Incontinentia Pigmenti (Bloch‐Sulzberger Syndrome) with Cerebral Malformation

O’Doherty, Neil; Norman, R. M.

doi:10.1111/j.1469-8749.1968.tb02864.x

Cited by 27 publications

(2 citation statements)

References 9 publications

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“…[ 5 ] Moreover, polymicrogyria and cerebral hypoplasia have also been reported to indicate that the cerebral pathology in IP can develop antenatally. [ 6 ] Specifically, polymicrogyria is thought to be acquired brain injury because of abnormal perfusion, oxygenation, or infection during the second trimester of pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Unilateral cerebral atrophy: Severe neuroimaging feature of incontinentia pigmenti without acute encephalopathic state

Samanta

2018

J Pediatr Neurosci

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Incontinentia pigmenti (IP) is a rare X-linked multisystem disease caused because of mutation in the IKBKG (inhibitor of kappa-B kinase gamma, previously NEMO) gene. Involvement of central nervous system is seen in approximately one-third of these patients. Ischemic strokes, symptomatic seizures, and encephalopathy can be seen during neonatal or early infancy age group. Typically, early bilateral brain involvement is seen with periventricular white matter injury, hemorrhagic infarction, and multifocal cortical injury. We reported a patient who did not have early encephalopathic presentation, but presented with right hemiparesis and intellectual impairment. Magnetic resonance imaging of the brain revealed extensive left cerebral white matter volume loss and encephalomalacia with Wallerian degeneration of the left cortical spinal tract. This case highlights a rare presentation of unilateral cerebral atrophy with no definite episode of acute encephalopathy during infancy to suggest pure intrauterine injury. Microvascular occlusion, inflammatory cerebral vasculopathy, and recurrent silent strokes possibly produced this extensive neurologic manifestation antenatally. We also reviewed the complex pathogenic mechanisms involved in IP.

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Section: Discussionmentioning

confidence: 99%

Unilateral cerebral atrophy: Severe neuroimaging feature of incontinentia pigmenti without acute encephalopathic state

Samanta

2018

J Pediatr Neurosci

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“…This hypothesis is also supported by O'Doherty and Norman's neuropathologic reports. 15 Different imaging features have also been recently report-ed. 16,17 They include extensive cortical and subcortical white matter necrosis.…”

Section: Discussionmentioning

confidence: 99%

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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