Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL): first case reported in Argentina

Neurodevelopmental disorder with variable motor and language impairment (NEDMIAL) is a rare condition associated with mutations in the DHX30 gene, which encodes an RNA helicase involved in regulating the translation and stability of messenger RNA. Fewer than 110 cases worldwide have been documented, with no previous reports in Argentina. We present the case of an 11-month-old girl who was admitted to the hospital for acute gastroenteritis in the context of axial hypotonia since the first months of life, significant motor delay, and swallowing difficulties. After three years of multidisciplinary follow-up and after ruling out common causes of infantile hypotonia, a de novo mutation in DHX30 was confirmed, and the diagnosis of NEDMIAL was established. This case underscores the importance of early diagnosis and an interdisciplinary approach in the management of rare neurological diseases.