Heterotopias and choristomas are congenital lesions characterized by the presence of histologically normal tissues at non-physiological anatomic sites. The presence of gastrointestinal tissue in the oral cavity has been recognized as a heterotopic gastrointestinal cyst (HGIC) of the oral cavity. An intestinal heterotopia on the face, in relation to the parotid gland, is extremely rare. Highlighting this possibility is the case of a 42-year-old, non-habitué female with swelling in the parotid region of the face for two years. Clinical examination and radiographic investigations ruled out the possibility of a salivary gland tumor, epidermal inclusion cyst, and enlarged parotid lymph node while confirming the cystic nature of the presenting pathology. Further evaluation was carried out using an excisional biopsy. Histopathological evaluation revealed a cystic space lined by simple columnar epithelium with an abundance of goblet cells. The cystic epithelium was noted to form finger-like projections and crypts. An eosinophilic mucinous content was noted in the cystic space. Using Alcian blue-periodic acid-Schiff (PAS) staining, a distinct Alcian blue positivity of the mucinous material and the goblet cells was noted. This feature confirms the acidic nature of the mucinous content being liberated by the goblet cells. The histopathological features, along with histochemical assessment, were confirmatory for the diagnosis of an HGIC. The patient remains disease-free at the end of a 12-month follow-up. This is the first report of an HGIC at an extraoral site on the face in association with the parotid gland. It highlights the possible presentation of heterotopias in adult patients and warrants clinicopathological vigilance due to its benign nature and late presentation.

Gray matter heterotopia (GMH) is caused by abnormal neuronal migration during brain development. Subcortical band heterotopia (SBH), or double cortex, is a rare variant of GMH that mainly affects female patients with epilepsy (PWE) with different degrees of mental retardation. We present the case of a 25-year-old woman who was admitted to the neurology department of our tertiary hospital with generalized tonic-clonic seizures. Her mother had a normal antenatal period and a history of labor. There was a history of immediate crying and normal appearance, pulse, grimace, activity, and respiration (APGAR) scores. She had delayed milestones, which affected various categories of child development. Physical examination revealed a global developmental delay. Laboratory values, including complete blood count, serum calcium, and arterial blood gas tests, were all within normal limits. An EEG showed significant abnormalities suggestive of epilepsy. An MRI of the brain showed a continuous band of gray matter located deep and parallel to the cortex in both cerebral hemispheres, suggesting double cortex syndrome (DCS).

OBJECTIVE: Cytoplasmic dynein heavy chain (DYNC1H1) is a multi-subunit protein complex that provides motor force for movement of cargo on microtubules and traffics them back to the soma. In humans, mutations along the DYNC1H1 gene result in intellectual disabilities, cognitive delays, and neurologic and motor deficits. The aim of the study was to generate a mouse model to a newly identified de novo heterozygous DYNC1H1 mutation, within a functional ATPase domain (c9052C > T(P3018S)), identified in a child with motor deficits, and intellectual disabilities.
RESULTS: P3018S heterozygous (HET) knockin mice are viable; homozygotes are lethal. Metabolic and EchoMRI™ testing show that HET mice have a higher metabolic rate, are more active, and have less body fat compared to wildtype mice. Neurobehavioral studies show that HET mice perform worse when traversing elevated balance beams, and on the negative geotaxis test. Immunofluorescent staining shows neuronal migration abnormalities in the dorsal and lateral neocortex with heterotopia in layer I. Neuron-subtype specific transcription factors CUX1 and CTGF identified neurons from layers II/III and VI respectively in cortical layer I, and abnormal pyramidal neurons with MAP2+ dendrites projecting downward from the pial surface.
CONCLUSIONS: The HET mice are a good model for the motor deficits seen in the child, and highlights the importance of cytoplasmic dynein in the maintenance of cortical function and dendritic orientation relative to the pial surface. Our results are discussed in the context of other dynein mutant mice and in relation to clinical presentation in humans with DYNC1H1 mutations.

Close-reading sequential comics and cartoons such as He Zhu\'s \"Lockdown,\" Rivi Handler-Spitz\'s \"Morning Commute,\" Yang Ji\'s \"Quarantine,\" and Thi Bui, Will Evans, Sarah Mirk, Amanda Pike, and Esther Kaplan\'s \"In/Vulnerable,\" this article investigates the networked spatial crises that have emerged during COVID-19. As the global pandemic reshaped social, economic, and cultural landscapes, it is crucial to understand the spatial implications of these transformations. By analyzing graphic medical texts, which serve as visual narratives that capture the lived experiences and perceptions of individuals within these crises, the present essay offers a nuanced exploration of the intricate relationships between space, society, and the effects of the pandemic. The article identifies and examines the various spatial crises that have emerged in the COVID era, such as disrupted urban environments, altered social dynamics, spaces of contamination, contraction of space, and the reconfiguration of workspaces. Drawing on theorists like Michael Foucault and Henri Lefebvre, this essay illustrates how these crisis-induced spatial transformations are represented, experienced, and contested. Ultimately, the article not only contributes to a deeper understanding of the complex interplay between the pandemic and space but also addresses the challenges of our evolving world.

Microscopic heterotopic extraovarian sex cord-stromal proliferations were first reported in the literature in 2015 by McCluggege. Afterwards, few similar cases have been described. Herein, we report the fourteenth case of microscopic heterotopic sex cord-stromal proliferation and the third case sited in the pelvic peritoneum. The clinical history of these rare cases suggests their benign nature. Knowledge of this histological pattern is important for differential diagnoses such as malignant pathologies and metastatic diseases.

OBJECTIVE: Historically, the presence of gray matter heterotopia was a concern for adverse postnatal neurocognitive status in patients undergoing fetal closure of open spinal dysraphism. The purpose of this study was to evaluate neurodevelopmental outcomes and the onset of seizures during early childhood in patients with a prenatal diagnosis of myelomeningocele/myeloschisis (MMC) and periventricular nodular heterotopia (PVNH).
METHODS: All patients evaluated at the Center for Fetal Diagnosis and Treatment with a diagnosis of MMC between June 2016 to March 2023 were identified. PVNH was determined from prenatal and/or postnatal MRI. The Bayley Scales of Infant and Toddler Development (edition III or IV) were used for neurodevelopmental assessments. Patients were screened for seizures/epilepsy.
RESULTS: Of 497 patients evaluated with a prenatal diagnosis of MMC, 99 were found to have PVNH on prenatal MRI, of which 35 had confirmed PVNH on postnatal imaging. From the 497 patients, 398 initially did not exhibit heterotopia on prenatal MRI, but 47 of these then had confirmed postnatal PVNH. The presence of PVNH was not a significant risk factor for postnatal seizures in early childhood. The average neurodevelopmental scores were not significantly different among heterotopia groups for cognitive, language, and motor domains.
CONCLUSIONS: The presence of PVNH in patients with a prenatal diagnosis of MMC does not indicate an increased risk for neurodevelopmental delay at 1 year of age. We did not demonstrate an association with seizures/epilepsy. These findings can aid clinicians in prenatal consultation regarding fetal repair of open spinal dysraphism. Long-term follow-up is required to discern the true association between PVNH seen on prenatal imaging and postnatal seizures/epilepsy and neurodevelopmental outcomes.

Heterozygous pathogenic variants in KDM6B have recently been associated to a rare neurodevelopmental disorder referred to as \"Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities\" and characterized by non-pathognomonic facial and body dysmorphisms, a wide range of neurodevelopmental and behavioral disorders and nonspecific neuroradiological findings. KDM6B encodes a histone demethylase, expressed in different tissues during development, which regulates gene expression through the modulation of chromatin accessibility by RNA polymerase. We herein describe a 11-year-old male patient carrying a novel de novo pathogenic variant in KDM6B exhibiting facial dysmorphisms, dysgraphia, behavioral traits relatable to oppositional defiant, autism spectrum, and attention deficit hyperactivity disorders, a single seizure episode, and a neuroimaging finding of a single cerebellar heterotopic nodule, never described to date in this genetic condition. These findings expand the phenotypic spectrum of this syndrome, highlighting the potential role for KDM6B in cerebellar development and providing valuable insights for genetic counseling.

Extraosseous bone formation of the upper urothelial tract is an unusual phenomenon with limited documentation in the uropathology literature, reported in only 2 clinical series of patients undergoing percutaneous nephrolithotomy for the management of renal stones. While speculations regarding the pathogenesis of this occurrence have been published, heterotopic ossification is still poorly understood. We report the finding of extraosseous bone formation in the renal pelvis of a 30-year-old male patient with a history of kidney stones. Histologic sections of the ureter and renal pelvis showed submucosal nodules of woven bone. Ancillary fluorescence in-situ hybridization studies were negative for MDM2 amplification and USP6 rearrangement.

The co-occurrence of Mega Cisterna Magna and Periventricular Nodular Heterotopia in an adult female patient is an uncommon and intriguing observation. Most instances are X-linked, typically with the Xq28-localized filamin A gene FLNA as the culprit. In this case study, we present a 52-year-old female patient who sought medical care for recurring headaches and epilepsy. The present case emphasizes the necessity for ongoing study and exploration into the clinical trajectory and imaging of uncommon correlations between nodular heterotopia and mega cisterna magna.

Brain malformations cause cognitive disability and seizures in both human and animal models. Highly laminated structures such as the neocortex and cerebellum are vulnerable to malformation, affecting lamination and neuronal connectivity as well as causing heterotopia. The objective of the present study was to determine if sporadic neocortical and/or cerebellar malformations in C57BL/6J mice are correlated with reduced seizure threshold. The inhaled chemi-convulsant flurothyl was used to induce generalized, tonic-clonic seizures in male and female C57BL/6J mice, and the time to seizure onset was recorded as a functional correlate of brain excitability changes. Following seizures, mice were euthanized, and brains were extracted for histology. Cryosections of the neocortex and cerebellar vermis were stained and examined for the presence of molecular layer heterotopia as previously described in C57BL/6J mice. Over 60% of mice had neocortical and/or cerebellar heterotopia. No sex differences were observed in the prevalence of malformations. Significantly reduced seizure onset time was observed dependent on sex and the type of malformation present. These results raise important questions regarding the presence of malformations in C57BL/6J mice used in the study of brain development, epilepsy, and many other diseases of the nervous system.