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Introduction: In this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS)., Methods: Twenty-six patients with 9 CMS subtypes and 10 controls were imaged. T1-weighted (T1w) and short-tau inversion recovery (STIR) 3-Tesla MRI images obtained at thigh and calf levels were scored for severity., Results: Overall mean the T1w score was increased in GFPT1 and DPAGT1 CMS. T1w scans of the AChR-deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images from CMS patients did not differ significantly from those of controls. Mean T1w score correlated with age in the CMS cohort., Conclusions: MRI appearances ranged from normal to marked abnormality. T1w images seem to be especially abnormal in some CMS caused by mutations of proteins involved in the glycosylation pathway. A non-selective pattern of fat infiltration or a normal-appearing scan in the setting of significant clinical weakness should suggest CMS as a potential diagnosis. Muscle MRI could play a role in differentiating CMS subtypes. Muscle Nerve 54: 211-219, 2016., (© 2016 The Authors. Muscle & Nerve Published by Wiley Periodicals, Inc.)

Aims: To review the neuroimaging of a series of infants and young children admitted to hospital with subdural haemorrhage (SDH). Methods: Neuroradiological investigations of 74 children under 2 years of age, from South Wales and southwest England, in whom an SDH or subdural effusion had been diagnosed between 1992 and 2001, were reviewed. Two paediatric neuroradiologists blinded to the original radiological report reviewed all the relevant images. Results: Neuroradiological review of images identified radiological Features which were highly suggestive of non-accidental head injury (NAHI). Interhemispheric haemorrhages and SDHs in multiple sites or of different densities were almost exclusively seen in NAHI. MRI was more sensitive in identifying SDHs of different signal characteristics, posterior and middle cranial fossa bleeds, and parenchymal changes in the brain. CT scans, if performed with suboptimal protocols, were likely to miss small subdural bleeds. Conclusions: Guidelines for neuroimaging in suspected NAHI are recommended. A radiologist with experience in NAHI should report or review these scans. The initial investigation should be CT, but MRI will also be necessary in most cases. Head a should be an integral part of the skeletal survey in all infants less than 6 months of age referred for child protection investigation, and in children less than 2 years where child abuse is suspected and there are neurological signs, retinal haemorrhages, or fractures. [ABSTRACT FROM AUTHOR]

Abstract: Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1, SEPN1, RYR1 and TPM3 genes. We report the clinico-pathological and electrophysiological features of 2 unrelated cases with heterozygous TPM3 mutation. Case1 is a 19-year-old lady who presented with motor delay in infancy, respiratory failure in early teens requiring non-invasive ventilation despite being ambulant, ptosis, axial more than proximal weakness and scoliosis. Case 2 is a 7-year-old boy with hypotonia, feeding difficulties, motor delay and scoliosis, also requiring non-invasive ventilation while ambulant. Muscle biopsies in both cases showed fibre type disproportion. Muscle MRI (Case1) showed mild uniformly increased interstitial tissue in and around the muscles. Sequencing of TPM3 in case 1 revealed a previously described heterozygous c.503G>A(pArg168His) missense variant in exon 5 and a novel heterozygous missense mutation c.521A>C(pGlu174Ala), also in exon 5, in case 2. A mild abnormality in the single fibre EMG was documented on electrophysiology in both cases. These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations. [ABSTRACT FROM AUTHOR]