EBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report)
https://doi.org/10.17650/2222-8721-2024-14-2-68-77
Abstract
Pathogenetic nucleotide variants at many genetic loci can cause conditions like cerebral palsy. Establishing the etiologic diagnosis is clinically important for optimal disease management and treatment.
The presented family case demonstrates a clinical polymorphism associated with variants in the EBF3 gene that impaired transcription regulation. The described variant c.703C>T (p.His235Tyr) in the EBF3 leads to severe motor and intellectual disability mimicking cerebral palsy.
Timely detection of monogenic diseases hiding under the mask of cerebral palsy will help to establish a timely diagnosis and conduct medical and genetic counseling to prevent recurrent cases in the family.
About the Authors
L. Z. Afandieva
Kazan State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
49 Butlerova St., Kazan 420012
D. D. Gaynetdinova
Kazan State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
49 Butlerova St., Kazan 420012
D. V. I
Far Eastern State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Dmitriy Vitalyevich I
35 Muravyova-Amurskogo St., Khabarovsk 680000
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Review
For citations:
Afandieva L.Z., Gaynetdinova D.D., I D.V. EBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report). Neuromuscular Diseases. 2024;14(2):68‑77. (In Russ.) https://doi.org/10.17650/2222-8721-2024-14-2-68-77
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