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A 40-year-old woman reported involuntary and irregular movements of her left toes accompanied by pain. This arose following arthroscopy after a sprained left ankle. She had involuntary flexion–extension and abduction and adduction movements of the hallux and the other toes, with reduced pinprick sensation on the skin web between the left hallux and the second toe. Nerve conduction studies confirmed a deep peroneal nerve axonal injury. We diagnosed the syndrome of painful legs and moving toes, provoked by a peripheral nerve injury. Her symptoms have persisted despite pregabalin, gabapentin and amitriptyline.

A 40-year-old man presented with a 10-year history of excessive sweating on the right side, progressing to absence of sweat, rough skin, heat intolerance, and blurred vision. Examination showed anhidrosis (right side), diffuse areflexia, and Adie tonic pupils. Starch iodine test showed absence of sweating (figure). Pupillary reflex was poor (video 1). Skin biopsy was unremarkable. Ross syndrome was diagnosed.

Cerebellar ataxias may have genetic and nongenetic causes. Early-onset and progressive ataxias are frequently related to an autosomal recessive inheritance. However, some nongenetic ataxias may occur in childhood or young adulthood.1,2

A 29-year-old woman with systemic lupus erythematosus (SLE) developed seizures, renal failure and coma. Neurological examination was unremarkable; eletroencephalogram and spi-nal fluid analysis were normal, anti-DNA antibodies were posi-tive. Brain MRI disclosed cortical hyperintensities (Figure). She received metylprednisolone and cyclophosphamide with no im -provement, but recovered consciousness after plasmapheresis. She evolved with psychosis, cognitive complaints and follow-up MRI disclosed brain atrophy. Positive anti-DNA antibody, plas-mapheresis response and selective grey matter involvement suggest that cortical hyperintensities were secondary to an immune response against neuronal components rather than postseizures changes or vasculitis

A 16-year-old boy presented with a 5-year history of progressive cognitive decline and behavioral change followed by generalized tonic-clonic and myoclonic seizures refractory to many anticonvulsants (valproic acid, phenobarbital, clonazepam, and topiramate) and cerebellar ataxia a year later. The son of consanguineous parents, he had a family history of 2 cousins who both had epilepsy and died at the ages of 15 and 25 years. Laboratory screening tests, including lactic acid, fundus examination, brain neuroimaging, and CSF, were normal. Skin biopsy (figure) revealed periodic acid–Schiff-positive intracellular polyglucosan inclusion bodies in myoepithelial and sweat gland duct cells. These findings are typical of Lafora disease, a fatal autosomal recessive disorder caused by mutations in one of 2 known genes, both located at chromosome 6: EPM2A , which encodes the protein laforin, and EPM2B , which encodes the protein malin. Differential diagnosis must be made with other causes of progressive myoclonic epilepsies, most commonly Unverricht-Lundborg disease (Baltic myoclonus), myoclonus epilepsy and ragged-red fibers syndrome, neuronal ceroid lipofuscinosis, and type 1 sialidosis. There is no treatment, and therapy is mainly supportive and symptomatic.1,2