Resolution of arterial stenosis in a patient with periarterial neurocysticercosis treated with oral prednisone.

Neurocysticercosis is the most common parasitic infection of the central nervous system. Neurovascular complications have been recognized as a frequent complication, with up to 10% of strokes in endemic areas being secondary to neurocysticercosis. We report a case of acute transient left hemichorea in an 11-year-old boy with cerebral cysticercosis involving the right middle cerebral artery. Brain magnetic resonance imaging (MRI) revealed T(2)-weighted hyperintensity and gadolinium enhancement in the area surrounding the M1 segment of the right middle cerebral artery. Magnetic resonance angiography showed severe narrowing of the vessel at this site acutely. After treatment with a 1-month course of oral prednisone and initiation of aspirin, our patient had no recurrence of abnormal movements and follow-up magnetic resonance angiography and transcranial Doppler ultrasonography showed resolution of stenosis of the M1 segment.

A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation.

The point mutation in the mitochondrial genome tRNA(Leu_ (A3243G) is associated with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). We report a boy presenting with respiratory compromise and hypercarbia owing to severe muscle weakness. Historically, he demonstrated idiopathic growth hormone deficiency, retarded bone age, and exercise avoidance. Owing to severe respiratory compromise out of proportion to expected recovery, a metabolic work-up was performed. Muscle biopsy demonstrated abnormal mitochondria structure and heteroplasmic A3243G mutation. Idiopathic growth hormone deficiency and retarded bone age have not been previously reported in MELAS, and these findings delayed testing for mitochondrial disease. This case demonstrates that isolated muscle weakness in the context of other organ system abnormalities should make the investigator consider MELAS. (J Child Neurol 2006;21:77-79).

Sydenham's chorea: not gone but perhaps forgotten.

Sydenham's chorea (SC) is characterised by chorea, emotional lability and hypotonia. In this study, we investigated the incidence and clinical presentation of childhood SC in Ireland (years 2006-2014). Nineteen cases were diagnosed. Five patients had rheumatic fever. An increasing trend with an incidence of 0.23/100 000 is reported. As most referral diagnoses included psychogenic illness, head injury and stroke, modern physicians may not be aware of this age old illness. A review of the manifestations and diagnosis of SC is presented.

Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair illustrates the clinical variability of nemaline myopathy, highlighting the possible influence of environmental and epigenetic factors. Implications for the current classification system and prognosis are discussed.