Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination

Area of Science:

• Neurology
• Genetics
• Pathology

Background:

• Infantile Refsum's disease (IRD) is a peroxisomal deficiency disorder.
• Its distinction from neonatal adrenoleukodystrophy (NALD) and Zellweger syndrome (ZS) requires further clarification.
• This study presents the first autopsy report of a clinically and biochemically diagnosed IRD patient.

Observation:

• The patient exhibited micronodular liver cirrhosis, hypoplastic adrenals, and lipid macrophages in the liver, lymph nodes, and brain.
• Cerebral findings included cerebellar granule layer hypoplasia and ectopic Purkinje cells, with mild axonal and myelin reduction.
• Severe retinal and cochlear degenerative changes were noted, while peripheral nerves, skeletal system, and kidneys were normal.

Findings:

• Electron microscopy revealed characteristic bilamellar inclusions in macrophages and other cells, distinct from ZS and NALD.
• The IRD case lacked the active demyelination, cerebral cortical malformations, and adrenal degenerative changes seen in NALD.
• Key differences were observed in liver, adrenal, and central nervous system pathology compared to ZS and NALD.

Implications:

• This autopsy report provides crucial pathological data for understanding IRD.
• Distinguishing IRD from NALD and ZS is essential for accurate diagnosis and management.
• Further autopsy studies are needed to confirm these findings as consistent features of IRD.