Atypical Molecular Features of Pediatric Tectal Glioma: A Single Institutional Series.

We present 4 children (diagnosed between 1 and 8 y, 3 females and 1 male) with molecularly distinct tectal gliomas (2 KRAS mutant, 1 EGFR mutant, 1 SRGAP3-RAF-1 fusion) that contributes to the growing literature of this uncommonly biopsied tumor. The patient with EGFR R222C mutation had a more severe course, earlier diagnosis, subsequent leptomeningeal metastatic disease, required more aggressive therapies, and died 9 years after diagnosis. Patients with KRAS mutations and SRGAP3-RAF-1 fusion had a more indolent course.

The role of methylation profiling in histologically diagnosed neurocytoma: a case series.

Purpose: To highlight the clinical, neuroradiographic, neuropathologic, and molecular features of histologically identified neurocytoma in a pediatric cohort and highlight the evolving use methylation profiling in providing diagnostic clarity in difficult to diagnosis pediatric brain tumors.

Methods: Five consecutive children (ages 9-13, 2 girls 3 boys) were histologically diagnosed with neurocytoma at Rady Children's Hospital San Diego from 2012 to 2018. Clinical and molecular features were analyzed with regards to treatment course and outcome.

Single-agent Bevacizumab in the Treatment of Symptomatic Newly Diagnosed and Recurrent/Refractory Pediatric Cervicomedullary Brainstem Low-grade Gliomas: A Single Institutional Experience.

Bevacizumab-based therapies have been utilized as single or combination therapy of refractory/recurrent pediatric low-grade gliomas. Its efficacy for symptomatic cervicomedullary low-grade gliomas (cmLGGs) in the upfront and the recurrent setting is less known. We report our retrospective single institutional experience from 2015 to 2021 with single-agent bevacizumab for symptomatic cmLGG.

Hemorrhagic Transformation Following Childhood Cardioembolic Stroke Is Not Increased in Anticoagulated Patients.

Objective: To characterize the risk of hemorrhagic transformation following cardioembolic stroke in childhood, and whether anticoagulation impacts that risk.

Methods: Ninety-five children (1 month-18 years) with cardioembolic arterial ischemic stroke between January 1, 2009, and December 31, 2019, at 2 institutions were identified for retrospective chart review. Neuroimaging was reviewed to assess for hemorrhagic transformation.

Fetal Ultrasound and Magnetic Resonance Imaging Findings in Suspected Septo-Optic Dysplasia: A Diagnostic Dilemma.

Objectives: To investigate prenatal imaging findings supporting a diagnosis of suspected septo-optic dysplasia (SOD) by fetal ultrasound (US), magnetic resonance imaging (MRI), or both.

Methods: A retrospective review identified 11 patients with SOD: 9 had a clinical diagnosis of SOD postnatally, and 2 were terminated on the basis of suspicious prenatal imaging. Prenatal and neonatal imaging of the cavum septi pellucidi (CSP), frontal horns (FHs), and lateral ventricles was evaluated.

Undescended retropharyngeal parathyroid adenoma with adjacent thymic tissue in a 13-year-old boy with primary hyperparathyroidism.

We describe a rare presentation of a symptomatic parathyroid adenoma located in an ectopic retropharyngeal position in a 13-year-old boy. Preoperative CT scan and MRI demonstrated the ectopic location of the parathyroid adenoma. The patient underwent successful parathyroidectomy with cure of his hyperparathyroidism.

Scurvy Findings in a Child with Jacobsen Syndrome: A Case Report.

Case: We describe the first reported case of scurvy developing secondary to behavioral traits of Jacobsen syndrome. The diagnosis of scurvy was significantly delayed because bleeding symptoms were initially attributed to baseline thrombocytopenia and platelet dysfunction associated with Jacobsen syndrome and patient's medication. Following vitamin C supplementation, signs and symptoms of the patient's disease quickly resolved.

Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.

Homocystinuria is an inherited metabolic disorder most commonly caused by cystathionine β-synthase deficiency. Severe cases can cause white matter abnormalities that can mimic other vascular, toxic and metabolic disorders on computed tomography and magnetic resonance imaging. We present such a case which demonstrates not only extensive white matter abnormalities on magnetic resonance imaging, but also previously unreported basal ganglia signal abnormalities and imaging manifestations of increased intracranial pressure, likely caused by elevated methionine and betaine therapy.

Single-agent bevacizumab in the treatment of recurrent or refractory pediatric low-grade glioma: A single institutional experience.

Introduction: Bevacizumab-based therapy has been demonstrated to be effective in the treatment of refractory or recurrent pediatric low-grade glioma (LGG); however its efficacy as a single agent is less understood.

Methods: We report our experience with single-agent bevacizumab for the treatment of recurrent or refractory LGG treated with either standard 2 week dosing (10 mg/kg/dose every 2 weeks) or with a standard 2 week dosing followed by an increased interval dosing (10 mg/kg/dose every 4 weeks).

Results: From 2012 to 2017, 15 patients (five males and 10 females) with recurrent/refractory LGG (nine suprasellar, three thalamic, two brainstem, and one intramedullary spinal cord) were treated with a total of 156 doses of bevacizumab (115 every 2 week dosing, 41 every 4 week dosing, median 10 doses).

Orbital Perivenous Abscess Complicating the Diagnosis and Management of Orbital Cellulitis.

An 11-year-old female presented with orbital cellulitis, bacterial sinusitis, enlarged left superior ophthalmic vein, dural venous sinuses, and internal jugular vein. The patient underwent endoscopic sinus surgery and was started on intravenous antibiotics and anticoagulation with limited improvement in orbital signs and symptoms. A magnetic resonance imaging/magnetic resonance venography of the orbits and brain revealed a dilated left superior ophthalmic vein with absence of flow but no clearly discernible orbital abscess.

Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern.

Objectives: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus.

Methods: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies.

Atypical Teratoid Rhabdoid Tumor in a Teenager with Unusual Infiltration Into the Jugular Foramen.

Background: Atypical teratoid rhabdoid tumor is a rare malignant neoplasm that represents 1%-2% of all pediatric central nervous system tumors. Immunohistochemistry plays an important role in establishing the diagnosis with a loss of INI-1 staining in tumor cells. In this case report, we describe a teenager with an unusual presentation and pattern of infiltration of the tumor.

Pituitary tumor apoplexy in adolescents.

Objective: The aim of this study was to determine whether there are differences in pituitary apoplexy and subclinical apoplexy secondary to adenoma hemorrhage in the adolescent population with regard to symptomatology, neuroimaging features, pathology, and outcomes compared with adults.

Methods: A retrospective series of 9 consecutive patients with a diagnosis of pituitary hemorrhage who were surgically treated at Rady's Children's Hospital San Diego, between 2008 and 2013 were evaluated for clinical, endocrine, neuroradiographic, and pathologic features in association with clinical outcomes.

Results: Nine patients (6 girls, age 14-21 years) presented to our institution with headache (9/9), nausea (3/9), dizziness (4/9), and visual disturbances (6/9) in the setting of a sellar hemorrhagic tumor on magnetic resonance imaging (MRI).

FDG PET of the brain in pediatric patients: imaging spectrum with MR imaging correlation.

Positron emission tomography (PET) of the brain is an important problem-solving tool in pediatric neuroimaging, neurology, and neurosurgery. Fluorine 18 fluorodeoxyglucose (FDG) PET or dual-modality PET and computed tomographic (CT) imaging (PET/CT), with magnetic resonance (MR) imaging correlation, can be used to evaluate childhood epilepsy and pediatric brain tumors, areas in which PET adds value in patient management. FDG PET has been widely used in pediatric temporal lobe epilepsy, most commonly manifesting as mesial temporal sclerosis, which demonstrates hypometabolism at interictal PET and hypermetabolism during seizures.

Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.

Frontonasal Dysplasia (FND) and Oculo-auriculo-vertebral spectrum (OAVS) are two well-recognized clinical entities. With features of both FND and OAVS, the term oculoauriculofrontonasal syndrome (OAFNS) was coined in 1981. The OAFNS phenotype combines elements of abnormal morphogenesis of the frontonasal and maxillary process (derived from forebrain neural crest) with abnormal development of the first and second branchial arches (derived from hindbrain neural crest).

Craniosynostosis: imaging review and primer on computed tomography.

Craniosynostosis is encountered in the pediatric population in isolated or syndromic forms. The resulting deformity depends on the number and type of sutures involved and, in multi-sutural synostosis, the order of suture fusion. Primary craniosynostosis needs to be differentiated from the secondary variety and positional or deformational mimics.

Making the diagnosis: metopic ridge versus metopic craniosynostosis.

Introduction: The metopic suture is the only calvarial suture which normally closes during infancy. Upon closure, a palpable and visible ridge often forms which can be confused with metopic craniosynostosis. Metopic ridging (MR) is treated nonsurgically while metopic craniosynostosis (MCS) is treated surgically.

Image-guided cerebrospinal fluid shunting in children: catheter accuracy and shunt survival.

Object: Cerebrospinal fluid shunt placement has a high failure rate, especially in patients with small ventricles. Frameless stereotactic electromagnetic image guidance can assist ventricular catheter placement. The authors studied the effects of image guidance on catheter accuracy and shunt survival in children.

Childhood subdural hemorrhage, macrocephaly, and coagulopathy associated with Prader-Willi syndrome: case report and review of the literature.

A 16-month-old girl with a history of Prader-Willi syndrome and progressive macrocephaly manifested large, bilateral, subdural hemorrhages of differing ages on magnetic resonance imaging. Subsequent evaluation revealed a deficiency of von Willebrand factor, but after repeated evaluations, no conclusive evidence of nonaccidental trauma became apparent. Subdural hemorrhages of varying ages are frequently associated with nonaccidental trauma during early childhood.

Hedgehog pathway inhibitor saridegib (IPI-926) increases lifespan in a mouse medulloblastoma model.

The Sonic Hedgehog (Shh) pathway drives a subset of medulloblastomas, a malignant neuroectodermal brain cancer, and other cancers. Small-molecule Shh pathway inhibitors have induced tumor regression in mice and patients with medulloblastoma; however, drug resistance rapidly emerges, in some cases via de novo mutation of the drug target. Here we assess the response and resistance mechanisms to the natural product derivative saridegib in an aggressive Shh-driven mouse medulloblastoma model.