Cervicomedullary decompression for foramen magnum stenosis in achondroplasia

Bagley, Carlos A.; Pindrik, Jonathan; Bookland, Markus J.; Camara-Quintana, Joaquin; Carson, Benjamin S.

doi:10.3171/ped.2006.104.3.166

Cited by 64 publications

(72 citation statements)

References 20 publications

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“…Bu hastalıkta hipotoni, hidrosefalinin eşlik ettiği veya etmediği makrokrania, psikomotor gelişme geriliği, apne, uyku bozuklukları, kompresif spinal sendromlar ve foramen magnum stenozu gibi nörolojik belirtiler hastaların %35-47'sinde görülebilir (2). Solunumsal bozukluklar, akondroplazik hastaların %85'inde görülmektedir ve çoğu solunum merkezinin kompresyonuna, obstrüktif uyku apnesine, küçük ve az gelişmiş paranasal sinüslere, küçük torasik alana ve ciddi hipotoniye bağlıdır.…”

Section: Discussionunclassified

“…Solunumsal bozukluklar, akondroplazik hastaların %85'inde görülmektedir ve çoğu solunum merkezinin kompresyonuna, obstrüktif uyku apnesine, küçük ve az gelişmiş paranasal sinüslere, küçük torasik alana ve ciddi hipotoniye bağlıdır. Akondroplazik çocuklarda en sık görülen solunumsal bozukluk obstrüktif uyku apnesidir (2). İlk kez akondroplazide OUAS 1983´te tanımlanmıştır (2,3,8,9).…”

Section: Discussionunclassified

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Sleep Respiratuar Disorder in A Child with Congenital Bone Dysplasias: A Case of Report

Kısabay¹,

Oğuz²,

Oktan³

et al. 2016

Respir Case Rep

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Akondroplazi; otozomal dominant geçiş gösteren, servikomedüller kompresyon, spinal kord enfarktları, sinir kök kompresyonları ve uykuda solunum bozuklukları gibi birçok nörolojik semptomun görüldüğü, konjenital kemik displazilerinin en sık görülen formudur. On iki yaşında akondroplazi tanısı alan olgu, horlama, uykuda nefes durması ve uykululuk hali yakınmalarıyla başvurdu. Polisomnografi tetkikinde ağır obstrüktif uyku apne sendromu saptanması üze-rine iki seviyeli pozitif hava yolu basıncı desteği ile titrasyona alındı ve apne-hipopne indeksi geriledi. Hasta pozisyon ve iki seviyeli pozitif hava yolu basıncı desteği tedavisi ile taburcu edildi.Akondroplazi, otozomal dominant geçiş gösteren iskelet displazilerinden biridir. Dördüncü kromozom (4p16.3) üzerinde yer alan fibroblast büyüme faktörü reseptörü 3 (FBFR3) genindeki bozukluk akondroplaziye neden olur. Sorun kıkırdaktan kemik dokusunun gelişimindedir (1-3). Cüceliğin en yaygın sebeplerinden biri olan akondroplazinin görülme sıklığı canlı doğumlarda 1/25000 ile 1,5/10000 arasında değişmektedir (4). Uyku sırasında horlama, parsiyel obstrüksiyon, santral apne ve tam obstrüktif apne gibi solunum problemlerine rastlanır (5). Obstrüktif apneler hipoplazik yüz ve nazofaringeal boşluktaki azalma Achondroplasia is the most common form of congenital bone dysplasia, which is inherited, autosomal dominantly and characterized by cervicomedullary compression, infarction of the spinal cord, nerve root compression, and respiratory disorders during sleep. A 12-year-old patient with a diagnosis of achondroplasia was presented with complaints of snoring, sleep apnea, and lethargy. Upon finding severe obstructive sleep-apnea syndrome with polysomnography, the patient received titration with the support of two-level positive airway pressure and apneahypopnea index regressed. The patient was discharged with position and support from two-level positive airway pressure.

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Section: Discussionunclassified

Sleep Respiratuar Disorder in A Child with Congenital Bone Dysplasias: A Case of Report

Kısabay¹,

Oğuz²,

Oktan³

et al. 2016

Respir Case Rep

View full text Add to dashboard Cite

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“…2,8,10,19,21 Unfortunately, there continues to be controversy over the degree of risk for sudden death in children with achondroplasia, how often to operate, the indications for decompression, and surgical methods that should be used. Criteria for decompression in large surgical series 17 have not provided a fail-safe method for prospectively identifying patients who are likely to die or experience severe neurological complications without surgical decompression.…”

Section: Discussionmentioning

confidence: 99%

“…2,3,10,19,20 We previously identified 4 infants and children with achondroplasia who developed symptoms of cervicomedullary compression with their necks in flexed position. In 3 of these children, we demonstrated significantly diminished or blocked CSF flow anterior to the spinal cord with the neck in flexed position.…”

mentioning

confidence: 99%

“…10,13 Compression at the foramen magnum can result in cervical myelopathy manifested as clonus and hyperreflexia, hypotonia, sleep apnea, and even sudden death. 2,3,8,10,17 Due to the potentially lethal complications associated with symptomatic disease, neurosurgical decompression has been used to widen the foramen magnum and relieve the pressure on the emerging cervical cord. Fortunately, most children with achondroplasia do Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series Object.…”

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confidence: 99%

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Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series

Mukherjee

Pressman

Krakow

et al. 2014

PED

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Object Achondroplasia may be associated with compression at the cervicomedullary junction. Determining which patients are at greatest risk for neurological complications of cervicomedullary compression can be difficult. In the current study the authors reviewed their records to determine the incidence and clinical significance of dynamic cervicomedullary stenosis and obstruction of CSF flow along with surgical outcomes following posterior fossa decompression. Methods The authors reviewed 34 consecutive cases involving symptomatic children with achondroplasia undergoing cervicomedullary decompression performed by a single surgeon over 11 years. Of these patients, 29 had undergone preoperative dynamic MRI of the cervicomedullary junction with cine (cinema) CSF flow studies; 13 of these patients underwent postoperative dynamic MRI studies. Clinical outcomes included changes in polysomnography, head circumference percentile, and fontanel characteristics. Radiographic outcomes included changes in dynamic spinal cord diameter, improvement in CSF flow at the foramen magnum, and change in the Evans ratio. Results Patients were predominantly female, with a mean age at presentation of 6.6 years and mean follow-up of 3.7 years (range 1–10 years). All patients had moderate to excellent improvement in postoperative polysomnography, slight decrease in average head circumference percentile (from 46.9th percentile to 45.7th percentile), and no subjective worsening of fontanel characteristics. The Evans ratio decreased by 2%, spinal cord diameter increased an average of 3.1 mm, 5.2 mm, and 0.2 mm in the neutral, flexed, and extended positions, respectively, and CSF flow improved qualitatively in all 3 positions. There were no postoperative infections, CSF leaks, or other major complications. None of the patients undergoing initial foramen magnum decompression performed at our medical center required reoperation. Conclusions Patients with achondroplasia and symptomatic cervicomedullary compression have increased risk of dynamic stenosis at the foramen magnum evident upon dynamic cine MRI. Operative decompression may be offered with low risk of complications or need for reoperation.

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Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis

Kashanian

Chan

Mukherjee

et al. 2020

American J of Med Genetics Pt A

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The role of cervicomedullary decompression (CMD) in the care of hydrocephalic achondroplastic children who present with simultaneous foramen magnum stenosis is not well understood. We sought to determine the percentage of symptomatic achondroplastic children with foramen magnum stenosis who had stabilization or improvement in ventriculomegaly following CMD. The authors retrospectively reviewed the records of pediatric patients at Cedars‐Sinai Medical Center with achondroplasia and signs of progressive ventriculomegaly who underwent CMD for symptomatic foramen magnum stenosis between the years 2000 and 2018. Clinical outcomes included changes in fontanelle characteristics, head circumference (HC) percentile, and incidence of ventriculoperitoneal (VP) shunting. Radiographic outcomes measured included changes in Evans ratio. We excluded individuals who were shunted before CMD from our study. Sixteen children presented with symptomatic foramen magnum stenosis and full anterior fontanelle or jump in the HC percentiles. Two children underwent placement of a VP shunt before decompressive surgery and were excluded from further analysis. Of the remaining 14 children who underwent CMD, 13 (93%) showed softening or flattening of their fontanelles post‐operatively. Ten of these 14 children had both pre‐ and post‐operative HC percentile records available, with 8 showing increasing HC percentiles before surgery. Seven of those eight children (88%) showed a deceleration or stabilization of HC growth velocity following decompression of the foramen magnum. Among 10 children with available pre‐ and post‐operative brain imaging, ventricular size improved in 5 (50%), stabilized in 2 (20%), and slightly increased in 3 (30%) children after decompression. Two children (14%) required a shunt despite decompression of the foramen magnum. A significant proportion of children with concomitant signs of raised intracranial pressure or findings of progressive ventriculomegaly and foramen magnum stenosis may have improvement or stabilization of these findings following CMD. CMD may decrease the need for VP shunting and its associated complications in the select group of hydrocephalic children with achondroplasia presenting with symptomatic foramen magnum stenosis.

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Cervicomedullary decompression for foramen magnum stenosis in achondroplasia

Abstract: In this review the authors demonstrate that decompression of the cervicomedullary junction in the setting of achondroplasia may be accomplished safely with significant clinical benefit and minimal morbidity.

Cited by 64 publications

References 20 publications

Sleep Respiratuar Disorder in A Child with Congenital Bone Dysplasias: A Case of Report

Sleep Respiratuar Disorder in A Child with Congenital Bone Dysplasias: A Case of Report

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series

Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis

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