Dilated cardiomyopathy associated with a mutation in the dispatched RND transporter family member 1 gene

Dilated cardiomyopathy is the most common presentation of cardiomyopathy in children with 20–35% of patients having an identified genetic component. There are more than 30 genes implicated in the pathogenesis of dilated cardiomyopathy. We present the first report of a female infant with dilated cardiomyopathy with a genetic variant in the dispatched RND transporter family member 1 gene.

A rare case of Left Main Coronary Artery Atresia presenting as Dilated Cardiomyopathy and misdiagnosed as ALCAPA

This case report presents an extremely rare case of left main coronary artery atresia in a 14-week-old female infant presenting with severe symptoms of dilated cardiomyopathy.

671 Fetus-In-Fetu Found at Excision of An Antenatally Diagnosed Abdominal Mass: Multi-Disciplinary Approach

We present a case of antenatally detected abdominal mass and an alternative diagnostic course for suspected neonatal neuroblastoma as a result of investigative findings. A female infant presented antenatally with a left upper quadrant mass initially managed as a suspected neonatal neuroblastoma; further cross-sectional imaging suggested a wider differential including teratoma and aided surgical planning. The multi-disciplinary team (MDT) decision was for an early excision at 31 days and post-operative histology identified a diagnosis of fetus-in-fetu (FIF). We describe this case as a compliment to the current literature and an example of a necessary variation to recognised diagnostic and treatment pathways as a result of investigative findings.

Orbital Lymphatic-Venous Malformation Accompanied by an Intraocular Vascular Malformation: A Rare Case Study

Lymphatic-venous malformations (LVMs) are development defects that result in abnormal connections between the lymphatic and venous systems. The authors describe a 7-weeks-old female infant who presented with a right orbital LVM extending to the ipsilateral cheek and subconjunctiva of the right eye, intracranial developmental venous anomalies in the right cerebellum, and a significant right eye intraocular retinal vascular malformation. Since orbital LVM is usually diagnosed in infancy or childhood, pediatric ophthalmologists should actively look for intraocular vascular malformations as such findings can poorly affect a patient’s vision.