SUMMARY:We report a case of incontinentia pigmenti with reversible cortex and subcortical white matter necrosis-like presentation by MR imaging. The reversible changes in follow-up imaging of the patient with incontinentia pigmenti suggest a course of natural repair of inflammation or cerebrovascular disease. Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous syndrome, which primarily affects ectodermal tissues, such as the skin, eyes, teeth, and the central nervous system (CNS).1,2 Skin features are diagnostic and typically occur in 4 stages. 3 We report a patient with IP with reversible extensive subcortical white matter involvement as seen on serial MR imaging, proton MR spectroscopy ( 1 H-MR spectroscopy), and diffusion tensor imaging (DTI). Drawing from a literature review, we tried to address the possible etiology of the imaging findings. Case PresentationA full-term girl was born with a weight of 2550 g and Apgar scores of 10 at 1 and 5 minutes. There was no known family history of incontinentia pigmenti. A rash was found on her trunk at the twelfth day of life. Three days later, she developed seizures consisting of focal clonic jerking of her arms; each seizure lasted several minutes. She was referred to our neonatal unit because of this. Physical examination disclosed skin lesions and bilateral conjunctivitis. Her skin showed erythema, papulae, and bullae distributed on her lower limbs and trunk. Hyperpigmented macules along the Blaschko lines were present on both thighs. Hair and nails and results of routine laboratory examinations were normal. Skin biopsy demonstrated intraepidermal vesicles and spongiotic dermatitis with the presence of eosinophils and a superficial lymphocytic infiltrate. The findings supported the diagnosis of IP.On day 19, the neonate underwent brain CT, with normal findings. MR imaging revealed a small focus of T1 signal-intensity abnormality in the left parietal lobe (Fig 1A).1 H-MR spectroscopy was performed from the right parietal lobe, which had a normal appearance on MR imaging. Single-voxel (SV) MR spectroscopy with TEs of 35 and 144 ms showed high choline (Cho), possible lactate (Lac) peak, and decreased N-acetylaspartate (NAA) (Fig 1B, -C). A second MR imaging was performed at day 34, when cutaneous pigmentation was most prominent (Fig 2A). This study showed extensive irregular patchy abnormalities in the periventricular and subcortical white matter in both hemispheres (Fig 2B). SV-MR spectroscopy, again in the right parietal lobe, showed findings similar to the previous one. Multivoxel MR spectroscopy with a long TE (144 ms) showed reduction of the NAA resonance and increased Cho peak ( Fig 2C, -D).Follow-up MR imaging at 18 weeks of life revealed ventricular enlargement and multiple cystic lesions (Fig 3). To evaluate the development of white matter, we used DTI with b ϭ 750 s/mm 2 and 15 directions at day 34 and at 18 weeks. In comparison with the initial study, the latter showed fractional anisotropy (FA) values in the white matter of bilateral fr...
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