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The New England Journal of Medicine Jun 2024
Review
Topics: Humans; Arnold-Chiari Malformation; Female; Magnetic Resonance Imaging
PubMed: 38899696
DOI: 10.1056/NEJMra2308055 -
BMJ Case Reports Jun 2024The authors were presented with a term female neonate with a large occipital mass, who was already being treated for neonatal pneumonia at another hospital. On...
The authors were presented with a term female neonate with a large occipital mass, who was already being treated for neonatal pneumonia at another hospital. On assessment, apart from the mass, the patient presented with an unremarkable systemic and neurological physical examination. She underwent repair of the occipital mass, which was complicated by nosocomial ventriculitis. However, the patient was discharged well after completing antibiotic treatment. On regular outpatient follow-ups, the patient presented with a good cry, suck, and activity. There have been no reports of seizures, decrease in sensorium, aspiration episodes, stridor or any other complaints, apart from poor head and sitting control. The workup also showed profound bilateral hearing loss. Despite these complications, the patient currently exhibits good visual and social development. This is attributed to timely intervention as well as the minimal amount of herniated cerebellar tissue that the patient presented with, highlighting the individualised management and outcomes for cases of Chiari malformation type III.
Topics: Humans; Female; Arnold-Chiari Malformation; Infant, Newborn; Magnetic Resonance Imaging; Treatment Outcome
PubMed: 38886000
DOI: 10.1136/bcr-2023-259479 -
Veterinary Research Communications Jun 2024Two 1-day-old full-term female calves from different farms located in the Brazilian state of Rio Grande do Sul were unable to stand due to paresis of the pelvic limbs....
Two 1-day-old full-term female calves from different farms located in the Brazilian state of Rio Grande do Sul were unable to stand due to paresis of the pelvic limbs. Both calves had spina bifida on the spinal lumbar segment and were submitted to euthanasia due to poor prognosis. Postmortem examination revealed cerebellar herniation, caudal displacement of the brainstem, rostral deviation of the cranial nerves, caudal extension of occipital lobes, absence of dorsal lamina of lumbar vertebrae with exposed spinal cord, myelodysplasia, kyphosis, segmental spinal agenesis, renal fusion, muscular atrophy, and arthrogryposis. Histology highlighted myelodysplasia (syringomyelia and diplomyelia) and muscular atrophy. The reverse transcription-polymerase chain reactions for ruminant pestivirus were negative. Based on these lesions, the diagnosis of complex neural tube and skeletal malformations was made. A review of previous publications on calves diagnosed with these malformations, originally called Chiari or Arnold-Chiari malformations, revealed a wide range of nervous system and skeletal lesions. These variations amplified the uncertainty regarding whether all cases represent the same disorder and reinforced the importance of reconfiguring the terminology.
PubMed: 38884867
DOI: 10.1007/s11259-024-10437-6 -
Scientific Reports Jun 2024Chiari type 1 malformation is a neurological disorder characterized by an obstruction of the cerebrospinal fluid (CSF) circulation between the brain (intracranial) and...
Chiari type 1 malformation is a neurological disorder characterized by an obstruction of the cerebrospinal fluid (CSF) circulation between the brain (intracranial) and spinal cord (spinal) compartments. Actions such as coughing might evoke spinal cord complications in patients with Chiari type 1 malformation, but the underlying mechanisms are not well understood. More insight into the impact of the obstruction on local and overall CSF dynamics can help reveal these mechanisms. Therefore, our previously developed computational fluid dynamics framework was used to establish a subject-specific model of the intracranial and upper spinal CSF space of a healthy control. In this model, we emulated a single cough and introduced porous zones to model a posterior (OBS-1), mild (OBS-2), and severe posterior-anterior (OBS-3) obstruction. OBS-1 and OBS-2 induced minor changes to the overall CSF pressures, while OBS-3 caused significantly larger changes with a decoupling between the intracranial and spinal compartment. Coughing led to a peak in overall CSF pressure. During this peak, pressure differences between the lateral ventricles and the spinal compartment were locally amplified for all degrees of obstruction. These results emphasize the effects of coughing and indicate that severe levels of obstruction lead to distinct changes in intracranial pressure.
Topics: Arnold-Chiari Malformation; Cough; Humans; Hydrodynamics; Cerebrospinal Fluid; Computer Simulation; Cerebrospinal Fluid Pressure; Spinal Cord; Female
PubMed: 38830910
DOI: 10.1038/s41598-024-62374-8 -
Archives of Razi Institute Dec 2023Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the abnormal development of the cervical spine, leading to the fusion of two or more cervical...
Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the abnormal development of the cervical spine, leading to the fusion of two or more cervical vertebrae. The syndrome presents diverse symptoms, including limited neck movement, chronic pain, and neurological manifestations such as limb numbness or weakness. The severity of KFS can vary significantly, and treatment primarily focuses on symptom management and preventing complications such as scoliosis or spinal cord compression. Surgical interventions are often necessary for patients with complex forms of the syndrome. Interestingly, Chiari 1 malformation, a cranial anomaly affecting the brainstem, can coincide anatomically with KFS. In this case report, we present the case of a 9-year-old patient who sought medical attention due to persistent, unchanging neck pain. The patient's medical history was notable for developmental delays and cervical restraint observed during physical examination. Magnetic resonance imaging (MRI) findings revealed hydrocephalus and brainstem descent, indicating the presence of Chiari 1 malformation. Comprehensive MRI and CT scans were performed, and a management plan was formulated, primarily involving cranial surgery and physiotherapy. Implementation of the treatment approach resulted in significant improvement in the patient's symptoms. This case highlights the significance of considering Chiari 1 malformation as a potential comorbidity in patients diagnosed with KFS who present with persistent neck pain. Early detection and appropriate management of both conditions are crucial for achieving favorable outcomes and enhancing the quality of life for affected individuals. Understanding the complex interplay between KFS and Chiari 1 malformation is essential for providing comprehensive care and tailored treatment strategies. Further research is warranted to elucidate the underlying mechanisms linking these two conditions and to explore optimal management approaches for patients with dual pathology. By reporting this case, we contribute to the existing literature and increase awareness among healthcare professionals regarding the potential coexistence of KFS and Chiari 1 malformation. Continued efforts in identifying associated anomalies and optimizing therapeutic interventions will aid in improving patient outcomes and ensuring optimal care for individuals affected by these conditions.
Topics: Klippel-Feil Syndrome; Humans; Child; Magnetic Resonance Imaging; Arnold-Chiari Malformation; Male; Tomography, X-Ray Computed; Neck Pain; Female
PubMed: 38828178
DOI: 10.32592/ARI.2023.78.6.1868 -
Neurology India Mar 2024
Topics: Humans; Arnold-Chiari Malformation
PubMed: 38817188
DOI: 10.4103/neurol-india.Neurol-India-D-24-00173 -
Alpha Psychiatry Mar 2024Undiagnosed underlying medical conditions can cause many patients to be followed, for years, by a diagnosis of a primary psychiatric disorder and to receive...
BACKGROUND
Undiagnosed underlying medical conditions can cause many patients to be followed, for years, by a diagnosis of a primary psychiatric disorder and to receive inappropriate treatment. The aim of this study was to determine the prevalence of patients initially diagnosed with a primary psychiatric disorder but whose symptoms were later attributed to medical conditions. These patients' initial and final diagnoses were also examined.
METHODS
The records of 1843 patients hospitalized in Gazi University Faculty of Medicine Psychiatric Inpatient Clinic between 2015 and 2020 were examined in this retrospective and descriptive study. Thirteen patients were excluded from the study due to insufficient data. Descriptive statistics were performed on the data of 30 patients diagnosed with an underlying medical condition.
RESULTS
In follow-up, 49 patients' diagnoses changed. 19 patients had a diagnosis unrelated to an underlying medical condition, and 30 had a diagnosis related to an underlying medical condition. Five (16.7%) of the patients, previously known to have psychiatric disorders, were found to have Alzheimer's disease. Brain space-occupying lesions, frontotemporal dementia, epilepsy, Parkinson's disease, and Arnold-Chiari malformation followed Alzheimer's disease at 6.7% (n = 2). The mean time until the diagnosis of the patients was revised was 4.95 years (standard deviation [SD] = 7.78). It was observed that psychotropic medications (90%) were used more than non-psychotropic drugs until the diagnosis was revised.
CONCLUSION
During the diagnostic process, we believe that clinicians should be aware of potential underlying medical conditions and that the multidisciplinary work of psychiatry and neurology is also crucial.
PubMed: 38798811
DOI: 10.5152/alphapsychiatry.2024.231274 -
Journal of Biomechanics May 2024Chiari Malformation (Chiari) is a congenital condition occurring from an inferior herniation of the cerebellar tonsils into the foramen magnum. Given the role of the...
Chiari Malformation (Chiari) is a congenital condition occurring from an inferior herniation of the cerebellar tonsils into the foramen magnum. Given the role of the cerebellum in postural control, it is reasonable to expect joint motion to be affected in this patient population. In fact, joint stiffness is a common self-reported symptom of Chiari, however it has never been assessed in these individuals. This study aimed to examine if ankle joint quasi-stiffness is correlated with Chiari severity. The human body was considered as an inverted oscillating pendulum without damping. A Fast Fourier Transform was used to extract natural frequency from the center of pressure trajectories during upright standing. Ankle joint quasi-stiffness was then calculated using the relationship between natural frequency and moment of inertia. Twelve Chiari participants (Chiari), six with decompression surgery (Chiari-D) and six without (Chiari-ND), and eight control individuals (Control) participated. Participants completed three, 30-second quiet standing trials on a force plate, focused on a target three meters in front of them. Chiari, regardless of surgery, had significantly lower quasi-stiffness than controls (Chiari-D vs. Control p = 0.0011, Chiari-ND vs. Control, p < 0.001). The proposed method is advantageous as it incorporates the entire center of pressure signal, minimizes error from instantaneous muscular dynamics, and does not require motion capture.
Topics: Humans; Arnold-Chiari Malformation; Female; Adult; Male; Ankle Joint; Standing Position; Biomechanical Phenomena; Middle Aged
PubMed: 38749240
DOI: 10.1016/j.jbiomech.2024.112146 -
Advances and Technical Standards in... 2024Open spina bifida, also known as myelomeningocele (MMC), is the most challenging and severe birth defect of the central nervous system compatible with life and it is due... (Review)
Review
Open spina bifida, also known as myelomeningocele (MMC), is the most challenging and severe birth defect of the central nervous system compatible with life and it is due to a failure in the dorsal fusion of the nascent neural tube during embryonic development. MMC is often accompanied by a constellation of collateral conditions, including hydrocephalus, Arnold - Chiari II malformation, brainstem disfunction, hydrosyringomyelia, tethered cord syndrome and scoliosis. Beyond early surgical repair of the dorsal defect, MMC requires lifelong cares. Several additional surgical procedures are generally necessary to improve the long-term outcomes of patients affected by MMC and multidisciplinary evaluations are crucial for early identification and management of the various medical condition that can accompany this pathology. In this chapter, the most common pathological entities associated with MMC are illustrated, focusing on clinical manifestations, treatment strategies and follow up recommendations.
Topics: Humans; Meningomyelocele; Neurosurgical Procedures
PubMed: 38700682
DOI: 10.1007/978-3-031-42398-7_6 -
International Medical Case Reports... 2024Arnold-Chiari malformation is a displacement of the brain into the spinal canal, often leading to hemodynamic distress. Arnold-Chiari malformation type III (CM III) is a...
Arnold-Chiari malformation is a displacement of the brain into the spinal canal, often leading to hemodynamic distress. Arnold-Chiari malformation type III (CM III) is a rare and severe type that requires early detection to prevent complications. We aim to report this rare presentation of CM III. A 16-month-old girl with a massive tumor of the occiput suspected to be a meningoencephalocele with CM III was referred to the neurosurgery department. The patient was assessed with class 3 American Society of Anesthesiologist classification, posed challenges due to a difficult airway and the presence of a meningoencephalocele. The patient was scheduled for an elective surgery. Preoperative, the patient was lethargic with an abnormal heart rate and blood pressure. Induction was performed while preserving spontaneous ventilation, but was assisted by an oropharyngeal airway due to a short neck and obesity. The patient later developed laryngospasm thus, muscle relaxant and propofol were administered. A rescue laryngeal mask airway was inserted due to desaturation. Intubation was performed with video laryngoscope. When the surgeon opened the cele and removed the cerebrospinal fluid, the blood pressure began to decline. Resection of brain tissue caused the patient started to bleed, fluid and blood products were administered. At the end of surgery, the patient had stable hemodynamics and was transferred to the pediatric intensive care for monitoring. In patients with massive occipital meningoencephalocele and CM III, anesthetic management requires smooth intubation and prevention of excessive manipulation of the cervical joint to prevent increased intracranial pressure. The patient was not extubated because the brainstem could not be sufficiently reduced coupled with significant autonomic dysfunction.
PubMed: 38681994
DOI: 10.2147/IMCRJ.S453554