Congenital glioblastoma multiforme (cGBM) is the rarest type of congenital brain tumors, constituting approximately 3.5% of cases according to the latest literature, with roughly 60 cases published worldwide. This specific presentation can be defined as ‘definitely congenital’, based on the 1964 classification of congenital tumors by Solitare and Krigman. The case report discusses the clinical presentation, radiologic and histologic findings, treatment, and prognosis of cGBM. The tumor was first detected on an ultrasound at 31 weeks gestation, performed for a clinical diagnosis of mild oligohydramnios, revealing an unexpected large intracranial lesion. Prior to this finding, the pregnancy course was uneventful - the fetus was naturally conceived by a 30-year-old G2P1001 without history of infection, radiation, or trauma. No concerning maternal past medical history or use of drugs/alcohol during pregnancy. No family history of CNS malignancy was documented. MRI performed at 31 3/7 weeks confirmed a large complex cystic and solid mass lesion, bigger than previously measured on the aforementioned ultrasound, with mixed T1 and T2 signal within the left parietal/occipital lobe. Findings were concerning for a mass lesion, specifically a GBM given the size and complex signal characteristics. A second ultrasound preformed 12 days later showed even further growth, raising suspicion for a rapidly enlarging tumor. A pediatric neurosurgeon and maternal fetal medicine team following the patient had preemptively decided to deliver the fetus at 36 weeks due to increasing macrocephaly, with a plan for postnatal biopsy to establish pathology before a definitive treatment plan was ascertained. Unfortunately the mother presented to the clinic at 33 1/7 weeks with no fetal movement and an ultrasound confirmed intrauterine demise. After a classic Cesarean section, an autopsy confirmed a diagnosis of cGBM. No other congenital abnormalities were revealed. Although fetal brain tumors are exceedingly rare, it is imperative to diagnose them in-utero due to potential prenatal and postnatal complications. Co-morbidities such as polyhydramnios, spontaneous intracranial hemorrhage, dystocia during delivery, and immediate postnatal heart failure should be continually evaluated for. Knowledge of an intracranial mass will allow providers to appropriately plan the mood of delivery and immediate postnatal course with necessary specialists available for immediate intervention. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Henault Kathryn, Kanev Paul, O'loughlin Michael

Keywords: congential brain tumor, glioblastoma multiforme

Pectus excavatum is a deformity that affects 1-in-1000 children and causes 80% of all chest wall abnormalities. Although usually mild at a young age, it rapidly progresses during puberty requiring dedicated interval monitoring to assess the need for surgical intervention. This sudden acceleration is not without a physiological and psychological impact. Prior to surgery, the patient’s cardiopulmonary status is assessed. In addition, the patient’s psychological welfare should be monitored, given the known link of pectus excavatum with poor body image and social isolation. The Haller Index is the standard measurement to assess the severity of the pectus deformity. A calculated index of > 3.25 is a generally accepted marker of disease and the need for surgical correction. This number represents a ratio between the distance from the posterior sternum to the anterior spine and the widest transverse diameter of the chest wall. There has been an evolution of treatment strategies since this deformity was first recognized. In the 16^th century medical management consisted of fresh air and breathing exercises; in the early 20^th century, treatment swung to the other end of the spectrum with radical surgery involving excision of the anterior chest wall. Since then, surgical procedures have advanced to the current minimally invasive standard of care that incorporates the malleability of the chest wall using reconfiguration and bracing. Bilateral chest wall incisions are made and a subcutaneous substernal tunnel is created. With this procedure in mind, the pre-pubertal patients (11-14yrs) are the optimal age for surgical correction – providing the opportunity for the quickest recovery and excellent results. This clinical case report is a unique look into the progression of pectus excavaum. The diagnosis was made by a radiologist through sequential abdominal CT scans performed to evaluate for recurrent disease for her Stage II Wilms Tumor. She was subsequently referred to a pediatric surgeon at the age of 12 for surveillance monitoring. Over the course of two years (2007-2009) the patient received biannually thoracic CT scans with progressively larger Haller Indices. Given the widening index and a new presentation of shortness of breath at the age of 14, the Nuss procedure was performed with an immediate improvement to the deformity. The bar remained in place for two years, and was successfully removed with only a mild pectus deformity remaining. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Henault Kathryn, Moote Douglas, Campbell Brendan

Keywords: Pectus Excavatum, Nuss procedure, Haller Index

CHD (congenital heart disease) occurs in approximately 1% of all live births with more than 90% survival into adulthood. Prevalence of coronary artery disease has been reported to be similar to general adult population. Patients with complex CHD may be subjected to non-atherosclerotic premature coronary artery disease due to anomalous coronaries, peri-coronary region interventions, or coronary re-implantation. Cardiac MRI (CMR) may provide valuable myocardium health information with pointers towards a coronary distribution in unsuspected chronic or acute cases. Acquisition of delayed enhancement sequences (LGE) and T1 mapping should be considered routine in CMR studies for assessment of interval ischemic events. Patients with complex CHD are also at risk for sudden cardiac arrest and LGE data may assist in further risk stratification of these patients. Three complex CHD patients who all suffered myocardial infarctions at a young age as a result of their multifaceted cardiac history are highlighted to illustrate the importance of this (see included table, Figure 1). Two CMR images (Figures 2,3) demonstrate delayed enhancement throughout the septum at the base to mid-cavity in a patient with truncus arteriosus type 1 who presented with a non-ST-elevation myocardial infarction (NSTEMI). Focal area of low-signal sub-endocaridum within the enhancement on Figure 3 favors microvascular obstruction. CMR is a vital component of surgical planning and post-operative care of patients with CHD, providing accurate anatomical, functional, and flow information that assists in clinical management. Delayed enhancement sequences and post-gadolinium T1 mapping allow assessment of ischemic injury or infarct, and therefore should be considered part of routine follow up CMR studies in patients with complex CHD. Read More

Meeting name: SPR 2018 Annual Meeting & Postgraduate Course , 2018

Authors: Henault Kathryn, Upadhyay Shailendra, Herbst Timothy, O'loughlin Michael, Toro-salazar Olga

Keywords: congenital heart disease, Cardiac MRI, myocardial infarction