Infantile refsum disease: case report

Area of Science:

• Biochemistry
• Genetics
• Radiology

Background:

• Infantile Refsum disease (IRD) is a rare autosomal recessive metabolic disorder.
• It stems from impaired phytanic acid metabolism, with phytanic acid exclusively sourced from diet.
• IRD often manifests symptoms in the neonatal period.

Observation:

• This study presents MR imaging findings in two IRD cases.
• The imaging documented progressive changes over time due to disease advancement.
• Initial diagnosis relied on clinical history, examination, and biochemical data.

Findings:

• MR imaging revealed characteristic changes associated with infantile Refsum disease.
• Longitudinal imaging demonstrated disease progression and its impact on brain structure.
• Correlating imaging findings with clinical and biochemical data aids diagnosis.

Implications:

• Understanding MR imaging patterns in IRD is crucial for early diagnosis and management.
• This case series highlights the utility of serial imaging in assessing disease course.
• Further research into IRD pathogenesis and therapeutic strategies is warranted.