PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome

Infante, J.R.; García, Luis Ruiz; Rayo, J.I.; Serrano, J.; Domínguez, M.L.; Moreno, M.

doi:10.1097/rlu.0000000000000871

Cited by 7 publications

(4 citation statements)

References 8 publications

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“…19 Multiple types of neoplasms and neurocutaneous disorders have also been observed in variable frequencies. 20,21 In addition, other genetic syndromes 22 and chromosomal anomalies, such as 3q Syndrome (the location of the DWS-affected genes, known as ZIC1 and ZIC4) 1,23 and trisomy 18, 24 may coexist. However, despite many observations, the sporadic nature of the disease and the expectation that it is now relatively well understood in Europe and North America have impeded research in large case series to explore clinically significant comorbidities, and most of the above observations are derived from low-evidence case reports.…”

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confidence: 99%

The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports

et al. 2017

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Stambolliu, E.; Ioakeim-Ioannidou, M.; Kontokostas, K.; Dakoutrou, M.; Kousoulis, A.A. (2017) This review aimed at reporting its main non-neurological comorbidities. METHODS: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword dandywalker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS: Diagnosis was most often set in <1y.o. (40.6%) or >12y.o. (27.8%). One-third of cases had a chromosomal abnormality or syndrome (N=8 PHACE), 27% had a cardiovascular condition (N=7 Patent Ductus Arteriosus), 24% had a disease of eye and ear (N=9 cataract); most common malignancy was nephroblastoma (N=8, all Asian). Almost one-fifth had a mental illness diagnosis; only 6.4% had mild or severe intellectual disability. CONCLUSION: The spread of comorbidities calls for early diagnosis and multidisciplinary research and practice, especially as many cases remain clinically asymptomatic for years.

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confidence: 99%

The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports

et al. 2017

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“…A literature search using the keywords “dandy-walker malformation,” “dandy-walker syndrome,” “dandy-walker variant,” “tumor,” “cancer,” and “neoplasm” retrieved 33 detailed studies (41 cases) of neoplasm concurrent with DMW (Table 1). [15–47] Congenital vascular diseases were excluded as seen in PHACE syndrome. Out of the 41 cases, 8 patients had more than 1 neoplastic disease.…”

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confidence: 99%

Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report

Luo

Wang

et al. 2022

Medicine

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Introduction: Dandy-Walker complex and pleomorphic xanthoastrocytomas are both rare disease entities that typically manifest early in life and are associated with congenital etiological factors. Dandy-Walker complex is a cerebellar malformation associated with a series of anatomical changes. The disease onset is usually at birth or during infancy. Late onset in adulthood is uncommon. Pleomorphic xanthoastrocytoma is a rare WHO grade II astrocytic tumor affecting mainly young adults. Concomitant occurrence of Dandy-Walker complex and pleomorphic xanthoastrocytoma has not been previously reported.Patient concerns and diagnosis: A 30-year-old woman with a previous history of unconfirmed resected lateral ventricle meningioma presented with severe headache for 1 day. Imaging examination revealed a mass in the right lateral ventricle with heterogeneous signal patterns, changes in the posterior fossa corresponding to a Dandy-Walker variant, and mild hydrocephalus.Interventions and outcomes: Surgical complete resection of the mass was achieved. postoperative histopathological examination confirmed WHO grade II pleomorphic xanthoastrocytoma. Three years postsurgery, ventriculoperitoneal shunt was performed due to worsening of hydrocephalus. The patient has since remained symptom-free.Conclusion: This is the first report of concomitant occurrence of Dandy-Walker complex and pleomorphic xanthoastrocytoma. The association of neurological congenital malformation with intracranial neoplasms may be multifactorial, with underlying role of genetic mutations or chromosome alterations.

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“…[20] This syndrome may be associated with nonneurological clinical entities such as neurocutaneous syndromes which can be a treatment challenge and are currently under research. [21,22] DWS requires management if one becomes symptomatic mainly for hydrocephalus. Shunting of the lateral ventricle along with cyst is effective management.…”

Section: Discussionmentioning

confidence: 99%

Revisiting dandy–Walker malformation with associated neurofibromatosis

et al. 2021

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This report describes a very rare Dandy–Walker malformation (DWM) associated with neurofibromatosis (NF) and bony defect over torcula emphasizing the role of meticulous follow-up for asymptomatic DWM. The clinical aspects of an adolescent patient with undiagnosed DWM who was asymptomatic until the age of 14 years are being discussed. Computed tomography and magnetic resonance imaging were revealed DWM. To our knowledge, this is the first report from India that describes a patient who has been diagnosed with DWM with associated NF with bony defect over torcula creating a management dilemma.

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PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome

Cited by 7 publications

References 8 publications

The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports

The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports

Lateral ventricle pleomorphic xanthoastrocytoma concurrent with Dandy-Walker complex: A case report

Revisiting dandy–Walker malformation with associated neurofibromatosis

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