PMC4854866_01
Overview of patient's chromosome 1 deletion. Chromosome 1 ideogram displaying our patient's 6.9 Mb deletion and the deletion observed in the patient described by Gupta et al.. The OMIM genes common to both deletions include COX20 (FAM36A), HNRNPU, HNRNPU-AS1, EFCAB2, KIP26B, and SMYD3.
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F1
Suspecting an association with the patient's known chromosomal abnormality, the literature was reviewed, and another patient with similar symptoms and a smaller overlapping deletion involving 1q43q44 was identified (Figure 1).
Representative MRI images. (A) T2-weighted axial brain MRI done of this patient at 3 days of age. (B) T2-weighted axial brain MRI done on day 2 of the hospital admission showing diffuse increased T2 signal intensity throughout the left hemispheric gray matter. (C) Diffusion-weighted axial brain MRI done on day 2 of the hospital admission showing diffuse left hemispheric cerebral edema.
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F2
MRI was performed on day 4 and showed worsening left-to-right subfalcine herniation anteriorly, patent arterial and venous supply, and left-sided diffusion restriction (Figure 2). Magnetic resonance spectroscopy (MRS) showed associated significant increase in lactate within the left cerebral hemisphere with decreased N-acetylaspartic acid, choline, and creatinine.