Extensive cerebral infarction in the newborn due to incontinentia pigmenti.
BACKGROUND
Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal multisystem disorder characterized by skin lesions following Blaschko lines. In almost all patients the skin is involved and in 30-50% the central nervous system (CNS) is. Vascular occlusive phenomena probably play a role in CNS involvement. Whether these vascular changes are based on macro- or microvascular disease in the neonatal presentation is not fully understood.


METHODS
We describe two patients with IP with neonatal seizures related to cerebral infarction. In comparison, we reviewed reports of ischaemic cerebrovascular injury in neonatal IP.


RESULTS
No descriptions of documented large artery occlusion in neonatal IP was found in the literature. One of our patients showed striatal arteriopathy, never described before in IP. Extensive injury in one of our cases was heterogeneous, mixing healthy with diseased areas within large arterial fields.


CONCLUSIONS
We postulate that neonatal cerebral infarction in IP is a macrovascular disorder of medium sized or small arteries. The pattern of arterial involvement might follow hypothetical brain Blaschko lines. The extent of cerebral involvement probably results from genetic mosaicism in which Lyonisation leads to endothelial apoptosis, similar to the process in the skin.
Maingay-de Groof
Femke
F
Neonatal Intensive Care Unit, Erasmus MC Sophia Rotterdam, The Netherlands. f.degroof@erasmusmc.nl
Lequin
Maarten H
MH
Roofthooft
Daniella W
DW
Oranje
Arnold P
AP
de Coo
Irenaeus F
IF
Bok
Levinus A
LA
van der Spek
Peter J
PJ
Mancini
Grazia M
GM
Govaert
Paul P
PP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology; D001158:Arteries / Q000000981:diagnostic imaging / Q000473:pathology; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D002544:Cerebral Infarction / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications* / Q000175:diagnosis; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D012196:Review Literature as Topic; D012640:Seizures / Q000209:etiology / Q000473:pathology; D014463:Ultrasonography