We report a 40-year-old woman with systemic lupus erythematosus (SLE) and associated inflammatory polyarthritis who presented with acute facial dystonic spasms. Her speech was also affected. An MRI brain showed bilateral symmetrical basal ganglia signal change on T2. This movement disorder was due to an acute manifestation of her lupus. Her symptoms resolved rapidly following treatment with (or...

We report here a Chinese female infant with severe hypoplasia of the cerebellum and pons, and heterozygous mutation (c.18G >T, p.E6D) in the TSEN54 gene. This mutation was not present in her parents and the 100 Chinese controls, which proved to be a de novo missense mutation. MR imaging of the patient revealed severe hypoplasia of the bilateral cerebellar hemispheres and vermis with moderate fl...

Aicardi syndrome is a severe congenital disorder characterised by infantile spasms, chorioretinal lacunae, and agenesis ofthe corpus callosum. We present the case of a 10-year-old girl whose symptoms included a poorly controlled seizure disorder, typical lacunar retinopathy, partial hypoplasia of the corpus callosum, and mild developmental delay. This case alerts ophthalmologists to the presenc...