NMC case report journal最新文献

Chiari malformation type I is a structural anomaly of the posterior fossa characterized by cerebellar tonsillar herniation through the foramen magnum, often associated with disrupted cerebrospinal fluid dynamics and elevated intracranial pressure. Papilledema is a rare ophthalmic manifestation in Chiari malformation type I, typically linked to increased intracranial pressure. Isolated visual symptoms without signs of intracranial pressure in pediatric Chiari malformation type I are particularly rare and poorly understood. We report a rare pediatric case of Chiari malformation type I in a 9-year-old girl presenting solely with bilateral papilledema and visual impairment, without typical symptoms of raised intracranial pressure such as headache. Magnetic resonance imaging revealed cerebellar tonsillar descent and cervical syringomyelia. Due to progressive visual decline and the absence of alternative diagnoses, the patient underwent foramen magnum decompression with C1 laminectomy. Postoperatively, visual acuity significantly improved, although papilledema persisted at 9 months. This case challenges the conventional view that papilledema in Chiari malformation type I is solely caused by elevated intracranial pressure. Alternative mechanisms, such as localized venous congestion, mechanical stress on the optic nerve, or regional cerebrospinal fluid flow disturbances, may contribute to papilledema. Persistent papilledema despite clinical improvement supports the hypothesis of localized rather than global intracranial pressure elevation. Pediatric presentations may differ from adult cases in symptomatology and pathophysiology, requiring careful diagnostic and therapeutic considerations. Surgical decompression may lead to functional visual recovery even if anatomical signs such as papilledema persist. This case underscores the need for further research into atypical presentations and underlying mechanisms of Chiari malformation type I, especially in pediatric populations.

Floppy infants caused by craniocervical instability in childhood are extremely rare. Furthermore, due to underdeveloped bone structures, treatment for it is extremely difficult. The patient was a 2-year-old boy who was referred at the age of 1 year for psychomotor developmental delay. The cause was unknown, so he was placed under observation. At the age of 2 years, he remained a floppy infant and had not yet acquired motor skills, so he was referred again. Neurologically, he was in a state of progressive motor paralysis of the limbs. Magnetic resonance imaging revealed damage to the medulla oblongata, and he was diagnosed with orthotopic os odontoideum. A C1 laminectomy was performed, with posterior fixation from a C2 translaminar screw to the occipital bone. The progression of the condition has halted, and the patient is currently undergoing rehabilitation. Here, we report the pathological diagnosis, surgical treatment, and orthotopic os odontoideum timing, a condition presenting with progressive craniocervical instability in infants.

Perimedullary arteriovenous fistulas at the craniocervical junction are rare, frequently present with subarachnoid hemorrhage, and require accurate identification of the shunt point-particularly in lesions involving the anterior spinal artery-to achieve durable cure. A 64-year-old man presented with dense posterior fossa subarachnoid hemorrhage caused by a high-flow craniocervical junction arteriovenous shunt supplied predominantly by a markedly enlarged right C2 radiculomedullary artery. Selective catheterization was unsuccessful. On day 1, suboccipital craniectomy with C1 laminectomy enabled posterior flow control by clipping the dominant feeder; however, the ventral shunt point could not be safely visualized. Postoperative angiography demonstrated persistent shunting with prominent anterior spinal artery contribution. One month later, definitive transoral anterior obliteration was performed in a hybrid operating room. Intraoperative digital subtraction angiography and intra-arterial indocyanine green angiography demonstrated caudal-to-rostral flow reversal from the anterior spinal artery into the ascending anterior spinal vein at the shunt point, located within the anterior median fissure on the ventral pial surface. The shunt was directly obliterated by simultaneous clipping of the anterior spinal artery branch and draining vein, with additional coagulation of minor feeders. Halo immobilization followed by delayed posterior C1-2 fixation was performed. Final angiography and serial magnetic resonance angiography confirmed complete cure, and the patient returned to work 10 months postoperatively, maintaining functional independence for more than 5 years. This case illustrates that, in carefully selected anterior spinal artery-involved high-flow craniocervical junction perimedullary arteriovenous fistulas, a staged strategy combining posterior flow control and definitive anterior direct obliteration can provide a safe and durable solution.

Superior articular process-pedicle impingement may be an underrecognized mechanical pain generator in posture-dependent axial low back pain. We report a case of a 32-year-old male professional football player who presented with low back pain that was provoked by forward flexion and right lateral bending and was refractory to conservative measures. Radiographs and computed tomography scans showed near-elimination of the osseous interval between the right S1 superior articular process and the caudal aspect of the right L5 pedicle, with reactive cortical change. Targeted infiltration of local anesthetic at the suspected impingement interface produced immediate pain relief, and facet-preserving full-endoscopic bony decompression led to sustained improvement at 3 months. We propose that superior articular process-pedicle impingement should be considered in patients presenting with posture-dependent axial low back pain. The following 3 features serve as a practical diagnostic triad: concordant provocation; radiographic or computed tomographic evidence of superior articular process-pedicle contact or near-contact; and an immediate response to targeted local anesthesia. Facet-preserving full-endoscopic decompression is a reasonable option for refractory cases.

Sphenoid wing dysplasia is a recognized diagnostic feature of neurofibromatosis type 1, yet it rarely occurs in isolation. We present the case of a girl who had pulsatile exophthalmos since birth and was diagnosed with sphenoid wing dysplasia at 1 year and 2 months of age, with no clinical or familial evidence of neurofibromatosis type 1 identified during long-term follow-up. Progressive herniation of the temporal lobe into the left orbit prompted surgical intervention at age 12. Using a 3-dimensional printed skull base model, a patient-specific, hand-bent titanium mesh was preoperatively fabricated and implanted via a frontotemporal approach to reconstruct the superior orbital wall and restore separation between the cranial and orbital compartments. Postoperatively, the pulsatile exophthalmos resolved completely, and a transient abduction deficit recovered within 6 months. Follow-up imaging confirmed stable mesh positioning and durable compartment separation, with satisfactory cosmetic results maintained at 2 years. This case expands the clinical spectrum of sphenoid wing dysplasia by illustrating a neurofibromatosis type 1-negative phenotype and supports 3-dimensional model-assisted, patient-specific titanium mesh reconstruction as an effective strategy for correcting spheno-orbital defects and eliminating pulsatile exophthalmos. Accumulation of similar cases is needed to refine surgical indications, optimize timing, and assess the long-term durability of implant materials.

Cardiac sarcoidosis elicits cardiac disorders due to granuloma formation in cardiac tissue; it can lead to cerebral infarcts. We encountered a 72-year-old Japanese male with isolated cardiac sarcoidosis diagnosed after a cardiogenic cerebral infarction. He suffered a sudden-onset disturbance of consciousness, aphasia, and right hemiparesis. His National Institutes of Health Stroke Scale score was 17. The diagnosis was left middle cerebral artery occlusion due to cardiogenic embolism. Percutaneous thrombectomy achieved thrombolysis and recanalization of the cerebral infarction; his National Institutes of Health Stroke Scale score improved to 0. Cardiac ultrasonography revealed an enlarged left atrial diameter, a thinned inferior ventricular wall, a ventricular aneurysm, and left ventricular systolic dysfunction. During the clinical course, ventricular tachycardia was noted; sarcoidosis was suspected as the underlying disease. As no definitive diagnosis could be made, he was discharged on the 54th day of hospitalization. 18F-fluorodeoxyglucose positron emission tomography in the outpatient department showed localized abnormal accumulation in the left ventricle, and he was diagnosed with isolated cardiac sarcoidosis. Steroid treatment was added to anticoagulation therapy. There have been no recurrent cerebral infarctions or lesions in other organs. Cardiac sarcoidosis can be 1 cause of cardiogenic cerebral infarction.

Jugular foramen dural arteriovenous fistulas are exceedingly rare vascular abnormalities, with only 10 cases documented so far. Their complex angioarchitecture and the risk of postoperative complications necessitate carefully planned treatment strategies. We present the case of an 82-year-old man who presented with transient dizziness. Digital subtraction angiography revealed a Cognard type V dural arteriovenous fistula at the right jugular foramen, fed by the neuromeningeal branch of the right ascending pharyngeal artery and draining into the perimedullary veins of the brainstem and spinal cord via a single right inferior petrosal vein. The lesion was successfully treated in a hybrid operating room using a multimodal approach. The procedure involved continuous neurophysiological monitoring and endoscopic disconnection of the draining vein, guided by superselective intra-arterial indocyanine green videoangiography. Complete disconnection was confirmed intraoperatively by digital subtraction angiography. To our knowledge, this is the first report of endoscopic disconnection of a jugular foramen dural arteriovenous fistula, specifically performed using intra-arterial indocyanine green videoangiography in a hybrid operating room. The combination of minimally invasive neuroendoscopy with superselective intra-arterial indocyanine green videoangiography provides both safety and effectiveness in the treatment of dural arteriovenous fistulas. This approach may be particularly advantageous for lesions in rare and anatomically complex regions such as the jugular foramen.

Ossification of the ligamentum flavum is a pathological condition that can cause progressive myelopathy or severe radiculopathy. Standard surgical management involves direct decompression via posterior resection of the ossification. However, there is a substantial risk of complications, including dural tears and iatrogenic instability. We report a rare case of lumbar ossification of the ligamentum flavum with degenerative spondylolisthesis treated solely by full-endoscopic trans-Kambin's triangle lumbar interbody fusion, aiming for indirect decompression and stabilization, without direct resection of the ossification. A 68-year-old woman had progressive low back pain, bilateral lower extremity radiculopathy, and severe neurogenic claudication, limiting ambulation to 100 m. Imaging revealed Meyerding Grade I L4-L5 spondylolisthesis with dynamic instability and significant canal stenosis due to ossification of the ligamentum flavum, measuring 4.06 mm in maximal thickness. She underwent single-level Kambin's triangle lumbar interbody fusion at L4-L5. Postoperatively, rapid improvement was observed (visual analog scale low back pain: 7→1, leg pain: 8→0; Oswestry Disability Index: 52%→10% at 3 years). Follow-up computed tomography/magnetic resonance imaging demonstrated progressive regression of the ossification, from 4.06 mm to 3.2 mm at 1 year and 1.46 mm at 3 years (64.0%). This case suggests that Kambin's triangle lumbar interbody fusion with indirect decompression is an effective surgical option in lumbar ossification of the ligamentum flavum with segmental instability. The remarkable regression of the ossification suggests that spinal stabilization may suppress pathological mechanical stress, shifting bone remodeling toward resorption, and supports a mechanistic hypothesis. Further prospective studies are warranted to validate this pathophysiological mechanism.

Immature teratomas of the pineal region are a subtype of non-germinomatous germ cell tumors typically associated with early recurrence. Ultra-late recurrence decades after initial treatment is exceedingly uncommon. We report an immature teratoma case in the pineal region that recurred 35 years after subtotal resection and chemoradiotherapy, showing somatic-type malignant transformation into adenoid cystic carcinoma-like adenocarcinoma. A 16-year-old boy initially underwent ventriculoperitoneal shunting followed by tumor resection, after the pathological confirmation of an immature teratoma (grade 2 according to the ovarian teratoma grading system). A small residual lesion remained, and the patient's condition remained stable for more than a decade, but he was lost to follow-up. At 51 years of age, the patient presented with obstructive hydrocephalus and tumor regrowth. Preoperative serum and cerebrospinal fluid tumor markers levels were normal. An endoscopic biopsy revealed poorly differentiated adenocarcinoma. Resection through an occipital transtentorial approach indicated tumor infiltration into the bilateral thalamus. Histology showed glandular and cartilaginous components with marked atypia and immunohistochemical features resembling adenoid cystic carcinoma, whereas germ cell markers were negative, thus establishing a diagnosis of teratoma with somatic-type malignant transformation. Despite ifosfamide, carboplatin, and etoposide chemotherapy (all at 50% dose) and stereotactic radiosurgery, the disease progressed with leptomeningeal dissemination, and the patient died 613 days after he underwent the second surgery. This case represents the longest reported interval of recurrence for a central nervous system immature teratoma and highlights the possibility of long-term tumor dormancy followed by malignant transformation. Lifelong surveillance is therefore warranted in patients with residual immature teratomas.

Surfer's myelopathy is a rare, nontraumatic spinal cord injury affecting novice surfers. Although spinal ischemia is considered the primary mechanism, whether the initial insult is arterial or venous remains controversial. We report a case of surfer's myelopathy with magnetic resonance imaging findings suggestive of venous congestion-radiological features that, to our knowledge, have not been previously described. A previously healthy 23-year-old man developed acute low back pain, progressive lower limb weakness, and bladder and bowel dysfunction after his first surfing experience. Magnetic resonance imaging on admission showed longitudinal T2 hyperintensity from T8/9 to the conus medullaris without abnormalities on diffusion-weighted imaging. On day 2, repeat magnetic resonance imaging again demonstrated no diffusion-weighted imaging changes, whereas the apparent diffusion coefficient map revealed hyperintensity, indicating vasogenic edema. These findings were more consistent with venous rather than arterial ischemia. The patient was treated with antiplatelet and anticoagulation therapy along with rehabilitation and ultimately achieved complete neurological recovery. This case may represent the first description of magnetic resonance imaging findings suggestive of venous congestion in surfer's myelopathy. Apparent diffusion coefficient hyperintensity in the absence of diffusion restriction may reflect reversible venous ischemia. Incorporating diffusion-weighted imaging and apparent diffusion coefficient maps into routine magnetic resonance imaging protocols for suspected surfer's myelopathy could provide valuable insight into pathophysiology and prognosis.