ASDAutism spectrum disorder SEN Subependymal nodule TAND Tuberous sclerosis complexassociated neuropsychiatric disorders TSC Tuberous sclerosis complex AIM To improve the genetic, clinical, and neuroradiological characterization of cerebellar involvement in tuberous sclerosis complex (TSC) and determine whether cerebellar lesions could be a reliable biomarker of neurological impairment.METHOD This retrospective cohort study, held at two tertiary paediatric university centres, was conducted on patients with a confirmed diagnosis of TSC who underwent brain magnetic resonance imaging between October 2009 and May 2016. The study population consisted of 112 patients with TSC (median age 10y; range 5mo-38y; 61 females, 51 males). RESULTSThe results from multivariable statistical analysis indicated that cerebellar involvement (34 out of 112 patients, none carrying a TSC1 mutation) was the most powerful predictor of supratentorial cortical tuber load; however, cerebellar involvement was not the best predictor of clinical phenotype when supratentorial tuber load and TSC2 mutations were taken into consideration. The association between cerebellar lesions and a more severe clinical and neuroradiological phenotype was statistically significant and may be due to its strong association with TSC2 mutations and higher cortical tuber load.INTERPRETATION Cerebellar involvement is not the best predictor of neurobehavioural outcome, including TSC-related autism, after adjusting for TSC2 and the number of cortical tubers. Its role in the TSC clinical phenotype needs to be investigated further.In tuberous sclerosis complex (TSC), a multisystem autosomal dominant genetic disorder with neurological involvement in about 90% of cases, structural alterations of the brain (mainly cortical tubers, radial migration lines, and subependymal nodules [SENs]) typically involve the supratentorial regions. 1,2 However, cerebellar involvement has been documented in patients with TSC, with a prevalence varying from 8% to 46%. 3-25 Cerebellar lesions are thought to be predominantly tubers, 5,6,8,20,26 although they are sometimes associated with dystrophy-like focal cerebellar atrophy; 3,4,7,8,20 partial or total cerebellar hypoplasia has also been reported. 9 With regard to contrast enhancement, calcifications, or lesion size, 10,11,27 recent studies have recorded changes in cerebellar lesions in 20% to 46% of patients with TSC. 6,7,14 These changes manifest themselves during the first 8 years of life; 6 however, the underlying biological mechanism remains unclear. Cerebellar lesions have been associated with older age, 4,12 autism spectrum disorder (ASD), 13 and TSC2 mutations; 12,14,17,18 TSC2 is highly expressed in the cerebellum. 14 Patients with TSC with cerebellar lesions generally have more cortical tubers than patients with only supratentorial lesions 4,6,8,12,25 and a greater association with subependymal giant cell astrocytoma. 7,25 Conditional knockout mouse models of TSC1 and TSC2 support the link between cerebellar circuitry and the develo...

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Objective: Pneumomediastinum and pneumopericardium are rare occurrences in young athletes, but they can result in potentially life-threatening consequences.Background: While involved in a rugby match, an 11-year-old boy received a chest compression by 3 players during a tackle. He continued to play, but 2 hours later, he developed sharp retrosternal chest pain. A chest radiograph and an echocardiograph at the nearest emergency department showed pneumopericardium and pneumomediastinum.Differential Diagnosis: Sternal and rib contusions, rib fractures, heartburn, acute asthma exacerbation, pneumomediastinum, pneumopericardium, pneumothorax, traumatic tracheal rupture, myocardial infarction, and costochondritis (Tietze syndrome).Treatment: Acetaminophen for pain control. Uniqueness: To our knowledge, this is the only case in the international literature of the simultaneous occurrence of pneumomediastinum and pneumopericardium in a child as a consequence of blunt chest trauma during a rugby match.Conclusions: Pneumomediastinum and pneumopericardium may be consequences of rugby blunt chest trauma. Symptoms can appear 1 to 2 hours later, and the conditions may result in serious complications. Immediate admission to the emergency department is required.

Background and ObjectivesWe sought to identify early factors associated with relapse and outcome in paediatric-onset myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD).MethodsIn a multicenter retrospective cohort of pediatric MOGAD (≤18 years), onset features and treatment were compared in patients with monophasic vs relapsing disease (including cases with follow-up ≥12 months after onset or relapse at any time) and in patients with final Expanded Disability Status Scale (EDSS) 0 vs ≥1 at last follow-up (including cases with follow-up >3 months after last event or EDSS0 at any time). Multivariable logistic regression models were used to evaluate factors associated with relapsing disease course and EDSS ≥ 1 at final follow-up.ResultsSeventy-five children were included (median onset age 7 years; median 30 months of follow-up). Presentation with acute disseminated encephalomyelitis was more frequent in children aged 8 years or younger (66.7%, 28/42) than in older patients (30.3%, 10/33) (p= 0.002), whereas presentation with optic neuritis was more common in children older than 8 years (57.6%, 19/33) than in younger patients (21.4%, 9/42) (p= 0.001). 40.0% (26/65) of patients relapsed. Time to first relapse was longer in children aged 8 years or younger than in older patients (median 18 vs 4 months) (p= 0.013). Factors at first event independently associated with lower risk of relapsing disease course were immunotherapy <7 days from onset (6.7-fold reduced odds of relapsing course, OR 0.15, 95% CI 0.03–0.61,p= 0.009), corticosteroid treatment for ≥5 weeks (6.7-fold reduced odds of relapse, OR 0.15, 95% CI 0.03–0.80,p= 0.026), and abnormal optic nerves on onset MRI (12.5-fold reduced odds of relapse, OR 0.08, 95% CI 0.01–0.50,p= 0.007). 21.1% (15/71) had EDSS ≥ 1 at final follow-up. Patients with a relapsing course had a higher proportion of final EDSS ≥ 1 (37.5%, 9/24) than children with monophasic disease (12.8%, 5/39) (p= 0.022, univariate analysis). Each 1-point increment in worst EDSS at onset was independently associated with 6.7-fold increased odds of final EDSS ≥ 1 (OR 6.65, 95% CI 1.33–33.26,p= 0.021).DiscussionAt first attack of pediatric MOGAD, early immunotherapy, longer duration of corticosteroid treatment, and abnormal optic nerves on MRI seem associated with lower risk of relapse, whereas higher disease severity is associated with greater risk of final disability (EDSS ≥ 1).

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