Aunt Minnie

Pediatric Neurology

Rommel Oliveras
Case 1
16/F with recurrent headaches
Findings
• Caudal protrusion of cerebellar tonsils through the foramen magnum,
producing compression of the cervicomedullary junction.
• There is no evidence of a syrinx or hydrocephalus.

• Sergeant stripes sign

• Oblique direction of the cerebellar tonsillar folia
Diagnosis:
Chiari I malformation
• Cerebellar tonsillar protrusion below the foramen magnum in the
absence of an open spinal dysraphism or intracranial mass effect
• Normal-sized cerebellum in an underdeveloped posterior fossa
• Most common variant of the Chiari malformations
• Symptoms are proportional to the degree of descent
• MRI is the imaging modality of choice
• Treatment with posterior decompression is usually reserved for
symptomatic patients or those with syrinx.
Case 2
18/M with vertigo and occasional
headaches
Findings:
• Homogenously enhancing extra-axial left frontal mass with
surrounding edema in the displaced adjacent parenchyma
• Dural tail sign
• CSF cleft sign
• Homogenously enhancing bilateral cerebellopontine angle/ internal
auditory canal masses
• Ice cream cone sign = intracanalicular component (cone) + cerebellopontine
angle component (ice cream))
Diagnosis:
Neurofibromatosis type 2
• Autosomal dominant disorder affecting the nervous system
• Chromosome 22 mutation affecting the tumor suppressor gene
merlin (AKA schwannomin)
• Multiple, Inherited, Schwannomas, Meningiomas, Ependymomas
(MISME)
• No cure. Management is focused to alleviate symptoms (surgery,
radiation therapy, medications)
Case 3
11/F with seizures
 11/M with seizures

Fs FSE T1 C+ T2 SWI
Findings
• CT: Tram-track appearance of cortical and subcortical calcifications in
multiple left parietal gyri. No hemorrhage, mass effect, or midline
shift.
• MRI: Leptomeningeal contrast enhancement in multiple left parietal
and occipital gyri with associated T2 hypointensity and susceptibility,
as well as atrophy of the involved cortex.
Diagnosis:
Sturge-Weber Syndrome
• Encephalotrigeminal angiomatosis
• Sporadic neurocutaneous disorder characterized by facial port wine stains
and pial angiomas.
• The leptomeningeal hemangioma results in a vascular steal affecting the
subjacent cortex and white matter producing localized ischemia.
• Calcification of the atrophic cortex is thought to result from a combination
of gliosis in ischemic cortex and abnormal vessels (Wu et al., 2011)
• Treatment
• Seizure control
• Surgical resection in refractory cases
References
• Klein et al. (2019). Brant and Helm’s Fundamentals of Diagnostic Radiology
5th Ed. Lippincott Williams & Wilkins. China.
• Wu J, Tarabishy B, Hu J, et al. Cortical calcification in Sturge-Weber Syndrome
on MRI-SWI: relation to brain perfusion status and seizure severity. J Magn
Reson Imaging. 2011;34(4):791–798. doi:10.1002/jmri.22687
• Auntminnie.com
• Chiari I malformation; Neurofibromatosis I; Sturge-Weber syndrome
• Radiopaedia.org
• Chiari I malformation; Neurofibromatosis I; Sturge-Weber syndrome
• https://www.neuroradiologyu.com/case-28 (Sturge-Weber syndrome)