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Nusinersen (NUS), the first treatment approved for Spinal Muscular Atrophy type 1 (SMA1), was made available in the UK for SMA1 through the Expanded Access Program (EAP) in 2017. The Great Ormond Street Respiratory (GSR) score was developed as an objective respiratory assessment for children with SMA1 during their treatment. Aims: Track respiratory status of SMA1 children over the course of Nusinersen treatment and compare GSR scores amongst SMA1 sub-types. Single centre study on SMA1 patients using the GSR score at set time points: prior to first NUS dose; 2 weeks post end of loading doses; 2 weeks post-subsequent doses. GSR score ranges 1-28, being 1-9 = Stable minimal support, thorough to 23-28 = Poor reserve with maximum support. 20 SMA1 children underwent NUS treatment between January 2017 - November 2018. Median age of diagnosis was 5.0 months. NUS started at median of 9.57 months. From 5th dose onwards, GSR scores were significantly lower for Type 1C patients compared to Type 1B By month 18, irrespective of subtypes, the whole cohort appears to stabilise GSR Scores. As treatment duration increases, an overall stabilisation of respiratory status across the cohort was observed. Further longitudinal studies are needed to validate the GSR.

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Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a treatable chronic disorder of the peripheral nervous system. We retrospectively studied 30 children with a suspected diagnosis of CIDP. The diagnosis of CIDP was compared against the childhood CIDP revised diagnostic criteria 2000. Of the 30 children, five did not meet the criteria and four others met the criteria but subsequently had alternative diagnosis, leaving a total of 21 children (12 male) with CIDP as the final diagnosis. Thirteen children presented with chronic symptom-onset (>8 weeks). The majority presented with gait difficulties or pain in legs (n = 16). 12 children (57%) met the neurophysiological criteria and 18/19 (94%) met the cerebrospinal fluid criteria. Nerve biopsy was suggestive in 3/9 (33%), with magnetic resonance imaging supportive in 9/20 (45%). Twenty-one children received immuno-modulatory treatment at first presentation, of which majority (n = 19, 90%) received IVIG (immunoglobulin) monotherapy with 13 (68%) showing a good response. 8 children received second line treatment with either IVIG or steroids or plasmapharesis (PE) and 4 needed other immune-modulatory agents. During a median follow-up of 3.6 years, 9 (43%) had a monophasic course and 12 (57%) had a relapsing-remitting course. At last paediatric follow up 7 (33%) were off all treatment, 9 (43%) left with no or minimal residual disability and 6 (28%) children were walking with assistance (n = 3) or were non-ambulant (n = 3). Our review highlights challenges in the diagnosis and management of paediatric CIDP. It also confirms that certain metabolic disorders may mimic CIDP.

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Iron deficiency anaemia (IDA) has a peak prevalence of 4-8% in children aged 1-3 years of age and is known to be associated with developmental delay, lethargy, irritability and cognitive problems. Rarely, IDA has also been reported as a risk factor for stroke in otherwise healthy children. We report a series of four young children aged 14 months to 48 months with significant IDA. Three children had venous sinus thrombosis and one had arterial ischaemic stroke, without other risk factors. We discuss the potential underlying mechanisms and review the relevant literature. This report further consolidates the evidence for a strong association between IDA and childhood stroke and highlights an easily treatable (and preventable) risk factor.

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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. Case 1 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 (Case 1) 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.

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OBJECTIVES: To study the etiology of remote symptomatic epilepsy with onset in the first 3 years of life. Patients with neonatal hypoglycemic brain injury (NHBI), were further studied for risk factors and clinical features. METHODS: The study was conducted at a tertiary pediatric neurology service between May-August 2004. Consecutive patients were recruited prospectively. The probable etiological diagnoses were based primarily on cranial imaging. Two radiologists, blinded to the etiological diagnosis, reviewed the cranial imaging and suggested the likely etiology based on published imaging criteria. There were three categories i.e, (i) perinatal encephaloclastic conditions (PEC) e.g., hypoxic ischemic encephalopathy (HIE) etc, (ii) developmental (DV) e.g., tuberous sclerosis, etc and (iii) postnatal (PN) e.g., trauma, etc. Three risk factors (birth weight, type of delivery, feeding difficulty) were compared between NHBI and developmental etiology (DV) groups. Neurological findings were compared between the NHBI vs the other perinatal groups. Seizure details were studied only in the NHBI group. RESULTS: 63 boys and 37 girls were recruited. Mean age of seizure onset was 13.9 months. PEC were seen in 50 patients, DV in 28 patients and PN in 5. NHBI was seen in 23 patients and was the most frequent cause of epilepsy. Low birth weight (LBW), neonatal feeding difficulties and cesarean delivery were significant risk factors for NHBI vis a vis the DV group. Microcephaly, autism, visual impairment and apraxia of hand use were common while spasticity or dystronia were rare in NHBI. Spasms were the commonest seizure type. CONCLUSION: Neonatal hypoglycemia is the most common etiology of remote symptomatic infantile onset epilepsy. LBW, poor neonatal feeding and cesarean delivery are significant clinical correlates.

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