DIFFERENTIAL DIAGNOSIS BETWEEN DANDY-WALKER SYNDROME AND MEGA CISTERNA MAGNA - A CASE REPORT IN GENERAL PRACTICE

Introduction. Dandy-Walker syndrome (DWS) is considered a rare congenital brain malformation. It is not commonly reported from a general practitioner’s point of view.
Case Description. In 2002 the patient was born with intraventricular haemorrhage II, Apgar score 1/3/5 and was admitted to ICU. Three months after birth parents noticed developmental delay. At the age of 10 months (September 19th, 2003) the patient was diagnosed with periventricular leukomalacia and Dandy-Walker syndrome after brain MRI (Magnetic Resonance Imaging) demonstrated wide posterior fossa with open foramen magendie communicating with the 4th ventricle and hypoplastic vermis cerebelli inferior. The parents and family physician worked on patient’s condition with regular physical, occupational and
speech therapy sessions. In the September of 2020, the patient received another head MRI, that suggested, that the patient has mega cisterna magna without previously described findings. After thorough investigation diagnosis was made.
Summary. Patient started to show signs of neurological disorder soon after birth and was diagnosed with Dandy-Walker syndrome. At the age of 17 another MRI was performed, that concluded that there were no characteristic signs of DWS, but a finding of mega cisterna magna. Clinical presentation supports DWS diagnosis as more likely in this case.
Conclusion. Dandy-Walker syndrome is a rare anomaly, and it could be misdiagnosed in people with mega cisterna magna and vice versa especially in patients with perinatal hypoxia. Mega cisterna magna refers to a normal variant, but in this case, patient has severe neurologic deficit, DWS supports the clinical presentation. It is vital for patients with neurologic deficit to receive regular physical, occupational and speech therapy to maintain their health. Uncertainty of diagnosis rises doubts in adequacy of care both in patient’s parents and family physician.