Improved Neurologi̇cal and Functi̇onal Outcomes After Si̇x Months of Symptomati̇c and Rehabi̇li̇tati̇ve Therapy İn a Pati̇ent Wi̇th Warburg Mi̇cro Syndrome: a Rare Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Warburg Micro Syndrome (WMS) is a rare autosomal recessive neurodevelopmental disorder characterized by congenital cataracts, severe motor and intellectual impairment, microcephaly, epilepsy, and distinctive ocular anomalies. This case report presents a five-year-old male born to consanguineous parents, harboring a homozygous RAB3GAP1 splice-site variant (IV23+16>1), who initially exhibited global hypotonia, absent head control, unresponsiveness to auditory-visual stimuli, and myoclonic seizures, along with previously corrected congenital cataracts. Neuroimaging revealed mild corpus callosum hypoplasia, while electroencephalography showed multifocal epileptiform discharges. The patient underwent a six-month multidisciplinary intervention combining levetiracetam, vitamin D supplementation, and intensive neurorehabilitation. This approach resulted in remarkable developmental gains including independent head control, assisted sitting, improved social responsiveness, initiation of expressive speech (3–5 words), and seizure remission with a significant reduction in EEG abnormalities. This case not only expands the phenotypic spectrum associated with RAB3GAP1 mutations but also underscores the therapeutic potential of early and targeted rehabilitation in genetically severe neurodevelopmental syndromes. Moreover, it highlights the need for further functional validation of deep intronic splicing variants and for the development of comprehensive genotype–phenotype databases to guide personalized intervention strategies.
Author: Gunel Umid Latifova
Institution: Azerbaijan Medical University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7110806019
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