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Due to the majority of currently available genome data deriving from individuals of European ancestry, the clinical interpretation of genomic variants in individuals from diverse ethnic backgrounds remains a major diagnostic challenge. Here, we investigated the genetic cause of a complex neurodevelopmental phenotype in two Palestinian siblings. Whole exome sequencing identified a homozygous missense TECPR2 variant (Chr14(GRCh38):g.102425085G>A; NM_014844.5:c.745G>A, p.(Gly249Arg)) absent in gnomAD, segregating appropriately with the inheritance pattern in the family. Variant assessment with in silico pathogenicity prediction and protein modeling tools alongside population database frequencies led to classification as a variant of uncertain significance. As pathogenic TECPR2 variants are associated with hereditary sensory and autonomic neuropathy with intellectual disability, we reviewed previously published candidate TECPR2 missense variants to clarify clinical outcomes and variant classification using current approved guidelines, classifying a number of published variants as of uncertain significance. This work highlights genomic healthcare inequalities and the challenges in interpreting rare genetic variants in populations underrepresented in genomic databases. It also improves understanding of the clinical and genetic spectrum of TECPR2‐related neuropathy and contributes to addressing genomic data disparity and inequalities of the genomic architecture in Palestinian populations. [ABSTRACT FROM AUTHOR]

Intradural arachnoid cyst is a rare complication of lumbar puncture, post-trauma or post-intraoperative durotomies. We aim to estimate the incidence of early intradural arachnoid cyst radiologically in non-instrumented posterior lumbar decompression among symptomatic patients, and establish clinical correlation. Patients who underwent lumbar decompression without instrumentation at a tertiary spinal service between December 2014 and January 2018 were identified. When MRI scans were performed post-operatively within 14 days, imaging, medical and operative records were reviewed by two consultant neuroradiologists. 488 operations were included. 46 operations were followed by an early MRI scan. 59% were requested to investigate new or ongoing pain. Ten demonstrated an intradural arachnoid cyst – seven had no documented durotomy. Eight were primary operations, three were emergency operations. Statistically, we have not identified durotomy, primary-vs-revision surgery, and elective-vs-emergency surgery as risk factors. Two patients required revision operations, of these, one had a repeat post-operative scan, where the cyst resolved following further decompression at the index level, without intradural exploration. Intradural arachnoid cyst may complicate posterior lumbar decompression. To our knowledge, this is the first study to assess its incidence as an early post-operative radiological finding, which is likely to be commoner than we recognise. It may be a cause of persisting post-operative pain. [ABSTRACT FROM AUTHOR]