PMC3031021_01
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).
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F1
A 1,045-bp sized product was observed for all the samples, including the patient sample and positive controls, harboring deletions involving exons 4 to 10 of either the NEMO or DeltaNEMO (Int3s and L2Rev), whereas a 733-bp product was observed in all tested specimens as an internal amplification control (Rep3s and L2Rev) (Fig. 1A). A 2.6-kb product was observed for the pathological NEMO deletion with a forward primer (In2) and a reverse primer (JF3R) (Fig. 1B).
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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F2
Diffusion weighted imaging (DWI) showed gyriform high-signal-intensity lesions in the parietal, occipital, and frontal lobes of the cerebrum suspected of being bilateral non-hemorrhagic infarctions (Fig. 2A, B). And contrast-enhancement of cerebellar cortex suggested subacute stage of cerebellar infarction (Fig. 2C).
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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F3
On follow-up magnetic resonance imaging (MRI), apparent diffusion coefficient (ADC) showed low-signal-intensity lesions in the corresponding areas (Fig. 3A), and 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 (Fig. 3B).
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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F4
After 3 months, follow-up MRI showed mild encephalomalacia at the sites of the previous infarction in the cortex of both cerebral and cerebellar hemispheres (Fig. 4A). But, severe atrophy of the periventricular white matter and corpus callosum with dilatation of both lateral ventricles was documented (Fig. 4B).
PMC3031021_02