Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Leucine - rich repeat containing 45 protein (LRRC45) protein localizes at the proximal end of centrioles and forms a component of the proteinaceous linker between them, with an important role in centrosome cohesion. In addition, a pool of it localizes at the distal appendages of the modified parent centriole that forms the primary cilium and it has essential functions in the establishment of the transition zone and axonemal extension during early ciliogenesis. Here, we describe three individuals from two unrelated families with severe central nervous system anomalies.

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Erythrocyte membrane protein band 4.1 like 3 (EPB41L3: NM_012307.5), also known as DAL1, encodes the ubiquitously expressed, neuronally enriched 4.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants.

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.

Heterozygous disease-causing variants in BCL11B are the basis of a rare neurodevelopmental syndrome with craniofacial and immunological involvement. Isolated craniosynostosis, without systemic or immunological findings, has been reported in one of the 17 individuals reported with this disorder till date. We report three additional individuals harboring de novo heterozygous frameshift variants, all lying in the exon 4 of BCL11B.

AI-CoV Study: Autoimmune Encephalitis Associated With COVID-19 and Its Vaccines-A Systematic Review.

Background And Purpose: Autoimmune encephalitis (AIE) following coronavirus disease 2019 (COVID-19) is an underexplored condition. This study aims to systematically review the clinico-investigational and pathophysiologic aspects of COVID-19 and its vaccines in association with AIE, and identify the factors predicting neurological severity and outcomes.

Methods: Relevant data sources were searched using appropriate search terms on January 15, 2022.

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

Hypomyelinating leukodystrophies comprise a subclass of genetic disorders with deficient myelination of the CNS white matter. Here we report four unrelated families with a hypomyelinating leukodystrophy phenotype harbouring variants in TMEM163 (NM_030923.5).

Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.

Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; MIM# 619121) is a recently described metabolic disorder with characteristic features of mild dysmorphism, intellectual disability, spasticity, peripheral neuropathy, cardiomyopathy, and thin corpus callosum. Biallelic variants in SHMT2 (MIM 138450), encoding mitochondrial serine hydroxymethyltransferase enzyme, have been recently linked to this disorder. Till now, a total of seven variants including six missense and one deletion-insertion has been reported in SHMT2.

Traumatic Pseudoaneurysm of Middle Meningeal Artery with Delayed Presentation as Intracerebral Hematoma: A Report with Review of Literature.

Background: Post-traumatic pseudoaneurysm of the middle meningeal artery is a rare entity. We report an atypical case of a delayed presentation as parenchymal hemorrhage due to a ruptured middle meningeal artery pseudoaneurysm.

Case Description: A 22-year-old man with an alleged history of cranial trauma following a road traffic accident presented 10 days later with a new right temporal intraparenchymal hemorrhage.

Embolectomy by SOLUMBRA Technique for Nontarget Intracranial Glue Migration- Complication and Bailout after Percutaneous Embolization of Orbital Meningioma.

Presurgical devascularization of neoplasms of the head and neck can be achieved by endovascular as well as direct percutaneous embolization techniques. We report a case of percutaneous glue embolization of an orbital meningioma, complicated by delayed acute stroke due to the distal migration of polymerized glue in the left middle cerebral artery. To the best of our knowledge, this is the first report to discuss the percutaneous embolization of orbital meningioma complicated by stroke due to intracranial glue migration.

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.

TRAPPC4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recently described TRAPPopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. Muscle involvement, a frequent finding in TRAPPopathies, was observed in one individual with TRAPPC4-related disorder previously. Only a single variant, an in-frame deletion in one family has been reported outside a recurrent disease-causing variant.

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.

Developmental and epileptic encephalopathies (DEE) are a genetically heterogeneous group of disorders characterised by early onset epilepsy, epileptiform activity on electroencephalogram and associated developmental delay or neuroregression. With the advent of high throughput sequencing, novel gene-disease associations have been described for DEEs. Voltage activated sodium channels (Na) regulate neuronal excitability.

Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

Background And Purpose: Mutations in the GMPPB gene affect glycosylation of α-dystroglycan, leading to varied clinical phenotypes. We attempted to delineate the muscle MR imaging spectrum of GMPPB-related Congenital Myasthenic syndrome (CMS) in a single-center cohort study.

Objective: To identify the distinct patterns of muscle involvement in GMPPB gene mutations.

Systemic inflammatory syndrome in COVID-19-SISCoV study: systematic review and meta-analysis.

Background: There has been a recent upsurge in the cases of Multisystem inflammatory syndrome in children (MIS-C) associated with Coronavirus disease (COVID-19). We performed a systematic review and meta-analysis on the demographic profile, clinical characteristics, complications, management, and prognosis of this emerging novel entity.

Methods: Using a predefined search strategy incorporating MeSH terms and keywords, all known literature databases were searched up till 10th July 2020.

Computed tomography coronary angiography diagnosis of single right coronary artery with congenital absence of left coronary artery system equivalents.

The present case report is computed tomography (CT) coronary angiographic depiction of an exceedingly rare entity-single right coronary artery arising from the right sinus of Valsalva with the absence of equivalent left coronary artery system branches and associated mitral valve prolapse. Even though a statistical rarity, it is potentially fatal and can cause myocardial ischemia, sudden cardiac death, and warrants immediate clinical attention. Further, the report reveals the decisive role of CT coronary angiogram in the diagnosis of such rare entities, in contrast to catheter angiography, which may be inconclusive.