J Korean Med Sci.  2011 Feb;26(2):308-311. 10.3346/jkms.2011.26.2.308.

Incontinentia Pigmenti in a Newborn with NEMO Mutation

• Lee Y
• Kim S
• Kim K
• Chang M

• KMID: 1782125
• DOI: http://doi.org/10.3346/jkms.2011.26.2.308

Abstract

Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-kappaB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and subsequent encephalomalacia as well as brain atrophy. Skin biopsy found it was consistent with the vesicular stage of IP. Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with IP. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene.

Keyword

Incontinentia Pigmenti; NEMO Protein; Brain Infarction; Seizures; Infant, Newborn

MeSH Terms

Asian Continental Ancestry Group
Brain/pathology
DNA Mutational Analysis
Female
Humans
I-kappa B Kinase/*genetics
Incontinentia Pigmenti/*genetics/pathology
Infant, Newborn
*Mutation
Skin/pathology

Figure

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  Fig. 1 PCR-based method to discriminate NEMO gene deletion. (A) Multiplex PCR 1045-bp band corresponding to DNA amplification between Int 3s and L2 Rev primers indicates the presence of the common rearrangement in IP patient only. (B) Confirmatory long-range PCR shows the 2.6-kb band amplified by a forward primer (In2) and a reverse primer (JF3R).

• 

  Fig. 2 Initial MRI. (A, B) DWI showed gyriform high-signal-intensity lesions in the parietal, occipital, and frontal lobes of the cerebrum suspected of being bilateral non-hemorrhagic infarctions. (C) Contrast-enhancement of cerebellar cortex suggested subacute stage of cerebellar infarction.

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  Fig. 3 Follow-up MRI obtained on 10th day of birth. (A) ADC showed low-signal-intensity lesions in the corresponding areas. (B) DWI showed more decreased signal-intensity of previous lesions and newly developed high-signal-intensity lesions in both cerebral hemispheres, especially in the periventricular white matter and corpus callosum.

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  Fig. 4 Follow-up MRI obtained after 3 months. (A) Coronal T1-weighted MRI showed mild encephalomalacia at the sites of the previous infarction in the cortex of both cerebral and cerebellar hemispheres. (B) Axial T1-weight MRI showed high signal lesions from gliosis in periventricular white matter and very thin corpus callosum with dilatation of both lateral ventricles suggesting brain atrophy.

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