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Go to: Clinical Presentation, Light Microscopy, EM

Clinical Presentation

Chief Complaint: Neonatal Jaundice and elevated liver enzymes

Prenatal/Birth History: Unremarkable

Pre-biopsy Physical Examination and Laboratory Findings:

• Alpha-1 antitrypsin phenotype: PiMM (normal)
• Mitochondrial DNA mutation analysis: negative
• Abdominal ultrasound: hepatomegaly and coarse heterogeneous parenchymal echogenicity

Go to: Clinical Presentation, Light Microscopy, EM

Light Microscopic Findings

• Nonspecific findings with:
  • Mildly enlarged hepatocytes with reactive changes (anisonucleosis/multinucleation)
  • Mild intracanalicular and intrahepatocellular cholestasis
  • Mild micro- and macro-vesicular steatosis
  • Scattered single-cell necrosis of the hepatocytes.
  • Mild inflammatory cell infiltrates in portal tracts
  • Minimal portal fibrous expansion with no bridging fibrosis

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Ultrastructural Findings

• Almost complete loss of peroxisomes with rare questionable small-sized ones
• Scattered bile material
• Scattered micro- and macro-vesicular lipid droplets
• Early trilamellar inclusions (two dark thin linear lines and a line of lucency between them) within the fat droplets
• No other storage materials identified

Diagnosis?

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