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AIM To investigate cerebral blood flow (CBF) in acute episodes of Leigh syndrome compared with basal state in patients carrying pathogenic mitochondrial disease gene variants responsible for neurometabolic disorders. METHOD Arterial spin labelling (ASL) magnetic resonance imaging (MRI) sequences were used to measure CBF in 27 patients with mitochondrial respiratory chain enzyme deficiencies, ascribed to pathogenic variants of reported disease genes who were undergoing either urgent neuroimaging for acute episodes of Leigh syndrome (Group I: 15 MRI, seven females, eight males; mean age 7y; range 7mo-14y) or routine brain MRI (Group II: 15 MRI, eight females, seven males; mean age 5y 2mo; range 2mo-12y). RESULTS Patients displayed markedly increased CBF in the striatum (2.8-fold greater, p

Aim Posterior fossa strokes account for about 10% of ischaemic strokes in children. Although motor and dysautonomic symptoms are common, to our knowledge cognitive and affective deficits have not been described in the paediatric literature. Our aim, therefore, was to describe these symptoms and deficits. Method In a retrospective study, we included all cases of posterior fossa strokes in children occurring at a single centre between 2005 and 2007, and investigated cognitive and affective deficits. Results Five males aged 3 to 14 years met the inclusion criteria. They all presented very early with mood disturbances: outbursts of laughter and/or crying and alternating agitation or prostration that disappeared spontaneously within a few days. Persistent cognitive deficits were also diagnosed in all five: initial mutism, then anomia, followed by comprehension deficiency and deficiencies of planning ability, visual–spatial organization, and attention. Despite early and intensive rehabilitation, recovery from these cognitive deficits was slow and sometimes incomplete, and on follow-up they proved to be more disabling than the motor symptoms. Interpretation These findings are similar to the cerebellar cognitive affective syndrome described in adults, and quite similar to the language and affective deficits observed in children after surgery for posterior fossa tumour. This is consistent with the role of the cerebellum and brainstem in affective and cognitive processes from early development.

Aim To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency. Method Twenty-two participants with enzymologically and genetically confirmed PDHc deficiency were analysed for clinical and imaging features over a 15-year period. Results Four groups were identified: (1) those with neonatal encephalopathy with lactic acidosis (one male, four females; diagnosis at birth); (2) those with non-progressive infantile encephalopathy (three males, three females; age at diagnosis 2–9mo); (3) those with Leigh syndrome (eight males; age at diagnosis 1–13mo); and (4) those with relapsing ataxia (three males; 18–30mo). Seventeen mutations involved PDHA1 (a hotspot was identified in exons 6, 7, and 8 in seven males with Leigh syndrome or recurrent ataxia). Mutations in the PDHX gene (five cases) were correlated with non-progressive encephalopathy and long-term survival in four cases. Interpretation Two types of neurological involvement were identified. Abnormal prenatal brain development resulted in severe non-progressive encephalopathy with callosal agenesis, gyration anomalies, microcephaly with intrauterine growth retardation, or dysmorphia in both males and females (12 cases). Acute energy failure in infant life produced basal ganglia lesions with paroxysmal dystonia, neuropathic ataxia due to axonal transport dysfunction, or epilepsy only in males (11 cases). The ketogenic diet improved only paroxysmal dysfunction, providing an additional argument in favour of paroxysmal energy failure.

The purpose of this study was to report patients with pharmacoresistant West syndrome of unknown cause whose magnetic resonance imaging (MRI) with diffusion weighted imaging (DWI) showed a transient decrease of diffusion in subcortical structures. Of 20 patients investigated over a 2-year period, three males and three females constitute the present series. They had daily clusters of infantile spasms with hypsarrhythmia for 4 to 24 months before the first investigation. Four were severely hypotonic. All aetiological studies involving intermediary metabolism, peroxysomes, mitochondria, and neurotransmitters in cerebrospinal fluid were negative. Patients underwent DWI when first examined at the mean age of 13 months, and on follow-up examination 6 to 18 months later. Diffusion was decreased in the pallidi and posterior brainstem. It was also decreased for five patients in thalami and for three in dentate nuclei. Repeat MRI, performed when spasms were still present but hypsarrhythmia had ceased, did not show the same abnormalities. Because of recruitment bias, this series probably overestimates the true incidence of such DWI abnormalities. The eventuality of toxic lesions, including some inborn error of metabolism or drug toxicity, is considered unlikely although it could not be excluded. The contribution of the epileptic encephalopathy itself appears the most likely course.

Aicardi-Goutières syndrome (AGS) is an early-onset progressive encephalopathy characterized by calcifications of the basal ganglia, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis, and/or a raised level of CSF interferon (INF)-alpha. We report a female with mitochondrial respiratory chain deficiency fulfilling the criteria of AGS. Disease onset was in the first year of age with seizures and psychomotor regression. To date, at 4 years of age, she presents a severe encephalopathy, increased INF-alpha in the CSF, and calcifications of basal ganglia on computerized tomography. Cerebral magnetic resonance imaging showed bilateral and symmetric hypersignal of the posterior white matter. A complex I deficiency of the mitochondrial respiratory chain was found in skeletal muscle, which was associated with a complex IV deficiency in cultured skin fibroblasts. The question of whether this oxidative phosphorylation deficiency is primary or secondary in AGS is open to debate. We suggest giving consideration to systematic evaluation of the mitochondrial respiratory chain in skeletal muscle and skin fibroblasts of other AGS patients.

St phane Chabrier, Isabelle Desguerre, M lanie Porte, Claude Payet, FranAois Rivier for the Neuromuscular Commission of the Soci t FranAaise de Neurologie P diatrique 1 CHU Saint-Etienne, Service de m decine physique et r adaptation p diatrique – Centre de r f rence maladies neuromusculaires Rh ne-Alpes, H pital Bellevue, Sainttienne, France. 2 Unit de neurop diatrie – Centre de r f rence maladies neuromusculaires Garches-Necker-Mondor-Hendaye, H pital Necker, Paris, France. 3 INSERM, U841 Mondor Biomedical Research Institute, Universit Paris 12, Cr teil, France. 4 CHU N mes, Service de m decine physique et r adaptation – Centre de r f rence maladies neuromusculaires du grand Sud Ouest, H pital Caremau, N mes, France. 5 CHU Montpellier, Service de neurop diatrie – Centre de r f rence maladies neuromusculaires du grand Sud Ouest, H pital Gui de Chauliac, Montpellier, France. 6 INSERM, ERI 25 'Muscle et Pathologies', Universit Montpellier 1, UFR de M decine, Montpellier, France. Correspondence to: stephane.chabrier@chu-st-etienne.fr