KEY FACTS Terminology Synonyms: Sturge-Weber-Dimitri, encephalotrigeminal angiomatosis Imaging Imaging features are pial angioma with sequelae of chronic venous ischemia Pial angiomatosis unilateral (80%), bilateral (20%) Cortical Ca++, atrophy, and enlarged ipsilateral choroid plexus “Tram-track” calcification in cortex (not angioma) Early:…
KEY FACTS Terminology Tuberous sclerosis complex (TSC) Multisystem genetic disorder with epilepsy, multiorgan tumors, and hamartomas Spectrum of CNS hamartomas; all contain dysplastic neurons and giant (balloon) cells Caused by mutation in TSC1 or TSC2 gene Now considered an infantile…
KEY FACTS Terminology Familial cancer syndrome Multiple cranial nerve (CN) schwannomas, meningiomas, and spinal tumors Imaging Best diagnostic clue: Bilateral vestibular schwannomas Multiple extraaxial tumors Schwannomas of CNs and spinal nerve roots Meningiomas on dural surfaces (up to 50%) Intraaxial…
KEY FACTS Terminology Neurofibromatosis type 1 (NF1), von Recklinghausen disease, peripheral neurofibromatosis Imaging Benign hyperintense white matter (WM) lesions on T2WI in 70-90% of preteen children Lesions are poorly defined, no mass effect/enhancement May also involve cerebellar WM, globus pallidus,…
KEY FACTS Terminology Autosomal-dominant familial syndrome with hemangioblastomas (HGBLs), clear cell renal carcinoma, cystadenomas, pheochromocytomas Imaging 2 or more CNS HGBLs or 1 HGBL plus visceral lesion or retinal hemorrhage HGBLs vary from tiny mass to very large with even…
KEY FACTS Imaging Transmantle gray matter (GM) lining clefts Look for dimple in wall of ventricle if cleft is narrow/closed Up to 1/2 of schizencephalies are bilateral When bilateral, 60% are open-lipped on both sides GM lining clefts may appear…
KEY FACTS Terminology Malformation due to abnormality in late neuronal migration and cortical organization Neurons reach cortex but distribute abnormally, forming multiple small, undulating gyri Result is cortex containing multiple small sulci that often appear fused on gross pathology and…
KEY FACTS Terminology Heterotopia (HTP) Arrested/disrupted migration of groups of neurons from periventricular germinal zone (GZ) to cortex Imaging Ectopic nodule or ribbon, isointense with gray matter on every MR sequence Periventricular, subcortical/transcerebral, molecular layer Periventricular HTP located next to…
KEY FACTS Terminology Septooptic dysplasia (SOD) De Morsier syndrome Imaging Absent septum pellucidum, small optic chiasm Optic nerves, pituitary gland, septum pellucidum Coronal imaging shows Flat-roofed ventricles Downward-pointing anterior horns 3 orthogonal planes crucial to identify all findings Absent septum…
KEY FACTS Terminology Dandy-Walker spectrum (DWS) represents broad spectrum of cystic posterior fossa (PF) malformations DWS/complex “Classic” DW malformation (DWM) Hypoplastic vermis with rotation (HVR) Persistent embryonic Blake pouch cyst (BPC) Mega cisterna magna (MCM) Imaging “Classic” DWM Cystic dilatation…