Vol 2-2 Case Report

Diagnosis of ALCAPA in a 5-Year-Old Presenting with Atrial Arrhythmias

Pinting Chen MS1*, Anthony Khong MS2, Gary Ledley MD3, Vicki Mahan MD4

1,2Drexel University College of Medicine

3Hahnemann University Hospital, Drexel University College of Medicine

4St. Christopher’s Hospital for Children and Drexel University College of Medicine

Anomalous left coronary artery to pulmonary artery (ALCAPA) is a congenital heart defect in which the left coronary artery (LCA) originates from the pulmonary trunk instead of from the aorta. This disease occurs in 1 in 300,000 births and, if untreated, 90% of these neonates die within the first year. Individuals who live beyond this tend to be asymptomatic and either experience sudden death at an average age of 35 or present with cardiac abnormalities, including myocardial ischemia, arrhythmia, or mitral regurgitation. There are various surgical interventions used to treat ALCAPA, and the establishment of a two coronary artery system is the preferred treatment of choice. We report a case of a five-year-old presenting with supraventricular tachycardia since birth who, upon diagnosis of ALCAPA by angiography, was treated by surgical ligation. Thirty years later, he returned to a cardiologist with symptoms of congestive heart failure. The initial presentation of this patient is unusual because the manifestation of ALCAPA usually occurs within the first few months of birth and because ligation is no longer the preferred method of intervention. We discuss this unique case, suggest possible associations between ALCAPA and arrhythmias, review the various surgical methods used to treat ALCAPA, and evaluate the long-term outcome of ligation.

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Vol 2-2 Mini Review

The Ketogenic Diet as a Potential Therapy in Down syndrome

Kyle N. Kaneko1*, Miki Wong1,3, Michael J. Corley1,2, Ryan W.Y. Lee1,2,3

1Shriners Hospitals for Children®—Honolulu, Department of Research, Honolulu, HI, USA

2John A. Burns School of Medicine, University of Hawaii School of Medicine, Honolulu, HI, USA

3Milestones Center for Pediatric Neurodevelopment, Honolulu, HI, USA

Down syndrome is a common genetic intellectual disability seen in humans. Currently, therapeutic interventions are inadequate in improving the quality of life for individuals with Down syndrome that have cognitive and behavioral impairments. Nutrition therapies for Down syndrome have focused on addressing obesity but not intellectual disability and cognitive decline. The ketogenic diet is a very low carbohydrate, moderate protein, and high fat diet used to treat childhood and adult epilepsy, however, there is growing interest in its potential to improve cognition and behavior. There is evidence suggesting that the ketogenic diet may be effective in treating comorbidities associated with Down syndrome such as early onset of Alzheimer’s disease and dementia. This review aims to discuss the ketogenic diet and the potential benefits that the diet may provide in neurodevelopmental and neurodegenerative diseases. We propose that the ketogenic diet may be a therapeutic option for cognitive decline in Down syndrome and warrants investigation.

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Vol 2-2 Mini Review

Mini Review: Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogeneic Hematopoietic Cell Transplantation

Danielle E. Arnold1 and Jennifer Heimall1

1Division of Allergy & Immunology, Children’s Hospital of Philadelphia, United States

Severe combined immunodeficiency (SCID) is a group of the most severe of primary immunodeficiencies and is typically fatal in the first year of life without hematopoietic cell transplantation (HCT). Improved transplantation techniques and supportive care measures have resulted in improved survival following HCT. Furthermore, patients are being diagnosed earlier since the widespread implementation of SCID newborn screening in the United States and moving on to transplantation before 3.5 months of age. As such, most SCID patients are now expected to live well into adulthood following successful HCT. Many centers are using conditioning with alkylating agents, including busulfan and melphalan, pre-transplantation to achieve full T and B cell immune reconstitution; however, significant concerns remain regarding the attendant risks of using chemotherapeutic agents in early infancy. Several long-term follow-up studies have demonstrated high rates of non-immunologic late effects depending on the conditioning regimen employed and SCID genotype. The full risk of conditioning in this patient population remains incompletely characterized, and further research on post-HCT outcomes is needed. It is imperative that all providers caring for SCID survivors both in childhood and adulthood be aware of the risk of late effects. Guidelines for long-term follow-up were recently published, and the recommendations are briefly summarized here.

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