KEY FACTS Terminology Acute blood between inner border cell layer of dura, arachnoid Imaging NECT as initial screening study Use both bone, soft tissue algorithms Use both standard brain, wide windows (150 HU) Coronal, sagittal reformatted scans best for detecting…
Approach to Head Trauma General Considerations Epidemiology : Trauma is the most common worldwide cause of death and disability in children and young adults. In these patients, neurotrauma is responsible for the vast majority of cases. In the USA and…
KEY FACTS Terminology Li-Fraumeni syndrome (LFS) Autosomal-dominant familial cancer syndrome 75% of LFS cases have loss of function mutations in TP53 tumor suppressor gene Lifelong ↑ risk of osteosarcoma, soft tissue sarcoma, leukemia, breast cancer, brain tumors, melanoma, adrenal cortical…
KEY FACTS Terminology Lhermitte-Duclos disease (LDD) Benign cerebellar lesion; unclear if neoplastic, malformative, or hamartomatous Multiple hamartoma syndrome (MHAM) → autosomal dominant, mutation in PTEN gene, associated with increased incidence of malignancy MHAM = Cowden syndrome (CS); Cowden plus Lhermitte-Duclos…
KEY FACTS Terminology Hereditary hemorrhagic telangiectasia (HHT) Rendu-Osler-Weber, Osler-Weber-Rendu syndrome Autosomal dominant disorder with widely distributed, multisystem angiodysplastic lesions Mucocutaneous telangiectasias with arteriovenous malformations (AVMs) in visceral organs (primarily lungs, brain, liver) Imaging Best diagnostic clue Multiple pulmonary or cerebral…
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…