Dados do Trabalho

Título

Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Mimicking Sepsis in Stiff-Person Syndrome

RESUMO

Case Report. A 65-year-old female patient, previously diagnosed with anti-GAD positive Stiff Person Syndrome (SPS), on treatment with monthly corticosteroid cycles, was seen due to a complaint of pustular skin lesions after completion of the last methylpredisolone infusion. She was treated with topical corticosteroid and anti-histaminic agents, but with no improvement was observed. About three weeks later, she developed high fever, confusion, prostration, and worsening of generalized muscle stiffness. Physical examination upon admission evinced significant limb stiffness and to diffuse papular lesions in the pelvic region, dorsum, and buttocks, with associated hyperemia.
She was admitted with a hypothesis of sepsis of cutaneous focus, and empirical antibiotic therapy was initiated. Laboratory tests showed worsening of the renal function and mild leukocytosis. The patient evolved with generalized tonic-clonic seizures, worsening of hyperthermia, presenting a temperature of 41 Celsius degree, despite the use of high dose antipyretics, in parallel with decreased level of consciousness, requiring orotracheal intubation.
Antibiotic therapy was optimized to cover central nervous system infection, but all infectious screening with blood cultures, cerebrospinal fluid analysis, and chest and abdominal imaging tests were negative. White blood cell count and C-reactive protein were within normal limits, although he persisted with hyperthermia maintained between 39 and 40 degrees.
Considering infectious causes excluded as the etiology of the decompensation, it was decided to schedule immunotherapy treatment considering the diagnosis of Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM), and the patient underwent plasmapheresis with marked and clinical improvement.

Discussion and Final Comments. PERM is a rare SPS spectrum disorder characterized by severe prognosis and high mortality. Clinical manifestation include level of consciousness impairment, dysautonomia and brainstem dysfunction along with typical SPS phenomenom . Diagnosing PERM might be challenging, since some of these manifestations may overlap with other more commom diseases, such as infections. Neurologists should be aware of PERM as it is a potentially treatable condition; patients often improve with aggressive immunotherapy.

Palavras Chave

Stiff-person syndrome ; PERM ; immunotherapy