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A 36-year-old man, treated for epilepsy since early childhood, was hospitalized for nocturnal paroxysmal disorders. The EEG-EKG-video monitoring revealed complex partial seizures with bradycardia secondary to a sino-auricular block. The occurrence of autonomic disturbances during seizures is well known, mostly described in temporal epilepsy. Ictal bradycardia, with asystole, has been unfrequently reported, while tachycardia appears more common. A systematic investigation of cardiac data synchronized with EEG recordings, especially in case of aspecific fainting, could give a more accurate diagnosis and treatment, and so reducing sudden unexplained death in epileptic patients.

A 44-year-old maniacodepressive woman developed acute encephalopathy due to the association of lithium carbonate and haloperidol. She was treated with lithium salts for many years and the serum level of lithium was within the therapeutic range. The encephalopathy was worsened by hyperthermia, dehydration, and reintroduction of haloperidol, 5 days after the first discontinuation of the neuroleptic. The clinical features were characterized by a persistent cerebellar syndrome, more than one year after the interruption of these medications.

We report a late onset form of polysaccharide myopathy with progressive limb girdle muscles weakness, without cardiomyopathy. Muscle biopsy showed a vacuolar myopathy in type 1 fibres. The PAS positive diastase resistant deposits were made of filamentous material at electron microscopy similar to long chain glycogen. Muscle glycogen levels and glycogen metabolism enzymes were normal. Numerous abnormal mitochondrial with paracrystalline inclusions were observed around the storage material. Twelve patients with polysaccharide amylopectin-like storage myopathy have previously been reported. This disease must be distinguished from other diseases with polysaccharide accumulation such as branching enzyme deficiency and some cases of phosphofructokinase deficiency. In other disorders, no deficient enzymes in the glycogen pathway was found. Some of them show systemic storage (Lafora disease, adult polyglucosan body disease). Corpora amylacea, Bielchowsky bodies and basophilic degeneration of the myocardium represent localised depositions. A few inclusions can also be observed in hypothyroid myopathy. In polysaccharide myopathy allosteric inactivation of phosphofructokinase by a mitochondrial dysfunction is considered by analogy with cases of polysaccharide storage related to phosphofructokinase deficiency.

Exercise intolerance with slight myalgia worsened by a cold environment resulted in the diagnosis of CPT deficiency in a young boy with no family history. Recurrent myoglobinuria is not the hallmark of such a deficit. Biochemical examination of muscle biopsy in suggestive situations is the way to diagnosis. Concomitant myoadenylate deficiency in this patient could represent a precipitating factor. Partial CPT deficiency in all the patients reported was first explained through the mechanism of intra mitochondrial fatty acid transport but raises questions about the regulation of CPT synthesis.

The observation of a 20 years old patient with a periodic paralysis is reported. During a crisis induced by 20 U of insulin and 150 g of glucose, transient hyperaldosteronism was found and the muscular biopsy performed in the left biceps brachii, disclosed vacuoles with a double membrane. The significance of these findings is discussed.