Hyperekplexia with congenital heart disease: anesthetic concerns and management.

Abstract

disease, is a rare genetic neurological disorder that primarily affects infants and is characterized by excessive blinking of eyes or body spasms in response to sudden unexpected auditory or tactile stimulation. Symptoms include extreme muscle tension (stiffness or hypertonia) [1]. Hyperekplexia is usually inherited as an autosomal dominant trait, but autosomal recessive or, rarely, X-linked inheritance may also occur [2]. Mutations in GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9 (X-linked) have been associated with these conditions. Hyperekplexia 1 is caused by a mutation in GLRA 1 gene [3]. Delayed developmental milestones or learning difficulties can be observed in some children. Congenital disabilities leading to dysfunction of glycinergic inhibitory transmission are seen in hereditary hyperekplexia [4,5]. They are frequently associated with inguinal, umbilical, or epigastric hernias. As a rare disease, limited literature is available regarding anesthetic management in such cases, primarily when associated with congenital heart disease (CHD). Here, we discuss the successful management of a hyperekplexic child with CHD. Written informed consent to publish this case was obtained from the patient’s legal guardian. A 1-year-old child weighing 9 kg was scheduled for a right inguinal hernia repair surgery. At presentation, the patient had dysmorphic facial features (short nose, retrognathia, anteverted nares, and long philtrum) (Fig. 1). His medical history suggested that he was born by caesarean section (because of thick meconium-stained liquor). The patient’s birth history was uneventful. However, a few hours after birth, he presented with a flexed posture, brisk reflexes, and an exaggerated startle response and was diagnosed with hyperekplexia. At one month of age, he developed global hypertonia, and had delayed development. Electroencephalography revealed interictal epileptiform discharges originating from the left posterior head region. Electromyography revealed a myopathic potential. Magnetic resonance imaging results Letter to the Editor Anesth Pain Med 2022;17:338-339 https://doi.org/10.17085/apm.22173 pISSN 1975-5171 • eISSN 2383-7977