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Título

Charcot-Marie-Tooth type 1A and POEMS Syndrome: When to investigate acquired causes in hereditary neuropathies

RESUMO

The proband was diagnosed at age 40 with CMT1A. Her symptoms were mild and slowly progressive, as expected for
most CMT1A. At age of 56, her walk deteriorated fast, she started with difficulty to climb stairs and frequent falls,
associated with positive sensory symptoms. Additionally, she lost about 17 kg in 8 months. On examination, first came to our attention the changes in her skin color. She also had hepatosplenomegaly, lymph adenomegaly, papilledema, and generalized edema. NCS revealed a marked worsening in the velocities. A monoclonal IgA lambda peak wasdetected. Lytic lesions were found, and bone marrow biopsy revealed 25% monoclonal plasma cells. Based on clinical and laboratory findings, a diagnosis of POEMS syndrome was made. Systemic chemotherapy followed by autologous bone marrow transplantation was performed. She evolved with dramatic improvement of her motor and sensory symptoms.

In the setting of an inherited neuropathy of slow progression, a sudden clinical decline and a rapid progression, should raise attention for an associated condition. In the case we present, the systemic manifestations and the laboratory investigations permitted a fast diagnosis and treatment of POEMS syndrome. Significant changes in the natural history of an inherited neuropathy should be considered as a red flag for an associated condition

CMT1A is the commonest type of hereditary neuropathy, presenting as a slowly progressive length-dependent sensory and motor neuropathy, areflexia, pes cavus and uniform reduction of NCV. POEMS is a paraneoplastic disorder of plasma cells frequently associated to a sensory and motor demyelinating neuropathy. Distinction of both diseases is important, as early treatment significantly changes POEMS prognosis.