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Simple Summary: This review delineates the diagnostic challenges in distinguishing neoplastic from non-neoplastic spinal cord pathologies, highlighting the importance of a comprehensive radiological evaluation. An integral component of this evaluation is the detailed analysis of MRI findings to accurately diagnose lesions that mimic spinal cord tumors. It emphasizes the need for careful consideration of common non-surgical myelopathies in differential diagnoses due to their higher prevalence. Additionally, the review discusses the principal etiologies of spinal pseudotumors, including inflammatory, vascular, and infectious neurological diseases. This approach aims to refine diagnostic accuracy and enhance clinical decision-making by providing a nuanced understanding of the varied manifestations of spinal cord pathologies. Differentiating neoplastic from non-neoplastic spinal cord pathologies may be challenging due to overlapping clinical and radiological features. Spinal cord tumors, which comprise only 2–4% of central nervous system tumors, are rarer than non-tumoral myelopathies of inflammatory, vascular, or infectious origins. The risk of neurological deterioration and the high rate of false negatives or misdiagnoses associated with spinal cord biopsies require a cautious approach. Facing a spinal cord lesion, prioritizing more common non-surgical myelopathies in differential diagnoses is essential. A comprehensive radiological diagnostic approach is mandatory to identify spinal cord tumor mimics. The diagnostic process involves a multi-step approach: detecting lesions primarily using MRI techniques, precise localization of lesions, assessing lesion signal intensity characteristics, and searching for potentially associated anomalies at spinal cord and cerebral MRI. This review aims to delineate the radiological diagnostic approach for spinal cord lesions that may mimic tumors and briefly highlight the primary pathologies behind these lesions. [ABSTRACT FROM AUTHOR]

INTRODUCTION: Central nervous system malformationsare frequently encountered anomalies owing to derangements in the neurulation process of spinal in the embryonic period. These are broadly categorized into 1) open spinal dysraphism and 2) closed spinal dysraphism, based on skin/sub cutaneous tissues coverage. Masquerading diseases may present with similar clinical presentation. Neuro-imaging plays an essential role in differentiating between neural tube defects and mimicking disease hence facilitate appropriate diagnosis and pre-surgical planning. OBJECTIVE: To assess the frequency of congenital central nervous system (CNS) malformations and masquerading diseases in the pediatric patients presenting with congenital posterior midline lumps at the head, neck and back using MRI brain and spine in the Radiology department of the national institute of child health (NICH). METHODS: Design: This is a descriptive, retrospective cross-sectional analysis. Setting: Radiology department of national institute of child health (NICH). Electronic data from November 2021 to October 2022 of MRI brain and spine of pediatric patients below 15 years presented with congenital posterior midline lumps were collected and analyzed on SPSS version 26. RESULTS: Total 201 pediatric patients were evaluated. There was a balanced gender distribution between male 91(45%) and female 110(54.7%). The most common presenting complaint was congenital lumbar posterior midline lump. Myelomeningocele was the most common diagnosis (61.2%) followed by lipomyelocele and lipomyelomeningocoele (4%). Notably, the most common association was found to be hydrocephalus (38.8%), syrinx (23.9%) and tethered cord (20.9%). Most prevalent masquerading disease was sacrococcygeal teratoma then macrocystic lymphatic malformation. Soft tissue hemangioma, hematoma and neurogenic tumor were also found in few patients. CONCLUSION: This study emphasizes the significance of neuroimaging detection of not only spinal dysraphism but other masquerading diseases as well. Early recognition of key imaging features of such malformations and mimicking diseases facilitates appropriate intervention hence plays acrucial role for therapeutic strategy and clinical outcome. [ABSTRACT FROM AUTHOR]

Zic family member 1 (ZIC1), a gene located on chromosome 3q24, encodes a transcription factor with zinc finger domains that is essential for the normal development of the cerebellum. Heterozygous loss-of-function of ZIC1 causes Dandy-Walker malformation, while heterozygous gain-of-function leads to a multiple congenital anomaly syndrome characterized by craniosynostosis, brain abnormalities, facial features, and learning disability. In this study, we present the results of genetic analysis of a male patient with clinically suspected Gomez-Lopez-Hernandez syndrome. The patient displayed multiple congenital abnormalities, including bicoronal craniosynostosis, characteristic facial features, cerebellar malformation with rhombencephalosynapsis, and temporal alopecia, and a de novo inversion of chromosome 3q. Breakpoint analysis using a Nanopore long-read sequencer revealed a breakpoint in the distal centromere of 3q24 located 7 kb downstream of the 3' untranslated region of ZIC1. On the basis of the clinical similarities, we concluded that the abnormalities in this patient were caused by the transcriptional dysregulation of ZIC1. We hypothesize the underlying molecular mechanisms of transcriptional dysregulation of ZIC1 such as the abnormalities in topologically associated domains encompassing ZIC1. This study highlights the usefulness of long-read sequencing in the analysis of de novo balanced chromosomal abnormalities., (© 2023. The Author(s), under exclusive licence to The Japan Society of Human Genetics.)