Peroxisomal disorder associated with ACOX1 gain-of-function mimicking neuroinflammatory disease.
Rocio Victoria Garcia, Hilda Verónica Aráoz, Silvina Gómez Montoya et al.
✦ AI-curated · Sources linked
Case in brief
A 6-year-old girl presented with motor delay, ichthyosiform eczema, gait disturbance, pain, weakness, areflexia, hypomimia, and hearing loss. Initial treatment with intravenous immunoglobulin was ineffective, leading to cognitive and behavioral decline. Genetic testing revealed a heterozygous variant in ACOX1, confirming Mitchell syndrome, a peroxisomal neurodegenerative disorder that can mimic neuroinflammatory diseases.
What made this case unusual
The clinical and radiological features of Mitchell syndrome can initially resemble those of neuroinflammatory diseases, complicating diagnosis.
Diagnostic / clinical pearl
Clinicians should consider Mitchell syndrome in pediatric patients presenting with progressive myeloradiculopathies and polyneuropathies, especially when accompanied by characteristic cutaneous manifestations.
Why it matters
Recognizing the potential for metabolic disorders like Mitchell syndrome to mimic neuroinflammatory conditions is crucial for timely and accurate diagnosis and management.