Myotonic dystrophy / 中华神经科杂志

Myotonic dystrophy is a group of inherited myopathy characterized by typical clinical symptoms of myotonia and muscular weakness.Due to the great difference in individual clinical manifestations and severity of symptoms,it is often difficult to make early clinical diagnosis by clinicians.Therefore,standardized diagnostic awareness and pathway should be attached great importance.To some extent,combining the patient's extra muscular symptoms can help clinicians to reduce the rate of missed diagnosis.With the development of muscle biopsy and the improvement of gene technology,there is no problem with the diagnosis,through electromyography,pathology and gene examination.At present,symptomatic treatment and symptom management are still the main treatments in the world.

Chronic granulomatous inflammation of the tibial nerve: a case report / 中华神经科杂志

Granulomatous disorder is a group of chronic proliferative inflammatory diseases.Both infectious and noninfectious factors can lead to granuloma formation.Its diagnosis and treatment should be dependent on clinical manifestations and pathological results of patients.The existence of systematic diseases and immune system abnormalities is the key factor in determining final therapy in this condition.It is a rare clinical case of granulomatosis with simple invasion of one single peripheral nerve,which is challenging in daily clinical work.Here we present a case of granulomatous inflammation involving the right tibial nerve only,and analyze the difficulties and key points in the diagnosis and treatment of these patients with literature review.

Intracranial hypertension syndrome in systemic lupus erythematosus: clinical analysis and review of the literature / 华中科技大学学报（医学）（英德文版）

In order to better understand the clinical manifestation of systemic lupus erythematosus (SLE) with intracranial hypertension syndrome (IHS), we analyzed the clinical features and treatment of a typical SLE patient with IHS. SLE is one of the most unpredictable autoimmune diseases involving multiple organ systems that is defined clinically and associated with antibodies directed against cell nuclei. IHS is an uncommon manifestation of neuropsychiatric SLE (NPSLE) and is characterized by an elevated intracranial pressure, papilledema, and headache with occasional abducens nerve paresis, absence of a space-occupying lesion or ventricular enlargement, and normal cerebrospinal fluid chemical and hematological constituents. IHS has been reported in a few sporadic cases in patients with SLE worldwide, but rarely has been reported in China. In this study, a 34-year-old female SLE patient with IHS was reported and pertinent literature reviewed. The clinical presentation, image logical features, and investigatory findings were discussed.

Diagnosis of patients with Niemann-Pick disease type C and identification of 2 noval mutations in NPC1 gene / 中华神经科杂志

Objective To established a diagnostic methods to idenfity Niemann-Pick disease type C (NPC) in China. Methods Two patients aged 5 and 20 years respectively who presented progressive neurologic regression and splenomegaly were subjected to filipin staining of cultured skin fibroblasts and genetic analyses of NPC1 gene. Results Although there were differences in onset ages and clinical presentations, filipin staining of the cultured skin fibroblasts confirmed the clinical diagnosis of NPC, showing an intense punctate pattern of fluorescence concentrating around the nuclei, consistent with the accumulation of unesterified cholesterol in NPC cells. Genetic sequence analysis further verified the results of filipin staining. The case 1 was compound heterozygous for M1142T(3425T＞C),R1186H(3557T＞C)and case 2 for Q88H(264G＞T),469_470insGT.The latter 2 mutations were novel, and the possibility of polymorphisms was not supposed by analyzing 134 DNA samples obtained form normal controls. Conclusions Filipin stainning of the cultured skin fibroblasts is a reliable method to clinically diagnose NPC with a sensitivity. Genetic diagnose should be performed where genetic analysis is allowed.