Chiari malformation type I (CM1) is traditionally viewed as a structural disorder of the posterior fossa characterized by cerebellar tonsillar herniation. However, growing evidence indicates that CM1 is frequently accompanied by disturbances in cognition, emotion, and behavior that cannot be fully explained by pain, hydrocephalus, or radiographic severity alone. Advances in cerebellar neuroscience highlight the cerebellum's critical role in higher-order cognition and affect through distributed cerebrocerebellar networks. Here, we synthesize neuropsychological, neuroimaging, developmental, and clinical evidence to reframe CM1 as a disorder of cerebellar cognitive affective dysfunction. Across pediatric and adult populations, CM1 is associated with domain-specific inefficiencies in attention, executive control, working memory, visuospatial processing, language fluency, and social cognition, closely paralleling the cerebellar cognitive affective syndrome (CCAS). Network-level imaging studies further demonstrate disruption of cortico-ponto-cerebellar and cerebello-thalamo-cortical connectivity, supporting a distributed rather than focal model of disease. We highlight the modulatory roles of development and chronic pain, critically evaluate cognitive outcomes after posterior fossa decompression, and discuss implications for assessment and future research. Recognizing CM1 as a disorder of cerebellar network integration has important consequences for clinical care and mechanistic investigation.

Charcot arthropathy of the shoulder is a rare manifestation of neuropathic joint disease and is most commonly associated with syringomyelia. When present, it often results in progressive joint destruction, but, due to minimal pain, it leads to delayed diagnosis. We report the case of a 54-year-old female presenting with a three-month history of left shoulder swelling, deformity, and severe restriction of range of motion, associated with ipsilateral wrist deformity. The patient had a known history of Chiari malformation type I with syringomyelia. Clinical examination revealed marked shoulder deformity with severe restriction of active motion and reduced sensation in the affected limb. Radiographs demonstrated advanced destructive changes of the glenohumeral joint with humeral head deformity and loose bodies. MRI revealed extensive shoulder joint effusion, rotator cuff muscle atrophy with relative deltoid preservation, and an extensive cervical syrinx extending from C2 to C7. A diagnosis of neuropathic (Charcot) arthropathy of the shoulder secondary to Chiari malformation with syringomyelia was established. Additional imaging showed obliteration of the first carpometacarpal (CMC) joint with subchondral sclerosis, cystic changes, and volar subluxation of the first metacarpal, as well as early degenerative changes at the ipsilateral elbow. The patient was managed conservatively with analgesics, protective measures, and multidisciplinary follow-up. Charcot arthropathy of the shoulder is an uncommon but important complication of syringomyelia associated with Chiari malformation type I. This case highlights the importance of early recognition of neuropathic arthropathy in patients with neurological disease. The combined involvement of the shoulder, wrist, and first CMC joint represents an unusual pattern of upper-limb neuropathic arthropathy and contributes to the existing literature on multi-joint involvement.

The simultaneous occurrence of Arnold-Chiari Malformation Type II (ACM II), syringomyelia, and an acquired tracheoesophageal fistula (TEF) in a young adult is exceptionally rare and represents a major diagnostic challenge. Arnold-Chiari Malformation II is characterized by the herniation of cerebellar structures through the foramen magnum. It usually presents in infancy in association with myelomeningocele; co-existing TEF and syringomyelia in an adult, as in our patient, is seldom documented. Notably, the present case represents a Chiari II phenotype without spinal dysraphism, lying outside the classic definition that requires an associated myelomeningocele. A 21-year-old male presented with a two-year history of progressive neurological and oropharyngeal symptoms. He also reported nasal regurgitation, cervicogenic vertigo, photophobia, and hoarseness. Neurological examination revealed multidirectional nystagmus, optic atrophy in the right eye, right cerebellar signs, fasciculations, and fundoscopy showed a filled disc and temporal margin blurring in the right eye. MRI of the brain and cervical spine revealed a 10.3 mm herniation of the cerebellar tonsils below the foramen magnum, typical of ACM Type II with syringomyelia. The brain CT scan identified a tracheoesophageal fistula above the carina with a 0.5 cm communication and a diverticulum on the right side of the trachea. Initially, the patient was treated symptomatically with antihistamines, antibiotics, and nasal sprays. The patient was also given multidisciplinary consultation for neurosurgical decompression and underwent posterior fossa decompression surgery, including suboccipital craniectomy and C1 laminectomy, to relieve compression at the foramen magnum and restore cerebrospinal fluid flow. This case underscores an unusual constellation of ACM Type II with extracranial complications and highlights the diagnostic importance of neuroimaging in complex craniospinal presentations.

Background and Objectives: Endoscope-assisted posterior fossa decompression with duraplasty (PFDD) is a minimally invasive alternative treatment for Chiari I malformation; however, its comparative effectiveness remains unclear. Therefore, this study aimed to compare the outcomes of conventional open decompression with those of endoscope-assisted minimally invasive decompression combined with duraplasty to assess the balance between limited surgical exposure and associated technical challenges. Materials and Methods: This retrospective single-center study compared 22 patients who underwent endoscope-assisted PFDD with a historical cohort of 16 patients treated with conventional open PFDD. Patients with C1-2 instability, prior craniovertebral surgery, or concomitant pathology requiring an alternative surgical strategy were excluded. The clinical outcomes, radiological findings, surgical variables, and complications were analyzed. Results: Clinical improvement, overall recovery, and 3-month Chicago Chiari Outcome Scale (CCOS) scores were comparable between the groups. The endoscopic group had higher CCOS scores at discharge. Syrinx resolution rates were similar, whereas postoperative cisterna magna expansion was more limited in the endoscopic cohort. The endoscopic approach was associated with a significantly shorter incision length and earlier mobilization. The rates of complications, including pseudomeningocele, cerebrospinal fluid fistula, and wound infection, did not differ significantly between the groups. Conclusions: Endoscope-assisted PFDD may be a less invasive alternative with comparable short-term clinical and radiological outcomes. Despite the technical challenges related to a limited working corridor, it can be considered a feasible option for selected patients.

Congenital diaphragmatic hernia (CDH) associated with neural tube defects is exceedingly rare. We report a female neonate (2550 g) born at 35 weeks (Apgar 2/4/5) with severe left-sided Bochdalek CDH, lumbosacral myelomeningocele, Chiari II malformation, and unilateral renal dysplasia. Maternal history revealed no folic acid supplementation. Despite intensive care and inhaled nitric oxide for persistent pulmonary hypertension, the patient died at 72 h. This case highlights the value of prenatal ultrasound in detecting multisystem anomalies and supports the concept of early embryologic mesodermal disruption, potentially exacerbated by nutritional deficiencies.

The tectal plate can be affected by a broad spectrum of pathological processes, resulting in diverse clinical manifestations. These include primary or metastatic tumors, granulomatous diseases, cerebrovascular malformations, ischemic insults, traumatic injury, lipomas, cysticercosis, and degenerative disorders. However, isolated tectal thickening is typically not regarded as a pathological entity and remains insufficiently investigated. This study retrospectively analyzed the clinical and radiological features of 50 patients presenting to the Ankara University Faculty of Medicine between 2012 and 2023 who exhibited tectal thickening on neuroimaging. The objective was to evaluate the association between tectal thickness and clinical symptoms, as well as related radiological pathologies. Clinical data and imaging findings were assessed to investigate correlations between tectal thickening and conditions such as hydrocephalus, Chiari II malformation, syringomyelia, and cerebral atrophy. Statistical analyses were performed to delineate the clinical significance of increased tectal thickness and to explore its potential role in diagnosis and management. All 50 patients demonstrated tectal thickening, with hydrocephalus identified in 76% of cases. Tectal thickness was significantly greater in patients with Chiari II malformation and syringomyelia. However, tectal thickening did not have a statistically significant effect on the area of the cerebral aqueduct. No association was observed between tectal thickening and visual or auditory symptoms. The risk of malignant transformation was found to be low. This study demonstrates a significant association between increased tectal thickness, hydrocephalus, and specific craniospinal pathologies. These findings suggest that tectal thickening may represent a relevant radiological feature associated with distinct clinical and imaging characteristics, warranting further investigation in larger prospective studies.

Background and Objectives: The optimal surgical technique for Chiari type I malformation (CM-I) remains debated, particularly in patients without syringomyelia. While duraplasty (DP+) may enhance radiological outcomes, it can carry higher complication risks. We compared clinical, radiological, and morphometric outcomes after suboccipital decompression with DP+ and without duraplasty (DP-), with prespecified subgroup analyses by syringomyelia status. Materials and Methods: Ninety-three consecutive adult CM-I underwent DP- (n = 54) or DP+ (n = 39) between 2014 and 2022. Pre- and post-operative MRI and neurological evaluations were obtained at 1 year. Functional recovery was assessed using the Chicago Chiari Outcome Scale (CCOS). Clinical and radiological outcomes, complication rates, and subgroup results (with vs. without syringomyelia) were compared. Results: Overall clinical improvement was observed in 92.5% of patients (DP-: 94.4%; DP+: 89.7%; p > 0.05). Among patients without syringomyelia, clinical improvement remained high with DP-. Radiological benefit-including syrinx regression and mega cisterna magna formation-was greater with DP+ (64.1% vs. 24.1%; p < 0.001), but this did not translate into improved functional outcomes (p > 0.05). Cerebellar slump occurred more often after DP+ (30.8% vs. 9.3%; p < 0.05). Complication rates, particularly CSF-related events, were significantly higher with DP+ (17.9% vs. 3.7%, p = 0.032). Morphometric expansion of the foramen magnum did not correlate with functional outcomes. Conclusions: At 1-year follow-up, suboccipital decompression without duraplasty appears to provide comparable clinical improvement to DP+, with fewer complications, in selected CM-I patients without syringomyelia. Duraplasty offers radiological advantages, especially for syringomyelia, but at the cost of increased risk. Longer follow-up is necessary to determine the durability of these findings.

Background/Objectives: Minor physical anomalies (MPAs) are subtle morphological markers of disrupted neuroectodermal development occurring during early gestation. Their increased prevalence has been reported in several neurodevelopmental and psychiatric conditions, including schizophrenia. However, data on MPAs in pediatric psychosis remain limited. This exploratory descriptive study aimed to characterize the occurrence of MPAs and congenital malformations in children presenting with early-onset psychotic symptoms and to illustrate the clinical heterogeneity through two representative cases. Methods: All participants underwent a comprehensive head-to-toe examination by a trained child and adolescent psychiatrist to identify MPAs. Key anatomical regions, including the face, hair vortex, palate, and extremities, were systematically photographed. Results were corroborated by MRI brain screening and consulted with a clinical geneticist. Anomalies were classified using the standardized Elements of Morphology terminology. Results: Among the 19 study participants, seven (37%) were diagnosed with very early-onset schizophrenia (VEOS). Identified minor physical anomalies included epicanthus (n = 5), café au lait spots (n = 2), and discoloured spots (n = 1). Furthermore, major congenital malformations were detected, specifically Arnold-Chiari malformation type I (n = 1), incomplete hippocampal inversion (n = 1), and a temporal cortex malformation (n = 1). Conclusions: MPAs and selected neuroanatomical anomalies were observed in a subset of children with early-onset psychotic symptoms. While the small sample size and absence of a control group limit interpretability, these exploratory findings suggest that systematic physical examination may provide supportive clinical information in the assessment of pediatric psychosis. Larger, controlled studies are needed to clarify whether specific MPAs may serve as early markers of neurodevelopmental vulnerability.