Final pediatric interesting case asnr 2017

ASPNR
Pediatric Interesting Case Session

ASPNR
Moderators
Laurence Eckel, MD
Mayo Clinic
Susan Palasis, MD
Children’s Healthcare
of Atlanta
Emory University
Michelle Silvera, MD
Boston Children’s
Harvard University
Laura Hayes, MD
The Studer Family Children's
Hospital at Sacred Heart
Timothy Booth, MD
Dallas Children’s
UT Southwestern
Bruno Soares, MD
Johns Hopkins
Presenters

Tim: Case 1
Courtesy of Beth Kline-Fath, MD
Cincinnati Children’s Hospital

Fetus at 29 weeks with concern
for multiple anomalies
Sag SSFP
Cor and Ax T2

What is the diagnosis?
1. Merocrania
2. Encephalocele
3. Anencephaly
4. Congenital
cytomegalovirus

Merocrania
• In the spectrum of anencephaly (milder form)
• Partial or incomplete median defect
• Herniation of brain not covered by skin (open)
• Brain present, but disorganized
Pelizzari E, et al. Characteristic of fetuses
evaluated due to suspected anencephaly: a
population–based cohort study in southern
Brazil. Sao Paulo Med J. 2015; 133 (2): 101-8.

Anencephaly
• Complete absence of cerebral hemispheres and
calvarium
• Minimal residual BS and cerebellum
Case courtesy of G. Vezina

Encephalocele
• Sincipital
• Basal
• Occipital (75%)
– Skin covered
– Dysplastic brain within
encephalocele
– Vascular anatomy
important for pre-
surgical planning
• Atretic parietal

Congenital cytomegalovirus (CMV)
• MRI in this case done at 29 weeks
– Ventricular dilatation
– Abnormal gyration
– Periventricular Ca++
– Vermian hypoplasia
Ax GRE
*Cytomegalovirus-related fetal brain lesions: comparison between targeted ultrasound examination and
MRI. Ultrasound Obstet Gynecol 2008; 32: 900-905
Sag T2 Ax T2

Laura: Case 2
Courtesy of Nathan Hull, M.D.
Duke University

2 month old male with “bump on neck”
Ultrasound

2 month old male with “bump on neck”
Ax CE CT Cor CE CT
AxT2FS Ax post contrast T1FS Cor post contrast T1FS

1. Fibromatosis colli
2. Lymphoma
3. Primary neuroblastoma
4. Rhabdomyosarcoma
AxT2FS

Primary Cervical Neuroblastoma
• Primary cervical location
• Typically located in
posterior carotid space
• Often displaces carotid
sheath vessels
• Frequently with
calcifications
• Separate from
sternocleidomastoid muscle
AxT2FS Ax post contrast T1FS

Horner’s syndrome
• Oculo-sympathetic paresis
• Meiosis, mild ptosis, and apparent
enopthalmos
• Anhidrosis of ipsilateral face
• Causes:
– Congenital (brachial plexus injury or varicella)
– Acquired (surgery or trauma)
– Presenting sign of tumor in cervical region
• Neuroblastoma or ganglioneuroma

Heterochromia Iridis
• If before 2 years of age
• Unilateral lack of sympathetic stimulation
interferes with melanin pigmentation of the
melanocytes in the iris

Fibromatosis colli
• Fusiform thickening of sternocleidomastoid
muscle in infant
• Birth trauma
• Self-limiting
US CE CT T2

Rhabdomyosarcoma
• Often trans-spatial
• Hypointense on T1 and enhances
• Masticator space
• Calcification uncommon

Lymphoma
• Nodes usually greater than 10mm short axis
• Multiple, round, well-defined, homogeneous,
hypo-echoic, lack fatty hilum
• Submental, submandibular, upper deep cervical
chain
CECT

When will the 1st Annual ASPNR
Scientific meeting be held?
1. Fall 2018
2. Spring 2018
3. Fall 2023
4. Spring 2023

Michelle: Case 3
Courtesy of Carolina V. Guimaraes MD, Tushar Chandra MD, Thang Ngo MD
Texas Children's Hospital and Nemours Children's Hospital

3-year-old boy with history of seizures
Non- contrast Head CT

1. Labrune Syndrome
(Leukoencephalopathy with
Calcifications and Cysts)
2. Coats Plus Syndrome
3. TORCH infection
4. Aicardi-Goutières Syndrome
T2WI

Coats Plus Syndrome
• Mutation of CTC1 gene
• Disorder characterized by retinal telangiectasia and exudates (Coats
disease), intracranial calcifications, leukodystrophy and brain cysts
• Brain findings are similar to Labrune Syndrome, different genetic
mutation. Key to the diagnosis is the ocular and systemic findings

Labrune Syndrome
(LCC: Leukoencephalopathy with
Calcifications and Cysts)
*Leukoencephalopathy, Cerebral Calcifications, and Cysts in Two Sisters. Ogles RL. et al. Pediatr Neurol 2014
No eye or extraneurological findings

TORCH Infection/CMV
• Congenital CMV:
• 2nd to intra-uterine fetal infection
• Most common of the TORCH infections
• Most affected newborns are asymptomatic at
birth
• CT: calcifications
• MRI:
• microcephaly and atrophy
• migration anomalies
• white matter abnormalities
• ventriculomegaly with adhesions
• delayed myelination
• parenchymal cysts (temporal pole and
periventricular)
T2WI
SWI T1WI
T2WI

Aicardi-Goutières Syndrome
• Autosomal recessive leukoencephalopathy
• Caused by genetic mutations including
TREX1 and SAMHD1
• Characterized by microcephaly, unexplained
fevers, chronic CSF lymphocytosis, and raised
CSF interferon-a
• Clinical onset 1st year of life
• CT: calcifications basal ganglia, lobar white
matter and dentate nuclei
• MRI:
• White matter abnormalities
• Cerebral atrophy
• Cysts: temporal and frontal lobes
T2WI
CT

Bruno: Case 4
Courtesy of Beth M. Kline-Fath, MD

8 year-old boy found unresponsive after
returning from a camping excursion
DWIT2
Sag T1
FLAIR
Ax T1 C+

1. Mycoplasma Encephalitis
2. Toxoplasmosis Encephalitis
3. Rocky Mountain Spotted Fever
4. La Crosse Encephalitis
DWI

Rocky Mountain Spotted Fever
Our case *Crapp S, Harrar D, Strother M, et al. Pediatric
Radiology (2012) 42:499
Sag T1
(and dysgenesis of
corpus callosum
with lipoma)

Rocky Mountain Spotted Fever
• Tick-borne disease caused by
Rickettsia rickettsii
• Hematogenous spread to the
CNS and invades arterioles and
capillaries
• Multifocal ischemia related to
vasculitis results in “starry sky”
appearance
DWI

Mycoplasma Encephalitis
• M.pneumonia is a respiratory pathogen
• Encephalitis is the most common extrapulmonary
complication
• Unclear if MR findings are due to neuroinvasion,
autoimmune reaction, or both
• Central GM and splenial T2 hyperintensities
Ax T2 Ax FLAIR DWI

Toxoplasmosis Encephalitis
• Opportunistic infection caused by parasite Toxoplasma
gondii
• Extremely rare in immunocompetent patients
• Multiple BG, thalami, corticomedullary junction lesions
• Lesions often enhance
Ax FLAIR Ax SWI DWI

La Crosse Encephalitis
• Typically preceded by a prodrome illness of 2-3 days
• Scattered T2 hyperintensities; cortical, subcortical,
insula, putamen, medial temporal lobe
• Non-specific imaging appearance
Ax T2 Ax FLAIR DWI

Who pioneered the technique of
cerebral angiography?
1. Antonio Egas Moniz, University of Lisbon
2. Juan Taveras, Massachussetts General
Hospital
3. Hippocrates, Ancient Greece
4. Sven Ivar Seldinger, Karolinska Hospital,
Sweden

Portuguese neurologist
-developed cerebral angiography in 1927
-contributed to the development of the angiographic contrast agent
Thorotrast
-was awarded the 1949 Nobel prize in Medicine for the lobotomy
procedure
(1874-1955)

Tim: Case 5
Timothy N. Booth, MD
Children’s Health Dallas, UT Southwestern

10 month old with firm occipital STS, no
fever, trauma, or fluctuance
Sag T1WI Sag T2 FS Sag T1 FS post

1. Infantile desmoid
fibromatosis
2. Pyomyositis
3. Fibrodysplasia ossificans
progressiva
4. Non-accidental trauma
Sag T1 C+ FS

Fibrodysplasia ossificans progressiva
• Connective tissue disorder
• Positive MR findings are present
prior to plain film calcifications
• Most sporadic, AD (2q23-24)
• Characteristic skeletal findings
– Short 1st MT/MC, halus valgus
– clinodactyly
*Caron KH, et al. MR imaging of early fibrodysplasia ossificans progressiva. J Comput Assist Tomogr 1990; 14:318 –321
*Hagiwara H, et al. Contrast-enhanced MRI of an early preosseous Lesion of fibrodysplasia ossificans progressiva in a 21-month-
old boy. AJR 2003; 181: 1145

Patient was referred for possible non-accidental trauma
Fibrodysplasia ossificans progressiva

Non-accidental trauma
• Cervical spine injury in
NAT
– Ligamentous injury in
high percentage (70%)
– Capsular injury
– Thoracic compression
fractures
– Associated with brain
injury
*Kadom N, et al. Usefulness of MRI detection of cervical spine and brain injuries in the
evaluation of abusive head trauma. Pediatr Radiol 2014; 44: 839-845
*Jacob R, et al. MR imaging of the cervical Spine in nonaccidental trauma:
a tertiary institution experience. AJNR 2016; 37: 1944-1950

Desmoid fibromatosis
• Benign, non-inflammatory
fibroblastic tumors
• Pre-vertebral space most
common – trans-spatial
• Low signal bands on MRI
• Rim of surrounding fat
Ax T1
Ax FLAIR FS
*Rhim JH, et al. Desmoid-type fibromatosis in the head and neck: CT and MR
imaging characteristics. Neuroradiology 2013; 55: 351-359

Pyomyositis
• Primary bacterial infection of skeletal muscle
• Staphylococcus aureus
• Uncommon in neck
– May be complicated by osteomyelitis
– Epidural extension

Laura: Case 6
Courtesy of Judith Gadde DO, Tamara Feygin MD, Brian Harding DPhil, BMBCh
The Children’s Hospital of Philadelphia

9 year old boy with decreased & blurry vision.
Eye injury 3 years prior.
DWI ADC T1
Ax T1 Ax T1 post Ax T2

1. Hypothalamic glioma
2. Epidermoid cyst
3. Craniopharyngioma
4. Malignant teratoma
DWI

Epidermoid Cyst
• Most common congenital from ectodermal inclusion during
neural tube closure
• Can be acquired – postsurgical or posttraumatic
• 90% intradural
– 40-50% cerebellopontine angle
– 10-15% suprasellar cistern
– 17% fourth ventricle
• Restricted diffusion
ADCAx T1 post Ax T2

Ruptured Epidermoid Cyst
(& remote MCA infarct)
Sag T1 pre rupture Sag T1 post rupture
Ax T1 pre rupture Ax T1 post rupture

Hypothalamic glioma
• Low-grade and indolent
• No restricted diffusion
• Can metastasize
Sag T1 pre Sag T1 post Ax T2

Craniopharyngioma
• WHO grade I – usually adamantinomatous type in kids
• Single or multiple cysts
• Calcifications in 90%
• Thought to arise from Rathke cleft cells
Sag T1 Axial CT

Malignant Teratoma
• Intracranial germ cell tumor
• Usually heterogeneous with fat
• Increased serum alpha-fetoprotein
Sag T1 Ax T2

What island is shown in this picture?
1. Treasure Island, San Francisco
2. Palm Island, Dubai
3. Tom Sawyer Island, Disneyland
4. THUMS Islands, Long Beach

THUMS Islands, Long Beach
-4 artificial islands off the coast of Long beach
-Created in 1965 to tap into Wilmingtom Oil Field
-THUMS acronym for oil company consortium (Texaco, Humble, Union,
Mobil, Shell)
-Made of boulders from Catalina Island and landscaped to camouflage
the oil rigs

Michelle: Case 7
Courtesy of Aylin Tekes-Brady, MD
The Johns Hopkins Hospital

15-year old wheelchair-bound male with
seizures, dysarthria, spasticity and macrocephaly
T2

1. Congenital CMV infection
2. Megalencephalic
Leukodystrophy with Subcortical
Cysts (MLC)
3. Canavan disease
4. Alexander Disease
T2

Megalencephalic Leukodystrophy
with Subcortical Cysts (MLC)
• Aka Van der Knaap Disease
• Autosomal recessive leukodystrophy
• Mutations in MLC1 gene on
chromosome 22q13
• Early onset macrocephaly
• Delayed onset neurological
deterioration (ataxia, spasticity,
epilepsy)
• Pathology: Vacuolating myelinopathy
where outer layers of myelin sheaths
are separated, axons are spared
T2WI
T2WI
FLAIR

• Swollen gyri
• Bilateral symmetric T2 hyperintensity
due to lack of myelin
• Central white matter sparing especially
in corpus callosum and occipital lobes
• Subcortical cysts predominantly in
posterior frontal and temporal regions
• MRS: low NAA, low NAA/Cr
T2 FLAIR
10 year old with MLC
Megalencephalic Leukodystrophy
with Subcortical Cysts (MLC)

Congenital CMV Infection
• Most common congenital TORCH
infection
• 2nd to intra-uterine fetal infection
• Most affected newborns are
asymptomatic at birth
• CT: calcifications
• MRI:
• microcephaly and atrophy
• migration anomalies
• white matter abnormalities
• ventriculomegaly with adhesions
• delayed myelination
• parenchymal cysts (temporal
pole and periventricular)
T2WI

Canavan Disease
• Fatal autosomal recessive leukodystrophy
• Common in Ashkenazi Jewish community
• Deficiency of N-acetylaspartoacylase
(NAA-key enzyme in myelin synthesis)
• Accumulation of NAA in brain, plasma,
CSF and urine
• Spongiform WM degeneration
• Macrocephaly, blindness, severe mental
deficits
• MRI:
– White matter diffusely involved
– Subcortical white matter is
preferentially affected early – cysts
– May have globus pallidi and thalamus
affected with relative sparing of
putamen
– Cerebellar dentate nuclei
– Evolves to atrophy
T2

Alexander Disease
(Fibrinoid Leukodystrophy)
• Most cases sporadic
• Forms: Infantile, juvenile, adult onset
• GFAP genetic mutation
• Macrocephaly, progressive
quadriparesis, cognitive decline
• Imaging
– Extensive white matter changes
with frontal predominance
– Early subcortical white matter
changes
– Basal ganglia, thalami, brainstem
– Contrast enhancement (frontal
horns, brainstem)
– Periventricular rim: T1
hyperintensity, T2 hypointensity
T2

Bruno: Case 8
Courtesy of Andrea Poretti, MD

17 year-old woman with progressive gait ataxia,
dysmetria, dysarthria, and behavioral problems
T1 T2
FLAIR

1. Neurodegeneration in Langerhans
cell histiocytosis
2. Alexander disease
3. Krabbe disease
4. Acute necrotizing encephalopathy FLAIR

Neurodegeneration in Langerhans cell
histiocytosis (LCH)
• Second most common primary brain involvement in LCH
after infiltration of the pituitary/ hypothalamic region
• Clinical: cerebellar motor syndrome, behavioral
problems, cognitive decline
• Neuroimaging: Symmetrical, non-enhancing, T2/FLAIR-
hyperintense signal in the cerebellum (peduncles, hilum
of the dentate nuclei) and brainstem, progressive
cerebellar atrophy
FLAIR
Sag T1

Neurodegeneration in LCH
FLAIRT2

Alexander disease
• Rare fatal leukodystrophy that becomes
evident in infancy
• Infant, childhood, adult onset forms
• Sporadic; genetic mutation of GFAP
• Begins in the frontal region and extends
posteriorly
• Symmetric hyperintensity in WM and
GM
• Can enhance
T2-FSE
T1 +C

Alexander disease
T2-FSE FLAIR T1 +C

Krabbe disease
• Autosomal recessive
leukodystrophy; mutation
of GALC gene
• Deposition of globoid cells
and psychosine
• Periventricular T2
hyperintensity that
progresses to subcortical U
fibers
• T1 hyperintense and T2
hypointense BG and
thalami
• Peripheral and cranial
nerve enlargement and C+
Ax T2 Ax T2
Ax T2
Ax FLAIR
Ax FLAIR Sag T1

Acute necrotizing encephalopathy
• Affects infants and children
• Etiology and pathogenesis unknown
• Symmetric lesions in putamina, thalami, brainstem tegmentum,
cerebral/cerebellar WM
• Hemorrhagic and cavitary lesions

Which famous scientist was born at
midnight during a lightning storm?
1. Thomas Edison
2. Nikola Tesla
3. Benjamin Franklin
4. Victor Frankenstein

-Born at midnight between July 9 and July 10, 1856 during a fierce
lightning storm.
-The midwife declared “This child will be a child of darkness”
-Mrs. Tesla responded “No. He will be a child of light.”
-Nikola Tesla went on to discover the alternating electrical current.

Tim: Case 9
Courtesy of Timothy N. Booth, MD
Children’s Health Dallas, UT Southwestern

3 day old with tongue mass
Axial CE CT Neck

Sag T1 Sag T1 post Cor STIR
3 day old with tongue mass

Then found…
Multiple additional soft tissue masses lower
back
Ultrasound

1. Neurofibromatosis type 1
2. Infantile myofibromatosis
3. Infantile fibrosarcoma
4. Infantile hemangiomas
Axial CE CT Neck

Infantile myofibromatosis
• Mesenchymal disorder,
proliferation of fibrous tumors
• Solitary or multiple, visceral
involvement
• Spontaneous regression without
visceral involvement
• Imaging
– US – variable appearance
(anechoic center common)
– CT – peripheral enhancement,
Ca++, erosion
– MR – peripheral enhancement
*Holzer-Fruehwald L, et al. Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement.
Neuroradiology. 2012;54:1389–1398
*Koujok K, et al. Myofibromatosis: imaging characteristics. Pediatr Radiol 2005;35:374–380
Sag T1 post

Plexiform neurofibromas
• Neurofibromatosis type I
• Imaging
– Hyperintense on T2WIs
– Central decreased signal
on T2WIs
– Associated with acute
kyphoscoliosis in
cervicothoracic region
Ax T2 FS

Infantile hemangiomas
• True neoplasm, glut 1
positive
• Multiple or bearded
distribution
• Imaging
– Extremely high signal on
T2WIs
– Intense and rapid
enhancement
• PHACES syndrome
– MRA needed
Ax T2 FS
Ax T1 C+ FS

Infantile fibrosarcoma
• Include in DDX of a ST
mass in the infant
• Extremities, paraspinal,
abdomen, and SCM
• Non-specific imaging
• Characteristic FISH
– Translocation t(12;15)
• Good prognosis
Ax T2 FS
Ax T1
*Ainsworth KE, et al. Congenital infantile fibrosarcoma: review of imaging features.
Pediatr Radiol 2013; 44: 1124-1129

Laura: Case 10
Courtesy of Margaret Cupit-Link, BS & Amulya Nageswara Rao, MD
Mayo Clinic Children’s Center

16 year old with history of concussion
followed by headaches
(“pressure” at the back of the head)
T1 Ax Gad T2 Ax Gad T2 Ax Flair

Ax GREADC DWI
T1 Coronal Gad T2 Ax Gad

1. Ependymoma
2. Choroid plexus papilloma
3. Choroid plexus xanthogranuloma
4. Meningioma
T1 Coronal Gad

Choroid Plexus Xanthogranuloma
• Benign tumor composed of xanthoma cells (macrophages),
cholesterol clefts, chronic inflammatory cellular reaction, and
hemosiderin
• Usually seen bilaterally in lateral ventricles
• Iso-hyperintense on T2 because of high lipids
• Bright on T2 FLAIR
• Variable enhancement
T1 Ax Gad T2 Ax Gad T2 Ax Flair

T1 Ax Gad T2 FAT SAT DWIADC
Ependymoma
• 1/3 supratentorial, predominantly extraventricular
• If intraventricular, trigonal region or body of lateral ventricle
• Often associated with cyst
• Heterogeneous T1, T2, and enhancement
• Frequently calcified

• Most common trigonal mass in kids, usually under 5 years
• Benign, arise from epithelium of choroid plexus
• Hydrocephalus from overproduction or obstruction
• Homogenously enhancing, cauliflower-like lesions
• 5-10% degenerate into carcinoma, then restrict diffusion
T1 Ax Gad T2 Ax Gad DWIADC
Choroid plexus papilloma

T1 Ax Gad T2 Ax Gad
Intraventricular meningioma
• Rare tumors with male preponderance
• Arise from arachnoid cap cells in choroid plexus
• Iso-hypointense on T1 with intense enhancement
• Massive blood loss can occur during surgery

Where was the 1st Annual ASNR
Scientific meeting held?
1. Long Beach, CA
2. Mexico City, Mexico
3. Montreal, Canada
4. New York, NY

First Annual ASNR Meeting
October 7, 1963
Queen Elizabeth Hotel

Michelle: Case 11
Courtesy of Aaron McAllister, MD

15-year-old male with osteosarcoma undergoing
chemotherapy. Presents with acute onset left arm
and face weakness.
FLAIR T1WI + TRACE ADC
SWI

1. Methotrexate-induced Acute
Toxic Leukoencephalopathy
2. Charcot Marie Tooth Disease
3. Tumefactive Demyelination
4. Venous infarct
FLAIR
ADC

Methotrexate-Induced Acute Toxic Leukoencephalopathy
• High-dose IV and intrathecal (IT) MTX
• Acute stroke-like symptoms
• Onset 2 wks for IT route, longer for IV route
• Rapid clinical recovery < 1 week
• Pathophysiology largely unknown
• Imaging:
– Non-enhancing increased ↑FLAIR/T2 signal
– Restricted DWI in centrum semiovale
(unilateral/bilateral; symmetric/asymmetric);
often reversible
– May show splenial signal abnormality
Trace
3 months post treatment
8 months later 14 months later
High-dose intrathecal methotrexate
for Primary CNS Lymphoma
ADCTrace
Trace Trace

Charcot Marie Tooth Disease
T1WI + FLAIR
Trace Trace
• Hereditary sensorimotor neuropathy
• Most common inherited neuromuscular
disorder
• AD, AR and X-linked CMTX1 mutation of
GJB1 gene
• CNS involvement presents with stroke-like
symptoms
• Imaging:
– Transient restricted DWI in posterior
cerebral white matter, splenium,
posterior limb of the internal capsule
– ? Myelin vacuolation
17 year old male with CMTX1 mutation

Tumefactive Demyelination
• Locally aggressive form of demyelination
• Usually solitary lesion > 2 cm
• Mimics neoplasm
• Solitary tumefactive lesions may progress to
MS
• Imaging:
– Little mass effect or edema
– Incomplete ring enhancement (gray
matter side of the lesion)
– Central vascularity
– Increased ADC
– Mean rCBV lower than high-grade
gliomas
Trace ADC
FLAIR T1WI +

Venous Infarct
• Less common cause of cerebral infarction
• 2nd to venous thrombosis and increased venous
pressure
• Common underling conditions in children:
– Regional infection: sinusitis/mastoiditis
– Trauma
– Oral contraceptives
– Hypercoagulable states: eg protein S and C
deficiencies
• Imaging:
– Vasogenic and/or cytoxic edema
– Hemorrhagic transformation common
– Occasional enhancement: gyral , may have
some white matter extension
FLAIR T2WI
TRACE SWI
MRV T1WI +

Bruno: Case 12
Courtesy of Beth M. Kline-Fath, MD

15 year-old young man refusing to bear weight
Axial T2
Sagittal T2 Sagittal T1 post contrast
Axial post contrast T1

1. Neuromyelitis Optica
2. West Nile Virus Myelitis
3. Lupus Myelitis
4. Human Metapneumovirus
Myelitis
Ax T2

1. Neuromyelitis Optica
2. West Nile Virus Myelitis
3. Lupus Myelitis
4. Human Metapneumovirus
Myelitis
AxT2

West Nile Virus Myelitis
• West Nile Virus is a flavivirus
transmitted by mosquitos
• Subset of patients demonstrate
rapid progressive motor deficit
and preservation of sensory
function in the presence of flu-
like symptoms
• MRI shows preferential
inflammation of the anterior
gray matter of the spinal cord
Our case *Greg K et al. AJNR 2005;26:26-
29

Neuromyelitis Optica (NMO)
• Longitudinal myelitis
• Optic neuritis
• Positive NMO-IgG which
targets transmembrane
Aquaporin 4 channels
Ax T2
Sag T2 Sag T1 C+

Lupus Myelitis
• Rapid onset severe
neurological deficit
• Clinical and laboratory
evidence of active SLE
• Poor prognosis
• Thought to have a
thrombotic/ischemic
etiology
Sag T2 Sag T1 C+

Human Metapneumovirus (HMPV) Myelitis
• Paramyxovirus
• Established pathogen in
respiratory tract Sag T1 C+Sag T2
Axial T2

What anatomic structure is the arrow
pointing to?
1. Psalterium
2. Ammon’s horn
3. Indusium griseum
4. Cingulate gyrus

-Described by Giovanni Maria Lancisi (1654-1720) in
his book “Dissertation on the seat of the soul”
-Paired dorsal continuation of the hippocampus
-Part of the limbic system, best seen on 7T
High-Field, High-Resolution MR Imaging of the
Human Indusium Griseum. Nakada, T. AJNR;
1999, 20 (3) 524-525

Tim: Case 13
Lillian Lai, University of Southern California, Los Angeles

7 month old with fever and lumbar dimple
Post-gad T1 FST2 DWI

Post-gad T1 FS
7 month old with fever and lumbar dimple

1. Lipomyelomeningocele
2. Myxopapillary ependymoma
3. Dorsal dermal sinus with
epidural abscess
4. Limited dorsal myeloschisis
Sag T1 C+ FS

Dorsal dermal sinus with epidural abscess
• Midline/para midline SQ sinus tract
• Anywhere along neuraxis, most commonly
lumbosacral
• Terminates SQ, epidural, intradural or
intramedullary
• Associated with epidermoid/dermoid, tethered
cord, lipoma, split cord
• Treatment – excision, dural exploration

Limited dorsal myeloschisis
• Crater
• No infectious complications
• Tract highly visible, always
attached to cord
• Dorsal tenting
*Lee SM, et al. Limited dorsal myeloschisis and congenital dermal sinus: comparison of clinical and
MR imaging features. AJNR 2017; 38: 176-182

• Conus/filum
• Vertebral scalloping
• Canal enlargement
• +/- Hemorrhage
*Korsvik HE et al. Sonography of occult dysraphism in neonates and infants with MR imaging correlation. Radiographics 1992; 12: 297-306
*Friedman DP et al. Neuroradiology case of the day. Myxopapillary ependymoma of the conus medullaris or filum terminale resulting in superficial
siderosis and dissemination of tumor along CSF pathways. Radiographics 1998; 18: 794-798.
Myxopapillary ependymoma
Sag T2 FS Sag T1 C+ FS

Lipomeningomyelocele
• SQ fatty mass
• Low lying conus
• Neural placode posterior to
dysraphic defect
• Neural placode within the
canal = lipomyelocele
*Korsvik HE, et al. Sonography of occult dysraphism in neonates and infants with MR imaging correlation. Radiographics 1992, 12(2), 297-306
Sag T1

Laura: Case 14
Courtesy of Igor Pronin, PhD
Burdenko National Center of Neurosurgery
Moscow, Russia

5 year old boy with headache, vertigo, ICH,
multiple palmar or plantar pits, & bifid ribs
T2WI T1WI+ Gd DWI

1. Sturge-Weber syndrome
2. von Hippel-Lindau disease
3. Gorlin syndrome
4. COLD syndrome
T1WI+ Gd

Gorlin syndrome with associated
nodular medulloblastoma
• AKA Nevoid basal-cell carcinoma syndrome
(NBCCS), Basal-cell nevus syndrome, Multiple
basal-cell carcinoma syndrome, Gorlin–Goltz
syndrome
• Autosomal dominant
• 1 case per 56K-164K
• Unusual facial appearance
• Involves skin, CNS, eyes, endocrine, bones
• Medulloblastoma with extensive nodularity in
a child less than 2 years of age is one of the
main dx criteria of Gorlin Syndrome

COLD syndrome
(Cowden-Lhermitte-Duclos)
• Lhermitte-Duclos (dysplastic cerebellar
gangliocytoma)
• Hamartoma-like polyps GI tract
• Involvement of skin and mucosa
• High risk of cancer such as breast cancer
Delannoy, Pauline, et al. "How to recognize Cowden
syndrome: A novel PTEN mutation description." Annales
d'Endocrinologie. Elsevier Masson, 2017.T2WI T1WI+Gd

Sturge-Weber syndrome
(Encephalo-trigeminal angiomatosis)
• Capillary malformation
of skin in trigeminal
nerve distribution
• Retinal choroidal
angioma
• Cerebral capillary-
venous leptomeningeal
angioma
*Burdenko National Center of neurosurgery, Moscow, Russia
CT T2 T1
SWI T1 C+T1 C+

Von Hippel-Lindau disease
(Cerebello-retinal angiomatosis)
• Retinal and CNS hemangioblastomas
• Endolymphatic sac tumors
• Abdominal neoplasms (adrenal pheochromocytomas, clear
cell renal carcinomas, pancreatic and renal cysts)
*Burdenko National Center of
Neurosurgery, Moscow, Russia
CT CT C+ T2 GRE
Angio

Which part of the brain is activated by
“Likes” on social media?
1. Hippocampus
2. Angular gyrus
3. Postcentral gyrus
4. Nucleus accumbens

Sherman, et al. The power of the “like” in adolescence:
Effects of peer influence on neural and behavioral
responses to social media. Psychological science 27.7
(2016): 1027-1035.
-Nucleus accumbens: cognitive processing of aversion, motivation, reward
-The same brain circuits that are activated by eating chocolate and winning
money are activated with large numbers of “likes”

Michelle: Case 15
Courtesy of Alexis Crawley, MD and Hisham Dahmoush, MD
Stanford University

5-month-old girl with
irritability, dystonic posturing and seizures
T2WI T2WI
T2WIT1WI+
T1WI+
NCCT
T2WI

1. Meningitis
2. Krabbe Disease
3. Miller Fisher Syndrome
4. Chronic inflammatory
demyelinating
polyneuropathy (CIDP)
T2WI
T1WI+

Krabbe Disease
(Globoid cell leukodystrophy)
• Autosomal-recessive
• Mutation of GALC gene deficiency of
galactocerebroside ß-galactosidase that
degrades cerebroside)
• Intracellular accumulation of
galactocerebroside results in globoid cell
formation
• Early infantile, late infantile, and adult forms
• Imaging:
• CT: hyperdense thalami, caudate, and corona
radiata
• T2 hyperintensity in periventricular WM,
centrum semiovale, deep gray, cerebellum
• Corresponding T2 hypointensity
• Progressive cerebral atrophy
• May have cranial and spinal nerve
enhancement with or without enlargement
T2WI

Miller Fisher Syndrome
• Variant of Guillain–Barré syndrome
• Rapidly progressive inflammatory,
demyelinating polyradiculopathy
• Triad of ophthalmoplegia (usually CNs 3 and
6), ataxia, and areflexia
• Often preceded by respiratory/GI infection
• Genetic predisposition: Ab to GQ1b
ganglioside often present
• Imaging
– Thickening/enhancement of cauda
equina (usually anterior but can be
posterior)
– Cranial nerve enhancement
T1 C+
T1 C+ T1 C+
T2

Chronic Inflammatory
Demyelinating Polyneuropathy (CIDP)
• Chronic counterpart to Guillain–Barré syndrome
• Acquired immune-mediated sensorimotor
demyelinating polyneuropathy
• Nerves show repeated segmental demyelination
and remyelination with proliferation of Schwann
cells and deposition of collagen
• Can involve peripheral nerves, spinal nerve roots,
and CNs
• Imaging:
– Peripheral and CN nerve thickening and
enhancement (“onion bulbs”)
Ax T1C+
Ax T1C+
Ax T1C+
Ax T2

Neurofibromatosis II
• Neurocutaneous disorder
• 50% autosomal dominant inheritance
and 50% de novo mutation
• Mutation of the NF2 gene, which
produces merlin (aka schwannomin), a
tumor suppressor, on the long arm of
chromosome 22
• Tumors: Intracranial schwannomas,
meningiomas, ependymomas
• Bilateral vestibular schwannomas are
diagnostic of NF2
Ax T1 C+
Ax T1 C+
Sag T1 C+
Ax T2

Bruno: Case 16
Courtesy of Andrea Poretti, MD
The Johns Hopkins Hospital and
Gabriela de la Vega, MD, Gaurav Saigal, MD
University of Miami

5 day-old neonate with neonatal seizures,
severe hypotonia, absent suck reflex
CT

Prenatal US at 23 weeks of gestational age following
abnormal test results on prenatal screening. Mother
reports a mild viral illness in her first trimester.
Prenatal US

CT and MRI performed shortly after birth
T2
CT T1

1. Congenital cytomegalovirus
infection
2. Aicardi-Goutières Syndrome
3. Congenital rubella infection
4. Congenital Zika Syndrome
CT
T2

Congenital Zika Syndrome
• Arbovirus of flavivirus family
– commonly spread by Aedes aegypti mosquito
• 51 countries reported ZIKV transmission
– WHO: “Public Health emergency of international concern”
• Primary infection: typically mild viral illness
• Crosses the placenta, neurotropism
• Pregnant women suspected to have been exposed to ZIKV now
screened for IgM or via PCR in serum and urine
• Newborn signs and symptoms: congenital microcephaly, seizures,
hypotonia, poor suck reflex, poor eye contact

Congenital Zika Syndrome
• Neuroimaging:
– intracranial calcifications (mostly at the gray-matter junction)
– ventriculomegaly
– abnormal gyral pattern (mostly polymicrogyria)
– thinning of the corpus callosum
– abnormal myelination
– cerebellar or vermis hypoplasia
*Hazin AN, Poretti A, et al, NEJM, 2016
CT

Congenital CMV
• Most common cause of
intra-uterine infection
• DNA virus in the herpes
virus family
• Calcifications,
microcephaly, migration
anomalies, WM lesions
*Nickerson JP, Poretti A, Huisman TA et al, J Neuroimaging, 2012
CT
T2

Aicardi-Goutières Syndrome
• Inherited leukodystrophy with calcifying
microangiopathy and leukodystrophy
• Genetic mutation of TREX1 etc.
• Swollen gyri followed by atrophy
3 months 21 months
CT T2

Congenital rubella infection
• Extremely rare in Western world
• The outcome of the congenital infection is related to the
timing of infection during gestation
• T2 hyperintense periventricular lesions
• Calcifications
• Develop temporal lobe atrophy
CT T2
*Nickerson JP, Poretti A, Huisman TA et al, J Neuroimaging, 2012

Will the real Donald Trump please
stand up?
1.
3. 4.
2.

The Troll Doll
The Golden Pheasant
The Donald The Furry Peruvian Caterpillar
1.
3. 4.
2.

Tim: Case 17
Prakash Muthusami, MD and Manohar Shroff, MD
The Hospital for Sick Children
Toronto, Canada

15 year old pedestrian struck by vehicle
Liver laceration on CECT
Axial CECT head, soft tissue and bone windows at skull base

CTA – Neck and Intracranial
Axial, mid skull base
Sagittal MIP, LICACoronal MIP, intracranial

1. ICA dissection with thrombosis
2. Post traumatic vasospasm
3. ICA agenesis/hypoplasia
4. Extrinsic compression by hematoma
Axial, mid skull base

Segmental ICA agenesis
(cavernous/trigeminal segment)
Lateral projection Submentovertical
projection
Frontal projection
Angiogram 3 days after CTA (LICA injection)

Intra-orbital ophthalmic
artery
Reconstituted terminal ICA
(embryological segment 7)
Dorsal ophthalmic artery
Rete mirabile from inferolateral
trunk
Missing
cavernous
segment
(embryological
segment 6)

• ICA embryologically develops in
7 segments from the dorsal
aorta
• Segments are defined as being in
between embryonic vessels
• “Trigeminal” or cavernous
segment, i.e segment 6, is
between the (embryonic) dorsal
ophthalmic artery and the
(eventual) ophthalmic artery
*Lasjaunias P, et al. Segmental agenesis of the internal carotid artery: angiographic aspects with
embryological discussion. Anat Clin 1984; 6: 133-141
Radiology Key. Amish H. Doshi, Amit
Aggarwal, Aman B. Patel

Segmental ICA agenesis – CT clues
Non-tapered circumferential
cervical ICA narrowing
Small bony petrous carotid canal
Ophthalmic reconstitution of ICA

Blunt cerebrovascular injury
 Grades
• I – wall irregularity, <25% luminal stenosis
• II – Intraluminal thrombus or flap, >25%
• III – pseudoaneurysm
• IV – occlusion
• V – transection or AV fistula
 Associated with risk of CV ischemic event
Snowboarding
*Liang T, et al, Imaging of blunt vascular neck injuries: a clinical perspective. AJR 2013; 201: 893-901
MVC

Laura: Case 18
Courtesy of Julia Pavaine, MD
Royal Manchester Children’s Hospital
Manchester, UK

FLAIR CorT2ADC
Sag T1 T1 C+
17 year old girl with seizure for 4 years. No
change on MR monitoring.

1. Herpes encephalitis
2. Cortical-subcortical
ependymoma
3. Dysembryoplastic neuroepithelial
tumor (DNET)
4. Focal Cortical Dysplasia (FCD)
FLAIR
T1 C+

Cortical-subcortical ependymoma
• Rare, low-grade tumor
• May arise from embryonal rests of ependymal tissue
• Frequently present with seizures
• Typically ependymomas are not infiltrative
• In this case, histopathology showed infiltration into surrounding brain
parenchyma
– Lehman NL et al. published 6 supratentorial ependymoma cases, all
demonstrated invasion within cortex and/or subcortical white matter
*Lehman, Norman L., et al. "Cortical ependymoma." Pediatric neurosurgery 39.1 (2003): 50-54.
FLAIR T1 C+

Don’t discount benign looking lesions
FLAIR
FLAIR
T1 C+
T1 C+
2006
Read as FCD
2016
WHO Grade III Glioma

Herpes Encephalitis
• Cortical/subcortical encephalomalacia
• Usually multifocal
• Hemosiderin staining
Sag T1 SWI Cor T2

DNET
• Low-grade, bubbly-appearing lesion from the
cortical white matter
• 65% in temporal lobe
• Enhancement 20-30%
Ax T2 Ax T1 C+ Cor FLAIR

Focal Cortical Dysplasia
• Cortical thickening & blurring of grey-white junction
• T2 hyperintensity white matter
• Blumcke classification- 3 types
– Type III assoc with glioneuronal tumors
3D FLAIR

At what age does the brain reach full
maturity?
1. Age 16, when we are allowed to drive
2. Age 18, when we are allowed to vote
3. Age 21, when we are allowed to drink
4. Age 25, when we are allowed to rent a car

-Mature adult brains process information with the
prefrontal cortex
(the brain’s rational and good judgment part)
-Teen and immature adult brains process
information with the amygdala
(the emotional part)

Michelle: Case 19
Courtesy of Elizabeth Weidman, MD and Arzu Kovanlikaya, MD
NYP-Weill Cornell Medical Center

8-day-old ex-35 week female with severe
lactic acidosis and prenatal diagnosis of ventriculomegaly
MRS TR = 1,500 TE = 288
T2-FLAIR T2WIT2WI
T2WI

1. Aqueductal stenosis
2. Periventricular Leukomalacia
3. Post-intraventricular
hemorrhagic hydrocephalus
4. Pyruvate Dehydrogenase
Deficiency
T2-FLAIR
T2WI

Pyruvate Dehydrogenase Deficiency
• Congenital absence of pyruvate dehydrogenase
(PDH) enzyme; mutations in PDHA1 gene
• Common cause of primary congenital lactic acidosis
• Symptoms usually shortly after birth: vomiting,
respiratory symptoms, cardiac arrhythmias
• Phenotype more severe in females than males
• Imaging:
• Ventriculomegaly (sparing of the 4th ventricle)
and septations
• Severe white matter loss and cortical atrophy
• Subependymal cysts
• Agenesis of corpus callosum; Small pons
• MRS: Elevated lactate peak
*Ah Mew N, et al : MRI Features of 4 Female Patients
with Pyruvate Dehydrogenase E1 alpha Deficiency.
Pediatr Neurol: 57-50, 2011

Periventricular Leukomalacia
• Hypoxic ischemic injury in watershed areas (periventricular in
premature infants)
• Large necrotic lesions cavitate and become cysts; Small
necrotic lesions form small cysts that collapse into glial scars
• Incidence of cystic PVL significantly declined due to improved
perinatal care
• Imaging:
• Ventriculomegaly with thinning of corpus callosum
– Volume loss of periventricular WM and posterior centrum
semiovale
– Irregular margins of lateral ventricles
– T2 hyperintensity in affected white matter
– Cystic encephalomalacia
T2

Aqueductal Stenosis
• Most common cause of congenital
obstructive hydrocephalus
• Primary forms: stenosis, forking,
septum, gliosis of the aqueduct
• Inherited forms: X-linked recessive
hydrocephalus (hydrocephalus, mental
retardation, spastic paraparesis, and
adducted thumbs)
• Imaging:
– Obstructive hydrocephalus involving
the lateral and 3rd ventricles,
sparing of the 4th
– Aqueduct may show funneling
superiorly or inferiorly
T1 T2
T2T2

Perinatal Post-IVH Hydrocephalus
• Germinal matrix–IVH is one of the most commonly
diagnosed brain abnormalities in preterm infants
– +/- 15%–20% of infants who weigh less than 1500 g at
birth will develop IVH
– Small percentage will require permanent CSF diversion
– Severe IVH is an independent risk factor for CP
• Imaging
– Ventriculomegaly
– Adhesions and encystment
– Hemosiderin staining of ependyma/choroid plexus
Twin gestation born at 23 weeks
T2WI
SWI

Bruno: Case 20
Courtesy of Thierry A.G.M. Huisman, MD and Andrea Poretti, MD

11 mos-old boy with history of fever, flaccidity, decreased
responsiveness. CSF exam 155 white blood cells, normal glucose
Now bilateral ptosis, tongue fasciculations.
T1
T2

1. Osmotic myelinolysis
2. Anti-NMDA receptor encephalitis
3. Wernicke encephalopathy
4. Enterovirus rhombencephalitis
T1
T2

*Zeng H, Wen F, Huang W, Gan Y, Zeng W, et al. (2016) New Findings, Classification and Long-Term Follow-Up Study Based on
MRI Characterization of Brainstem Encephalitis Induced by Enterovirus 71. PLOS ONE 11(10): e0162877.
Enterovirus rhombencephalitis

*Zeng H, Wen F, Huang W, Gan Y, Zeng W, et al. (2016) New Findings, Classification and Long-Term Follow-Up Study Based on
MRI Characterization of Brainstem Encephalitis Induced by Enterovirus 71. PLOS ONE 11(10): e0162877.
• Enterovirus 71
• Outbreaks in Taiwan and
southern China
• Extremely high morbidity in
children younger than 3
• Maculopapular rash and blister
in hand, foot and mouth
• Myoclonus, tremor and ataxia
• Cardiorespiratory compromise
due to brainstem involvement

• Manifestations of polio like encephalitis and acute flaccid
paralysis
• Enterovirus encephalomyelitis has characteristic lesion
locations in the posterior portions of the brain stem,
substantia nigra, and dentate nucleus
T1 T2 T2

Osmotic myelinolysis
• Oligodendroglial cells most susceptible to osmotic stresses (distribution of osmotic
myelinolysis, parallels the distribution of these cells)
• Characterized by intramyelinitic splitting, vacuolization and myelin sheath rupture
• Early DWI restriction lower pons
• Eventual high T2 signal and later low T1 signal lesion
• Lesion has a classic trident shaped appearance
• Occasional gadolinium enhancement
T2 FLAIR T1 C+ ADC

Anti-NMDA receptor encephalitis
• Autoimmune encephalitis with antibodies against the NMDA receptors
• Usually affects young patients particularly young females
• In about 60% a teratoma is present.
• Patients present with psychiatric symptoms but eventually develop
seizures or movement abnormalities.
• T2 hyperintensity limbic distribution
• FDG-PET can show hyper- or hypo-metabolism
*Soares BP et al, Neuropediatrics, 2017

Wernicke encephalopathy
• Results from B1
(thiamine) deficiency
• FLAIR hyper-
intensities in the
periaqueductal
region, dorsal brain
stem, medial thalami
surrounding the third
ventricle
• Mammillary bodies
involved

What was the name of the Queen
Mary changed to when it transitioned
from cruise ship to troopship in WWII?
1. The Black Pearl
2. The Grey Ghost
3. The Thistle
4. The Santa Maria

The Queen Mary
1936
The Grey Ghost
1940

Tim: Case 21
N. Booth, Children’s Health Dallas, UT Southwestern

Newborn with respiratory distress
Sag T1 Sag T2

Ax T1 Ax post T1 FS
Newborn with respiratory distress

1. Pharyngeal hairy polyp
2. Neonatal cervical teratoma
3. Transphenoidal
encephalocele
4. Retropharyngeal
neuroblastoma
Sag T2

Pharyngeal hairy polyp
• Uncommon developmental
malformations of the
oropharynx (not neoplastic)
• 2 germinal layers (ectoderm
and mesoderm)
• May auto-amputate
• T1 shortening and lack of
enhancement key
– Except for fibrous core
*Kraft JK et al. US and MRI of a pharyngeal hairy polyp with pathological correlation. Pediatr Radiol 2011; 41: 1208-1211
*Unal S et al. Autoamputation of a pharyngeal hairy polyp in a neonate with intermittent respiratory distress. Int J Ped Otorhinolaryngol 2008; 3:
90-93
Sag T2

Transphenoidal encephalocele
• Persistent craniopharyngeal canal
– Type 1 (<1mm) = incidental
– Type 2 = ectopic adenohypophysis
– Type 3 (6-10mm) = cephalocele or
tumor
*Abele TA, et al. Craniopharyngeal canal and its spectrum of pathology. AJNR 2014; 35: 772-777
Sag T1
Sag T2

Retropharyngeal neuroblastoma
• Most common solid tumor in childhood
• Cervical location rare
• Stridor, respiratory distress, Horner
syndrome
*Okazaki T, et al. Retropharyngeal neuroblastoma in a neonate: case report and literature review. Pediatr Surg Int 2007; 23: 1023-1026
Sag T1 Sag T1 C+ FS Ax T2

Neonatal cervical teratoma
• In utero diagnosis, respiratory distress
• Large multicystic, enhancement
• T1 shortening not always found
• No fluid/fluid levels
*Green JS, et al. MRI in the assessment of a newborn with cervical teratoma. Pediatr Radiol 1998; 28: 709-710
Ax T2 FS Ax T1 Ax T1 C+ FS

Laura: Case 22
Courtesy of Michael Wien, MD
Rainbow Babies and Children’s Hospital, Cleveland, OH
and
Gesina Keating, MD, Mayo Clinic, Rochester, MN

9 month old with abnormal skin findings
and seizures
Axial T1Sagittal T1

2. Tuberous Sclerosis
3. Neurocutaneous Melanosis
4. Langerhans Cell Histiocytosis
Axial T1

Neurocutaneous Melanosis
• Phakomatosis associated with
multiple cutaneous melanocytic
nevi
• Melanotic deposits can seen
throughout CNS
• Tendency for leptomeningeal
deposition
• Neurologic complications include
hydrocephalus and seizures
• Risk for malignant transformation
of nevi (intracranial and skin)

Neurocutaneous Melanosis
Common locations for accumulation of melanotic cells:
anterior temporal lobe/amygdala, pons, cerebellum.
Axial T1

• Phakomatosis associated with CNS tumors
• Signal abnormalities hypointense on T1 and
hyperintense on T2WI.
• Enhancement low grade lesions.
FLAIR
Neurofibromatosis type 1
FLAIR

• Phakomatosis with skin, eyes, CNS, cardiac tumors
• Cortical/subcortical tubers low T1/high T2
• Enhancing SEN and SEGAs
Axial T2 Axial T1 C+
Tuberous Sclerosis

• T1 hypointense, enhancing lesions in white & deep grey
matter
• Pineal, hypothalamic-pituitary, choroid
• Mastoids and dura
Post C+ T1
Langerhans Cell Histiocytosis

Which condition below carries the
eponym Bourneville’s disease?
1. Tuberous sclerosis
3. Encephalotrigeminal angiomatosis
4. Histiocytosis X

Désiré-Magloire Bourneville
(1840-1909)
French pediatrician
He published a series of books
known as La Bibliothèque
Diabolique where he reviewed
cases of reported possession and
witchcraft in favor of scientific
explanations.

Michelle: Case 23
Courtesy of Miriam Peckham, MD and Gary Hedlund, DO
Primary Children’s Hospital, University of Utah

5-day-old male with midface hypoplasia
T2WI Sag CT ReformatFIESTA

1. Birth Trauma
2. Achondroplasia
3. Mucopolysaccharidosis
4. Vitamin K Deficiency
Embryopathy
Sag CT Reformat

• Causes:
– Genetic (many)
– Non-genetic: Hyperemesis
gravidarium, eating disorders,
warfarin use, GI malabsorption (IBD,
celiac disease, bariatric surgery)
• Imaging:
– midface hypoplasia (Binder-
phenotype)
– chondrodysplasia punctata (CDP)
• punctate calcifications within
cartilaginous structures
– cervical stenosis
Vitamin K Deficiency Embryopathy
*Elzbieta Jurkiewicz et al. Pol J Radiol 2013
CT
Sag T2

Birth trauma
• Birth-related cord trauma,
often underdiagnosed
• Usually upper C-cord or C-T
junction
• Associated with:
– mechanical repositioning
– breech presentation
– forceps extraction
• High mortality and poor
prognosis for survivors

Achondroplasia
• Autosomal dominant inherited form of
dwarfism
• Defect in endochondral bone formation
• Small skull base, small foramen magnum,
small vertebral bodies, short pedicles,
decreased interpeduncular distance
• Symptomatic spinal stenosis occurs at all
spinal levels
• Stenosis exacerbated by degenerative
spondylosis and ligamentum flavum
hypertrophy T2WI
11-month old with Achondroplasia

Mucopolysaccharidosis
T2WI
• Heterogeneous group of inherited lysosomal storage
disorders
• Most are autosomal recessive
• Excessive accumulation of mucopolysaccharides 2nd
to deficiencies in lysosomal hydrolases
• Accumulation of mucopolysaccharides
(glycosaminoglycans)
• Cervical Spine:
– spinal stenosis
– dural thickening
– odontoid dysplasia
– atlantoaxial instability
– cord compression

Bruno: Case 24
Courtesy of Sangam Kanekar, MD
Penn State
and
Gabriela de la Vega, MD, Gaurav Saigal, MD
University of Miami

2 day-old with poor feeding and lethargy
T2T1

2 day-old with poor feeding and lethargy
DWI

1 week-old baby boy with vomiting, acute
encephalopathy, followed by coma
T2
ADC
DWI

1 week-old baby boy with vomiting, acute
encephalopathy, followed by coma

1. Maple Syrup Urine Disease
2. Canavan Disease
3. Hypoxic Ischemic Injury
4. Vanishing White Matter
Disease
ADC
DWI

Maple Syrup Urine Disease
• Inherited disorder of branched-chain amino
acid (BCAA) metabolism
• Presenting in newborns with neurologic
deterioration, ketoacidosis and
hyperammonemia
• Typical marked DWI restriction of myelinated
WM tracts
• Patients in crisis may smell like maple syrup
(or burnt sugar)
• Outcome improved with strict dietary control
and aggressive treatment of metabolic crises
• Radiologist may be 1st to suggest diagnosis
T1
TRACE

Canavan Disease
• Spongiform leukodystrophy
• Megalencephaly
• Diffuse WM involvement
• Predilection for subcortical U-fibers
T1 T2

Canavan Disease
• Also targets Alzheimer Type II astrocytes in the gray
matter
• Characterized by increased NAA and high NAA:Cr
T2 MRS

Hypoxic Ischemic Injury (HII)
• Basal ganglia-thalamus pattern (full term injury)
• Ventrolateral thalami and posterior putamina
• Maximum DWI restriction 3-5 days post insult in BG
and corticospinal tracts
ADC T1 T2

Hypoxic Ischemic Injury (HII)
• Intense focal T1 hyperintensity in BG, thalami, and peri-
rolandic cortex
• Corresponding T2 hypointensity
• Diffuse T2 hyperintense BG/thalami with focal low
intensity
T2 T1 T1

Hypoxic Ischemic Brain Injury (HII)
• Migration of DWI restriction over time reflects early
Wallerian degeneration
T2 TRACE ADC

Vanishing White Matter Disease
• Onset early childhood or adolescence typically
• Clinical precedent of minor head trauma or infection
• Progressive course
• Edematous appearing WM on T2
T2T2 T2

Vanishing White Matter Disease
• WM dissolves over time replaced by near CSF intensity
fluid
• Strands of tissue on FLAIR
• No enhancement
• No DWI restriction
FLAIR
FLAIR T1 C+ TRACE

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The American Society of Pediatric Neuroradiology
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