PMC5889855_01
(a) Esophageal squamous mucosa with upper keratinocytes showing "cleared out" cytoplasms, characteristic for glycogenic acanthosis, and a rare eosinophil, consistent with minimal reflux (H&E 20x). (b) PAS without diastase digestion showing granular magenta positivity in keratinocytic cytoplasms of the upper half of the squamous mucosa, typical for glycogenic acanthosis (PAS 20X). (c) PAS with diastase digestion showing absence of the positive magenta granularity in the keratinocytic cytoplasms of the upper half of the squamous mucosa, confirming glycogenic acanthosis (PASD 20x).
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fig1
She was diagnosed with esophageal glycogenic acanthosis (Figures 1(a)-1(c)) found on upper endoscopy performed at age twenty-two months for symptoms of reflux and feeding difficulties.
PMC5889855_02
Upper endoscopy: (a) normal distal esophagus; and (b-d) gastric mass with pedicle.
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The size of the mass was difficult to estimate on endoscopy but appeared to be 2 cm in width and 3 cm in length on a pedicle that was about 1.5 cm at the base (Figures 2(a)-2(d)).
(a) Gastric biopsy showing spindled cells in fascicles with slightly atypical nuclei in the mucosal lamina propria (H&E 20X). (b) Gastric biopsy with spindle cells in the lamina propria showing strong S100 protein positivity (S100 protein 20x).
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Microscopy of the biopsied gastric mass was interpreted to be a ganglioneuromatous proliferation with small foci in the lamina propria of spindled cells in fascicles with slightly atypical nuclei, positive on S100 protein and SOX-10 immunohistochemically stained tissue sections (Figures 3(a) and 3(b) a single, well-formed ganglion cell was noted in one of the areas of spindle cells, positive for neuron specific enolase (NSE) by immunohistochemistry (Figures 4(a) and 4(b)).
(a) Gastric biopsy with only ganglion cell amongst spindle cells, tip of black arrow (H&E 20X). (b) Neuron specific enolase (NSE) marking the single ganglion cell in gastric biopsy (NSE 40x).
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fig4
Microscopy of the biopsied gastric mass was interpreted to be a ganglioneuromatous proliferation with small foci in the lamina propria of spindled cells in fascicles with slightly atypical nuclei, positive on S100 protein and SOX-10 immunohistochemically stained tissue sections (Figures 3(a) and 3(b) a single, well-formed ganglion cell was noted in one of the areas of spindle cells, positive for neuron specific enolase (NSE) by immunohistochemistry (Figures 4(a) and 4(b)).
Partial gastrectomy specimen with ganglioneuromatous proliferation extending from the submucosa into the lamina propria splaying oxyntic mucosal glands. A few of the ganglion cells are annotated with arrows (H&E 4x).
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Three weeks later, a partial gastrectomy was undertaken to completely remove the mass, confirmed as a ganglioneuromatous proliferation of the diffuse ganglioneuromatosis type (Figures 5 and 6(a) and 6(b)).
(a) Frozen section taken at time of partial gastrectomy showing muscularis propria with a myenteric ganglioneuromatous proliferation. Arrows mark some of the ganglion cells (H&E 4x). (b) Higher power image of the gastric resection at frozen section confirming a myenteric ganglioneuromatous proliferation. Ganglion cells marked with arrows (H&E 10x).
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fig6
Three weeks later, a partial gastrectomy was undertaken to completely remove the mass, confirmed as a ganglioneuromatous proliferation of the diffuse ganglioneuromatosis type (Figures 5 and 6(a) and 6(b)).