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Carbamazepine (CBZ) is the gold standard antiepileptic drug (AED) for focal onset seizures. Despite CBZ being the benchmark AED, with readily available therapeutic drug monitoring, patients presenting with recurrent secondarily generalized tonic-clonic (or cluster) seizures or generalized tonic-clonic status epilepticus (SE) are primarily treated with other long-acting agents. The aim of the study was to examine the potential use of rectal (PR) CBZ as alternative long-acting treatment to parenteral AEDs following the termination of cluster seizures or SE with acute intravenous therapies. Oral CBZ syrup was given PR using 400-mg equivalent aliquots. Serum CBZ levels were requested after administration to confirm achievement of minimum therapeutic levels (total CBZ>20μmol·L(-1)). Where levels were subtherapeutic, the procedure was repeated using 400-mg CBZ bolus aliquots until therapeutic levels were achieved. Seven patients received PR CBZ to manage cluster seizures or SE following the initial termination of acute seizures with IV therapies including benzodiazepines. Six patients had no prior history of seizures, and 1 patient with a prior history was not taking AED therapy at the time of presentation. All patients subsequently remained seizure-free, and therapeutic CBZ levels were achieved in 6 of the 7 subjects within 5-10h of initial CBZ dosing. In conclusion, the present study reports 7 patients who were safely and effectively treated with PR CBZ, which proved to be a viable and safe alternative to parenteral AEDs for maintenance of seizure freedom.

We report a 37-year-old woman with a 2 month history of proximal muscle weakness and extremely high creatine kinase (21,808 U/L) due to necrotizing auto-immune myositis (NAM) in association with anti-synthetase syndrome. Myositis-specific auto-immune antibody panel was positive for anti-Signal recognition particle and anti-PL-12. CT scan of the chest confirmed interstitial lung disease. Prednisolone, intravenous immunoglobulin and cyclophosphamide therapy was given with gradual improvement. This patient is notable for the unusual combination of NAM and anti-synthetase syndrome with the rare finding of two myositis-specific autoantibodies, which directed testing for associated extramuscular features and management with more aggressive immunotherapy.

The anti-synthetase syndrome is a rare, autoimmune multi-system disorder of unclear etiology characterized by a variable combination of inflammatory myositis, interstitial lung disease, Raynaud’s phenomenon and arthritis. Serum autoantibodies to aminoacyl-tRNA synthetase (Anti-PL-12) are often present. The prognosis of the disease is largely determined by the pulmonary involvement. Prednisone with or without azathioprine and methotrexate have been used for myositis, while cyclophosphamide should be considered for severe pulmonary involvement. Anti SRP associated necrotizing autoimmune myositis is part of the spectrum of autoimmune inflammatory myopathies. It is characterized by the presence of signal recognizing particle antibodies which may occur in isolation or in some cases, in conjunction with other serum auto-antibodies. We describe a rare and interesting case of a 37 year old female who presented with a progressive proximal muscle weakness involving the upper and lower limbs in association with lethargy. She also displayed Raynaud’s phenomenon and complained of exertional shortness of breath. She had extremely high creatine kinase levels (22,000) U/L and electrophysiological confirmation of an active myositis. She had positive anti SRP antibodies and muscle biopsy findings of a necrotizing autoimmune myositis. In addition, she had anti-PL-12 antibodies and evidence of interstitial lung disease on pulmonary function tests and CT lung imaging. Her constellation of symptoms, signs and investigative findings were consistent with an anti-synthetase syndrome. She was treated initially with methylprednisone, azathioprine and IVIG without significant improvement. Her myositis and ILD partially responded to IV cyclophosphamide therapy. This case demonstrates a unique patient with anti-synthetase syndrome in association with anti-SRP and anti-PL-12 myositis specific antibodies. It highlights the use of myositis-specific antibody testing in assisting the diagnosis and choice of therapy. Further studies are required to determine the occurrence of multiple myositis specific antibodies in necrotizing myopathies and if their presence correlates with prognosis and treatment response.