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Medicine Apr 2024Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering...
RATIONALE
Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering the etiology of JS, peripheral nervous system abnormalities cannot be excluded; however, cases of JS accompanied by peripheral nervous system abnormalities have not yet been reported. Distinct radiological findings on brain magnetic resonance imaging were considered essential for the diagnosis of JS. However, recently, cases of JS with normal or nearly normal brain morphology have been reported. To date, there is no consensus on the most appropriate diagnostic method for JS when imaging-based diagnostic approach is challenging. This report describes the case of an adult patient who exhibited bilateral peroneal neuropathies and was finally diagnosed with JS through genetic testing.
PATIENT CONCERNS AND DIAGNOSIS
A 27-year-old man visited our outpatient clinic due to a gait disturbance that started at a very young age. The patient exhibited difficulty maintaining balance, especially when walking slowly. Oculomotor apraxia was observed on ophthalmic evaluation. During diagnostic workups, including brain imaging and direct DNA sequencing, no conclusive findings were detected. Only nerve conduction studies revealed profound bilateral peroneal neuropathies. We performed whole genome sequencing to obtain a proper diagnosis and identify the gene mutation responsible for JS.
LESSONS
This case represents the first instance of peripheral nerve dysfunction in JS. Further research is needed to explore the association between JS and peripheral nervous system abnormalities. Detailed genetic testing may serve as a valuable tool for diagnosing JS when no prominent abnormalities are detected in brain imaging studies.
Topics: Humans; Male; Adult; Kidney Diseases, Cystic; Cerebellum; Eye Abnormalities; Peroneal Neuropathies; Abnormalities, Multiple; Retina; Magnetic Resonance Imaging
PubMed: 38669389
DOI: 10.1097/MD.0000000000037987 -
Cureus Mar 2024Epstein-Barr virus (EBV) can cause follicular conjunctivitis, keratitis, oculoglandular syndrome, meningitis, and encephalitis. We report a 54-year-old Hispanic male who...
Epstein-Barr virus (EBV) can cause follicular conjunctivitis, keratitis, oculoglandular syndrome, meningitis, and encephalitis. We report a 54-year-old Hispanic male who presented with right pupil-involved complete ophthalmoplegia, orbital and masticatory muscle inflammation, trigeminal enhancement, and new corneal infiltrate highly suggestive of EBV. Labwork was negative except for positive EBV polymerase chain reaction (PCR) in serum. Magnetic resonance imaging (MRI) of his brain and orbits with contrast showed enhancement of the right ganglion of the trigeminal nerve, oculomotor nerve, all extraocular muscles in the right orbit, and right masticatory and temporalis muscles and a right subacute lacunar infarct. The patient was diagnosed with encephalitis and orbital-face inflammation secondary to EBV infection. The patient improved with systemic steroids.
PubMed: 38659504
DOI: 10.7759/cureus.56888 -
Indian Journal of Ophthalmology May 2024
Topics: Humans; Retinal Ganglion Cells; Tomography, Optical Coherence; Macula Lutea; Oculomotor Muscles; Male; Female; Nerve Fibers; Follow-Up Studies; Ophthalmologic Surgical Procedures; Adult; Strabismus
PubMed: 38648439
DOI: 10.4103/IJO.IJO_2353_23 -
Sichuan Da Xue Xue Bao. Yi Xue Ban =... Mar 2024To study the microanatomic structure of the subtemporal transtentorial approach to the lateral side of the brainstem, and to provide anatomical information that will...
OBJECTIVE
To study the microanatomic structure of the subtemporal transtentorial approach to the lateral side of the brainstem, and to provide anatomical information that will assist clinicians to perform surgeries on the lateral, circumferential, and petroclival regions of the brainstem.
METHODS
Anatomical investigations were conducted on 8 cadaveric head specimens (16 sides) using the infratemporal transtentorial approach. The heads were tilted to one side, with the zygomatic arch at its highest point. Then, a horseshoe incision was made above the auricle. The incision extended from the midpoint of the zygomatic arch to one third of the mesolateral length of the transverse sinus, with the flap turned towards the temporal part. After removing the bone, the arachnoid and the soft meninges were carefully stripped under the microscope. The exposure range of the surgical approach was observed and the positional relationships of relevant nerves and blood vessels in the approach were clarified. Important structures were photographed and the relevant parameters were measured.
RESULTS
The upper edge of the zygomatic arch root could be used to accurately locate the base of the middle cranial fossa. The average distances of the star point to the apex of mastoid, the star point to the superior ridge of external auditory canal, the anterior angle of parietomastoid suture to the superior ridge of external auditory canal, and the anterior angle of parietomastoid suture to the star point of the 10 adult skull specimens were 47.23 mm, 45.27 mm, 26.16 mm, and 23.08 mm, respectively. The subtemporal approach could fully expose the area from as high as the posterior clinoid process to as low as the petrous ridge and the arcuate protuberance after cutting through the cerebellar tentorium. The approach makes it possible to handle lesions on the ventral or lateral sides of the middle clivus, the cistern ambiens, the midbrain, midbrain, and pons. In addition, the approach can significantly expand the exposure area of the upper part of the tentorium cerebelli through cheekbone excision and expand the exposure range of the lower part of the tentorium cerebelli through rock bone grinding technology. The total length of the trochlear nerve, distance of the trochlear nerve to the tentorial edge of cerebellum, length of its shape in the tentorial mezzanine, and its lower part of entering into the tentorium cerebelli to the petrosal ridge were (16.95±4.74) mm, (1.27±0.73) mm, (5.72±1.37) mm, and (4.51±0.39) mm, respectively. The cerebellar tentorium could be safely opened through the posterior clinoid process or arcuate protrusion for localization. The oculomotor nerve could serve as an anatomical landmark to locate the posterior cerebral artery and superior cerebellar artery.
CONCLUSION
Through microanatomic investigation, the exposure range and intraoperative difficulties of the infratemporal transtentorial approach can be clarified, which facilitates clinicians to accurately and safely plan surgical methods and reduce surgical complications.
Topics: Humans; Cadaver; Brain Stem; Temporal Bone; Cranial Fossa, Middle; Craniotomy
PubMed: 38645855
DOI: 10.12182/20240360506 -
Medicine Apr 2024Isolated ischemic oculomotor nerve palsy as a type of ophthalmic disease is rarely observed in clinical practice. Quality of life is frequently impacted by isolated...
BACKGROUND
Isolated ischemic oculomotor nerve palsy as a type of ophthalmic disease is rarely observed in clinical practice. Quality of life is frequently impacted by isolated ischemic oculomotor nerve palsy due to its lack of treatment options and long-term visual impairment. We describe an acupuncture-treated instance of isolated ischemic oculomotor paralysis.
METHODS
Acupoints including Jingming (BL 1), Chengqi (ST 1), Cuanzhu (BL 2), and Sizhukong (TE 23) on the right side, and bilateral Fengchi (GB 20), Waiguan (TE 5), Hegu (LI 4), and Zulinqi (GB 41) were selected for needling. Each treatment lasted for 30 minutes, once every other day. Acupuncture treatment was administered for a total of 11 times.
RESULTS
Acupuncture is a promising treatment option for isolated ischemic oculomotor nerve palsy.
CONCLUSIONS
Ischemic oculomotor nerve paralysis can affect the quality of life of patients. Acupuncture intervention can promote the recovery of the disease is a very effective treatment measure.
Topics: Humans; Quality of Life; Acupuncture Therapy; Acupuncture Points; Oculomotor Nerve Diseases; Acupuncture
PubMed: 38640311
DOI: 10.1097/MD.0000000000037850 -
Surgical Neurology International 2024Standalone coil embolization is often less effective for partially thrombosed intracerebral aneurysms (PTIA) because of the risk of frequent recurrence if the coil...
BACKGROUND
Standalone coil embolization is often less effective for partially thrombosed intracerebral aneurysms (PTIA) because of the risk of frequent recurrence if the coil migrates into the thrombus. This report describes a case of PTIA at the basilar tip in which simple coil embolization using a Target 3D Coil resulted in sustained remission without recurrence during long-term follow-up.
CASE DESCRIPTION
The patient was a 63-year-old male who presented with right oculomotor nerve palsy after having undergone direct surgery for a basilar artery aneurysm 15 years earlier. Recurrence with partial thrombosis of the basilar artery aneurysm was diagnosed. Target 3D Coil embolization with frame construction in the aneurysmal sac was performed, resulting in the complete disappearance of the aneurysm and improvement of the oculomotor nerve palsy. Magnetic resonance imaging at five years postoperatively confirmed that the thrombus had completely disappeared, and there was no recurrence of the aneurysm. The closed loops in the Target 3D Coil may have contributed to the cohesive mass of coils remaining in the sac of the PTIA, potentially leading to healing.
CONCLUSION
The characteristics of the Target 3D Coil may have prevented migration of the coil into the thrombus, potentially contributing to the successful resolution of the aneurysm.
PubMed: 38628531
DOI: 10.25259/SNI_44_2024 -
Cureus Mar 2024Carcinomatous meningitis (CM) is characterized by the multifocal dissemination of malignant cells into the cerebrospinal fluid (CSF), pia mater, and subarachnoid space....
Carcinomatous meningitis (CM) is characterized by the multifocal dissemination of malignant cells into the cerebrospinal fluid (CSF), pia mater, and subarachnoid space. Involvement can occur in the advanced stage of malignancy, causing multifocal involvement and a wide array of symptoms. Diagnosis requires suspicions and a multimodal approach that includes imaging, lumbar puncture, and diagnostic laboratory evaluation. This case represents a female with a history of non-Hodgkin's lymphoma (NHL) and venous thromboembolism on chronic anticoagulation who presented due to acute encephalopathy, hallucinations, and right cranial nerve III palsy for 10 days before arrival. Computed tomography (CT) and angiography of the brain did not show any intracranial abnormalities. Subsequent magnetic resonance imaging (MRI) was without signs of infarction, hemorrhage, or abnormal enhancement, with the MRI of the orbits showing asymmetric linear enhancement anterior to the superior pons and midbrain on the right. Initial differential included a paraneoplastic syndrome, but there was no obvious evidence of pathological enhancement on MRI. Due to progressive bulbar symptoms, a lumbar puncture was performed with cerebrospinal fluid diagnostic workup with cytology showing monoclonal B-cell proliferation consistent with lymphoma. This case illustrates a rare but specific finding of CM as cranial nerve III palsy symptoms in this patient who did not have imaging findings that would reflect her symptoms on the initial MRI of the brain. Furthermore, diagnosing CM is complex and involves a combination of multiple diagnostic and treatment modalities. It is important to recognize the condition early to improve the patient's quality of life, prolong survival, and stabilize neurological deterioration.
PubMed: 38623120
DOI: 10.7759/cureus.56277 -
Neurologia May 2024To investigate the effect of endovascular embolization of posterior communicating artery (Pcom) aneurysms on concomitant oculomotor nerve palsy (OMNP) and factors...
PURPOSE
To investigate the effect of endovascular embolization of posterior communicating artery (Pcom) aneurysms on concomitant oculomotor nerve palsy (OMNP) and factors affecting the effect of treatment.
MATERIALS AND METHODS
Patients with the Pcom aneurysms concomitant with OMNP were retrospectively enrolled for endovascular treatment of the aneurysms. All patients had the endovascular management. The clinical effect, degree of OMNP, size of the aneurysm, type of treatment, subarachnoid hemorrhage (SAH), and time from onset to treatment were analyzed on the resolution of OMNP.
RESULTS
Ninety-six patients with 99 Pcom aneurysms were enrolled and treated endovascularly, with the success rate of 100%. Immediately after endovascular treatment, 75 aneurysms (75.75%) got complete occlusion, and 24 (24.24%) nearly complete occlusion. Followed up for 3-18 (mean 8.52±0.56) months, complete resolution of the OMNP was achieved in 63 patients (65.63%), partial resolution in 21 (21.88%), and non-recovery in the other 12 (12.50%). The degree of OMNP at onset, SAH, and time from onset to treatment were significantly (P<0.05) correlated with the resolution of OMNP. Univariate analysis revealed that younger age of the patient, degree of OMNP at onset, presence of subarachnoid hemorrhage, and time from disease onset to treatment were significantly (P<0.05) associated with the recovery of OMNP. Multivariate analysis revealed that the younger age, degree of OMNP at onset, and time from disease onset to treatment were significantly (P<0.05) associated with the recovery of OMNP.
CONCLUSION
Endovascular embolization of Pcom aneurysms concomitant with OMNP can effectively improve the OMNP symptoms, especially for patients with moderate and a shorter history of OMNP. Younger age, degree of oculomotor nerve palsy at onset, and time from onset to treatment may significantly affect recovery of oculomotor nerve palsy.
Topics: Humans; Intracranial Aneurysm; Subarachnoid Hemorrhage; Retrospective Studies; Embolization, Therapeutic; Oculomotor Nerve Diseases
PubMed: 38616058
DOI: 10.1016/j.nrleng.2021.07.006