Guerin, Julie

Aberrant internal carotid artery (ICA) is a vascular anomaly in which a segment of the ICA courses through the middle ear. The association of aberrant ICAs and pseudoaneurysm formation is not well known and can be an important finding to recognize on imaging. In this series, we present three cases of aberrant ICAs having asymmetric contour deformities consistent with pseudoaneurysms diagnosed utilizing CT of the temporal bone.

Objective Dermoid cyst (DC) is a congenital cyst with the potential to have intracranial extension (ICE). This study aims to evaluate the imaging yield and surgical outcomes of nasal, medial brow, forehead, and scalp DCs. Design Retrospective review of craniofacial DCs treated at our institution between 1992 and 2024. Results A total of 117 patients (57 females) were included. The median age at cyst detection and removal were 4.8 months (IQR 3.6-9.6) and 1.8 years (IQR 0.9-5.3), respectively. In 42 patients, parents have noticed the presence of the cyst immediately after birth. Cyst wall rupture during surgical removal was reported in 15.4%. The median follow-up time was 1.3 months (IQR 0.5-12.2). Three patients experienced recurrence. No postoperative complication was reported. The regions with the highest prevalence of ICE were the forehead, frontotemporal scalp, and nasal region. The lateral frontal/temporal scalp had a 33.3% rate of ICE. Midline forehead/scalp lesions demonstrated a higher risk of ICE compared to their lateral equivalents (54.5% vs 17.5%, P = .03). The sensitivity and specificity of magnetic resonance imaging (MRI) were 100% and 95.7%, while for computed tomography (CT scans) were 72.7% and 96.5%. The Area Under the Curve for MRI was 0.978, and for CT was 0.846. The sensitivity and specificity of ultrasound were 50% and 100%. Conclusions Midline forehead/scalp DCs are more prone to extend intracranially than lateral DCs. MRI had a higher sensitivity and specificity than CT scans in detecting ICE. Routine screening imaging should be considered in midline forehead/scalp, lateral frontal/temporal, and nasal DCs.

The locally aggressive nature and high recurrence rate of dermatofibrosarcoma protuberans (DFSP) make it challenging to manage, especially when present on the scalp, owing to its ability to invade the underlying periosteum, bone, dura, or brain. Preoperative imaging is used to plan resection, but the true correlation between periosteal or osseous changes on imaging and the presence of tumor within the periosteum is unclear. We present our institutional experience of managing DFSP of the scalp with emphasis on the imaging used. A retrospective review of 33 patients with DFSP of the scalp treated at a tertiary center was conducted. Data on demographics, tumor characteristics, preoperative imaging (magnetic resonance imaging or computed tomography), and surgical outcomes were analyzed. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of each imaging modality were calculated. Patients underwent surgical resection at a mean age of 37.11 years and had a median follow-up of 28.34 months. Preoperative imaging was available for 26 patients (CT only: 5, MRI only: 12, CT and MRI: 9). Calvarial abnormalities were seen in 3 patients. Treatment included Mohs surgery (66.7%) and wide local excision (33.3%). In 10 patients with positive periosteal margins, bone involvement was managed by burring (7) or craniectomy (3). The sensitivity and PPV of CT for periosteal margin positivity were 25% and 100%, and for MRI were 33% and 100%, respectively. The specificity and NPV were 100% and 50% for CT, and 100% and 66% for MRI. Preoperative CT and MRI have low sensitivity and NPV but high specificity and PPV in determining depth of involvement and are essential to guiding reconstruction in DFSP of the scalp.

Purpose To document the association of CAD-related disorder (EIEE-50) with cortical visual impairment. Observations An 8-month-old Caucasian boy with whole genome sequencing confirming 2 variants in the gene CAD, who presented with severe seizures, microcephaly, hyperreflexia, hypotonia, anemia, and severe cortical visual impairment. Magnetic resonance imaging (MRI) of the brain noted thickened cortical gray matter along the right calcarine fissure as well as changes suggesting malformation of cortical development. Empiric uridine monophosphate supplementation has significantly improved seizure activity, hypotonia, and development and has led to resolution of anemia. Conclusions and Importance CAD-related disorder is treatable and may affect visual cortical development causing severe secondary cortical visual impairment, a newly described clinical manifestation.

AbstractChildhood spinal tumors are rare. Tumors can involve the spinal cord, the meninges, bony spine, and the paraspinal tissue. Optimized imaging should be utilized to evaluate tumors arising from specific spinal compartments. This paper provides consensus‐based recommendations for optimized imaging of tumors arising from specific spinal compartments at diagnosis, follow‐up during and after therapy, and response assessment.

Autoimmune epilepsy (AE) is becoming increasingly recognized as a potentially reversible cause of frequent or medically intractable seizures and cognitive deterioration. We describe various presentations of autoimmune encephalopathy which have specifically presented with seizure and describe reported imaging findings. This is organized as a review of the more common autoantibodies which can specifically precipitate seizure according to the intracellular or extracellular location of the targeted antigen. For each antibody, we illustrate their pathophysiology, characteristic clinical presentations with typical effective treatments and prognoses and imaging findings on MRI and PET/CT exams. Parenchymal involvement is variable with the limbic structures typically affected; however, non-limbic cortex, cerebellum, brainstem and basal ganglia can also be involved. In the acute setting, affected regions typically demonstrate T 2 hyperintensity with mild mass effect from edema and increased 18F-fludeoxyglucose uptake. Chronically involved parenchyma will often undergo atrophy and demonstrate decreased metabolism; mesial temporal sclerosis is often the end result when the limbic system is involved. Without treatment, long-term effects from AE range from ongoing cognitive dysfunction and refractory seizures to death. Familiarity with AE may prompt appropriate antibody screening, particularly in cases of refractory seizure disorders. Early investigation and proper management of AE cases may help to prevent parenchymal and neurologic deterioration in these patients.