A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti

Abstract

Incontinentia Pigmenti (IP), (OMIM # 308300), is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system. It is usually lethal in males; the disease has variable expression in an affected female. We report the case of a 6 month old girl who presented at Sultan Qaboos University Hospital, Oman, with neonatal seizures and hypopigemented/hyperpigmented skin lesions. She had multiple ophthalmic abnormalities and neurological manifestations which are discussed in this report.

Keywords: Case report; Hypomelanosis of Ito; Incontinentia Pigmenti (IP); Neurologic diseases; Oman; Ophthalmic; Seizures.

Figure 1a:

Magnetic resonance imaging scan: Sag T1W SE, midline. There is hypoplasia of the corpus callosum. Optic chiasm, pituitary gland and midbrain are grossly normal.

Figure 1b:

Magnetic resonance imaging scan: axial T2W SE at level of basal ganglia. There is bilateral hyperintense signal abnormality in the periventricular white matter associated with brain atrophy. No imaging findings of acute ischemia or cortical necrosis

Figure 2a:

RetCam fundus photo of the right eye showing large disc cupping and epiretinal pseudoglial tissue superior to the fovea (arrow)

Figure 2b:

RetCam fundus photo of the right eye showing large disc cupping and epiretinal pseudoglial tissue superior to the fovea (arrow)