Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome

Falls, Cody J; Page, Paul S.; Stadler, James A.

doi:10.7759/cureus.17334

Cited by 4 publications

(9 citation statements)

References 9 publications

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“… 6 It remains the only condition complicated by POCSs beyond infancy. 6 , 20 Surgical management of HCS first dates back to 1977, when a patient with BI was partially decompressed and fused at the age of 8 years via a posterior approach. 4 The patient survived for 12 years without significant neurological impairment, and ultimately died of pneumonia.…”

Section: Discussionmentioning

confidence: 99%

“… 4 , 5 However, literature on the repair of BI complicated by persistent open cranial sutures (POCSs) is limited and is associated with unique challenges. 6 Occipitocervical (OC) fusion in this select group is complicated by the mobile cranium. This can manifest as a spectrum of neurological symptoms, including apneic spells, ataxia, bowel and bladder dysfunction, and lower cranial nerve palsies.…”

mentioning

confidence: 99%

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Cranial vault suspension for basilar invagination in patients with open cranial sutures: technique and long-term follow-up. Illustrative case

Cutler,

Li,

Ruge

2023

Journal of Neurosurgery: Case Lessons

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BACKGROUND Hajdu-Cheney syndrome (HCS) is an extremely rare genetic disorder characterized by severe osteoporosis, scoliosis, and persistent open cranial sutures (POCSs). Neurological complications include hydrocephalus, Chiari I malformations, and basilar invagination (BI). Surgical intervention in HCS is challenging due to severe osteoporosis, ligamentous laxity, POCSs, and extreme skeletal deformities. Herein, the authors present a case of BI repair in a patient with HCS and POCSs, requiring a novel technique of cranial vault suspension, with long-term follow-up. OBSERVATIONS A 20-year-old female with HCS and progressive symptomatic BI, initially managed with posterior fossa decompression and occipital to cervical fusion, subsequently required cranial vault expansion due to symptomatic shifting of her cranium secondary to POCS. This custom construct provided long-term stabilization and neurological improvement over a follow-up duration of 9.5 years. A literature review performed revealed three other cases of surgical intervention for BI in patients with HCS and clinicopathological characteristics of each case was compared to the present illustrative case. LESSONS POCSs in patients with BI complicate traditional surgical approaches, necessitating more invasive techniques to secure all mobile cranial parts for optimal outcomes. Using this cranial vault suspension and fusion technique results in lasting neurological improvement and construct stability.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Cranial vault suspension for basilar invagination in patients with open cranial sutures: technique and long-term follow-up. Illustrative case

Cutler,

Li,

Ruge

2023

Journal of Neurosurgery: Case Lessons

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“…The surgical treatment of high-grade spondylolisthesis associated with these conditions is challenging, with a higher risk of instrumentation failure or pathological fractures adjacent to the instrumentation. 4,5,14 Falls et al reported their experience with the correction of complex cervicothoracic deformity in three patients with HCS, highlighting the distorted craniovertebral anatomy (prominent occiput, persistently open cranial sutures, atypical pedicle anatomy, poor bone quality) and advising an extension of the construct to achieve adequate fixation. 14 The use of bone cement-augmented pedicle screws for transforaminal lumbar interbody fusion has been validated by two independent retrospective studies in patients with nonsyndromic osteoporosis.…”

Section: Discussionmentioning

confidence: 99%

“…4,5,14 Falls et al reported their experience with the correction of complex cervicothoracic deformity in three patients with HCS, highlighting the distorted craniovertebral anatomy (prominent occiput, persistently open cranial sutures, atypical pedicle anatomy, poor bone quality) and advising an extension of the construct to achieve adequate fixation. 14 The use of bone cement-augmented pedicle screws for transforaminal lumbar interbody fusion has been validated by two independent retrospective studies in patients with nonsyndromic osteoporosis. 15,16 PMMA leakage is a rare complication of vertebroplasty through fenestrated pedicle screw.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Surgical management of high-grade lumbar spondylolisthesis associated with Hajdu-Cheney syndrome: illustrative case

Sonfack

Bergeron²,

Wang

et al. 2022

Journal of Neurosurgery: Case Lessons

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BACKGROUND Hajdu-Cheney syndrome (HCS) is a rare connective tissue disorder characterized by severe bone demineralization. In the spine, it is associated with the early onset of severe osteoporosis and can cause spondylolisthesis. Spinal instrumentation in the setting of severe osteoporosis is challenging because of poor resistance of vertebrae to biomechanical stress. OBSERVATIONS A 59-year-old woman with known idiopathic HCS presented with a grade 4 L5-S1 spondylolisthesis and right L5 pedicle fracture associated with a left L5 pars fracture, causing a progressive L5 radiculopathy that was worse on the left side than the right side and bilateral foot drop. The authors performed decompressive lumbar surgery, which included a complete L5 laminectomy and resection of the left L5 pedicle. This was followed by multilevel lumbosacral instrumentation using cement-augmented fenestrated pedicle screws as well as transdiscal sacral screws and bilateral alar-iliac fixation. Postoperatively, the radicular pain resolved, and the left foot drop partially recovered. LESSONS Stabilization of high-grade spondylolisthesis in the setting of bone demineralization disorders is challenging. The use of different instrumentation techniques is important because it increases biomechanical stability of the overall instrumentation construct.

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A Familial Case of Hajdu – Cheney Syndrome: Clinical Observation and Literature Review

Почкайло,

Галашевская,

Водянова

et al. 2023

Педиатрия. Восточная Европа

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Синдром Хайду – Чейни (OMIM: 102500) – редкое генетическое заболевание скелета с аутосомно-доминантным типом наследования, проявляющееся прогрессирующим акроостеолизом фаланг кистей и стоп, генерализованным остеопорозом, характерными черепно-лицевыми аномалиями, низкорослостью и широким спектром других возможных клинических проявлений. В медицинской литературе описано менее 100 случаев этого заболевания. Диагностика синдрома Хайду – Чейни основывается на выявлении характерных клинических и рентгенологических признаков. Наличие положительного семейного анамнеза облегчает диагностику, а молекулярно-генетическое исследование с обнаружением мутаций в гене NOTCH2 подтверждает диагноз. В настоящее время не существует эффективного специфического лечения синдрома Хайду – Чейни. Предлагаемое специалистами лечение является симптоматическим и направлено в основном на коррекцию патологических состояний, манифестирующих по мере прогрессирования заболевания, в первую очередь – остеопороза. В статье представлен краткий обзор литературы по проблеме и описано клиническое наблюдение на протяжении 8-летнего периода ведения семейного случая синдрома Хайду – Чейни у трех членов одной семьи в трех последовательных поколениях. Hajdu – Cheney syndrome (OMIM: 102500) is a rare autosomal dominant skeletal disorder characterized by progressive acroosteolysis of finger and toe phalangeal bones, generalized osteoporosis, characteristic craniofacial anomalies, short stature and a wide range of other possible clinical manifestations. Less than 100 cases of this disease have been described in the medical literature. Diagnosis of Hajdu – Cheney syndrome is based on the identification of characteristic clinical and radiological features. The presence of a positive family history facilitates the diagnosis, and a molecular genetic study with the detection of mutations in the NOTCH2 gene confirms the diagnosis. There is currently no specific treatment for Hajdu – Cheney syndrome. The current treatment is symptomatic and is mainly aimed at correcting pathological conditions that manifest as the disease progresses, foremost osteoporosis. The article presents a brief review of the literature and describes the over an 8-year period of clinical observation of a familial case of Hajdu – Cheney syndrome in three members of the same family in three generations.

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Operative Management of Spinal Deformity Secondary to Hajdu-Cheney Syndrome

Cited by 4 publications

References 9 publications

Cranial vault suspension for basilar invagination in patients with open cranial sutures: technique and long-term follow-up. Illustrative case

Cranial vault suspension for basilar invagination in patients with open cranial sutures: technique and long-term follow-up. Illustrative case

Surgical management of high-grade lumbar spondylolisthesis associated with Hajdu-Cheney syndrome: illustrative case

A Familial Case of Hajdu – Cheney Syndrome: Clinical Observation and Literature Review

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