UNASSIGNED: Acute hemorrhagic leukoencephalopathy (AHLE) is a rare and devastating condition that can present with various neurological symptoms. The predisposing and initiating factors of AHLE are not fully understood. AHLE has a high morbidity and significant mortality rates, however, our case presents a surviving young girl.
UNASSIGNED: Thirteen years old previously healthy girl was referred to the emergency department due to drowsiness, preceded by an upper respiratory infection 10 days earlier. Firstly, she was treated empirical with antiviral medication (Acyclovir) directed to herpes simplex virus and intravenous (IV) methylprednisolone pulses. When she did not respond well, intravenous immunoglobulin was administrated, which helped with the end-result diagnosis based on clinical and imaging findings.
UNASSIGNED: AHLE is a fatal rare demyelinating disease characterized by an acute rapidly progressive fulminant inflammation of the white matter, it is usually misdiagnosed due to being a diagnosis of exclusion, and the much more common other diseases, including infectious encephalitis, meningitis, fulminant multiple sclerosis, other causes of acute disseminated encephalomyelitis. Different types of CNS infiltrates, such as neutrophils in AHLE and lymphocytes in acute disseminated encephalomyelitis, do not support the idea of differentiating the two diseases. The process of differentiating between these two diseases relies mostly on laboratory and imaging findings, which are well demonstrated in this case report.
UNASSIGNED: The authors conclude this report by highlighting the dearth in published knowledge about this disease, and encouraging further studies be conducted about this topic.

暂无摘要。

UNASSIGNED: The clinical presentations of demyelinating diseases are variable and can range from mild symptoms to fulminant presentations. Acute disseminated encephalomyelitis is one of those diseases which usually follow an infection or vaccination.
UNASSIGNED: We report a case of extensive acute demyelinating encephalomyelitis (ADEM) with massive brain swelling. A 45-year-old female presented to the emergency room with status epilepticus. Patient has no history of any associated medical problems. Glasgow coma scale (GCS) was 15/15. CT brain was normal. Lumbar puncture was done and cerebrospinal fluid showed pleocytosis and increased protein content. About 2 days after admission, the conscious level rapidly deteriorated and GCS was 3/15, with the right pupil fully dilated and unreactive to light. Computed tomography and magnetic resonance imaging brain were done. We performed an urgent decompressive craniectomy as a life-saving procedure. Histopathological examination was suggestive of ADEM.
UNASSIGNED: Few cases of ADEM with brain swelling were reported, but there is no solid consensus about the appropriate management of these cases. Decompressive hemicraniectomy is a possible choice, but further research is needed to evaluate the proper timing, and indication of surgery.

BACKGROUND: Charcot-Marie-Tooth (CMT) is a group of inherited peripheral neuropathies characterized by wide genotypic and phenotypic variability. The onset is typically in childhood, and the most frequent clinical manifestations are predominantly distal muscle weakness, hypoesthesia, foot deformity (pes cavus) and areflexia. In the long term, complications such as muscle-tendon retractions, extremity deformities, muscle atrophy and pain may occur. Among CMT1, demyelinating and autosomal dominant forms, CMT1G is determined by mutations in the PMP2 myelin protein.
RESULTS: Starting from the index case, we performed a clinical, electrophysiological, neuroradiological and genetic evaluation of all family members for three generations; we identified p.Ile50del in PMP2 in all the nine affected members. They presented a typical clinical phenotype, with childhood-onset variable severity between generations and a chronic demyelinating sensory-motor polyneuropathy on the electrophysiologic examination; the progression was slow to very slow and predominant in the lower limbs. Our study reports a relatively large sample of patients, members of the same family, with CMT1G by PMP2, which is a rare form of demyelinating CMT, highlighting the genetic variability of the CMT family instead of the overlapping clinical phenotypes within demyelinating forms. To date, only supportive and preventive measures for the most severe complications are available; therefore, we believe that early diagnosis (clinical, electrophysiological and genetic) allows access to specialist follow-up and therapies, thereby improving the quality of life of patients.

Susac syndrome (SuS) is a rare neuroinflammatory disease that manifests with a triad of hearing loss, branch retinal artery occlusions, and encephalopathy. Patients with SuS are frequently misdiagnosed because the clinical trial is incompletely present at disease onset. In this report, we present a case of a 29-year-old man manifesting sleepiness, epilepsy, urinary dysfunction, and hemiparesis at the initial stage. Magnetic resonance imaging (MRI) revealed multiple abnormal signals located in the lateral paraventricular, corpus callosal, and pons. In addition, the patient had sustained elevation of CSF pressure and protein. ADEM was considered according to the clinical and radiographic findings. However, symptoms were not significantly improved after methylprednisolone therapy. He showed a vision decline in the third month after the disease onset. It was considered from intracranial hypertension or optic neuritis, and therefore retinal arteriolar impairment was ignored. As the disease progresses, cognitive decline was presented. Brain MRI exhibits multiple significant hyperintensities on the DWI sequence with speck-like gadolinium enhancement. Thus, PACNS was diagnosed. The SuS was not made until the presence of hearing decline in the 4 months after the disease onset. The case will be helpful for clinicians to better recognize the atypical initial manifestation of SuS.

Multiple sclerosis and neuromyelitis optica spectrum disorder may be seen in the acute setting of coronavirus disease 2019 (COVID-19) infection or even post-recovery. Such patients may present with optic neuropathy along with weakness in the back and lower limbs. Ascending paralysis can present with respiratory distress in acute COVID-19 infection and may even prove to be fatal. We report a unique case of a 16-year-old female with past history of COVID-19 infection having optic neuropathy, and radioimaging showing demyelinating plaques in the central nervous system with spinal cord edema. Serology showed positivity for rheumatoid arthritis, and the patient was managed with steroids and rituximab.

暂无摘要。

Bilateral idiopathic optic neuritis is an uncommon presentation of optic neuritis, and the initial treatment options are limited to corticosteroids with consideration for plasma exchange therapy as second-line therapy. We present the case of a 43-year-old deaf and mute patient whose ability to communicate via American Sign Language was severely impaired by her recurrent idiopathic bilateral optic neuritis. She was treated early and aggressively with both plasma exchange and corticosteroids within days of presentation and experienced rapid improvement in her vision. Early treatment with plasma exchange should be considered in patients whose impairment presents a significant communication barrier.

BACKGROUND: Neuromyelitis optica is an autoimmune disorder of the central nervous system that predominantly affects the optic nerves and spinal cord. The neuropathologic hallmark of the disease is deposits of antibodies and complement, loss of astrocytes, secondary degeneration of oligodendrocytes and neurons, and necrotic lesions with infiltration of neutrophilic and eosinophilic granulocytes. It can rarely be associated with hydrocephalus, but the cause and mechanisms that result in hydrocephalus are not clear.
METHODS: A 35-year-old woman with a history of neuromyelitis optica presented with a 5-day history of progressively worsening lethargy, fatigue, somnolence, and headaches. Imaging demonstrated new hydrocephalus without evidence of obstruction, and extensive periventricular enhancement concerning for active demyelination. She underwent placement of a ventriculostomy, and subsequently underwent endoscopic biopsy and ventriculoperitoneal shunt placement. Pathology confirmed demyelination secondary to neuromyelitis optica.
CONCLUSIONS: This case provides evidence of the rapid development of hydrocephalus in association with periventricular inflammation, without aqueductal stenosis. In a state of aquaporin-4 dysfunction such as in neuromyelitis optica, altered cerebrospinal fluid resorption could lead to acute hydrocephalus by a nonobstructive mechanism.

We report a rare case of acute disseminated encephalomyelitis (ADEM) secondary to a primary Epstein-Barr (EBV) infection, in a 22-year-old male. Symptomatic infectious mononucleosis and ADEM are both quite uncommon conditions in this age group.
UNASSIGNED: ADEM is a very rare CNS disorder; it is more common in childhood but can also be described in adults.The clinical evaluation must focus on the presence of recent signs of infection or vaccination.A normal cerebral scan does not rule out the disease and MRI must be performed to confirm the diagnoses.