Balkan Journal of Medical Genetics

SENSORINEURAL HEARING LOSS IN A CHILD WITH SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Parezanović M, Ilić N, Ostojić S, Stevanović G, Ječmenica J, Maver A, Sarajlija A
*Corresponding Author: Adrijan Sarajlija MD, PhD, Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute “Dr Vukan Čupić”, Radoja Dakića 6-8, 11070 Novi Beograd, Serbia; e-mail: adrijans2004@yahoo.com
page: 63

CASE REPORT

The patient we present is a male child of Serbian ethnicity, firstborn from a non-consanguineous marriage and uncomplicated pregnancy. Generalized hypotonia was noted shortly after birth, with Apgar score of 7 at first minute and 9 at the fifth minute. A newborn screening test via the automated otoacoustic emission (AOAE) method showed possible hearing impairment. There was no history of ototoxic drug use during pregnancy, nor during the newborn period. Signs of developmental delay were visible during the first months of life. Namely, at 3 months of age, severe axial and moderate limb hypotonia and hyporeflexia with poor head control were noted. Deep tendon reflexes of the lower extremities were decreased, with an absence of proper gaze fixation or smiling patterns. Vocalization was also assessed as inadequate at the time. The basic biochemical panel at the time was normal, while serologic testing for congenital infections returned negative. Initial genetic investigations showed normal karyotype and negative multiple ligand probe assay for microdeletion and microduplication syndromes (MRCHolland P064-C1 kit). Metabolic assessment included plasma amino acids profile, very long chain fatty acid serum concentration, and urinary organic acids analysis. All results were within the reference range. Electromyoneurography and electroencephalography findings were also normal. At eight months of age, a psychological assessment showed severe psychomotor developmental delay. The parents reported the absence of appropriate reactions to sound. Brain magnetic resonance imaging (MRI) showed incomplete myelination and high signal intensity in bilateral globi pallidi (figure 1). At the age of one year, brainstem evoked response audiometry (BERA) revealed a bilateral sensorineural hearing impairment, a “cookie bite” type audiogram was approximated (figure 2), and hearing aid was applied. Due to persistent hypotonia associated with developmental delay and sensorineural hearing impairment, whole exome sequencing (WES) was indicated. Results showed that the patient has a homozygous pathogenic variant NM_170740: c.1265G>A (Gly422Asp) in the ALDH5A1, so the SSADH deficiency diagnosis was established. Variants of uncertain significance were detected in several additional genes and some of those genes (CHD7, TECTA, MYH14, DIAPH1) have roles in auditory functioning. Repeated urinary organic acid profile failed to capture an elevated concentration of gamma-hydroxybutyric acid. At present, the boy is five years old and shows certain improvements in psychomotor performance in terms of better motor coordination, verbal and non-verbal communication and mild improvement in cognitive functions. The boy walks with minimal support, ataxia is present as well as occasional stereotypic and involuntary movements. He is currently attending an inclusive kindergarten program for children with hearing difficulties. Bilateral hearing aids in the form of hearing amplifiers have been applied with the aim of improving the BERA test results, which are currently characterized as moderate hearing loss with elements of sensory and expressive dysphasia.

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