[Lethal neurological involvement during incontinentia pigmenti]

We present a case of incontinentia pigmenti associated with lethal neurological involvement.

A newborn, three day-old female child presented with an erythromatous vesicular eruption and epileptic seizures secondary to extensive necrosis of the brain tissue. She died at 13 days of age following a seizure. The genetic analysis concluded in a sporadic case of incontinentia pigmenti.

Thirty-eight cases of incontinentia pigmenti, associated with severe brain damage have been reported in the literature. The neurological manifestations appear rapidly after birth in the form of epilepsy. The seizures can lead to severe psychomotor retardation and, in most cases, precede the installation of motor deficiency. The lesions observed on imaging are hypodensity of varying localization and which do not correspond to any vascularization pattern. Autopsy reveals areas of brain tissue destruction. Recent genetic data suggest two physiopathological hypotheses, which both rely on NF-Kb dysfunction. The cutaneous cells expressing muted chromosome x exhibit a reduced rate of free NF-kB and are more sensitive to the apoptotic signals. Like the cutaneous cells, the brain tissue cells expressing muted chromosome x may be eliminated when becoming apoptotic. Furthermore, NF-kB is one of the links of the transduction system of the messages received by the VEGF receptor, the endothelial growth factor. A perturbation of the transmission of this message might alter cerebral microvascularization.