Louisiana Research Day Program Book 2025

Case Studies: Section 1

Case Studies: Section 1

Kareem Abdelhamid, OMS-III 1 ; Julia Moore, OMS-III 1 ; Dr. Alpeesh Patel, MD 1 1 Willis-Knighton Medical Center, Shreveport, LA 74 A RARE CO-OCCURRENCE OF CONGENITAL TOXOPLASMOSIS AND CHARGE SYNDROME IN A PREMATURE INFANT

Julia Moore, OMS-III 1 ; Ariel Antezana, MD; Annie Kirby, PhD, RD, LD, CCMS 2 1 VCOM-Louisiana; 2 CHRISTUS St. Frances Cabrini Hospital, Neuromedical Clinic of Central Louisiana 75 CORTICAL HETEROTOPIA PRESENTING AS FOCAL SEIZURES IN A 19-YEAR-OLD FEMALE

Background: Congenital toxoplasmosis is often subclinical at birth but carries the potential for long-term complications, including intellectual disability, seizures, motor deficits, and sensory impairments if untreated. Classically, it presents with a triad of hydrocephalus, intracranial calcifications, and chorioretinitis. CHARGE syndrome, associated with mutations in the CHD7 gene (chromodomain-helicase-DNA binding protein 7), is a genetic condition characterized by an autosomal dominant inheritance pattern. This syndrome is defined by six congenital anomalies: coloboma of the eye, heart defects, growth or developmental delay, choanal atresia, ear anomalies, and genital anomalies. Here, we present a case of a premature infant born at 34-36 weeks of gestation with findings consistent with both congenital toxoplasmosis and CHARGE syndrome. The infant was delivered to a mother unaware of her pregnancy and placed for adoption shortly after birth. Initial newborn screens for congenital pathology were reported to be within normal limits, but a failed hearing test and suspected congenital glaucoma prompted a further workup. Later genetic testing would confirm a CHD7 mutation, supporting the

diagnosis of CHARGE syndrome, while serologic testing established the diagnosis of congenital toxoplasmosis. The coexistence of these two conditions required specialized medical care, prompting a multidisciplinary approach to improve outcomes and enhance quality of life.

Background: In August 2022, at the age of 19, the patient experienced her first epileptic episode. An electroencephalogram (EEG) performed that year revealed generalized epileptiform discharges in the central parietal region of the brain’s right hemisphere, with multiple areas of focal irritation in the area of epileptic origin. This was later confirmed to be due to unilateral gray matter heterotopia (GMH), which is more commonly bilateral. Magnetic resonance imaging (MRI) depicted a subtle parenchymal nodule and a subcortical tuber in the posterior right parietal lobe, as well as a subcortical tuber in the posterior right temporal lobe. There were no abnormally enhancing brain parenchymal or extra-axial lesions post-contrast seen on imaging. The imaging findings initially suggested tuberous sclerosis, but later genetic testing was negative for this condition. The patient’s seizure activity was eventually stabilized by a medication regimen consisting of Lacosamide 200 mg by mouth twice daily and Brivaracetam 50 mg by mouth twice daily. This case highlights GMH as a cause of complete partial seizures and the need for personalized treatment approaches for the condition, as GMH can cause medication

refractory seizure-like activity. GMH treatment requires non-pharmacological interventions in some cases. This case also depicts managing seizure-like symptoms in patients with GMH often requires multiple treatment trials before obtaining symptom improvement and cannot be addressed with a standardized approach.

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2025 Research Recognition Day