Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions

Area of Science:

• Neonatal dermatology
• Pediatric genetics
• Rare metabolic disorders

Background:

• The "blueberry muffin" appearance in newborns describes a generalized purpuric rash caused by dermal erythropoiesis.
• This finding is commonly associated with TORCH (toxoplasmosis, other infections, rubella, cytomegalovirus, and herpesvirus) complex infections.
• Differential diagnoses for this rash include infections, neoplasms, vascular lesions, and metabolic disorders.

Observation:

• A case of perinatal-lethal-type Gaucher disease is presented.
• The infant exhibited cholestasis, hepatosplenomegaly, and persistent thrombocytopenia.
• The neonate also displayed characteristic blueberry muffin-like skin lesions.

Findings:

• This report identifies Gaucher disease as a potential, albeit rare, cause of the "blueberry muffin" rash in neonates.
• The specific presentation involved severe systemic manifestations alongside the characteristic skin findings.
• This case expands the known clinical spectrum of perinatal-lethal-type Gaucher disease.

Implications:

• Highlights the importance of considering metabolic disorders, such as Gaucher disease, in the differential diagnosis of neonatal purpuric rashes.
• Suggests that "blueberry muffin" lesions may be an early indicator of underlying systemic diseases beyond TORCH infections.
• Emphasizes the need for comprehensive diagnostic evaluation in neonates presenting with this dermatological sign and associated systemic symptoms.