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case_images: PMC10516543_02
case_images: General appearance at (A) birth, (B) 5 months of postmenstrual age. At birth, there was notable hyperpigmentation, but over time, her skin color improved. She showed normal female genitalia. Perineal skin rashes and ulcerations developed due to chronic diarrhea at 4 months (C).
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case_images: Physical examination showed generalized hyperpigmentation and normal female genitalia ( Figure 1 ). Over time, the buttocks became severely irritated, leading to frequent diaper rash and skin ulcerations ( Figure 1C ).
case_images: Pathology of small bowel biopsy at 18 weeks of her age. The small intestinal biopsy (jejunum) shows rather intact mucosal architecture with minimal inflammatory reaction (A). Microvillus inclusions were not found (B).
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case_images: Additional ultrastructural examination revealed intact mucosal epithelia without microvillus inclusions ( Figure 2 ).
case_images: Renal and adrenal ultrasonography and renal scan. After birth, the parenchymal echogenicity of both the kidneys was increased, showing an undifferentiated corticomedullary junction and tiny cortical cysts. The right kidney was smaller than the left kidney (A). At 20 months of age, there was a small right kidney, but the left kidney growth was relatively preserved, although cortical echogenicity remains increased (B). In the Tc-99m Dimercaptosuccinic acid (DMSA) scan obtained at 6 months, the right kidney uptake is barely visible, indicating nonfunction, while the left kidney function appears unremarkable (C).
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case_images: While the left kidney demonstrated functional recovery with interval growth, the right kidney remained dysplastic and nonfunctioning ( Figure 3 ).