Proteus syndrome complicated by multiple spinal meningiomas

Area of Science:

• Genetics and rare diseases
• Clinical case study
• Medical diagnostics

Background:

• Proteus syndrome is a rare congenital disorder characterized by mosaic overgrowth and malformations affecting multiple tissues.
• Accurate diagnosis can be challenging due to its high variability and infrequent presentation of certain complications.
• Spinal meningiomas are an exceptionally rare manifestation, potentially leading to misdiagnosis.

Observation:

• A 65-year-old Japanese man with Proteus syndrome presented with spinal meningiomas and neural symptoms.
• He also exhibited right leg hypertrophy, sole cerebriform connective-tissue naevus, and macrodactyly.
• Mild cystic and emphysematous lung changes were noted on chest CT, possibly linked to the syndrome.

Findings:

• The patient's presentation, particularly the spinal meningiomas, complicated the diagnosis, initially suggesting neurofibromatosis.
• Despite unusual features, the patient had survived to an advanced age due to otherwise mild clinical manifestations.
• This case highlights the diagnostic challenges posed by atypical Proteus syndrome presentations.

Implications:

• Increased awareness of Proteus syndrome's diverse clinical spectrum, including rare complications like spinal meningiomas, is essential for clinicians.
• Timely and accurate diagnosis of Proteus syndrome facilitates appropriate management and patient care.
• Further research into the genetic underpinnings and varied manifestations of Proteus syndrome is warranted.