Anaesthesia in patients of aromatic L-amino acid decarboxylase (AADC) deficiency for MRI scan and stereotactic surgery

No author information is available for this submission.

27 views
0 downloads

Presentation

The authors are in the process of completing this submission.

Please try again later.

Abstract

Background: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder. The AADC enzyme plays an important role in the synthesis of monoamine neurotransmitter like dopamine and serotonin. Lack of the AADC enzyme would lead to reduced concentration of biogenic amines and metabolites in cerebrospinal fluid and result in autonomic dysfunction and movement disorder with symptoms such as oculogyric crises, limb dystonia, neurologic dysfunction and impaired movements. Hemodynamic instability, poor thermoregulation, and hypoglycemia due to AADC may seriously influence anesthetic managements.
Case report: Eight patients with AADC deficiency were enrolled in the study. All patients were older than 24 months and indicated for stereotactic surgery. They received general anesthesia (GA) for both MRI scan and stereotactic surgery within a week interval. All patients tolerated GA without complications. The average duration for MRI scan was 93 minutes, and 521 minutes for stereotactic surgery. During the MRI scan, only 1 patient received vasoactive agent once, and the hemodynamics were stable in other patients. Extubation were performed right after the procedure, and all patients were sent to intensive care units (ICU) for further observation. No respiratory complications were noted throughout the ICU stay. For the stereotactic surgery, 4 patients needed inotropic support. During the surgery, neither hypoglycemia nor hypo- or hyperthermia were detected. All patients were sent to ICU for post-operative care, and extubation were performed smoothly.
Discussion: Due to reduced concentration of catecholamine and intact parasympathetic activity, anesthetic management in AADC deficiency patients is challenging. In our case series, hemodynamics of AADC deficiency patients were stable during GA for minor procedure such as MRI scan. However, in major surgeries, inotropic or vasoactive support might be necessary. Our study shows that GA can be conducted safely in AADC deficiency patients with careful monitoring.

Keywords

aromatic l-amino acid decarboxylase deficiency

aadc deficiency

pediatric anesthesia

gene therapy

stereotactic surgery

mri

alcohols

alkaloids

amines

amino alcohols

anthropometry

atropine

atropine derivatives

autacoids

aza compounds

azabicyclo compounds

belladonna alkaloids

benzene derivatives

biogenic amines

biogenic monoamines

biological factors

body constitution

body fluids

body height

body size

body weights and measures

bone and bones

bridged bicyclo compounds, heterocyclic

cardiovascular physiological phenomena

catecholamines

catechols

cerebrospinal fluid

circulatory and respiratory physiological phenomena

cyclohexanes

cycloparaffins

diagnosis

diagnostic techniques and procedures

dopamine

dyskinesias

dystonia

ephedrine

ethylamines

extracellular fluid

fluids and secretions

genetics

glucose metabolism disorders

growth

growth and development

health occupations

hemodynamics

heterocyclic compounds

heterocyclic compounds, 2-ring

heterocyclic compounds, bridged-ring

heterocyclic compounds, fused-ring

hydrocarbons

hydrocarbons, alicyclic

hydrocarbons, aromatic

hydrocarbons, cyclic

hyperthermia

hypoglycemia

indoles

inflammation mediators

instability

investigative techniques

ketamine

management

medicine

metabolic diseases

musculoskeletal system

neostigmine

nervous system diseases

neurologic manifestations

nutritional and metabolic diseases

onium compounds

organic chemicals

pathological conditions, signs and symptoms

pediatrics

phenethylamines

phenols

phenylammonium compounds

physical examination

physiological phenomena

propanolamines

propanols

quaternary ammonium compounds

reproductive and urinary physiological phenomena

reproductive physiological phenomena

serotonin

sex

signs and symptoms

skeleton

skull

solanaceous alkaloids

surgery

tropanes

tryptamines