PMC4820213_01
Hematoxylin-eosin staining showed the different sizes of muscle fiber, and lots of basophilic cavitation (arrow) contains amorphous materials in muscle fiber (A). (B) is normal. Acid phosphatase staining showed the increase of acid phosphatase activity, which caused the vacuolation turn ragged-red (arrow), and enzyme activity of the vacuoloid unchanged muscle fiber got a slight increase, which was stellate distributed (C). (D) is normal. (x400).
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The activity of acid phosphatase increased on acid phosphatase staining, which conformed to acid maltase deficiency (Figure 1).
Craniocerebral CT scan (D) and CTA (A-C) show spherical, high-density shadow to the right of the basilar artery. The size was about 3.0 cmx2.8 cm. P1 of the left posterior cerebral artery was dilated, and the vertebral artery showed a shift to the left due to compression.. Abbreviations: CT, computed tomography; CTA, computed tomographic angiography.
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Head and neck computed tomographic angiography showed a cystic aneurysm in basilar artery (~3.0x2.8 cm in size), and expanded P1 segment in left posterior cerebral artery (Figure 2).
Gene analysis revealed heterozygous mutations involving exon 4 (c.827-845del19) and exon 16 (c.2238G>C) in the patient. The patient's mother was heterozygous for c.827-845del19 mutation in exon 4. The patient's father was heterozygous for c.2238G>C mutation in exon 16.
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The patient's father was heterozygous for c.2238G>C mutation in exon 16 (Figure 3).