Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Presentations Of Cutaneous Disease In Various Skin Pigmentations: Keratosis Pilaris, Henry Lim, Reem Ayoub, Madelyn Richards, Marshall Hall, Christian Scheufele, Dustin Wilkes, Michael Carletti, Stephen E. Weis

HCA Healthcare Journal of Medicine

Keratosis pilaris (KP) is a common benign disorder involving hyperkeratosis of the skin. It is associated with other common dry skin disorders such as atopic dermatitis and ichthyosis vulgaris. Lesions are clinically characterized as symmetrically distributed, monomorphic, folliculocentric, hyperkeratotic papules with a variable degree of perifollicular erythema. The appearance can be likened to spikey bumps that are commonly located on the arms, legs, and buttocks. Awareness of KP is important as every primary care clinician will see patients with this disorder. Identification can support the diagnosis of other associated skin diseases. Education about KP and its treatment may alleviate psychological …

Terlipressin-Induced Hyponatremic Seizures In A Patient With Congenital Hepatic Fibrosis, Luca Gauci, Jorge Gafa, Suzanne Cauchi, Jurgen Gerada

HCA Healthcare Journal of Medicine

Introduction

Acute variceal bleeding from portal hypertension is one of the most serious complications with a mortality rate of 15% to 25%. Terlipressin is a vasopressor that controls variceal bleeding by lowering the portal pressure and reducing blood flow to the varices.

Case Presentation

We report a case of a patient with acute variceal bleeding, treated endoscopically and with terlipressin, who developed severe hyponatremia and seizures requiring admission to intensive care. Clinical and biochemical improvements were noticeable upon the cessation of terlipressin, with an eventual discharge from the hospital.

Conclusion

Prompt management of acute variceal bleeding with both endoscopic and …

Comprehensive Care To Improve Quality Of Life: A Case Of Childhood Adrenoleukodystrophy, Miraal S. Dharamsi, Adrian A. Mejia, Cecilia De Vargas

HCA Healthcare Journal of Medicine

The childhood cerebral form of adrenoleukodystrophy (ALD) causes rapid demyelination of cerebral white matter and is clinically characterized by hyperactivity, emotional changes, and poor school performance, as well as progressive cognitive, visual, auditory, speech, and motor decline. While aggressive behavior is a known complication of ALD, treatment of the disease is limited. Moreover, behavioral management is not well described in the available literature, particularly from a psychiatric standpoint. In this case presentation, the patient’s parents reported significant agitation and aggression, which may have been secondary to verbal deficits, in addition to the general neuropathological implications of this disease. Although this …

Classical Findings Of Infantile Hepatic Hemangiomas, Senayit Demie, Michael Bossak

HCA Healthcare Journal of Medicine

Introduction

Hemangiomas are benign vascular tumors that are common during infancy. They are most commonly noted as superficial bright red lesions on the skin but can also be found deeper as subcutaneous lesions. Patients with multifocal cutaneous hemangiomas are at risk of visceral involvement with the liver being most commonly affected. Most hemangiomas can be monitored clinically as they are self-limiting. Despite this, hepatic hemangiomas can have serious complications including large arteriovenous shunts leading to cardiac compromise as well as severe hepatomegaly which can cause abdominal compartment syndrome, impaired ventilation and renal vein compression.

Clinical Findings

A six-month-old female, born …

Flash Pulmonary Edema: A Case And Review Of Left Ventricular Non-Compaction Cardiomyopathy, Paula J. Watts, Oliver S. Garbo, Wendy Barrett, Michael Kopstein, Ryan Maybrook, Dmitriy Scherbak

HCA Healthcare Journal of Medicine

Left ventricular non-compaction cardiomyopathy is an uncommon type of cardiomyopathy caused by malformation of the myocardium during embryogenesis. This results in trabeculations within the ventricular wall that can affect the left and, less commonly, right ventricles. Presentation ranges from clinically asymptomatic to life-threatening arrhythmias. It is a rare and relatively unknown form of cardiomyopathy, though thought to be underdiagnosed. Prevalence is increasing due to improvements in imaging and awareness. Management is similar to that of other cardiomyopathies including angiotensin-converting-enzyme inhibitors or angiotensin receptor blockers, beta-blockers, diuretics, automatic implantable cardioverter defibrillator placement and cardiac transplantation. We present a case of a …