SPINE Congenital Flashcards

Question

Failure of vertebral formation: physiopath

Answer 1

Failure of chondrification and ossification (day 40-60): -Total aplasia: Both chondral centers fail to develop early in development -Lateral hemivertebra: 1 chondral center does not develop; ossification center subsequently fails to develop on that side -Sagittal cleft (butterfly) vertebra: Separate ossification centers form (but fail to unite) in each paired paramedian chondrification center -Coronal cleft vertebra: Formation and persistence of separate ventral and dorsal ossification centers -Posterior hemivertebra: Later failure at ossification stage Genetics: abnormal PAX1 gene expression.

Answer 2

M=F Usually diagnosed in infancy/childhood. Isolated or part of a syndrome. Increased risk with parental consanguinity. Asymptomatic. Diagnosed during scoliosis evaluation. Association (neural deficit, limb or visceral abnormalities)

Answer 3

Other developmental vertebral abnormalities: - Partial duplication (supernumerary hemivertebra) -Segmentation failure (block vertebra, posterior element dysraphism, pediculate bar, neural arch fusion) -Dysraphism, split notochord syndromes (Diastematomyelia), syrinx, tethered cord/fatty filum, congenital tumor -Syndromes: Klippel Feil, VACTERL, Gorlin, OEIS, Gorlin, gastroschisis, mucopolisacaridosis - Visceral abnormalities; 61% of congenital scoliosis patients Tracheoesophageal fistula common association (part of VACTERL)

Answer 4

-Xray weight bearing. Best modality for "counting" vertebral levels, determining presence and severity of scoliosis -CT: improves dx of ± posterior element dysraphism, fusion anomalies -MR: Best modality. Normal marrow and disc signal intensity. T2: helps with ± lipoma, tethered cord, diastematomyelia, spinal cord compression

Answer 5

Vertebral column malformations (block vertebra, neural arch fusion, pediculate bar) resulting from deranged embryologic development → failure of normal segmentation

Answer 6

(Similar to failure of vertebral formation) M=F Severe cases in infancy/ mild cases in adulthood. Either asymptomatic or scoliosis (accounts for 18%) Part of a syndrome.

Answer 7

Block vertebra: Failure of ≥ 2 vertebral somites to segment * Combined vertebrae may be normal height, short, or tall * Disc space frequently rudimentary or absent * Frequent association with hemivertebra/absent vertebra above or below block level, posterior element fusion

Answer 8

Posterior arch anomaly: * Failure to unite in midline → dysraphism (± unilateral pedicle aplasia/hypoplasia) * Unfused spinous processes; L5, S1 > C1 > C7 > T1 > lower thoracic spine * Multiple level posterior fusion → congenital vertebral bar

Answer 9

-Back **Pain** -Enlargement of **Transverse process**. -Unilateral or bilateral -Most caudal **lumbar** vertebrae -**Articulation or fusion** with sacrum or ilium

Answer 10

Myelomeningocele (MMC): Open (lacking skin covering) spinal dysraphism in which neural placode (exposed flattened end of elongated spinal cord) protrudes beyond skin surface dorsal to spinal canal MC: Open spinal dysraphism with neural placode flush with skin surface

Answer 11

Slight **FEMALE** predominance. Most commonly due to **folate** insufficiency. Other causes: **antiepileptic** medication, obesity. Clinically: -Visible defect -**Neurological deficit: ~80% bowel, bowel dysfunction, lower limb**

Answer 12

Failure of closure of neural tube at 3rd week of gestation (caudal neuro pore should have closed at day 27-28) Multifactorial: - Folate deficiency, abnormal folate absorption -In utero exposure to teratogens Genetics: -PAX 3 abnormal expression -Methylenetetrahydrofolate reductase (MTHFR) mutation

Answer 13

- ~**85% hydrocephalus 90% Chiari II**: requireing CSF diversion. - ~**85% hydrocephalus 90% Chiari II** - Cord re-tethering (clinical diagnosis) - Shunt malfunction - Other: syringohydromyelia ~50%, arachnoid cyst, dermoid/epidermoid, dural ring constriction, brainstem compression, myelopathy, cord ischaemia.

Answer 14

-Aneuploidies: T13, T 18 -Kyphoscoliosis (neuromuscular type) -Other malformations: ~50% syrongomyelia, ~46% splic cord malformation, diastomatomyelia, arachnoid cyst, tethering cord, vertebral segmentation, dorsal dermal sinus, caudal agenesis

Answer 15

-Spinal dysraphic defect (parallel orientation of unfused lamina/spinous process) -Elongation of spinal cord -Neural placode inserting on back of thecal sac. -MMC or MC sac outside of skin level. -Location: Lumbosacral ~45% Thoracolumbar 30% Lumbar 20% Cervical 2% Dx: MR best tool.

Answer 16

**Closed** spinal dysraphysm. Presence of **placode-lipoma interface** (elongated spinal cord attaches to lipomatous tissue that is continuous with dorsal subcutaneous fat) LMC: interface located within spinal canal LMMC: interface protrution

Answer 17

Dx in infancy. Soft mass covered by skin above buttocks. 60% neurologically normal, 88% will develop.

Answer 18

Premature dysjunction of neural tube from ectoderm. This allows the mesenchyme to become part of neural fold, preventing the neural tube to close. The mesenchyme is later induced into fat tissue.

Answer 19

~10% anorectal and genitourinary malformations (bifid uterus, duplicated vagina, renal agenesis) ~25% syringohydromyelia <10% split cord malformation 40 other vertebral segmental abnormalities (25% sacral hypoplasia/agenesis. OEIS, Klippel Feil, caudal agenesis.

Answer 20

Elongated spinal cord attached dorsally to lipomatous tissue, which is in continuity with dorsal subcutaneous fat, through osseus spinal dysraphic defect. Does not move dependently/ventrally in prone position Most commonly **lumbosacral**.

Answer 21

Incomplete closure of posterior bony elements of the spine. No dural or neural abnormality. 2 forms: open (80%) or closed SB.

Answer 22

failure of normal development neural tube (segmentation anomaly) Multifactorial: genetic (PAX 1) and environmental.

Answer 23

Associations can occur up to **40%.** -Aneuploidy: **T18**, T13, triploidy -Syndromes: VACTERL, Klippel-feil, Aicardi -Anatomic associations: Chiari II, hydrocephalus, limb anomalies (rocker bottom feet, talipes), neuroenteric cyst.

Answer 24

* Six types: Neurocentral synchondrosis Retrosomatic/pedicular cleft Spondylolysis (pars interarticularis defect) Retroisthmic cleft Paraspinal cleft (spina bifida occulta) Spinosus cleft (spina bifida occulta)

Answer 25

Lateral meningocele. Meningeal dysplasia which causes meningeal protrusion (dural +arachnoid) through lateral exit neural foraminas into intercostal/extradural space. Causes secondary osseous remodelation/scalloping. Genetically: NOTCH 3 mutation. Associations: strong NF 1 (85%) W/ connective tissue anomaly: Marfan, Ehlers Danlos Classically 4-5th dacade. If isolated: asymptomatic More frequently part of a syndrome. If large: nonspecific motor or sensory symptoms (cord/nerve root compression) Rarely respiratory issues.

Answer 26

CSF-filled sac that protrudes laterally through exit neural foramina into intercostal/extrapleural space. Contiguous with neural foramen. Same density/intensity to CSF. Thoracic > lumbar Right > left If bilateral: think of syndrome (NF 1, Marfan, Ehlers Danlos) Best clue: MRI (which replaced myelogram) US: for paediatric screening. No post con enhancement.

Answer 27

Anterior Sacral Meningocele. Mostly sporadic. Meningeal herniation anteiorly into the pelvis through focal erosion or hypogenesis of sacral/coccygeal vertebral segments. Complex (with neural tissue, familial or currarino triad syndrome AD Ch7) or Simple (marfan, NF1) Path: classified as caudal cell mass anomaly.

Answer 28

Currarino Triad: Anorectal anomalies, + Caudal regression syndrome, + Epidermoid/dermoid tumor or other tethering lesion When simple: Marfan, NF1 When complex: familial type, part of curarino triad.

Answer 29

Presacral cyst. Contiguous with thecal sac through. Anterior osseous erosion/dysgenesis. Foraminal widening. Scalloping of anterior wall (scimitar sacrum) +/- scoliosis. Uni or multiloculated cyst. Usually no neural tissue. Located at sacrum/coccys. +/- lipoma/dermoid, cord tethering. Absence of Ca+ No contrast enhancement MR best. identify and characterize. Us for infant screening.

Answer 30

Rare abnormality. **F** > M Presents at birth with large skin-covered back mass Usually neurological intact but the lesion progresses and so develops lower limb neurosensory deficit.

Answer 31

Results from **abnormal secondary neurulation of caudal cell mass** Associated to other caudal cell mass abnormalities: Cloacal exstrophy, imperforate anus, omphalocele, pelvic deformities, equinovarus, ambiguous hypoplastic genitalia, and renal abnormalities Syndromic association: OEIS (omphalocele, bladder extrophy, imperforated anus, sacral agenesis) Caudal regresion syndrome. Complications: Chiari I, Chiari II, hydroephalus, vertebral segmentation abnormalities.

Answer 32

**Triad**: -Closed sacral/coccyx dysraphysm -Arachnoid lined meningocele contiguous with spinal subarachnoid space -Low lying hydromyelic tethered cord in the meningocele, expands into large terminal cyst. **MR** best imaging tool to make diagnosis and find associatins and complications.

Answer 33

Dorsal dermal sinus. Closed spinal dysraphism. Midline/paramidline subcutaneous sinus tract (lined by stratified squamous epithelium) extending from skin surface (above the intergluteal cleft) toward deep layer (may end in subcutaneous tissues, fascia/muscle, vertebrae, epidural space, subarachnoid space, or even intramedullary within spinal cord) Presentation: -Asymptomatic. -Infection meningocele, abscess. -Neurologic defect.

Answer 34

Path: Closed spinal dysraphism due to incomplete disjunction of cutaneous & neural ectoderm at 3- to 8-weeks gestation. When spinal cord is surrounded by mesenchyme & undergoes relative ascent with respect to spinal column, adherence remains & forms long, epithelium-lined tract. Tract is lined by stratified squamous epithelium Associations/complications: -Cutaneous stigmata: Midline or paramidline dimple above gluteal cleft, hyperpigmented patch, capillary malformation/stain, hairy nevus -Up to 40% can be seen with additional coexisting closed spinal dysraphism (e.g., lipomyelomeningocele, split cord malformation, tethered cord syndrome) -(Epi-)dermoid cyst (~ 50%) -Tethered cord, intradural lipoma, split cord malformation -Infection: meningitis, abscess

Answer 35

Morphology: Linear, midline/paramidline, sagittal T1-hypointense tract in subcutaneous tissues -Terminates anywhere from subcutaneous tissues (blind ending) to spine (epidural, intradural/intrathecal, or even intramedullary) -Course varies from short to long: extraspinal or intraspinal (>50%, May terminate in subarachnoid space, conus medullaris, filum terminale, nerve root, fibrous nodule on cord surface, or (epi-)dermoid cyst) ± (epi-)dermoid cysts along tract (~ 50%) ± tethered cord with low-lying conus medullaris, intradural lipoma, or split cord malformation -Intraspinal extension may be occult on imaging (necessitating operative exploration of dura) -Located anywhere along neuraxis; most common location ~ 70% is lumbosacral region above intergluteal cleft, 25% occipital. Dx: MR imaging best demonstrates constellation of abnormalities T1 and T2: hypointense tract. Dorsal dural tenting may indicate point of dural penetration Contrast for concern of infection/inflammation or evalution of emangiom extent. US: for initial screening in infants< 6months

Answer 36

Tethered spinal cord. Abnormally low position (**below L2**)& **restricted mobility** of conus medullaris and **thickened filum terminale >2mm**, in concert with characteristic symptoms -Symptoms appear during **rapid growth period **(4-8yo, adolescents growth spurt) -**Cutaneous stigmata present in ~50% (**Hairy patch, hemangioma, skin tag, atypical dimple) -**Lower extremity motor weakness and sensory dysfunction** (weakness, spasticity. Abnormal gait, reflexes, **bladder dysfunction**) -**Scoliosis (20%)**, vertebral segmentation abnormalities, dysraphysm. -**Pain** (secondary to degenerative chanes)

Answer 37

Incomplete retrogressive differentiation with failure of terminal cord involution or failure of filum terminale to lengthen Associations: -55% with thickened filum terminale >2mm -25% syringohydromyelia or myelomalacia -VACTERL -Open, closed spinal dysraphism -Scoliosis, vertebral segmentation abnormality. -23% Fibrolipoma -3% filar cyst Complication: Progressive, irreversible neurologic impairment

Answer 38

Best clue: Low-lying conus medullaris: below L2-L3 disc level -May appear taut or directly attached to dorsal thecal sac Lack of conus motion with CSF pulsations Lack of dependent ventral shift of conus when prone -May have thickened filum terminale 55% (>2mm at L5-S1) ± fatty infiltration or lipomatous mass 25% ± bony/soft tissue dysraphism ± hyperintense dilation of lumbar/conus central canal secondary to syringohydromyelia or myelomalacia 25% -US to screen infants < 6 months (cutaneous stigmata present in ~50%, or systemic anomalies) -MR to define underlying anomalies for surgical planning in symptomatic patients

Answer 39

Epidermoid cyst. Cystic lesion containing **squamous epithelium**. *No skin appendages. * Congenital 60% M. Clinical presentation **3-5th decade. M** > F **Asymptomatic**. If symptomatic, **slowly progressive**: lower limb motor and sensory issues, bowel bladder dysfunction. Acquired 40% Implantation of skin elements during spinal puncture, MMC surgery. Extramedullary, near vertebral interspace.

Answer 40

Squamous epithelium with progressive desquamation and breakdown of keratin into the cyst. Congenital: anomalus implantation of ectodermal cells during closure of neural tube 3-5GA. Macro: white capsule, white material. Associations: 20% dermal sinus, segmentation anomalies, diastematomyelia. Rare closed spinal dysraphism.

Answer 41

Uni or multilobular. 40% intramedullary. 60% extramedullary. Cauda equine 35%, lower thoracic 26% or, lumbar 22% Acquired: cauda equina Appears as simple cyst: T1 (but brighter than CSF) T2 , faint peripheral enhancement, DWI restriction (keratin)

Answer 42

Dermal cyst. Benign cystic lesion lined by squamous epithelium, also containing skin appnedages (follicles, sweat glands, sebaceous glands) Congenital 60% Present in childhood, **<20yo. M=F.** Asymptomatic. If symptomatic, slowly progressive: lower limb motor and sensory issues, bowel bladder dysfunction. Rarely rupture= acute symptoms (acute chemical meningitis) Infectious meningitis if associated with dermal sinus. Acquired 40%: iatrogenic. LP.

Answer 43

Result from inclusion of epithelial issue within the neural groove during embryonic development. Macro: wall might be thickened with Ca+, containing yellowish material Associations: **20% dermal sinus**, segmentation anomalies, diastematomyelia Rare closed spinal dysraphism. Complication: -**cyst rupture** (Acue chemical meningitis)multifocal T1 high signal areas (fat) are demonstrated within the subarachnoid space and/or ventricular system.) -Infectious meningitis (if associated with dermal sinus)

Answer 44

40% intramedullary. 60% extramedullary. **60% lumbar, 20% cauda equine.** (rarely thoracic or cervicaal) **Fat** content + keratin T1 hyper (fat or sebaceous gland) hypo (water) T2: hyper faint peripheral enhancement, Less likely to DWI restriction. Supresses with Fat suppression sequences. Bony remodelling/errosion Best tool: MR

Answer 45

Diastematomyelia. Sagital division of spinal cord into 2 hemicords, each with 1 central cana. dorsal horn and ventral horn. Presentation at **childhood**. Mainly **F**. Indistinguishable from causes of tethered spinal cord. **Cutaneous stigmata **indicate DSM level (**> 50%)**; "fawn's tail" hair patch most common Other severe cases: **progressive kyphoscoliosis, neurologic and MSK abnormalities.**

Answer 46

Path: **Split notochord syndrome spectrum** (with dorsal enteric fistula/sinus, and dorsal enteric cysts/diverticula). Genetics: sporadic (rare familiar cases) Associations: **85% Congenital spinal deformities Congenital scoliosis (79%) Tethered spinal cord (75%); thickened filum terminale (40-90%) Syringohydromyelia (50%) 1 or both hemicords, usually above DSM Intersegmental laminar fusion (60%); Spinal dysraphism (myelocele/myelomeningocele 15-25%, hemimyelocele 15-20%)** Segmentation and fusion anomalies (SFA) Chiari 2 malformations (15-20%) Spinal lipoma (26%) Dermoid cyst (13%) 20% Other split notochord syndromes(with dorsal enteric fistula/sinus, and dorsal enteric cysts/diverticula). Complications: Cord ischaemia, Roots may adhere to dura: meningocele manqué

Answer 47

Morphology: Best clue: **Fibrous or osseous spur splits spinal cord into 2 hemicords** Hemicords usually reunite above and below cleft Hemicords can be **symmetric** (Each hemicord contains 1 central canal, dorsal horn/root, and 1 ventral horn/root surrounded by pial layer) or **asymmetric** (Division of anterior or posterior hemicord ("partial DSM") ± **fibrous or osseous spur** = Type 1 ± **thickened filum, cord tethering**. Either **1 or 2 dural tubes**. **Thoracolumbar** cleft (85% between T9 and S1) > > upper thoracic, cervical clefts **Pang type I** Separate dural sac, arachnoid space surrounds each hemicord Osseous/fibrous spur More commonly symptomatic. More anomalies. Worse prognosis. **Pang type II** Single dural sac, arachnoid space No osseous spur; ± adherent fibrous bands tether cord Rarely symptoms (unless hydromyelia, tethering) Dx: **US to screen i**nfants with skin dimple or cutaneous marker **MR i**maging most definitive for characterization Bone CT ± myelography to optimally define spur anatomy for surgical planning

Answer 48

KLIPPEL FEIL SYNDROME.

Answer 49

**2-3rd decade**. Slight F. **Classic triad (~50%): Short neck, low posterior hairline, and limited cervical motion** 3rd decade: symptoms of **degenerative** changes, cervical motion limitations. Path: not universally accepted. Classified within abnormal segmentation. Mostly sporadic. Could be hereditary (AD or AR)

Answer 50

Associations: **Scoliosis (usually congenital) ± kyphosis (60%)** Hemivertebrae, butterfly vertebrae, spina bifida (other **segmental abnormalities**) Odontoid dysplasia, basilar impression, C1 assimilation, occipitocervical instability **Syringomyelia, diastematomyelia (20%)**, Chiari 1 malformation (8%), neurenteric cyst or dermoid (rare) Cervicomedullary neuroschisis ± synkinesis (20%) Sprengel deformity ± **omovertebral bone (15-30%**); **Other**: Sensorineural hearing loss (30%), external ear anomalies, genitourinary tract abnormalities (35%), congenital heart disease (14%), upper extremity deformity, facial anomalies Complications: ↑ risk of **neurologic injury** following minor trauma secondary to hypermobility of cervical segments.

Answer 51

-Congenital **cervical** segmentation and **fusion** anomalies of **> 2 levels** -Single or multilevel. -**C2-C3 (50%) > C5-C6 (33%) > craniovertebral junction (CVJ), upper thoracic spine** -Vertebral **bodies** usually **smaller** than normal -Vertebral body narrowing ("**wasp waist**") at fused **rudimentary disc space **± **fusion of posterior elements** -**Adjacent** disc spaces at mobile levels ± **degenerative** changes -Spinal canal diameter usually normal (if enlargement, consider syringomyelia. If narrow, secondary to degenerative changes) Types: I (9%): Massive fusion of cervical, upper thoracic spine → severe neurologic impairment, frequent associated abnormalities I**I (84%): Fusion of ≥ 1 cervical vertebral interspaces** III (7%): Fusions involve cervical and lower thoracic/lumbar vertebra Dx: Radiography to evaluate and follow instability (flex/extend), degenerative changes MR to exclude cord compression, detect degenerative changes Recommendation: **Look for instability,** progressive degenerative changes, **cord/brainstem compression**

Answer 52

Basilar invagination. Def: tip of the odontoid process projects above the foramen magnum. Presentation: asymptomatic until 2nd to 3rd decade (weakness, neck pain, bowel and bladder disturbance and/or paresthesia)

Answer 53

**Paget**, **RA and rickets**, **Osteogenesis imperfecta**, **osteomalacia**, **Klippel Feil** Achondroplasia, cleidocranial dysostosis, hyperparathyroidism, Fibrous dysplasia,

Answer 54

Findings: **30% **associated with **neuraxis abnormality**: **Chiari**, **syringomyelia**, hydrocephalus. Often associated with **platybasia** (skull base flattening over 143 grades) **Stenosis of foramen magnum and compression of medulla oblongata. **

Answer 55

Mutation at type I collagen. Affects bones, skin and sclera. Sporadic or AD. Clinically: Short statue Kyphosis. Blue sclera, deafness, brittle teeth, joint laxity, fragil thin skin, respiratory and cardiac abnormality.

Answer 56

* Osteopenia * Cortical thining (reduced medullary trabeculae) * Fractures at vertebra (codfish vertebra: cupping of superior and inferior vertebral body endplates) * Long bones bowing and angulation. * Zebra stripe sign (post medical treatment) * Enlarged epiphyses * Popcorn metaphyseal calcifications * Medullary cavity filled with fat * Other: basilar impression, otospongiosis, protrusion acetabulae, coxa vara.

Answer 57

Osteopetrosis. Uncommon. Heterogeneous group of hereditary disorder characterised by defective osteoclast functioning. Results in incrased bone density and sclerosis, distorted architecture. Clinical presentation: (infantile, intermediate, adult) Varies depending on age of presentation. General: Fractures, pain, neurologic symptoms. Long bone more common Infantile form, more advanced: Dense bones, marrow space obliteration, Growth disturbance Delayed form: Thickened bone cortex, bone within bone appearance

Answer 58

Mutation found in > 90%. Affects either ↓ number or ↓ functionality. -AR: infantile type (malignant type) Severe anemia, hepatosplenomegaly, recurrent infections, fractures, macrocephaly, progressive blindness > deafness, ± hydrocephalus, coxa vara -AD type 1 (not true): enhanced osteoblast activity → high bone mass Universal osteosclerosis but marked at cranial vault while spine is almost unaffected -AD type 2: most common form. ~40% are asymptomatic. Osteosclerosis predominantly involves spine, pelvis, & skull base; mandibular osteomyelitis -X linked recessive (very rare) Macro: Dense, brittle bones with ↑ fracture risk. Micro: disorganized dense bones (not functional).

Answer 59

General: -**Diffuse ↑ bone density **(hyperostosis and sclerosis), **severe cortical thickening**, l**oss of corticomedullary differentiation** with dense bone extending into medullary space. Skull, brain, face: Macrocrania, frontal bossing T**hick, dense skull base &/or calvarium** cranial vault (**Loss of diploic space)** Absent/underdeveloped paranasal sinuses. Axial skeleton: -**Bone-within-bone** appearance (vertebral, carpal. Idem inability to remodel bone) -**Rugger jersey **or sandwich vertebrae (sclerotic endplates) vs diffuse sclerosis. -"**black bone**": infantile type: Complete absence of marrow due to replacement by dense bone -Ribs & costochondral junctions: Widening -Pelvis: Bone-in-bone appearance Appendicular skeleton: -**Dense** skeleton vs. **radiolucent** bands in metaphyses (Loss of corticomedullary definition) -Undertubulation **Erlenmeyer flask demormit**y of metaphyses (widening of bone shaft, mostly distal femur.) (inability to remodel bone: cortical bone is not resorbed and remains visible within larger (more adult) -Coxa vara ± extramedullary hematopoiesis

Answer 60

Caudal regression syndrome. Constellation of caudal developmental growth abnormalities and associated soft tissue anomalies raging from absent coccyx to lumbosacral agenesis Clinical: In utero ~ adulthood. M=F. Ranges from neurologically normal → severely impaired (mild foot disorders → complete lower extremity paralysis and distal leg atrophy, neurogenic bladder dysfunction, morotr and sensory deficit) Association with diabetic mother.

Answer 61

2 main group: -Group 1: More severe caudal dysgenesis with high-lying, club-shaped cord terminus (↓ number of anterior horn cells). Distal spinal cord hypoplasia, severe sacral osseous anomalies -Group 2: Less severe dysgenesis with low-lying, tapered low lyingdistal cord elongation and tethered by tight filum, lipoma, lipomyelomeningocele, or terminal myelocystocele

Answer 62

100% tethered cord and low conus. 65% thickened filum +/- dermoid/lipoma ~50% MMC ~20% other spinal anomalies (vertebral, diastematomyelia, terminal hydromyelia, lipoMMC, terminal myelocystocele, anterior sacral meningocele, terminal lipoma) 24% congenital heart defect, pulmonary hypoplasia 24% genitourinary abnormality (renal agenesis/ectopia, mullerian duct malformation, urinary bladder malformation) Anorectal anomalies (particularly anal atresia) Currarino triad: Partial sacral agenesis with intact 1st sacral vertebra, presacral mass, anorectal malformations Association with VACTERL (10%), omphalocele, exstrophy bladder, imperforate anus, spinal anomalies (10%), and Currarino triad syndromic complexes Orthopaedic: extreme case of fusion (sirenomelia)

Answer 63

Morphology: Clue: Incomplete lumbosacral spine formation + Abnormal distal spinal cord Spectrum: Partial or total. Unilateral or bilateral. Dysgenesis, hypogenesis lumbosacral joints. Vertebral column terminates in thoracic spine Caudal vertebral bodies often fused. Severe osseous canal narrowing rostral to last intact vertebrae Location: lumbosacral segment ± prominent nerve/dorsal root ganglion (DRG) enhancement -Group 1: Distal spinal cord hypoplasia (wedge-shaped cord termination), severe sacral osseous anomalies. ± dilated central canal, conus CSF cyst -Group 2: Tapered, low-lying, distal cord elongation with tethering, less severe sacral anomalies Dx: US for infant. MR for further assessment, treatment planning. (lumbosacral deficiency, distal spinal cord morphology, and presence/absence of tethering/lipoma, hydromyelia, osseous spinal narrowing, etc)

Answer 64

Neuroenteric cyst. Cyst along neuraxis lined with mucin-secreting cuboidal or columnar epithelium resembling alimentary tract. Derived from displaced endodermal tissue Clinical: Adolescent. Slight M Some asymptomatic, but most show progressive neurologic deterioration, headaches Usually present in adolescents; Acute presentation rare, usually from infection → meningitis

Answer 65

Path: -Caused by incomplete separation between primitive endoderm & ectoderm during 3rd embryonic week -Enteric & spinal structures connected through persistent neurenteric canal (a.k.a. canal of Kovalevsky) (Normally, this cannal transiently connects amniotic cavity and yolk sac from 23-25 days) Sporadic or syndromic (Klippel-Feil, VACTERL, OEIS) Associations: -Associated with vertebral anomalies, split cord malformation, lipoma, dermal sinus tract, & tethered spinal cord -Malformations of gastrointestinal tract: Duplication, fistula, anal atresia -Syndromic (Klippel-Feil, VACTERL, OEIS)

Answer 66

Morphology: Cyst along neuraxis ± vertebral segmentation anomalies ~50% Usually intraspinal (~ 90%) Most are intradural extramedullary ~90% simple unilocular cysts (rarely multilocular) Cyst similar to CSF of proteinaceous/hemorrhagic Ventral > > dorsal to spinal cord Mainly lower cervical or upper thoracic Intracranial (~ 10-25%) (~90% posterior fossa) Can be associated with other closed spinal dysraphisms Mass effect on spinal cord, Enlarged spinal canal with widening of interpedicular distance. Scoliosis Dx: **Tc-99m cyst uptake (gastric mucosa) confirms diagnosis** MR vertebral anomalies, cord compression, & cyst relationship to adjacent structures Bone CT/3D CT to characterize osseous anomalies, surgical planning

Answer 67

Sacrococcygeal Teratoma Most common tumor of the fetus or infant. Germ cell tumor made up of various parenchymal cell types from > 1 germ layer (usually all 3). Potentially grows both internally & externally (with latter more common). Both benign (80%, mature) & malignant (17%) varieties. F >> M -Frequently diagnosed in utero. -Most others: within furst few days of life (exophytic mass) -Type IV: present in childhood w/ urinary retention, bowel isusues, scoliosis, etc. -AD: Currarino triad: Presacral mass (usually anterior meningocele or SCT), anorectal malformation, sacral anomalies

Answer 68

Classification into **4 types**: **Type I (47%):** Primarily **external** in location **Type II (34%):** **Dumbbell shape**, equal pelvic & external components Type III (9%): Primarily located within abdomen/pelvis Type IV (10%): Entirely internal, no external component

Answer 69

Path: Failure in secondary neurulation (canalization and retrograsive differentiation) -Arises from pluripotential cells at caudal tip of notochord (coccyx) -Teratomas are made up of various parenchymal cell types from > 1 germ layer, usually all 3. May contain hair, teeth, cartilage, & fat, amongst other tissues -Genetic: Mainly sporadic. Curarino type is AD. There are familial tendency. -Tumors can be mature or immature. -17% malignant. Yolk sac tumor > embryonal Ca. Might require QT. Associations: 10% other congenital anomalies: Primarily defects of hindgut & cloacal region, other midline defect (MMC, spina bifida) Complications: -Arteriovenous shunting in tumor → **high-output cardiac failure** -**Hydrops > 90%** before birth, intratumoral haemorrhage, rupture, fetal demise. Prognosis/Treatment: Good prognosis with benign tumor and complete resection. -~15% risk of **recurrence** (tumor spillage/incomplete resection) Might require **QT**.

Answer 70

Morphology: **Always with presacral components; exophytic extension more common than internal growth** Heterogeneous **mixed solid & cystic **masses **Ca⁺⁺, fat, hemorrhage, cysts, various soft tissues **in mass Solid components may show moderate to **high vascularity** Classification into 4 types: Type I (47%): Primarily external in location Type II (34%): Dumbbell shape, equal pelvic & external components Type III (9%): Primarily located within abdomen/pelvis Type IV (10%): Entirely internal, no external component -**Malignancy: ↑ with age, type IV** Age at diagnosis. Subtype IV. Male. Necrosis/haemorrhage. Elevated α-fetoprotein. -Genetic type: Currarino triad: Presacral mass (usually anterior meningocele or SCT), anorectal malformation, sacral anomalies Dx: Best clue: Large, solid, cystic, or mixed mass with exophytic perineal/buttock component & relatively small presacral component. Ca²⁺, bone, fat, fluid levels, various soft tissues in mass. -**MR bes**t for identifying intraspinal extension, surgical planning. -Xray/CT: best for Ca+. Variable enhancement pattern post IV. -**US**: most common prenatal modality. -**PET**: often in evaluation of malignant **recurrence**

SPINE Congenital Flashcards

(94 cards)