ObjectiveTo report clinical, pathological and molecular genetic features in a Chinese family with hereditary motor and sensory neuropathy type 6. MethodsThe index case is a 15 years old boy.He developed progressive distal limb weakness at the age of 5.The disease deteriorated slowly,accompanied with contracture of achilles' tendon. At the age of 11 years old he suffered from decrease of visual acuity. At the age of 12, he found the muscular atrophy of both hands without sensory disturbances.Visual evoked potential revealed prolonged latency of bilateral P100. Ophthalmological examination showed bilateral optic atrophy. His mother had the similar symptoms at the age of 7 and reduced visual acuity at the age of 10. Nerve conduction velocity revealed in both pat1ents no compound motor and sensory nerve action potentials in most nerves or slightly reduced nerve conduction velocities with severely reduced amplitudes of the compound motor and sensory nerve action potentials. Sural nerve biopsy was performed on the proband.The sequence of MFN2 gene was analyzed in DNA from the index, his mother and 100 healthy controls.ResultsSural nerve biopsy revealed severe loss of myelinated fibers with few regenerating clusters.Ultrapathological examination showed a few of atypical bulbs of myelinated fibers, occasionally regenerating clusters, mitochondrial swelling and aggregation in a few of axons. A new mutation of W740R mutation in MFN2 gene has been identified in the index case, her mother, but not in 50 healthy controls. Conclusions A novel MFN2 gene mutation result in hereditary motor and sensory neuropathy type 6.Mild visual loss appeares after the lesion of spinal nerves. Demyelination of peripheral nerve appears in the disease.

Objective To explore the feasibility and the value of ultrasound transient elastography in the estimation of intraocular pressure.Methods Thirty-two cases of glancomatous patients' and twenty-eight healthy subjects'eyeball were examined by using ultrasound transient elastography,meanwhile using Photoshop image analysis software to quantitative analysis of blue gradation ratio of the front wall tissue of eyeball,then intraocular pressure were examined by NCT.The difference of quantitative data of blue gradation ratio of the front wall tissue of eyeball between glancomatous patients and healthy subjects were compared.The relationship of quantitative value of blue gradation ratio and intraocular pressure were established.Results The blue gradation ratio of the front wall tissue of eyeball in glancomatous patients were 0.37± 0.03,while in healthy subjects were 0.33 ± 0.02,there was a significant difference between glancomatous patients and healthy subjects (P < 0.01),and there was a linear relation between blue gradation ratio and intraocular pressure(r = 0.424,P < 0.05).Conclusions The ultrasound transient elastography can be used in estimation of intra-ocular pressure in glancomatous patients,and there is a linear relation in quantitative data between blue gradation ratio and intraocular pressure.

ObjectiveTo report a novel HTRA1 gene mutation caused cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) with migraine,urinary retention and constipation.MethodsThe patient was a 34-year-old woman who suffered from myalgia with cramp for 16 years,lumbago for 5 years,migraine and mild alopecia for 3 years,right hemiparesis for 5 months,and urinary retention and constipation for 1 month.Vertebral MRI showed degeneration of vertebral bodies with disc herniations.Brain MRI revealed diffuse white matter lesions and lacunar infarcts.Sural nerve and skin biopsies were performed in the patient. HTRA1 gene analysis was performed in patient,her parents and 2 brothers,and Notch3 gene analysis in the patient.ResultsThe sural biopsy demonstrated discontinuous of elastica internal with thickness of intima of arterioles.The capillary basement membranes were thickness with mini granular changes.A homozygous T to A transition at position 524( c.524T ＞ A) was found in HTRA1 gene.The heterozygous c.524T ＞ A mutation appeared in the parents and 2 brothers,but not in the controls.Notch3 mutations were not found in the patient. Conclusion CARASIL caused by novel homozygous c.524T ＞ A mutation of HTRA1 gene can present with migraine,urinary retention and constipation.

Objective To analyze the clinical characteristics of cerebral syphilitic gunma.Method The clinical characteristics,brain CT and MRI results and prognosis of 7 patients with cerebral syphilitic gumma admitted in Beijing Ditan Hospital from June 2012 to October 2016 were retrospectively analyzed.Results There were 5 females and 2 males in 7 patients.The symptoms or signs at onset were headache (n =5),increased white blood cells in cerebrospinal fluid (n =6) and increased protein contents in cerebrospinal fluid (n =6).Total 10 lesions were detected in 7 cases,including 7 in cerebral lobe,and 3 in cerebellum,corpus callosum or intercrural space.The brain MRI showed nodular reinforcement in 5 cases,irregular circular reinforcement in 2 cases and obvious edema around the lesions in 6 cases.The patients were given intravenous infusion of 400 million units common penicillin,q.4h for 2 wks,sequential intramuscular injection of 240 million units long-term penicillin q.w for 3 wks.Among 7 patients,1 case died,1 case showed symptomatic improvement and 5 cases obtained complete improvement with the significant imaging improvement.Conclusion Headache is the most common symptom at onset of cerebral syphilitic gumma,and the lesions mostly are located in the cerebral lobes with nodular enhancement in brain imaging,and the prognosis is generally good.

Objective:To summarize the clinical, pathological and muscle magnetic resonance imaging (MRI) features of human immunodeficiency virus (HIV)-associated nemaline myopathy (NM; HIV-NM).Methods:The present patient was a 23-year-old man with HIV infection who developed progressive proximal weakness and atrophy for more than 10 months. He was admitted to the Department of Neurology of Beijing Ditan Hospital in early June 2021. Electromyography showed myogenic findings. The serum creatine kinase was 202.4 U/L. CD 4+ count was 585×10 6/L. Serum monoclonal immunoglobulin (M protein) was negative. The patient underwent MRI examination of bilateral thigh muscles, biopsy of left biceps brachii and gene detection. The clinical, pathological and muscle MRI changes of HIV-NM were summarized based on the literature review. Results:MRI examination of bilateral thigh muscles showed edema changes. Muscle biopsy showed nemaline structures in some muscle fibers, accompanied by fiber atrophy and regeneration. No gene mutation related to clinical phenotype was found by second-generation sequencing. After intravenous immunoglobulin combined with prednisone, the patient′s weakness symptoms were significantly improved. A total of 17 cases of HIV-NM (including the present case) were identified in the literature, who were aged (33.7±9.1) years. Fifteen were males and two were females. All patients developed proximal limb weakness. Creatine kinase was normal or slightly elevated. Serum monoclonal protein was positive in 3 cases (3/7). Immunosuppressive therapy was effective.Conclusions:The main clinical characteristics of HIV-NM are progressive proximal limb weakness and muscle atrophy. The muscle pathology shows a large number of nemaline structures in atrophic muscle fibers. Muscle edema can be seen on muscle MRI. This is the first report of HIV-NM in China, which may be a special subtype of immune myopathy.

Objective To discuss the clinical characteristics of GBS in HIV-infected patients.Methods In this study we reviewed the clinical data of HIV-infected patients with a diagnosis of GBS attending to Beijing Ditan Hospital from January 2013 to December 2020，and reviewed the literature on this topic.Results We identified eight patients，all are male，aged 28 to 49 years. One patient occurs early in HIV infection，two patient occurs in chronic phase of HIV infection，two patient occurs in AIDS. GBS was the first symptom of HIV infection in three patient. All patients had limbs weakness，seven patients had paresthesias or sensory loss，cranial nerve abnormalities were observed in three patients，one patient has mechanical ventilation. CSF results were available in nine patients，CSF white blood cell was 11～16 cells/μl in six patients，3～5 cells/μl in two patients. CSF protein was increased in six patients and normal in two patients. Recent mycoplasma pneumoniae infection was found in patients 3，5，and 6，recent herpes simplex virus infection in patients 2，and EB virus was found in patients 4 cerebrospinal fluid. Four patients received 5 days of IVIG treatment，one patient was treated with IVIg and steroids，one patient received IVIG and plasmapheresis. Patients 5 had recurrent weakness from 10 weeks after the onset of symptoms. Four patients had improved during the course of treatment，three patients had full recovery. Conclusion HIV GBS occurs in early and late stages of HIV infection，and may follow the onset of AIDS，Clinical signs of GBS are similar for patients regardless of their HIV status，most patients have a good recovery when they received IVIG or plasmapheresis. This case highlighted the need for all clinicians to be aware that patients with symptoms of GBS，regardless of clinical history should be offered an HIV test.

The clinical manifestations,serum and cerebrospinal fluid (CSF) results,EEG and imaging findings of 4 cases of encephalitis with positive leucine-rich glioma inactivated protein 1 (LGI1)antibody admited from March 2017 to January 2019 were retrospectively analyzed.All 4 patients were males with a mean age of (42±17) years.Two patients had faciobrachial dystonic seizure(FBDS)as the main symptom,and 3 patients had epilepsy.There were normal blood sodium and no memory deficits in all 4 patients.The LGI1 antibody was positive in the serum and negative in the CSE.The longest diagnosis time was 5 months.The head MRIs were normal in 3 patients;and abnormal signals in the right basal ganglia were found in one case,and the lesicl became smaller after the treatment.Chest CT,abdominal CT,and pelvic CT did not detect tumors.All patients were treated with gamma globulin and glucocorticoids,they all had good prognosis.LGI1 antibody-positive encephalitis is mainly characterized by epilepsy. ldentifying FBDS would be helpful for early diagnosis.Timely treatments often result in good clinical prognosis.