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| Disease found: | Dandy-Walker Malformation |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | Congenital neurological anomaly with agenesis or hypoplasia of the cerebellar vermis and enlargement of the fourth ventricle, often leading to hydrocephalus [more info] |
| Signs and Symptoms: | Hydrocephalus, macrocephaly with bulging occiput, intracranial hypertension, severe headache, blurred vision, vomiting, seizure, nystagmus, ataxia. |
| Diagnosis: | Cranial ultrasound or brain CT or MRI. Prenatal diagnosis of Dandy-Walker malformation is sometimes made by ultrasound or fetal MRI. |
| Treatment: | supportive: control intracranial pressure, usually through surgery (ventriculoperitoneal (VP) or cystoperitoneal (CP) shunts) or endoscopy (endoscopic third ventriculostomy (ETV) [more] |
| Clinical Management: | Continuous support based on patient symptoms. Vaginal delivery is not contraindicated but people with a pregnancy affected by Dandy-Walker malformation should receive more frequent ultrasounds and close obstetrics follow-up; cesarean section may be necessary due to macrocephaly [more]. Offer families genetic counseling. Children are likely to have developmental delay and other birth defects requiring longitudinal monitoring [more] |
| Referral: | Often seen for treatment in Neurosurgery, and followed by Pediatric Neurology and Medical Genetics. Referral to Medical Genetics Department, if available. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | currently recruiting through ciliopathies, clinicaltrials.gov and one for patients with Dandy-Walker and urogenital abnormalities |