Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers-Danlos Syndrome Type IV.

Ehlers-Danlos syndrome (EDS) type IV is characterized by thin skin with visible veins, easy bruising, characteristic facial features, arterial and digestive complications, as well as rupture of the gravid uterus. It has never been previously reported that trigeminal autonomic cephalalgias (TACs) could manifest as the only initial symptom of EDS type IV. Here, we report a case of a 27-year-old man who presented atypical headache like TACs stimulated by right internal carotid artery dissection. About one month after his discharge, he suffered dissection of the right renal artery and splenic artery, in addition to partial infarction of the right kidney and spleen. Genetic testing revealed a novel splicing variant c.799-1G>A within COL3A1. He was ultimately diagnosed with Ehlers-Danlos syndrome type IV. This case expanded the genetic spectrum and clinical manifestation of EDS type IV and provided a significant implication for the diagnosis of EDS type IV when the initial symptom manifested as TACs, not the typical presentation of EDS type IV.

[Clinical survey on neuropathic pain in neurological outpatient department].

OBJECTIVE: To survey the features and its impact of neuropathic pain in neurological outpatients. METHODS: A total of 106 patients with neuropathic pain were selected from Neurology Clinic of the Second Affiliated Hospital of Zhejiang University. General status instrument, SF-36 Quality of Life Scale and Hamilton Anxiety Scale (HAMA) were used in the survey. RESULTS: Trigeminal neuralgia (23.6%), nerve root pain (21.7%), and post-herpetic neuralgia (13.2%) were the most common causes of neuropathic pain. The sequence of impairments in life quality of the patients was role-physical (21.2), bodily pain (39.9), role-emotional (41.2), general health (50.0), physical functioning (55.1), vitality (60.0), mental health (68.5), and social functioning (70.9). Pearson correlation coefficients were statistically significant between bodily pain and other dimensions of life quality (P<0.05). Western medication (45.3%) was the most common treatment adopted by physicians. CONCLUSION: The prevalence of neuropathic pain is common in elderly patients. The three major types of neuropathic pain seriously affect the quality of life in patients. Although western medicine is the first choice of treatment, clinical drug selection should be standardized with efforts of both doctors and patients.

A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family.

PURPOSE: Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous disease. Thus far, the disease gene has been identified as the FERM domain containing 7 (FRMD7) gene. The purpose of this study was to elucidate the clinical and genetic characteristics of a four- generation Chinese family with ICN. METHODS: The clinical data and the genomic DNA of a Chinese ICN family were collected following the provision of informed consent. All coding exons of the FRMD7 gene were amplified by PCR and then sequenced. Affinity GST-p21 activated kinase 2 (PAK2) precipitation was used to investigate whether this novel FRMD7 mutant influenced Rac1 signaling activation in the human embryonic kidney 293 T cells (HEK 293T) cells transiently cotransfected with wild-type or mutant FRMD7 and Rac1. RESULTS: A novel missense mutation (c.635T>C) was identified in all affected members. Obligate female carriers were heterozygous in these mutations and the affected males were homozygous, consistent with X-linked inheritance. This mutation is a substitution of proline for leucine. Function analysis showed that this novel mutant influences Rac1 signaling in human HEK 293T cells. CONCLUSIONS: This study widens the mutation spectrum of the FRMD7 gene. This mutant was shown to activate GTPase Rac1 signaling in vitro; however, the quantity of activated Rac1 was obviously decreased compared with the wild type (p<0.05). Taken together, our data strongly support the hypothesis that the identified FRMD7 mutant influences GTPase Rac1 signaling, which regulates neurite development. This mutation may be related to the pathogenesis of X-linked ICN.

[A study of microPET for assessing regional cerebral glucose metabolism and the expression of dopamine receptor type 2 in a rat model of Parkinson's disease].

OBJECTIVE: To employ (18)F-fluoro-2-deoxyglucose ((18)F-FDG) and (3-N-[(11)C] methylspiperone)(11)C-NMSP microPET to assess the changes of regional cerebral glucose metabolism and the expression of dopamine receptor type 2 (DRD(2)) in a rat model of Parkinson's disease (PD). METHODS: A hemiparkinsonian model was established in rats by unilateral pretreatment with 6-hydroxydopamine (6-OHDA). At 2 weeks after 6-OHDA insult, (18)F-FDG and (11)C-NMSP microPET scan were performed to compare the differences of regional cerebral glucose metabolism and the expression of DRD(2) between the PD and control groups respectively. The immunohistochemical staining was used to detect the expression of tyrosine hydroxylase in two groups. RESULTS: In the PD model, the glucose metabolism rates were 88.2% ± 2.2%, 94.5% ± 4.5% and 96.2% ± 5.8% respectively, in right striatum, hippocampus and sensorimotor cortex. And they were significantly lower than those in the control group [92.7% ± 2.8% (P < 0.01), 98.9% ± 3.9% (P < 0.01) & 102.8% ± 2.1% (P < 0.01)]. The expression of DRD(2) in right striatum was significantly higher in the PD group than that in the control group (112.9% ± 9.0% vs 102.3% ± 1.4%, P < 0.01). CONCLUSION: In the PD rats, glucose metabolism decreases in injured side striatum, hippocampus and sensorimotor cortex while and the expression of DRD(2) increases in injured side striatum.(18)F-FDG and (11)C-NMSP microPET can effectively assess the regional cerebral glucose metabolism and the expression of DRD(2) in PD. They may serve as effective molecular imaging tools for an early diagnosis of PD.

Clinical features and Cu/Zn superoxide dismutase gene mutations in two mainland Chinese families with amyotrophic lateral sclerosis.

Clinical information of two families with amyotrophic lateral sclerosis (ALS) was studied and a mutation analysis of the SOD1 gene was performed using direct DNA sequencing. Two previously reported mutations of the SOD1 gene, G20T (Cys6Phe substitution), and G255C (Leu84Phe substitution), were identified and cosegregated with the disease in the two families. Patients with a Cys6Phe mutation demonstrated rapid disease progression with severe clinical phenotypes, and the patients with a Leu84Phe mutation had a variety of different clinical phenotypes. This is the third report of SOD1 gene mutations in Mainland Chinese patients with different ALS phenotypes. This supports the hypothesis that the clinical course of ALS may vary depending on the specific genetic mutation.

Central pontine myelinolysis in a patient with epilepsia partialis continua and hyperglycaemic hyperosmolar state.

Central pontine myelinolysis (CPM) is a demyelinating disorder, which is associated most commonly with the rapid correction of hyponatraemia and other abrupt changes in physiological osmotic conditions. This includes the treatment of hyperosmolar hyperglycaemia in diabetes mellitus (DM) sufferers. Herein, we report a case of CPM in a 55-y-old patient with new-onset DM who presented with partial focal seizures and a sudden-onset right-sided hemiplegia. Magnetic resonance imaging revealed a lesion in the central pons. The patient responded to glucose control and antiepileptic medication, and achieved a recovery of limb function within 17 d of admission. CPM occurred in this patient before the correction of hyperglycaemic hyperosmolar state, and a disturbance in his initial electrolytes was not found. This report is the first documented case of long-term hyperglycaemic hyperosmolar state leading to CPM, and highlights that CPM can present as an isolated hemiplegia.

Neurosyphilis manifesting as lightning pain.

The large scale use of antibiotics in recent years has changed the face of neurosyphilis, as it has been accompanied by a drop in incidence and frequent replacement of typical forms of presentation with atypical or masked forms. Herein, we describe three patients who presented initially with intermittent stabbing, or lightning-like pains in the extremities that lasted for several years, who were subsequently diagnosed as having neurosyphilis during a clinical evaluation. The clinical symptoms underlying neurosyphilis are complex, rendering diagnosis and treatment difficult. Therefore clinicians must learn to recognize these symptoms to improve patient outcomes.

[Study of brainstem auditory evoked potentials and its correlation with pontine volume in olivopontocerebellar atrophy].

AIM: To investigate the change of latency and interpeak latency of each component of BAEP (brainstem auditory evoked potential, BAEP) and its correlation with PV/PFV (pontine volume/posterior fossa volume, PV/PFV) ratio in OPCA (olivopontocerebellar atrophy, OPCA). METHODS: We used Keypoint EMG/EP to determine waves I PL (peak latency, PL), III PL, V PL and I - III IPL (interpeak latency, IPL), III - V IPL, I - V IPL and used 1.5TMR 3D volume rendering software to determine PV (pontine volume, PV), CV(cerebellar volume, CV) and PFV (posterior fossa volume,PFV). Then calculated PV/PFV ratio, CV/PFV ratio and PV/ CV ratio in OPCA group and control group. RESULTS: Compared with control group, in OPCA group wave IIII PL, I - III IPL were significantly elongated (P < 0.05), III - V IPL was significantly shorten (P < 0.05), PV/PFV ratio was significantly decreased (P < 0.01); there was a positive correlation between III-V IPL and PV/PFV ratio (r = 0.83, P < 0.01). CONCLUSION: In patients with OPCA, III PL, I - III IPL of BAEP were elongated and III - V IPL of BAEP was shorten. III - V IPL became shorter when the volume of pontine decreased.