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ELSEVIER
DOI: 10.1016/j.inat.2023.101894
关键词
Epilepsy; PVNH; Congenital anomaly
This report presents a rare case of a 19-year-old male with bilateral periventricular nodular heterotopia (PVNH) and an intra-axial pontine lesion. Unlike the common diffuse midline glioma, the patient's condition is more favorable, and the lesion is suspected to be a pilocytic astrocytoma. The final diagnosis was made based on clinical evaluation and various medical diagnostic tests, and management and follow-up were initiated.
This report presents a rare case of a 19-year-old male with bilateral periventricular nodular heterotopia (PVNH), a congenital brain abnormality resulting from failed neural cell migration, along with an intra-axial pontine lesion of unknown pathology. The differential diagnosis of childhood brainstem tumors in such cases commonly includes diffuse midline glioma (DMG), which is associated with a dismal prognosis due to H3 K27 gene mutation. However, this case exhibits a unique focal dorsal exophytic brainstem glioma variant, accounting for only a small percentage (approximately 10 %) of pontine tumors and carrying a more favorable prognosis. The lesion is suspected to be a pilocytic astrocytoma, presenting distinct neurological symptoms. In this case, the patient presented with symptoms include mainly occasional tonic-clonic seizures, right side mild spasticity with ataxic gait and right eye blurring of vision along with right side facial palsy. The patient's clinical evaluation, in conjunction with various medical diagnostic tests and MRI with and without contrast, led to the final diagnosis. Management began with anti-epileptic medication, with a plan for further treatment and follow-up.
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