Scoliosis in Dandy-Walker syndrome: a case report and review of literature

Menon, K. Venugopal; Sorur, Tamer M M; Ghafri, Khalifa Al; Shahin, Marwan

doi:10.21037/jss.2017.10.03

Cited by 3 publications

(7 citation statements)

References 9 publications

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“…Our patient developed a right thoracic scoliosis without intraspinal anomalies, which resembles an adolescent idiopathic scoliotic deformity similar to the patient presented by Menon et al [ 5 ]. However, she had normal thoracic kyphosis, which is different from typical adolescent idiopathic thoracic scoliosis as this is mainly associated with thoracic hypokyphosis or lordosis due to the axial/rotatory component of the deformity across the apical segments.…”

Section: Discussionsupporting

confidence: 83%

“…Patients with DWS have a number of brain anomalies such as hydrocephalus (70-90%), occipital encephalocele (16%), and partial or complete agenesis of corpus callosum (30%). A number of extracranial anomalies are associated with DWS affecting primarily the cardiac (54%) and with lesser frequency the gastrointestinal, craniofacial, and musculoskeletal systems [ 5 , 10 ]. Our patient had a PDA and underwent surgical closure in early child life.…”

Section: Discussionmentioning

confidence: 99%

“…There are a number of craniofacial dysmorphic changes including strabismus, hypertelorism, slant of palpebral fissures, globular nose, cleft palate, poorly lobulated ears, large mouth with downturning corners, and high arched palate. Musculoskeletal abnormalities including small hands and feet, clinodactyly, and brachymesophalangy of the little fingers are often present [ 5 ]. Clinical examination can identify features indicative of raised intracranial pressure with children often having a bulging occiput and macrocephaly [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

“…The development of scoliosis in patients with DWS is a relatively unknown phenomenon with only one previous report in the literature [ 5 ]. Our patient presented with a right thoracic scoliosis, which was noted in early adolescence and was progressing at a stage of rapid pubertal growth.…”

Section: Discussionmentioning

confidence: 99%

“…We describe the patient's preoperative presentation and postoperative outcome through to skeletal maturity, 4 years after surgery. We are aware of only one other report describing the association of spinal deformity and DWS [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

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Dandy-Walker Syndrome Associated with Scoliosis: Clinical Presentation, Preoperative Assessment, and Treatment

Wordie

2020

Case Reports in Orthopedics

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Dandy-Walker syndrome (DWS) affects the posterior cranial fossa resulting in characteristic dysmorphic facial and body features. Scoliosis is not typically reported as an extracranial manifestation of this condition. We present a 12-year-old female patient who developed a right thoracic scoliosis measuring 60° with increased lumbar lordosis. Scoliosis correction was indicated to alleviate back pain, improve cosmesis, and prevent respiratory complications. A multidisciplinary preoperative assessment included cardiac, respiratory, anaesthetic, and neurology reviews. She underwent a posterior spinal fusion from T2 to L3 with pedicle hook/screw and rod instrumentation and a combination of locally harvested autologous and allograft bone. This resulted in excellent deformity correction and a balanced spine in the coronal and sagittal planes. The patient made an uneventful recovery and returned gradually to her normal level of activities. She was monitored in clinic until she completed her growth (4 years after surgery); the satisfactory surgical outcome was maintained at follow-up and was associated with high patient satisfaction. Scoliosis can occur in children with DWS with resemblance to adolescent idiopathic scoliosis in regard to type of coronal deformity, age at presentation, surgical techniques, and postoperative recovery. Early identification of scoliosis in patients with DWS can allow preoperative planning and prompt surgical management in order to reduce the risk of significant morbidity which can occur if the scoliosis is allowed to deteriorate. Excellent deformity correction can be achieved and maintained beyond skeletal maturity in order to improve physical appearance, as well as preserve level of function and quality of life.

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Section: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Dandy-Walker Syndrome Associated with Scoliosis: Clinical Presentation, Preoperative Assessment, and Treatment

Wordie

2020

Case Reports in Orthopedics

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The Central Nervous System

2022

Veterinary Head and Neck Imaging

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What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

Rosenberg

Pater

Pellikaan

et al. 2021

JCM

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Patients with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Pediatric multidisciplinary (MD) care has improved life expectancy, however, transfer to internal medicine is hindered by the lack of adequate MD care for adults. We have launched an MD outpatient clinic providing syndrome-specific care for adults with CRGS, which, to our knowledge, is the first one worldwide in the field of internal medicine. Between 2015 and 2020, we have treated 720 adults with over 60 syndromes. Eighty-nine percent of the syndromes were associated with endocrine problems. We describe case series of missed diagnoses and patients who had undergone extensive diagnostic testing for symptoms that could actually be explained by their syndrome. Based on our experiences and review of the literature, we provide an algorithm for the clinical approach of health problems in CRGS adults. We conclude that missed diagnoses and needless invasive tests seem common in CRGS adults. Due to the increased life expectancy, an increasing number of patients with CRGS will transfer to adult endocrinology. Internist-endocrinologists (in training) should be aware of their special needs and medical pitfalls of CRGS will help prevent the burden of unnecessary diagnostics and under- and overtreatment.

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Scoliosis in Dandy-Walker syndrome: a case report and review of literature

Cited by 3 publications

References 9 publications

Dandy-Walker Syndrome Associated with Scoliosis: Clinical Presentation, Preoperative Assessment, and Treatment

Dandy-Walker Syndrome Associated with Scoliosis: Clinical Presentation, Preoperative Assessment, and Treatment

The Central Nervous System

What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

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