Proteus syndrome complicated by multiple spinal meningiomas.

[proteus syndrome]

Proteus syndrome is a complex and highly variable disorder comprising malformations and overgrowth of multiple tissues . We present a 65 -year -old Japanese man who had multiple spinal meningiomas and accompanying neural symptoms . His right leg showed hypertrophy with cerebriform connective-tissue naevus on the sole , and macrodactyly . Chest computed tomography imaging revealed mild cystic and emphysematous lung changes , which were possibly related to Proteus syndrome . Otherwise , he had no particular cutaneous , musculoskeletal or visceral involvements . Because of the rather insignificant clinical features , he had not been accurately diagnosed in the past and yet had survived to this age . In particular , the presence of spinal meningiomas as an exceptional complication was sufficiently confusing to consider that he had neurofibromatosis . Doctors should be familiar with the diverse clinical pictures of this rare syndrome for its correct diagnosis and proper management .

Diseases
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Diseases presenting "multiple tissues" symptom

proteus syndrome

pyruvate dehydrogenase deficiency

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