Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review

Shoda, Kenji; Ohe, Naoyuki; Sasai, Hideo; Miyai, Masafumi; Ohnishi, Hiroyuki; Iwama, Toru

doi:10.1007/s00381-021-05129-4

Cited by 3 publications

(9 citation statements)

References 17 publications

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“…There have been several works of literature that ETV was effective in treating achondroplasia patients with hydrocephalus [7,14,25,26]. To our knowledge, it has been reported that 19 achondroplasia patients with hydrocephalus were treated with ETV.…”

Section: Etv As a Treatment For Patients With Hydrocephalusmentioning

confidence: 99%

“…The advantage of ETV is that there is no mechanical failure or infection of the device, as in the VP shunt. Furthermore, the malfunction rate of VP shunt is high in achondroplasia patients (48% in children at 5 years), and the recurrence rate of hydrocephalus after ETV is low in reported cases (the success rate at 6 months after surgery was reported to be 75.9%) [7,14]. However, the steep angle of the third ventricular oor in achondroplasia patients often hinders a safe ETV procedure.…”

Section: Etv As a Treatment For Patients With Hydrocephalusmentioning

confidence: 99%

“…VP shunt was performed if initial FMD did not reverse the progressive ventriculomegaly and associated symptoms or if there was no craniovertebral stenosis necessitating FMD. Endoscopic third ventriculostomy (ETV) was recently considered a treatment option for some patients requiring VP shunt [7,14,25,26].…”

Section: Study Design and Populationmentioning

confidence: 99%

“…It is an autosomal dominant disorder caused by an activating mutation of broblast growth factor receptor type 3 (FGFR 3) [2][3][4][5]. The incidence of achondroplasia is one of 25,000-30,000 live births, which makes it a rare disease [1,2,[5][6][7]. From a neurosurgical viewpoint, achondroplasia patients possess several risks for neurological deterioration [5,[8][9][10].…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Etv As a Treatment For Patients With Hydrocephalusmentioning

confidence: 99%

Section: Etv As a Treatment For Patients With Hydrocephalusmentioning

confidence: 99%

Section: Study Design and Populationmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Lee

Shim

Cho

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…It is an autosomal dominant disorder caused by an activating mutation of fibroblast growth factor receptor type 3 (FGFR 3) [ 2 – 5 ]. The incidence of achondroplasia is one of 25,000–30,000 live births, which makes it a rare disease [ 1 , 2 , 5 – 7 ]. From a neurosurgical viewpoint, achondroplasia patients possess several risks for neurological deterioration [ 5 , 8 – 10 ].…”

Section: Introductionmentioning

confidence: 99%

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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Hydrocephalus in achondroplasia: efficacy of endoscopic third ventriculostomy

Kim

Patel

Ahmadieh

et al. 2022

Journal of Neurosurgery: Pediatrics

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OBJECTIVE Ventriculoperitoneal shunts (VPSs) for hydrocephalus in patients with achondroplasia are known to have a higher failure rate than in other hydrocephalus populations. However, the etiology of hydrocephalus in this group is considered “communicating,” and, therefore, potentially not amenable to endoscopic third ventriculostomy (ETV). ETV has, nonetheless, been reported to be successful in a small number of patients with achondroplasia. The authors aimed to investigate the long-term results of ETV in this population. METHODS Patients with achondroplasia who had undergone surgical treatment for hydrocephalus (ETV or VPS placement) were identified. In patients who had undergone ETV, medical records and neuroimages were reviewed to determine ventricular volumes and frontal and occipital horn ratios (FOHRs) pre- and postoperatively, as well as the incidence of surgical complications and reoperation. Patients who underwent VPS placement were included for historical comparison, and their medical records were reviewed for basic demographic information as well as the incidence of surgical complications and reoperation. RESULTS Of 114 pediatric patients with achondroplasia referred for neurosurgical consultation, 19 (17%) were treated for hydrocephalus; 10 patients underwent ETV only, 7 patients underwent VPS placement only, and 2 patients had a VPS placed followed by ETV. In patients treated with ETV, ventricular volume and FOHRs were normal, if measured at birth, and increased significantly until the time of the ETV. After ETV, all patients demonstrated significant and sustained decreases in ventricular measurements with surveillance up to 15 years. There was a statistically significant difference in rates of repeat CSF surgery between the ETV and VPS cohorts (0/12 vs 7/9, p < 0.001). CONCLUSIONS ETV was efficacious, safe, and durable in the treatment of hydrocephalus in patients with achondroplasia. Although many studies have indicated that hydrocephalus in these patients is “communicating,” a subset may develop an “obstructive” component that is progressive and responsive to ETV.

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Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review

Cited by 3 publications

References 17 publications

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

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

Hydrocephalus in achondroplasia: efficacy of endoscopic third ventriculostomy

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