Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.

07:00 EST 14th January 2020 | BioPortfolio

Summary of "Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency."

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. Rhabdomyolysis can become life-threating and therefore its recognition and prompt management is of significant importance. Here we present two cases of patients with AADC deficiency and a history of dystonic crisis causing rhabdomyolysis. We hypothesize that in addition to the hypodopaminergic, a hypercholinergic state is contributing to the pathophysiology of dystonia in AADC deficiency, as well as to the associated rhabdomyolysis. We were able to prevent rhabdomyolysis in both patients with using Dantrolene and we suggest using a trial of this medication in cases of sustained dystonic crisis in AADC deficiency patients.


Journal Details

This article was published in the following journal.

Name: Neuropediatrics
ISSN: 1439-1899


DeepDyve research library

PubMed Articles [29674 Associated PubMed Articles listed on BioPortfolio]

Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation.

Several metabolic disorders are related to rhabdomyolysis, but their association with methylmalonic acidemia (MMA) and propionic acidemia (PA) is unclear. Eleven patients with MMA and four patients wi...

Malignant Hyperthermia - Update on Pathophysiology, Diagnostics and Treatment.

Malignant hyperthermia (MH) is a rare, heterogenic syndrome leading to potentially life-threatening skeletal muscle hypermetabolism following exposure to inhalational anesthetics and succinylcholine. ...

Treatment of severe refractory dystonic tremor associated with cervical dystonia by bilateral deep brain stimulation: A case series report.

The aim of the present study was to present a case series of 3 patients with longstanding, severe, debilitating dystonic head tremor (DT) coexistence with cervical dystonia (CD) treated successfully b...

Pharmacological Treatment of Malignant Hyperthermia: Update 2019.

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle presenting as a hypermetabolic response to potent volatile anesthetics such as sevoflurane, desflurane, isoflurane and the ...

Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male: A case report.

The occurrence of repeated and progressive rhabdomyolysis is rare in clinical settings, particularly in adults. The pathogenesis of rhabdomyolysis is often overlooked due to its rapid recovery. Carnit...

Clinical Trials [8582 Associated Clinical Trials listed on BioPortfolio]

Rhabdomyolysis - a Study of Patient Characteristics and Laboratory Values to Guide Treatment

Rhabdomyolysis is a potentially life-threatening syndrome characterized by breakdown of skeletal muscle, and leakage of intracellular substances such as myoglobin and creatine kinase (CK) ...

Incidence of Rhabdomyolysis Among Patients Admitted With Jimsonweed Ingestions

Retrospective chart review to determine the presence of rhabdomyolysis among patients admitted to CHMCA from 1997-2007 with Jimsonweed ingestions and to define possible risk factors predis...

Feasibility of Dantrolene to Study RyR2 Inhibition to Prevent Ventricular Arrhythmias

This is an open label trial (N=5 participants) to demonstrate the feasibility of using I.V. dantrolene to study the effect of RyR2 inhibition on cardiac electrophysiology, hemodynamics and...

Dantrolene for Treatment of Hyperthermia in Subarachnoidal Hemorrhage (SAH)

Dantrolene is used to prevent hyperthermia in intensive care patients suffering from subarachnoidal hemorrhage.

Safety Study of Dantrolene to Treat Cerebral Vasospasm After Subarachnoid Hemorrhage

Subarachnoid hemorrhage (SAH) is a devastating acute brain injury due to bleeding onto the brain surface from a ruptured aneurysm. Cerebral vasospasm (cVSP; critical narrowing of brain art...

Medical and Biotech [MESH] Definitions

Skeletal muscle relaxant that acts by interfering with excitation-contraction coupling in the muscle fiber. It is used in spasticity and other neuromuscular abnormalities. Although the mechanism of action is probably not central, dantrolene is usually grouped with the central muscle relaxants.

An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)

An inorganic compound that is used as a source of iodine in thyrotoxic crisis and in the preparation of thyrotoxic patients for thyroidectomy. (From Dorland, 27th ed)

Rare and often fatal drug complication which affects patients undergoing long-term treatment with high doses of PROPOFOL. It is characterized by METABOLIC ACIDOSIS; HYPERLIPIDEMIA; RHABDOMYOLYSIS; cardiovascular CIRCULATORY COLLAPSE; CARDIAC FAILURE; and KIDNEY FAILURE.

Brief therapeutic approach which is ameliorative rather than curative of acute psychiatric emergencies. Used in contexts such as emergency rooms of psychiatric or general hospitals, or in the home or place of crisis occurrence, this treatment approach focuses on interpersonal and intrapsychic factors and environmental modification. (APA Thesaurus of Psychological Index Terms, 7th ed)

Quick Search

DeepDyve research library

Relevant Topics

Selective serotonin reuptake inhibitors SSRIs
Serotonin and norepinephrine reuptake inhibitors (SNRIs) are a class of medications that are effective at easing depression symptoms. SNRIs are also sometimes used to treat other conditions such as anxiety and nerve pain. How SNRIs work Serotonin (se...

Pharmacy is the science and technique of preparing as well as dispensing drugs and medicines. It is a health profession that links health sciences with chemical sciences and aims to ensure the safe and effective use of pharmaceutical drugs. The scope of...

Searches Linking to this Article