Repeatedly in Rhabdomyolysis.

ABSTRACT: Repeated presentations of a rare symptom in a patient should make a physician stop and evaluate for rare conditions. This is a report of a teenager with multiple episodes of rhabdomyolysis and weakness. He was eventually diagnosed as having McArdle muscular dystrophy, or glycogen storage disease type V. His rhabdomyolysis has been severe, with a creatinine kinase level of >320,000 U/L, myoglobinuria, transaminitis, and elevated bilirubin. He has a low threshold for triggering rhabdomyolysis, such as doing an hour of aerobic exercise 2 days in a row. McArdle disease is a glycogen storage disorder in which the skeletal muscle cannot convert glycogen to glucose. Unlike other glycogen storage disorders, McArdle muscular dystrophy only affects the skeletal muscle, sparing the brain and visceral organs, leading to a vague phenotype. These patients have exercise intolerance, muscle cramps, and rhabdomyolysis. Many patients report loading with simple carbohydrates before exercise, as they have learned that this can increase their stamina. The vague symptoms can lead to decades of delay in diagnosis and significant mismanagement. Rhabdomyolysis is the most dangerous sign of McArdle disease, and it can lead to acute kidney injury, resulting in renal failure requiring dialysis in the severest cases.Rhabdomyolysis has numerous causes, but when it is recurrent, especially with seemingly insignificant triggers, one needs to develop a broader differential and pursue advanced testing. This testing can include specific exercise tests, genetic sequencing, and muscle biopsy. This case report will guide the clinician through the process of evaluating recurrent rhabdomyolysis, working through the differential diagnosis and testing options.1.

Pharmacologic management of the agitated child.

Agitation is a chief complaint that causes many children and adolescents to present to emergency medical attention. There are many reasons for acute agitation, including toxicologic, neurologic, infectious, metabolic, and functional disorders. At times it may be necessary to pharmacologically treat the agitation to prevent harm to the patient, caregivers, or hospital staff. However, one should always be mindful that the differential diagnosis is broad, and a complete although timely assessment with targeted testing must be done before concluding that the agitation is rooted solely in nonorganic causes. There are various pharmacologic choices for the treatment of agitation, and they will be reviewed here. While treatment of agitation may be necessary to keep the patient as well as staff safe, as well as to facilitate medical evaluation in some cases, care must be taken to treat the patient with compassion, never using pharmacologic treatment for reasons of punishment or staff convenience. The focus is on the pharmacologic management of acute agitation of patients in the pediatric age group, in the context of a full evaluation for possible nonfunctional causes of agitation. Goals, risks, and benefits of medication use will be reviewed.

An update of N-acetylcysteine treatment for acute acetaminophen toxicity in children.

PURPOSE OF REVIEW: Acetaminophen poisoning accounts for a disproportionate percentage of all toxic ingestions, and can be life-threatening. This article reviews the mechanism and presentation of acetaminophen toxicity, as well as its treatment, including current thinking and treatment recommendations. RECENT FINDINGS: N-acetylcysteine acts to detoxify acetaminophen in several ways, but primarily by increasing the synthesis and availability of glutathione, which binds and inactivates the highly reactive and hepatotoxic acetaminophen metabolite N-acetyl-p-benzoquinoneimine. The US Food and Drug Administration has approved an intravenous formulation of N-acetylcysteine, thus allowing the treatment time to be decreased from the 72 hr most commonly used for the oral regimen, to only 20 hr. This comes after many years of accepted intravenous N-acetylcysteine use in Europe and Canada, and much controversy as to the superiority of both treatments. This review summarizes this controversy, and offers a framework to develop a safe treatment plan that has the optimal outcome for the patient, as well as reflecting knowledge of the potential caveats at work. It describes side effects of N-acetylcysteine treatment, as well as relative indications to choose one route of treatment over the other. SUMMARY: Acetaminophen can lead to irreversible liver damage and even death in acute overdose. Outcome is related to the swiftness in which the antidote (N-acetylcysteine) is provided. In the United States, there are now available both the oral and intravenous forms of N-acetylcysteine, and pros and cons exist for each. With brisk and adequate treatment using either route, recovery can be complete, and liver function can be restored.