Cranio-cervical junction malformation causing cord compression in infant with achondroplasia: a bigger picture

Caratella, S.; Tarazi, Munir; Tomalieh, Feras; Spink, George; Bukhari, Shafqat; Ahmad, Ibtihaj; Hussain, Muhammad Masood

doi:10.1080/02688697.2019.1698009

Cited by 3 publications

(3 citation statements)

References 2 publications

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“…Achondroplasia is the most common hereditary skeletal dysplasia and is characterized by disproportionately short stature with rhizomelic short extremities [1]. The skull features include a narrowed foramen magnum, short skull base, and clivus [2].…”

Section: Clinical Imagementioning

confidence: 99%

“…Foramen magnum stenosis is a characteristic funding, secondary to an abnormal placement and premature fusion of the posterior synchondroses [1]. The second factor responsible for stenosis is a defect in endochondral ossification in the basiocciput that may result in an extension of the squamous occipital bone [2]. It can cause hydrocephalus and prominent emissary and meningeal veins (Figure 1).…”

Section: Clinical Imagementioning

confidence: 99%

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Foramen Magnum Stenosis in Achondroplasia

Choayb¹,

Adil²,

S³

2021

austinjradiol

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Achondroplasia is the most common hereditary skeletal dysplasia and is characterized by disproportionately short stature with rhizomelic short extremities [1]. The skull features include a narrowed foramen magnum, short skull base, and clivus [2]. Foramen magnum stenosis is a characteristic funding, secondary to an abnormal placement and premature fusion of the posterior synchondroses [1]. The second factor responsible for stenosis is a defect in endochondral ossification in the basiocciput that may result in an extension of the squamous occipital bone [2]. It can cause hydrocephalus and prominent emissary and meningeal veins (Figure 1). Figure 1: Sagittal T1WI revealing a narrowed stenosis of the foramen magnum and compression of the cervicomedullary junction. The most severe complication is the compression of the cervicomedullary junction, associated with severe morbidity and sudden death in younger children [1].

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Section: Clinical Imagementioning

confidence: 99%

Section: Clinical Imagementioning

confidence: 99%

Foramen Magnum Stenosis in Achondroplasia

Choayb¹,

Adil²,

S³

2021

austinjradiol

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“…Clinical surveillance and application of foramen magnum decompression (FMD) is the solution to this problem [1,5,[11][12][13]. The other serious trouble is the development of hydrocephalus [14].…”

Section: Introductionmentioning

confidence: 99%

Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures

Lee

Shim

Cho

et al. 2023

Preprint

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Background Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression at the narrowed foramen magnum and hydrocephalus. This study aims to construct growth references for height, weight, and head circumference (HC) of young achondroplasia patients in Korea and to evaluate the predictability of the necessity and timing of neurosurgical procedures through growth patterns.Methods Growth data were collected from achondroplasia patients who visited our institution between January 2002 and August 2022. First, we constructed percentile growth curves of height, weight, and HC for the patients under 3 years of age with the generalized additive model for location, scale, and shape (GAMLSS). Second, the growth patterns of the patients with hydrocephalus who underwent neurosurgical procedures such as foramen magnum decompression (FMD) and ventriculoperitoneal (VP) shunt were analyzed.Results There were 125 achondroplasia patients, including 67 males and 58 females. Among 125 patients, 46 underwent FMD, and 5 underwent VP shunt. As short stature and macrocephaly were typical characteristics of achondroplasia, the height of achondroplasia was lower than that of the general population, and HC in achondroplasia showed accelerated growth postnatally. There were no significant changes in HC in hydrocephalus patients before they underwent neurosurgical procedures. The influence of hydrocephalus on the growth patterns of HC in achondroplasia seemed insignificant.Conclusion Growth references for height, weight, and HC in young achondroplasia patients were constructed. It is the first report of growth patterns of achondroplasia in Korea. Unlike other pediatric patients, the diagnosis of hydrocephalus and the necessity of neurosurgical procedures are hard to be predicted with HC in achondroplasia. Neuroimaging should be considered for achondroplasia patients with neurological symptoms.

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Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures

Lee,

Shim,

Cho

et al. 2023

Orphanet J Rare Dis

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Background Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression at the narrowed foramen magnum and hydrocephalus. This study aims to construct growth references for height, weight, and head circumference (HC) of young achondroplasia patients in Korea and to evaluate the predictability of the necessity and timing of neurosurgical procedures through growth patterns. Methods Growth data were collected from achondroplasia patients who visited our institution between January 2002 and August 2022. First, we constructed percentile growth curves of height, weight, and HC for the patients under 3 years of age with the generalized additive model for location, scale, and shape (GAMLSS). Second, the growth patterns of the patients with hydrocephalus who underwent neurosurgical procedures such as foramen magnum decompression (FMD) and ventriculoperitoneal (VP) shunt were analyzed. Results There were 125 achondroplasia patients, including 67 males and 58 females. Among 125 patients, 46 underwent FMD, and 5 underwent VP shunt. As short stature and macrocephaly were typical characteristics of achondroplasia, the height of achondroplasia was lower than that of the general population, and HC in achondroplasia showed accelerated growth postnatally. There were no significant changes in HC in hydrocephalus patients before they underwent neurosurgical procedures. The influence of hydrocephalus on the growth patterns of HC in achondroplasia seemed insignificant. Conclusion Growth references for height, weight, and HC in young achondroplasia patients were constructed. It is the first report of growth patterns of achondroplasia in Korea. Unlike other pediatric patients, the diagnosis of hydrocephalus and the necessity of neurosurgical procedures are hard to be predicted with HC in achondroplasia. Neuroimaging should be considered for achondroplasia patients with neurological symptoms.

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Cranio-cervical junction malformation causing cord compression in infant with achondroplasia: a bigger picture

Cited by 3 publications

References 2 publications

Foramen Magnum Stenosis in Achondroplasia

Foramen Magnum Stenosis in Achondroplasia

Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures

Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures

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