Literature DB >> 33579320

Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia.

Youngbo Shim1, Jung Min Ko2, Tae-Joon Cho3,4, Seung-Ki Kim1, Ji Hoon Phi5.   

Abstract

BACKGROUND: Cervical myelopathy and hydrocephalus occasionally occur in young children with achondroplasia. However, these conditions are not evaluated in a timely manner in many cases. The current study presents significant predictors for cervical myelopathy and hydrocephalus in young children with achondroplasia.
METHODS: A retrospective analysis of 65 patients with achondroplasia who visited Seoul National University Children's Hospital since 2012 was performed. The patients were divided into groups according to the presence of cervical myelopathy and hydrocephalus, and differences in foramen magnum parameters and ventricular parameters by magnetic resonance imaging between groups were analyzed. Predictors for cervical myelopathy and hydrocephalus were analyzed, and the cut-off points for significant ones were calculated.
RESULTS: The group with cervical myelopathy showed foramen magnum parameters that indicated significantly lower cord thickness than in the group without cervical myelopathy, and the group with hydrocephalus showed significantly higher ventricular parameters and 'Posterior indentation' grade than the group without hydrocephalus. 'Cord constriction ratio' (OR 5199.90, p = 0.001) for cervical myelopathy and 'Frontal horn width' (OR 1.14, p = 0.001) and 'Posterior indentation' grade (grade 1: OR 9.25, p = 0.06; grade 2: OR 18.50, p = 0.01) for hydrocephalus were significant predictors. The cut-off points for cervical myelopathy were 'Cord constriction ratio' of 0.25 and 'FM AP' of 8 mm (AUC 0.821 and 0.862, respectively) and 'Frontal horn width' of 50 mm and 'Posterior indentation' grade of 0 (AUC 0.788 and 0.758, respectively) for hydrocephalus.
CONCLUSION: 'Cord constriction ratio' for cervical myelopathy and 'Frontal horn width' and 'Posterior indentation' grade for hydrocephalus were significant predictors and may be used as useful parameters for management. 'Posterior indentation' grade may also be used to determine the treatment method for hydrocephalus.

Entities:  

Keywords:  Achondroplasia; Cervical myelopathy; Foramen magnum decompression; Hydrocephalus; Predictor; Ventriculo-peritoneal shunt

Mesh:

Year:  2021        PMID: 33579320      PMCID: PMC7881633          DOI: 10.1186/s13023-021-01725-4

Source DB:  PubMed          Journal:  Orphanet J Rare Dis        ISSN: 1750-1172            Impact factor:   4.123


  25 in total

1.  Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis.

Authors:  Stefania Fornarino; Daniela Paola Rossi; Mariasavina Severino; Angela Pistorio; Anna Elsa Maria Allegri; Simona Martelli; Laura Doria Lamba; Paola Lanteri
Journal:  Dev Med Child Neurol       Date:  2016-09-16       Impact factor: 5.449

Review 2.  Cerebrospinal Fluid Shunting Complications in Children.

Authors:  Brian W Hanak; Robert H Bonow; Carolyn A Harris; Samuel R Browd
Journal:  Pediatr Neurosurg       Date:  2017-03-02       Impact factor: 1.162

3.  Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.

Authors:  Klane K White; Viviana Bompadre; Michael J Goldberg; Michael B Bober; Jeffrey W Campbell; Tae-Joon Cho; Julie Hoover-Fong; William Mackenzie; Shawn E Parnell; Cathleen Raggio; David M Rapoport; Samantha A Spencer; Ravi Savarirayan
Journal:  Am J Med Genet A       Date:  2015-09-23       Impact factor: 2.802

4.  Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.

Authors:  Penelope J Ireland; Sarah Johnson; Samantha Donaghey; Leanne Johnston; Robert S Ware; Andreas Zankl; Verity Pacey; Jenny Ault; Ravi Savarirayan; David Sillence; Elizabeth Thompson; Sharron Townshend; James McGill
Journal:  J Paediatr Child Health       Date:  2011-11-23       Impact factor: 1.954

5.  Hydrocephalus and achondroplasia. A study of 25 observations.

Authors:  A Pierre-Kahn; J F Hirsch; D Renier; J Metzger; P Maroteaux
Journal:  Childs Brain       Date:  1980

6.  Health Supervision for People With Achondroplasia.

Authors:  Julie Hoover-Fong; Charles I Scott; Marilyn C Jones
Journal:  Pediatrics       Date:  2020-06       Impact factor: 7.124

7.  Hydrocephalus in an achondroplastic child treated by venous decompression at the jugular foramen. Case report.

Authors:  T Lundar; S J Bakke; H Nornes
Journal:  J Neurosurg       Date:  1990-07       Impact factor: 5.115

8.  Neurological manifestations of pediatric achondroplasia.

Authors:  H Yamada; S Nakamura; M Tajima; N Kageyama
Journal:  J Neurosurg       Date:  1981-01       Impact factor: 5.115

9.  Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance.

Authors:  Patrick A Brouwer; Charlotte M Lubout; J Marc van Dijk; Carmen L Vleggeert-Lankamp
Journal:  Eur Radiol       Date:  2012-05-26       Impact factor: 5.315

10.  Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family.

Authors:  Jinxia An; Jie Yang; Yan Wang; Yanxia Wang; Baicheng Xu; Guangmei Xie; Sanming Chai; Xiaoling Liu; Sijuan Xu; Xiaoxiao Wen; Qing He; Huijun Liu; Chen Li; Subrata Kumar Dey; Yali Ni; Santasree Banerjee
Journal:  Front Genet       Date:  2019-02-05       Impact factor: 4.599

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  1 in total

1.  A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic.

Authors:  Martin Pesl; Hana Verescakova; Linda Skutkova; Jana Strenkova; Pavel Krejci
Journal:  Orphanet J Rare Dis       Date:  2022-06-16       Impact factor: 4.303

  1 in total

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