Leigh syndrome with atypical cerebellar lesions.

Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis. It can be caused by more than 75 different gene mutations, of nuclear and mitochondrial origin, involving all respiratory chain complexes, with less than 25% of Leigh syndrome having mitochondrial DNA mutations. The typical pathologic hallmarks are focal, bilateral, and symmetric lesions in the basal ganglia, thalamus, cerebellum, cerebral white matter and spinal cord gray matter, usually with T2WI and FLAIR hyperintensity. The basal ganglia and thalami frequently present with a pattern of cytotoxic edema. We present one case with clinical and analytical features consistent with Leigh Syndrome, with peculiar imaging features, showing dominant cerebellar edematous changes with unexpected petechial component suggestive of microangiopathy. To our knowledge, these features are unreported and suggest the existence of microvascular lesions. Based on the reported imaging findings, we propose that Leigh Syndrome should be added to the differential diagnosis of acute cerebellitis.

GNAO1: un nuevo gen a considerar en la distonía temprana de la infancia / GNAO1: a new gene to consider on early-onset childhood dystonia

No disponible

Are children with acute arterial ischaemic stroke eligible for hyperacute thrombolysis? A retrospective audit from a tertiary UK centre.

AIM: The aim of this study was to evaluate the number of children with acute arterial ischaemic stroke (AIS) who would have been eligible for hyperacute thrombolysis in the authors' unit (Great Ormond Street Hospital, London, UK) and to identify barriers to this treatment. METHOD: We compared the characteristics of children with a diagnosis of acute AIS, identified from neuroimaging databases, seen at our centre between January 2006 and December 2011. The criteria for hyperacute thrombolysis were predefined by us: age ≥8y; imaging-confirmed diagnosis of acute AIS and arrival at our centre within 6 hours of symptom onset; occluded major artery on computed tomography (CT) or magnetic resonance angiography; no contraindications. Factors that precluded therapy were examined. RESULTS: Of a total of 107 children with acute AIS identified on MRI (n=64; 33 females, 31 males; median age 4y, range 1mo-17y) or CT databases (n=43; 14 females, 29 males; median age 1y, range 1mo-15y), none would have been eligible for hyperacute thrombolysis. The major barriers to this were (1) delayed diagnosis, (2) delayed transfer to the tertiary centre, (3) age, and (4) medical comorbidities. Of 107 children, three (2.8%) would have been eligible for thrombolysis if diagnosis and transfer had occurred in a timely manner. An additional 11 children (10.3%) would have been eligible if the age criterion was 28 days or more and if diagnosis and transfer had occurred promptly. INTERPRETATION: Although hyperacute thrombolysis is, as yet, an unproven treatment in childhood AIS, at least a subset of patients could potentially benefit. This audit has identified that clinical factors preclude treatment in a high percentage of children. Furthermore, in our specialist unit, without an emergency department, we identified major logistic barriers that will need to be addressed to enable access to hyperacute therapies. These results could inform future trial design and service delivery.

What is new for monoamine neurotransmitter disorders?

The monoamine neurotransmitter disorders are increasingly recognized as an expanding group of inherited neurometabolic syndromes caused by disturbances in the synthesis, transport and metabolism of the biogenic amines, including the catecholamines (dopamine, norepinephrine, and epinephrine) and serotonin. Disturbances in monoamine metabolism lead to neurological syndromes that frequently mimic other conditions, such as hypoxic ischemic encephalopathy, cerebral palsy, parkinsonism-dystonia syndromes, primary genetic dystonia and paroxysmal disorders. As a consequence, neurotransmitter disorders are frequently misdiagnosed. Early and accurate diagnosis of these neurotransmitter disorders is important, as many are highly amenable to, and some even cured by, therapeutic intervention. In this review, we highlight recent advances in the field, particularly the recent extensive characterization of known neurotransmitter disorders and identification of novel neurotransmitter disorders. We also provide an overview of current and future research in the field focused on developing novel treatment strategies.

Sepsis, meningitis and cerebral abscesses caused by Citrobacter koseri.

After a 36-week diamniotic dichorionic gestation, an infant was delivered by elective caesarean section due to growth restriction and altered diastolic flow in the umbilical artery. Birth weight was 2140 g. The patient was admitted for exclusive parenteral nutrition, with umbilical venous catheter placement. Sinus tachycardia and temperature instability with positive inflammatory markers occurred at 51 h. Penicillin and gentamicin were started, but 6 h later septic shock with disseminated intravascular coagulation was noted. Vancomycin and meropenem were started and penicillin suspended. Citrobacter koseri was isolated from blood culture. Generalised clonic convulsions occurred on day 4, and an electroencephalogram revealed severe encephalic dysfunction. Cerebrospinal fluid cytochemical analysis was suggestive of meningitis, although culture was negative. Cefotaxime was added to the drug regimen. Cranioencephalic MR showed a temporal abscess and diffuse hemispheric destruction, with no indications for neurosurgery. After 6 weeks of therapy, neuroimaging follow-up showed multiloculated cystic encephalomalacia. Currently, the patient is 14 months old with axial hypotonia and decreased movements. The source of infection has not been determined. Nosocomial infection cannot be excluded and vertical transmission is unlikely.