Coma as an acute presentation of adrenoleukodystrophy

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• X-linked adrenoleukodystrophy (X-ALD) is a rare metabolic disorder affecting the adrenal glands and nervous system.
• It is characterized by impaired very-long-chain fatty acid metabolism, leading to accumulation in tissues.
• Clinical manifestations of X-ALD exhibit significant variability, complicating diagnosis.

Observation:

• A 4-year-old male presented with fever, hypotension, and coma, initially suspected as septic shock.
• Rapidly progressing disseminated intravascular coagulopathy and multiorgan failure were noted.
• Distinctive bronze skin pigmentation and posterior demyelination on cranial CT scan suggested X-ALD.

Findings:

• Elevated very-long-chain fatty acid (VLCFA) levels in plasma confirmed the diagnosis.
• An increased C24/C16 ratio in plasma and fibroblast cultures further supported the X-ALD diagnosis.
• Biochemical markers confirmed the metabolic defect characteristic of X-ALD.

Implications:

• Atypical presentations of X-ALD necessitate a high index of suspicion for timely diagnosis.
• Early detection and intervention are critical to mitigate severe neurological damage and multiorgan failure.
• Recognizing unusual symptoms can lead to earlier treatment initiation, improving patient outcomes in X-ALD.