Dental surgery under anesthesia successful for AADC deficiency boy
Symptoms, complications of disease make procedure 'extremely challenging'
A 14-year-old boy with aromatic l-amino acid decarboxylase (AADC) deficiency had successful extensive dental surgery under general anesthesia, a study reports.
Precautions were taken throughout the procedure to avoid complications that occur with anesthesia in this patient population, including abnormal changes in blood pressure, body temperature, and blood sugar levels, as well as breathing problems.
“Our case highlights the importance of developing specific protocols for accurate and safe anesthesia management in patients with [AADC deficiency],” the researchers wrote. Details of the case were published in the Journal of Dental Anesthesia and Pain Medicine, in the study “Anesthesia management for dental procedures in a patient with aromatic L-amino acid decarboxylase deficiency: a case report.”
AADC deficiency, which is caused by mutations in the DDC gene, affects the production of certain neurotransmitters like dopamine and serotonin, which are signaling molecules that nerve cells use to communicate. Symptoms emerge in the first months of life and can range from mild to severe. Common features include low muscle tone (hypotonia), movement disorders, delayed development, irritability, anxiety, and sleep disturbances. Patients can also have problems with their autonomic nervous system, which controls involuntary processes like heart rate, blood pressure, blood sugar levels, body temperature, digestion, and breathing.
As the nerve cell-suppressing effects of anesthesia can lower blood pressure, slow breathing rates, and reduce heartbeat, AADC deficiency symptoms and complications “make anesthesia extremely challenging,” the researchers wrote. “Patients with [AADC deficiency] require meticulous preoperative planning and preparation, detailed knowledge of the underlying [disease-associated changes] and potential perioperative complications, and a comprehensive multidisciplinary approach for management,” the researchers wrote. Perioperative refers to the time around surgery.
Managing anesthesia in AADC deficiency
However, “literature on anesthesia management in patients with [AADC deficiency] is still scarce,” wrote researchers in Turkey who described the successful anesthetic management of a boy, 14, with AADC deficiency for several dental procedures.
The boy developed hypotonia, irritability, and sleep problems soon after he was born, and was diagnosed with AADC deficiency after a genetic analysis revealed a DDC mutation. He showed severe developmental delays, marked hypotonia, intellectual disabilities, and motor impairments. He was also hospitalized due to gastrointestinal problems and aspiration pneumonia, a lung infection that occurs when liquids or foods are inhaled into the lungs.
The boy also had a very small head for his age, along with a lower jaw that was smaller than normal, features not often reported in AADC deficiency, the researchers said.
Examining the boy’s mouth and airways wasn’t successful because of his mental state and uncooperative nature. Anticipating difficulties with ventilation and intubation, the medical team used routine airway management equipment alongside kits for an emergency tracheostomy, where a tube is inserted into the windpipe to help with breathing, in case intubation wasn’t successful.
The boy didn’t receive medications before surgery due to poor cooperation and airway hypotonia that could cause airway obstruction. The team also used forced-air warming, heated blankets, and into-the-vein solutions to maintain a normal body temperature.
Anesthesia began by administering intravenous lidocaine, propofol, and rocuronium, after which the boy was intubated without complications. Anesthesia maintenance included propofol and remifentanil.
The boy was also given medicines to prevent swelling and infections, as well as glucose, or blood sugar, directly into the bloodstream to maintain normal blood sugar.
During surgery, he underwent several procedures, including tartar removal, dental fillings, tooth extractions, and the surgical removal of a fluid-filled sac in the lower jaw region.
The boy remained stable during the two-hour procedure, which was completed without any complications, such as bleeding or respiratory problems.
At the beginning and end of the procedure, he was given paracetamol directly into the bloodstream for pain. The neuromuscular blockade was reversed with standard medication and spontaneous breathing returned within a few minutes. The breathing tube was removed and the boy was transferred to the post-anesthesia care unit. A day after being transferred to the pediatric ward, the boy was discharged from the hospital.
AADC deficiency “is a highly complex disease affecting multiple systems, and anesthetic management of affected patients is extremely challenging for the anesthesiologist,” the researchers wrote. “The anesthesiologist should know all the features and management difficulties of the disease and its related complications and be equipped to treat the patients.”
“As the number of reported cases is very low and there are no established guidelines for AADCD, we believe that this report is a valuable addition to the literature,” they wrote.
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