This case report presents the first simultaneous occurrence of Chiari malformation type 1 and celiac disease in a 27-year-old male patient. To the best of our knowledge, there are no previously published cases in the literature. This rare association suggests that nutrient malabsorption caused by celiac disease may exacerbate the symptomatic severity of Chiari malformation. We recommend screening for celiac disease in patients diagnosed with Chiari malformation who present with anaemia, vitamin deficiency or unexplained gastrointestinal complaints. Conversely, in the presence of atypical neurological symptoms in celiac disease, craniocervical magnetic resonance imaging should be performed and a multidisciplinary approach strategy should be considered in treatment.

Neuroenteric cysts (NCs) are rare benign lesions believed to originate from ectopic endodermal tissue. They are lined by gastrointestinal or respiratory epithelium capable of secreting mucin. Although most frequently located within the spinal canal, intracranial NCs are exceedingly rare and typically occur ventral to the brainstem. We report a case of a young female patient with an NC located in the cerebellopontine angle-an atypical site-exhibiting uncommon imaging features. Radiological evaluation revealed cystic contents with signal intensities similar to cerebrospinal fluid, a partially calcified cyst wall, and mild contrast enhancement. Extensive calcification resulted in firm adhesion to adjacent neurovascular structures. Surgical resection was performed, preserving a small calcified plaque that was tightly adherent to critical surrounding tissues. This case underscores the importance of including NCs in the differential diagnosis of intracranial cystic lesions, particularly when cyst wall calcification is present. Calcification can significantly influence surgical planning and increase the risk of adhesion to neurovascular structures, necessitating cautious dissection.

Lacunar skull, also known as Lückenschädel or craniolacunae, is a rare congenital calvarial ossification abnormality characterized by multiple lucent defects of the skull. It is most associated with neural tube defects, Chiari II malformation, craniosynostosis, and other congenital anomalies. Isolated lacunar skull, without associated structural abnormalities, has been infrequently reported, and its natural history, prognosis, and optimal clinical management are poorly defined.

Despite long-standing epidemiological associations, the mechanism linking folate availability to gestational neural tube defects remains unclear, partly because measuring and interpreting metabolic activity in dynamic biological systems remains challenging. Here, we apply a deep-learning-based graph-guided variational autoencoder (MeRN; Metabolic Representation Network) to infer single-cell metabolic activity and states from scRNA-seq data of mouse embryogenesis. By analyzing folate-deficient embryogenesis from E7.0-E9.0, we identify a transient state within the nascent neural lineage that is acutely sensitive to folate availability, leading to an interconnected disruption between key bioenergetic pathways and de novo purine biosynthesis. Moreover, metabolically induced growth defects lead to permanent morphological disruptions along the dorsal-ventral axis, which we confirm by generating whole-embryo fate maps using a prime-editing-based lineage recorder (PEtracer). Collectively, our results establish a highly scalable framework for interpreting dynamic changes in embryonic metabolism and elucidating the mechanistic bases underlying environmentally linked congenital disorders.

Metabolism shapes cellular function and state, yet measuring single-cell metabolic states at scale remains a challenge. We present Metabolic Representation Net (MeRN), a graph-guided variational autoencoder that leverages prior metabolic knowledge as a topology graph to learn latent representations of metabolic state and reaction activity from single-cell transcriptomes. MeRN's scalable estimation of reaction activity enables the definition of data-driven pathways (DDPs): context-specific metabolic modules supported by transcriptomic evidence and agnostic of standard pathway definitions. Using DDPs, we introduce the weakest link analysis to identify metabolic network rewiring. MeRN recovers metabolic zonation in the mouse intestine, links a folate deficiency-induced break in de novo purine synthesis to embryonic neural tube defects, shows cytokines with similar non-metabolic effects can elicit divergent T cell metabolism, and identifies metabolic drivers of T cell exhaustion and therapy response in human cancers. Our results establish MeRN as a unified method for metabolic analysis of single-cell transcriptomes.

Caudal regression syndrome (CRS) refers to a spectrum of congenital structural defects of the caudal region. We present a case of caudal regression syndrome with the objective of correlating the symptoms of caudal regression syndrome with the detailed imaging findings. A 05-year-old boy who was admitted to Mymensingh Medical College Hospital in August 2025 , presented with a post-urethroplasty state of hypospadias, complaining of urinary incontinence through the normal meatus and a urethrocutaneous fistula. He had dribbling of urine through hypospadias and deformed feet since birth. He also developed progressive lower limb weakness and walking difficulty at the age of 3 years. On clinical examination bilateral calf and hypothenar muscle wasting, reduced muscle power and tone, absent ankle and diminished knee jerks, diminished bulbocavernosus reflex, intact perianal sensation and anal tone were observed. Right-sided planovalgus (flat foot), left-sided cavus foot deformity, a smaller pelvic girdle with flat buttocks and hard swelling over the lower lumbar region were found. On x-ray lumbosacral spine both view, low-positioned L5 vertebra fused with a rudimentary S1 vertebra on the right with the absence of the rest of the sacral pieces and coccyx, broad spinous process of L5 were seen. Vertical talus, absent navicular bones and adducted forefeet and supinated great toes were seen on x-ray foot both view. RGU and MCU confirmed urethrocutaneous fistula. MRI of whole spine with contrast showed spinal cord and subarachnoid space termination at a slightly upper level with multifocal syrinx and anterior epidural lipoma. MR myelogram revealed short and thickened filum terminale. MR neurography demonstrated altered course of both sided lumbo-sacral plexus. Multifocal syrinx at cervical and dorso-lumbar vertebral levels resulted in lower motor type neuropathy and bladder incontinence. Though the patient had autonomic dysfunction of bladder due to the external urethral sphincter dysfunction, dribbling continued through the normal meatus and the weakest fistula tract evidenced by nil post voidal residue. This patient had no bowel incontinence due to intact inferior rectal nerve, a branch of pudendal nerve supplying the rectum.

The development of bioengineered conduits for the repair of large peripheral nerve defects remains challenging. Here, we introduce a biomimetic fibrin hydrogel scaffold containing stacked arrays of aligned poly(ε-caprolactone) (PCL) nanofibers that mimics the naturally forming fibrin cable seen in transection injuries. We further evaluated the additional encapsulation of Schwann cells (SCs) into the fibrin hydrogel. Nerve regeneration was examined in a 15 mm rat sciatic nerve resection model over a period of 12 weeks, comparing our scaffolds against the autograft, a collagen hollow tube, and a lesion-only control group. Functional and morphometric analyses revealed that the autograft supported the strongest regeneration, followed by the SC-seeded fibrin-nanofiber scaffold and the hollow tube. Unexpectedly, a macrophage-rich core devoid of SCs and regenerated axons formed within both fibrin-nanofiber scaffolds around persisting PCL nanofibers. This core impaired the regenerative potential of the non-SC-seeded fibrin-nanofiber scaffold to the extent that functional regeneration was comparable to that of the lesion-only control group. While the scaffolds were designed to closely mimic and support the natural regenerative environment following nerve transection, our results reveal that these theoretical considerations do not necessarily translate into practice.

Congenital malformations of the central nervous system (CNS) are among the most common congenital anomalies, with neural tube defects being the most prevalent, comprising approximately 40% of CNS malformations. The estimated prevalence of CNS anomalies varies, but many cases remain undiagnosed at birth, potentially leading to underestimation. These conditions significantly impact neurodevelopmental outcomes and contribute to a high societal burden due to the need for specialized medical care and support. Prenatal imaging plays a crucial role in the early detection of CNS anomalies. Routine mid-trimester ultrasound, performed between 18 and 24 weeks of gestation, is the primary screening method, with detection rates ranging from 68% to 92%. Standardized guidelines by the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) recommend acquiring three axial planes-transventricular, transthalamic, and transcerebellar-to improve diagnostic accuracy. The addition of mid-sagittal plane evaluation may further enhance detection rates. When abnormalities are suspected, targeted fetal neurosonography (with transvaginal probes), incorporating coronal and sagittal planes, is necessary for detailed assessment and diagnosis. Accurate prenatal assessment of CNS anomalies is critical for diagnosis, prognosis, and management planning. Standardized approaches and advanced imaging techniques contribute to improved detection and better-informed clinical decision-making, ultimately enhancing outcomes for affected fetuses.