Effectiveness of Corticosteroid Therapy for Acute Neurological Symptoms in Incontinentia Pigmenti

BACKGROUND: Incontinentia pigmenti is a rare neurocutaneous disorder that may result in neurological symptoms in addition to its characteristic skin rashes. The pathogenesis of central nervous system disorders in incontinentia pigmenti remains unclear, but it has been suggested that vascular abnormalities and inflammatory processes may play important roles. Notably, there is no established treatment for central nervous system disorders in incontinentia pigmenti. We report a neonate with acute neurological symptoms of incontinentia pigmenti who was effectively treated with corticosteroid therapy. We review the literature and discuss the pathophysiology, diagnosis, and treatment of acute central nervous system disorders in incontinentia pigmenti. PATIENT DESCRIPTION: A 15-day-old girl with incontinentia pigmenti experienced neurological symptoms such as decreased level of consciousness and a weak sucking reflex. Magnetic resonance imaging revealed multiple cerebral infarctions. We administered corticosteroid therapy, and the symptoms improved immediately and significantly. CONCLUSION: We suggest that corticosteroid therapy may be an effective treatment during the acute phase of central nervous system dysfunction due to incontinentia pigmenti. It is important to determine the existence of acute phase lesions on magnetic resonance imaging when neurological symptoms occur or worsen.