Incontinentia pigmenti: association with anterior horn cell degeneration

Incontinentia pigmenti (IP) has been associated with CNS involvement, including seizures, retardation, motor abnormalities, and malformations in greater than 30% of patients. Motor symptoms include spasticity and hyperreflexia; however, weakness and flaccidity have also been described. Peripheral nervous system neuropathology in patients with IP has not previously been reported. The infant with IP in this report showed generalized weakness due to anterior horn cell degeneration. The neuropathologic findings in both the central and peripheral nervous systems will be reviewed and contrasted to previous reports. Patients with IP and weakness should undergo neurodiagnostic evaluation of peripheral nervous system function.