We altered antenatal care and modified neonatal management, subsequently infants spent less time in hospital and NMU admissions were reduced with less NAS treatment. Congenital abnormalities and microcephaly were not common and as regular child health checks were possible, the impact of the DLM service in shared management merits further investigation, for mother-infant bonding and developmental outcome.

Neuronal ceroid Lipofuscinosis (NCL), inherited disorders of lysosomal storage disorders, constitute the most common progressive encephalopathies with an incidence of 1.3 to 7 in 100,000 live births. We report clinical, electrophysiological, radiological, ultrastructural, and molecular genetic features of NCL. This is a retrospective review, in a tertiary care center from January 2016 to December 2019. All children with clinical features of NCL and confirmed by pathogenic mutation and/or enzyme assay were included. A total of 60 children (male:female = 3:1) were studied. The commonest type was CLN 2 (41.7%). Neuroregression, seizures, and ataxia were present in all cases. Retinal arterial attenuation was seen in 38.33% cases. Magnetic resonance imaging (MRI) brain was abnormal in all patients, thalamic and caudate nucleus atrophy common in CLN1 (62%). Electroencephalography was abnormal in all children, but photoparoxysmal response at low intermittent photic stimulation frequencies was seen in four children of CLN2. Electron microscopy done in 43 children revealed abnormal inclusions in 20 (46.52%) children. Enzyme study showed low levels in 36 (78%) out of 46 cases. Of these, 21 had low tripeptidyl peptidase and 15 had low palmitoyl protein thioesterase levels. Molecular testing done in 26 cases showed pathogenic variant in 23 (88%) cases. Infantile onset with thalamic atrophy on MRI is common in CLN1 and refractory epilepsy, visual impairment and specific EEG changes are common in CLN2. These features are helpful in selecting enzyme assay for CLN1 versus CLN2. Electron microscopy helped in the diagnosis and genetic testing in subtyping. Thus, a multimode approach played a role in the diagnosis of NCL.

Background Guillain–Barre syndrome (GBS) is the commonest cause of acute flaccid paralysis in children. There is a paucity of studies that assess the long‐term outcome of paediatric GBS. Aim To assess the frequency of neurological sequelae and the new‐onset symptoms in the long‐term follow‐up of paediatric GBS and to identify the risk factors associated with them. Methods This longitudinal study involved 78 children with GBS treated between January 2015 and 2021. The parents of those children were contacted to visit the hospital for a detailed neurological examination and to look for new‐onset symptoms after the initial treatment for GBS. Results Of the 78 children, acute inflammatory demyelinating polyradiculoneuropathy, acute motor axonal neuropathy, and acute motor‐sensory axonal neuropathy variants were observed in 30 (38.5%), 27 (34.6%) and 11 (14.1%) children, respectively. The median (interquartile range (IQR)) duration of follow‐up was 3 (2, 4.5) years. The median (IQR) time to independent ambulation was 30 (13.5, 105) days. The neurological sequelae were found in 22 (28.2%) children. GBS disability score at admission (odds ratio (OR) = 4.6; 95% confidence interval (CI): 1.1–19.8; P = 0.04) and axonal variant of GBS (OR = 4.1; 95% CI: 1.5–20.8; P = 0.04) were found to be independent predictors of neurologic sequelae. A total of 28 children experienced new‐onset symptoms after GBS, with frequent falls while running and fatigue being the predominant symptoms. Those children with demyelinating variant achieved independent ambulation earlier than the axonal group on survival analysis (log‐rank P value = 0.04). Conclusion The presence of neurological sequelae and new‐onset symptoms were found in 28.2 and 35% of the GBS children, respectively. High GBS disability score at admission and axonal variant of GBS were independent predictors of neurological sequelae. Knowledge about these would help in devising a plan for rehabilitation.

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