Cerebral infarction in incontinentia pigmenti: the first report of a case evaluated by single photon emission computed tomography

Kasai, Tokuo; Kato, Zenichiro; Matsui, Eiko; Sakai, Aki; Nishida, Takuji; Kondo, Naomi; Taga, Takashi

doi:10.1111/j.1651-2227.1997.tb08953.x

Cited by 26 publications

(13 citation statements)

References 8 publications

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“…The first includes periventricular leukomalacia, encephalomalacia, or retinal and cerebral vascular involvement compatible with infarction. [9][10][11][12][13][14] These findings support the hypothesis that vascular disease plays a major role in the pathogenesis of the CNS involvement in IP. This hypothesis is also supported by O'Doherty and Norman's neuropathologic reports.…”

Section: Discussionsupporting

confidence: 78%

Nearly Completely Reversible Brain Abnormalities in a Patient with Incontinentia Pigmenti

Lou¹,

Zhang²,

Xiao³

et al. 2007

AJNR Am J Neuroradiol

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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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Section: Discussionsupporting

confidence: 78%

Nearly Completely Reversible Brain Abnormalities in a Patient with Incontinentia Pigmenti

Lou¹,

Zhang²,

Xiao³

et al. 2007

AJNR Am J Neuroradiol

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“…Our neuroradiological findings are unusual, as previous reports from the neonatal period have mentioned: MRI findings in older children include periventricular leukomalacia [31,40], cerebellar abnormalities [35], corpus callosum hypoplasia [31], encephalomalacia [9], multiple cerebral infarctions [26], vascular abnormalities [21,30], unilateral middle cerebral artery occlusion [36], and transient white matter injury [50].…”

Section: Discussionsupporting

confidence: 46%

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti

et al. 2007

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“…43 The other two cases of ischemic CVA occurred at respectively two months and four years of age. 47,48 The infarcts affected the subcortical and deep white matter in 4 cases. 43-45 In three patients, the ischemic stroke affected the large cerebral arteries (middle cerebral artery, anterior cerebral artery) and, in one, it also affected the left cerebellar hemisphere.…”

Section: Neurologic Findingsmentioning

confidence: 99%

Incontinentia pigmenti

Poziomczyk

Recuero

Bringhenti

et al. 2014

An. Bras. Dermatol.

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Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.

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Cerebral infarction in incontinentia pigmenti: the first report of a case evaluated by single photon emission computed tomography

Cited by 26 publications

References 8 publications

Nearly Completely Reversible Brain Abnormalities in a Patient with Incontinentia Pigmenti

Nearly Completely Reversible Brain Abnormalities in a Patient with Incontinentia Pigmenti

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti

Incontinentia pigmenti

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