ITS should be considered in children <3 years with anaemia, developmental delay/regression and skin depigmentation, with/without tremors. ITS can be seen in < 3 months of age and in high socio-economic status.

No abstract

Introduction:Basal ganglia stroke following trauma has been known to occur and described in previous case studies. But exact etiology is unknown.Aim:To study the clinical characteristics, imaging features, and neurodevelopmental outcomes of children presented with basal ganglia stroke associated with mineralization in the lenticulostriate arteries in our center from January 2013 to June 2016.Subjects and Methods:Children with subcortical stroke during the study period were identified retrospectively, and those presented with basal ganglia stroke with mineralization of lenticulostriate vessels were analyzed for clinical profile, imaging features, and outcomes. Statistical analysis was carried out using the Statistical Package for the Social Sciences (SPSS) software, version 17 (IBM, New York).Results:Of 38 children with basal ganglia stroke (20 boys, 18 girls, and mean age at presentation 14.026±5.8470 months), 27 had history of trauma preceding the stroke. Thirty-seven children presented with hemiparesis and one presented with hemidystonia. The mean follow-up time was 8 months, three children developed recurrence during that period. Five children with recurrence of stroke, initial episodes were not evaluated as they presented to us for the first time. A total of 17 of 30 infants who did not have stroke recurrence were normal on follow-up, whereas 9 infants showed persistent mild hemiparesis, 2 had motor delay, and 2 others had mild residual distal weakness. No identifiable causes were observed for vascular calcification. Two familial cases were also noted.Conclusion:Most common cause for acute basal ganglia stroke in toddlers was mineralizing angiopathy of lenticulostriate vessels. It was preceded by minor trauma in most cases.

Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.

ObjectiveLiterature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce from developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.MethodsBetween January 2021 and June 2022, this cross‐sectional, study was conducted at six centers in India. Children with genetically confirmed IESS, without definite structural‐genetic and structural‐metabolic etiology, were recruited and underwent detailed in‐person assessment for phenotypic characterisation. The multicentric data on the genotypic and phenotypic characteristics of genetic IESS were collated and analysed.ResultsOf 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear and one mitochondrial), including one with concurrent triple repeat disorder (fragile X syndrome), and 19 had chromosomal disorders. Of 105 single gene disorders, 51 individual genes (92 variants including 25 novel) were identified. Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant‐55.2%, recessive‐14.2%), while the rest had X‐linked inheritance. Underlying chromosomal disorders included trisomy 21 (n=14), Xq28 duplication (n=2), and others (n=3). Trisomy 21 (n=14), ALDH7A1(n=10), SCN2A (n=7), CDKL5 (n=6), ALG13 (n=5), KCNQ2 (n=4), STXBP1 (n=4), SCN1A (n=4), NTRK2 (n=4), and WWOX (n=4) were the dominant single gene causes of genetic IESS. The median age at the onset of epileptic spasms (ES) and establishment of genetic diagnosis was 5 and 12 months, respectively. Pre‐existing developmental delay (94.3%), early age at onset of ES (<6mo; 86.2%), central hypotonia (81.4%), facial dysmorphism (70.1%), microcephaly (77.4%), movement disorders (45.9%) and autistic features (42.7%) were remarkable clinical findings. Seizures other than epileptic spasms were observed in 83 children (66.9%). Pre‐existing epilepsy syndrome was identified in 21 (16.9%). Nearly 60% had an initial response to hormonal therapy.SignificanceOur study highlights a heterogenous genetic landscape and phenotypic pleiotropy in children with genetic IESS.