KEY FACTS Terminology Autosomal-dominant dwarfism affecting spine and extremities a.k.a. achondroplastic dwarfism Imaging Shortened vertebral pedicles Decreasing interpediculate distance toward lower levels of lumbar spine Mildly flattened &/or anteriorly wedged vertebral bodies Thoracolumbar kyphosis Lumbar hyperlordosis Small foramen magnum Other…
KEY FACTS Terminology Rare autosomal dominant disease from chromosomal 22 defect in which all patients develop CNS tumors Mnemonic for NF2 tumors: M ultiple i nherited s chwannomas, m eningiomas, and e pendymomas (MISME) Top Differential Diagnoses Metastases Hemangioblastomas Nonsyndromic…
KEY FACTS Terminology Synonyms: von Recklinghausen disease, peripheral neurofibromatosis Mesodermal dysplasia with neurofibromas (NFs), spinal deformity, neoplastic and nonneoplastic brain lesions, and cutaneous stigmata Imaging Kyphoscoliosis ± multiple nerve root tumors, plexiform neurofibroma, dural ectasia/lateral meningocele Tumors range from tiny…
KEY FACTS Terminology Synonym: Dural ectasia Imaging Smooth remodeling of posterior vertebral body, expansion of osseous spinal canal, ± kyphoscoliosis Pedicular attenuation, widened interpediculate distance, erosion of anterior and posterior elements Patulous, expansile dural sac enlargement Easiest to appreciate on…
KEY FACTS Terminology Synonyms: Klippel-Feil syndrome (KFS) Congenital spinal malformation characterized by segmentation failure of ≥ 2 cervical vertebrae ± thoracic, lumbar segmentation failure Imaging Single- or multiple-level congenital cervical segmentation and fusion anomalies C2-3 (50%) > C5-6 (33%) >…
KEY FACTS Terminology Synonyms: Tethered cord syndrome (TCS), tight filum terminale syndrome Imaging Stretched, thinned cord with low-lying conus, thickened filum ± fibrolipoma/terminal lipoma, dysraphism, vertebral segmentation anomalies ↓ spinal cord motion Top Differential Diagnoses Normal variant low-lying conus Open…
KEY FACTS Terminology Synonym: Sacral dimple Imaging Low sacral dimple connecting to coccyx by fibrous tract Usually resides within intergluteal cleft No intradural extension by definition Variable size; deeper dimples usually evoke more physician and parental concern Top Differential Diagnoses…
KEY FACTS Terminology Synonyms: Dermal sinus tract (DST) Midline/paramedian stratified squamous epithelial-lined sinus tract Extends inward from skin surface for variable distance Imaging Sinus tract easily identified superimposed on background of cutaneous fat Terminus usually conus medullaris (lumbosacral) or central…
KEY FACTS Terminology Posterior spinal defect lacking skin covering → neural tissue, cerebrospinal fluid (CSF), and meninges exposed to air Synonyms: Meningomyelocele, open spinal dysraphism, spina bifida aperta, spina bifida cystica Imaging Lumbosacral (44%) > thoracolumbar (32%) > lumbar (22%)…
Terminology Definitions Morphogenetic fields Embryological cellular regions with potential for development into discrete anatomic structures Gradient fields Describe gradually varying potential to form specific individual bones and organs within morphogenetic field Homeobox genes Gene family complexes that regulate early embryologic…