Nearly Completely Reversible Brain Abnormalities in a Patient with Incontinentia Pigmenti

Abstract

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...

Incontinentia pigmenti

“…64 In some patients, changes in the white matter lead to cyst or cavity formation. 40,57,58,64 We also observed an increase in the incidence of Virchow Robin spaces, delayed myelination, ventricular dilatation, cerebral atrophy and hypoplasia of the corpus callosum. 40,42,45,51,53,54,58,59,60,63,65,66 …”

“…White matter anomalies were identified in 27 of 43 patients for whom MRI data were recorded. 40-45,49,53-56,58-60,62-64 The most common alteration is periventricular leukomalacia, but changes in subcortical white matter are also frequently found. In one patient, a small lesion was detected in the semi-oval center, without any corresponding clinical abnormality.…”

Incontinentia pigmenti and hypomelanosis of Ito

“…The few reported cases with an acute encephalitis-like pattern but no proven viral infection that showed extensive cortical necrosis on MRI, raise the question of an inflammation process similar to that observed in IP skin stage 1 (Siemes et al, 1978;Wolf et al, 2005;Lou et al, 2008). Hauw et al (1977) reported a 3-month-old infant with neonatal seizures and necrotic white matter and adjacent cortex.…”

“…MRI at age 8 revealed persistent periventricular and subcortical T2 hyperintensities bilaterally, with no correlation between imaging abnormalities and clinical outcome. Similarly, Lou et al (2008) reported an IP neonate who developed focal clonic seizures at 15 days of life, with extensive irregular patchy abnormalities in the periventricular and subcortical white matter in both hemispheres (at 34 days of life), and ventricular enlargement with multiple cystic lesions (at 18 weeks of life). At 6 months of life she experienced no further seizures.…”

Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti

“…4-11 Brain magnetic resonance imaging (MRI) in these infants with early central nervous system involvement reveals periventricular white matter injury, hemorrhagic infarction, and scattered cortical injuries that do not have a clear vascular distribution. 5,8,10-13 …”