Time Past Year Past 30 Days
Abstract Views 1486 525 37
Full Text Views 228 72 4
PDF Downloads 184 39 3
EPUB Downloads 0 0 0