Unusual Neonatal Presentation of Incontinentia.doc

Perinatal/Neonatal Case Presentation Journal of Perinatology (2005) 25, 289–292. doi:10.1038/sj.jp.7211250 Unusual Neonatal Presentation of Incontinentia Pigmenti with Persistent Pulmonary Hypertension of the Newborn: A Case Report Sunit?Godambe?MRCPCH (UK)1, Patrick?McNamara?MRCPCH (UK)2, Manju?Rajguru?DNB1 and Jonathan?Hellmann?FRCPC2 1Department of Pediatrics (S.G., M.R.), Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada 2Department of Pediatrics (P.M., J.H.), Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Correspondence: Patrick McNamara, MRCPCH, Department of Pediatrics, Hospital for Sick Children, 500 University Avenue, Toronto, Ontario, Canada M5G 1X8. Top of page Abstract Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a multisystem disorder with classical changing skin lesions. The other systems that are involved include the central nervous system, eye, hair, teeth, musculoskeletal system and, occasionally, the cardiovascular system. We report a neonate with a diagnosis of incontinentia pigmenti who presented at birth with pulmonary hypertension. This presentation has not been described in the literature. Top of page INTRODUCTION Incontinentia pigmenti (IP), first described by Garrod in 1906,1 is a multisystem disorder inherited in an X-linked dominant fashion with lethality in males.2 The skin lesions are diagnostic and occur in four stages, all of which may not be observed in one patient. Other systems that may be involved include the central nervous system (mental deficiency, microcephaly, seizures); the eyes (ischemia of peripheral retinal field, retinal dysplasia, retinal detachment, pigment retinopathy, retrolental dysplasia); the hair (alopecia); the musculoskeletal system (hemivertebrae, kyphoscoliosis, syndactyly, hemiatrophy) and the teeth (hypodontia, microdontia and dysplasia).2, 3, 4 A few patients with IP have presented with cardiovascular anomalies including left ventricular endo