Autosomal dominant lateral temporal lobe epilepsy with heterozygous RELN mutation：one family report and literature review / 中华神经科杂志

Objective:To investigate the clinical features, imaging features, gene diagnosis, treatment and prognosis of autosomal dominant lateral temporal epilepsy (ADLTE) with heterozygous RELN mutation.Methods:Clinical data of an ADLTE family caused by a heterozygous mutation in the RELN gene diagnosed in September 2019 at Qilu Hospital of Shandong University were collected. The clinical characteristics of ADLTE were analyzed, and literature review was conducted.Results:The male proband, 22 years old, was admitted with the clinical manifestations including seizures begun at temporal lobe, which specifically manifested as a sudden emergence of binaural hum, lasting for more than 10 seconds, and the symptoms can self-recover quickly. Half a month later, generalized tonic-clonic seizures attacked subsequently after a similar auditory aura. There were no abnormal findings in interictal electroencephalography (EEG) and magnetic resonance imaging (MRI). Following the family history, his father had similar auditory symptoms around the age of 20, and occasional secondarily generalized tonic-clonic seizures appeared. Antiepileptic drug can control better. The whole exome sequencing of three people in the family revealed that both the proband and his father had NM-005045: c.6068T>C heterozygous mutation in the RELN gene.Conclusions:ADLTE mostly occurs in juveniles or early adulthood. The main clinical manifestations are focal seizures with auditory auras, which can be followed by generalized tonic-clonic seizures. There are no abnormal findings in the interictal EEG and MRI. ADLTE is sensitive to drug treatment and has good clinical prognosis. The study identified a novel heterozygous mutation NM-005045: c.6068T>C in RELN gene, which is responsible for the development of ADLTE.

The clinical and radiological features of myelin oligodendrocyte glycoprotein antibody associated disease / 中华神经科杂志

Objective To explore the clinical and radiological features of myelin oligodendrocyte glycoprotein (MOG) antibody associated disease.Methods The clinical data of 22 MOG antibody associated disease cases treated in the Department of Neurology,Qilu Hospital of Shandong University from January 2017 to June 2019 were retrospectively analyzed.The clinical data of MOG antibody associated disease were summarized,including clinical and imaging features.Results Of the 22 included patients with MOG antibody associated disease,the average age was 38.5 years,13 were male and nine were female.Among them,11 cases manifested as aquaporin-4 (AQP4)-negative neuromyelitis optica spectrum disorder (NMOSD),four cases optic neuritis,two cases transverse myelitis,one case acute disseminated encephalomyelitis (ADEM),two cases cortical encephalitis and two cases vestibular neuronitis.Magnetic resonance imaging (MRI) results showed that multiple anatomical areas were involved.Among the nine patients with optic nerve involvement,five patients had longitudinally extensive optic nerve lesions,which were longitudinally enhanced.In eight patients,MRI lesions in the spinal cord showed mostly long or short segments involvement,involving 2-5 spinal cord segments.Five cases involved the cervical spinal cord,six cases involved the thoracic spinal cord,and one case involved the lumbar spinal cord.Brain MRI abnormalities were found in 13 cases and the lesions were mostly patchy and point-shaped.MRI lesions demonstrated T2 hyperintensity and some of them could be strengthened,which may involve the basal ganglia,thalamus,radiographic crown,frontal temporal lobe,brain stem and other parts.Among them,16 patients were sensitive to high-dose intravenous/oral methylprednisolone in the acute phase.Seven patients had recurrence after two months to two years of follow-up.Conclusions MOG antibody associated disease include multiple manifestations.Among them,AQP4-negative NMOSD is the most common form.The clinical manifestations of patients showed diversity.Imaging is characterized by multiple parts involvement such as optic nerve,spinal cord,and brain.Most patients are sensitive to high-dose intravenous/oral methylprednisolone,and have a good prognosis in the acute phase,but some patients may relapse.

The clinical and radiological features of myelin oligodendrocyte glycoprotein antibody associated disease / 中华神经科杂志

Objective@#To explore the clinical and radiological features of myelin oligodendrocyte glycoprotein (MOG) antibody associated disease.@*Methods@#The clinical data of 22 MOG antibody associated disease cases treated in the Department of Neurology, Qilu Hospital of Shandong University from January 2017 to June 2019 were retrospectively analyzed. The clinical data of MOG antibody associated disease were summarized, including clinical and imaging features.@*Results@#Of the 22 included patients with MOG antibody associated disease, the average age was 38.5 years, 13 were male and nine were female. Among them, 11 cases manifested as aquaporin-4 (AQP4)-negative neuromyelitis optica spectrum disorder (NMOSD), four cases optic neuritis, two cases transverse myelitis, one case acute disseminated encephalomyelitis (ADEM), two cases cortical encephalitis and two cases vestibular neuronitis. Magnetic resonance imaging (MRI) results showed that multiple anatomical areas were involved. Among the nine patients with optic nerve involvement, five patients had longitudinally extensive optic nerve lesions, which were longitudinally enhanced. In eight patients, MRI lesions in the spinal cord showed mostly long or short segments involvement, involving 2-5 spinal cord segments. Five cases involved the cervical spinal cord, six cases involved the thoracic spinal cord, and one case involved the lumbar spinal cord. Brain MRI abnormalities were found in 13 cases and the lesions were mostly patchy and point-shaped. MRI lesions demonstrated T2 hyperintensity and some of them could be strengthened, which may involve the basal ganglia, thalamus, radiographic crown, frontal temporal lobe, brain stem and other parts. Among them, 16 patients were sensitive to high-dose intravenous/oral methylprednisolone in the acute phase. Seven patients had recurrence after two months to two years of follow-up.@*Conclusions@#MOG antibody associated disease include multiple manifestations. Among them, AQP4-negative NMOSD is the most common form. The clinical manifestations of patients showed diversity. Imaging is characterized by multiple parts involvement such as optic nerve, spinal cord, and brain. Most patients are sensitive to high-dose intravenous/oral methylprednisolone, and have a good prognosis in the acute phase, but some patients may relapse.