Year: 2025
Type: article
Study design: Case Report
Abstract: Vanishing white matter disease is an autosomal recessive hereditary condition of brain. It may have variable phenotypic presentations but is more frequently encountered in younger age group. It is characterized by progressive encephalopathy and episodic neurological decline with predominant feature of cerebellar ataxia. Initial symptoms are preceded by a history of minor trauma, infection or stress. We present here a classic case of vanishing white matter disease diagnosed on Magnetic Resonance Imaging, documented in a four-year-old girl who presented with gait disturbance and progressive neurological deficits following a fall from bike.
Authors: Sana Ali, Muhammad Sohaib Nadeem, Amir Shabab, Ujala Ali
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4409995889