A Rare Case of an Infant With 1p36 Deletion Syndrome Presenting With Systolic Heart Failure Secondary to Severe Dilated Cardiomyopathy.

1p36 deletion syndrome is a common terminal chromosomal deletion syndrome in humans. It is caused by the deletion of genetic material from a specific region in the short arm of chromosome 1. Symptoms range from seizure disorders, abnormalities of tone, visual and auditory disturbances. Cardiac abnormalities like left ventricular non-compaction (LVNC) and dilated cardiomyopathies (DCM) are commonly associated with this syndrome. This case report presents a 15-month-old female with dilated cardiomyopathy associated with 1p36 deletion syndrome, who has been followed from birth. Cardiac function was normal at birth with an ejection fraction of 65%. At three weeks of age, the patient presented with severe tachypnea, cyanosis, poor weight gain, and diaphoresis with feeding. Echocardiogram showed an ejection fraction of 22%. The patient was diagnosed with Modified Ross Heart Failure Class III. The patient was admitted to the cardiovascular intensive care unit where diuretics, phosphodiesterase inhibitors, and ionotropic agents were used to manage the heart failure. The patient relapsed two months later following a severe adenovirus infection. She was readmitted and heart failure medications were optimized. This patient has maintained a steady growth, meeting most milestones with no further relapse. The heterogeneity of 1p36 deletion syndrome presentation poses a diagnostic challenge for most clinicians. Cardiac involvements are very common and infants presenting with signs and symptoms of heart failure need to be screened for chromosomal abnormalities when other causes have been ruled out.

Head Lice Infestation: An Unusual Cause of Iron Deficiency Anemia in a 13-Year-Old Female.

Pediculosis is a parasitic infestation of the human head and body by Pediculus humanus. This is a benign condition commonly seen in children and capable of causing severe pruritus. The parasite thrives on human blood and in some cases, the volume of blood loss over time could be large enough to precipitate anemic symptoms in the patient. We describe the case of a 13-year-old girl who presented with shortness of breath on exertion, palpitations, and easy fatigability. An incidental finding of Pediculus humanus capitis infestation was made during physical examination. Complete laboratory investigations did not reveal other possible causes of anemia, leading to a diagnosis of iron deficiency anemia (IDA) secondary to severe chronic pediculosis. This case highlights a rare and unusual cause of IDA in children caused by pediculosis, and the need for a thorough investigation, close follow-up, and treatment.

An Unusual Clinical Presentation of Immunoglobulin A Vasculitis in an Elderly Patient.

Immunoglobulin A (IgA) vasculitis (IgAV), also known as Henoch-Schonlein purpura, is an IgA-mediated leukocytoclastic vasculitis predominantly affecting the gastrointestinal tract, kidneys, and skin. IgAV appears to be more common in children and is relatively rare in the adult population. We describe a case of a 72-year-old man who presented with bilateral lower extremity swelling, nausea, vomiting, abdominal pain, and weight loss, in which a diagnosis of IgAVs was established with a skin biopsy. This case highlights a rare and unusual clinical presentation of IgAV in an older patient and the need for prompt diagnosis and treatment.