Balkan Journal of Medical Genetics

EPHA4 GENETIC VARIANT IN A PATIENT WITH EPILEPSY, OPHTHALMOLOGICAL ANOMALIES, AND NEURODEVELOPMENTAL DELAY
Sleptsova M, Georgiev C, Atemin S, Dimova P, Avdjieva-Tzavella D, Tacheva G, Litvinenko I, Grozdanova L, Todorov T, Mitev V, Todorova A
*Corresponding Author: Mila Sleptsova, BSc, Genetic Medico-Diagnostic Laboratory “Genica”, 84 Ami Bue Street, Sofia, Bulgaria; Email: milasleptsova99@gmail.com
page: 65

CASE PRESENTATION

A 2-year-old Caucasian male was referred to our labo- ratory for genetic clarification of a non-specified neuro- logical syndrome with developmental delay and facial abnormalities. The case history revealed that the patient was conceived via IVF with sperm from an unidentified Caucasian donor. The mother was healthy with no neuro- logical disorders or genetic abnormalities, and there were no complications during pregnancy and birth (patient birth weight and height – 3490g and 50cm, respectively). Anamnesis revealed that at approximately 4 months of age the patient’s condition started deteriorating as in- dicated by delayed psychomotor, cognitive, and visual development. At around the same time, the patient started suffering from grand-mal seizures. At approximately 7 months of age, the patient already exhibited severe drug- resistant epilepsy, significant psychomotor retardation despite physiotherapy, limb hypertonia, loss of pupillary light response, and nearly complete loss of visual acuity, which rendered him effectively blind. He also exhibited peculiar dysmorphic facial features with hypertelorism, micrognathia, and unusually low auricles. During the following 5 months he suffered a number of additional medical complications including abnormal elevation of Vitamins B1 and B12, pneumonia, and anemia, some of these complications led to hospitalization. Although the patient’s epilepsy and eye abnormalities have continued to aggravate, multiple neurological and ophthalmological examinations have revealed no apparent cause of the patient’s complex medical state. Furthermore, subsequent metabolic and biochemical blood tests were negative for lysosomal enzymes, Very Long Chain Fatty Acids (VLCFA), amino acids and acylcarnitines, and 3-O- Methyldopa (3-OMD). A dry blood spot test for Neuronal Ceroid Lipofuscinosis (NCL) was also negative. Initial ge- netic testing has shown a normal karyotype, no mutations in a targeted 341 gene retinal degeneration-related panel, and no mutations in the mitochondrial genome. Following from the patient’s increasingly worsening condition and the absence of any effective treatment, he was referred for WES in hopes of determining his diagnosis.

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