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Abstract Details

Infantile Seizures and Regression Secondary to Maternal Vitamin B12 Deficiency: A Treatable Neurodevelopmental Disorder
Child Neurology and Developmental Neurology
P10 - Poster Session 10 (8:00 AM-9:00 AM)
8-002
N/A
Metabolic disease is an important and potentially treatable cause of infantile seizures and developmental epileptic encephalopathies (DEEs). While next-generation sequencing (NGS) has transformed diagnostic evaluation,  reliance on molecular testing may overlook biochemical abnormalities secondary to nutritional deficiencies. Early identification of these conditions is critical, as prompt intervention can prevent irreversible neurological injury and developmental delays.
N/A
We report an 11-month-old male who presented with six months of progressive failure to thrive, developmental regression, hypotonia, aversion to solids, and infantile seizures and spasms. Systemically, he developed macrocytic anemia, neutropenia, and oral mucocutaneous lesions. Neuroimaging revealed a thin corpus callosum, and initial EEG demonstrated multifocal epileptiform discharges. Initial metabolic screening showed elevated propionylcarnitine (C3), methylmalonic acid (MMA), and total plasma homocysteine (pHCy), with low-normal serum vitamin B12. Rapid whole exome sequencing was unremarkable, raising suspicion for either an unrecognized inborn error of cobalamin metabolism or secondary B12 deficiency. Further investigation revealed that the child was exclusively breastfed by a mother with undiagnosed pernicious anemia and undetectable vitamin B12 levels. The infant was diagnosed with secondary nutritional cobalamin deficiency. Vitamin B12 supplementation led to rapid normalization of metabolic markers and clinical improvement was observed, including resolution of infantile spasms with corticosteroid therapy, normalization of EEG and brain MRI findings, and improved developmental metrics.

This case highlights that nutritional vitamin B12 deficiency, though rare in developed settings, remains an important and reversible cause of developmental regression, hypotonia, and seizures in infancy especially in exclusively breastfed infants. It underscores the limitations of relying solely on genetic sequencing for DEE evaluation and emphasizes the importance of metabolic testing in all infants with unexplained regression or refractory seizures. Recognition of maternal Vitamin B12 deficiency is essential and should be screened, as early treatment can prevent long-term neurological sequelae and significantly improve developmental outcomes.
Authors/Disclosures
Meghna Rajaprakash, MD (Kennedy Krieger Institute, Neurodevelopmental Disabilities/Child Neurology)
PRESENTER 		Dr. Rajaprakash has nothing to disclose.
Nadav I. Weinstock, MD, PhD Dr. Weinstock has nothing to disclose.
Jacqueline L. Wood, MD (Johns Hopkins University) Dr. Wood has nothing to disclose.
Emily DeBoy, MD, PhD Dr. DeBoy has nothing to disclose.
Alexander Testino, MD (Alexander Testino) Dr. Testino has nothing to disclose.
Carl E. Stafstrom, MD, PhD (Johns Hopkins Hospital - Pediatric Neurology) Dr. Stafstrom has nothing to disclose.
Gerald Raymond, MD (Johns Hopkins) Dr. Raymond has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Bluebird bio. Dr. Raymond has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ionis. Dr. Raymond has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Travere. Dr. Raymond has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant with Dept of HHS.
Hilary R. Vernon, MD, PhD Dr. Vernon has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Moderna. The institution of Dr. Vernon has received research support from Stealth biotherapeutics.