Perioperative Care of a Child With Allan-Herndon-Dudley Syndrome

Abstract

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked disorder resulting from mutation of the SLC16A2 gene leading to a deficiency of a the monocarboxylate transporter 8 (MCT8) protein, which facilitates the passage of triiodothyronine (T3) into the central nervous system (CNS). Central lack of T3 leads to increased production of thyroid-stimulating hormone (TSH) with peripheral overproduction of thyroid hormones and systemic signs and symptoms of hyperthyroidism, as well as severe CNS effects including neurodevelopment delay, intellectual disability, hypotonia, and failure to thrive. We present a 6-year-old child with AHDS who required multiple anesthetics for various procedures, including right open adductor tenotomy, right proximal femoral varus osteotomy, and right acetabular osteotomy. The basic cellular defect of AHDS is described, end-organ effects outlined, and impact on perioperative care reviewed.

Int J Clin Pediatr. 2024;13(2):48-53
doi: https://doi.org/10.14740/ijcp535