Erdheim-Chester disease with multisystem involvement in a 4-year-old

Area of Science:

• Pediatric rare diseases
• Histiocytosis and related disorders
• Pediatric neurology

Background:

• Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis of unknown etiology, predominantly affecting adults.
• Pediatric ECD is exceedingly rare, posing diagnostic challenges due to its varied and often nonspecific initial presentations.

Observation:

• A 4-year-old boy presented with hemifacial palsy and bone pain, indicative of multisystemic involvement.
• Initial symptoms mimicked other pediatric conditions, delaying the diagnosis of Erdheim-Chester disease.

Findings:

• Radiographic bone imaging revealed characteristic bilateral symmetrical osteosclerosis with atypical osteolytic lesions.
• CT scans demonstrated pulmonary involvement, while MR imaging identified intracranial lesions, confirming multisystemic ECD.

Implications:

• This case underscores the importance of considering rare diseases like ECD in pediatric patients with unexplained neurological and bone symptoms.
• Early recognition and comprehensive imaging are crucial for timely diagnosis and management of pediatric Erdheim-Chester disease.
• Understanding the diverse presentations of ECD in children can improve diagnostic accuracy and patient outcomes.