Electroneuromyographic Features in Fabry Disease: A Retrospective Review.

INTRODUCTION: Fabry disease (FD) is an X-linked recessive inherited disorder characterized by lysosomal alpha-galactosidase deficiency. The purpose of our study was to assess and compare the electroneuromyographic (ENMG) findings of 15 patients with Fabry disease and the electroneurographic (ENG) findings of 15 healthy controls. We have not encountered any similar study in the medical literature of our country. Therefore, we believe that our study will contribute to national literature. METHODS: Fifteen patients with Fabry disease, 13 females and 2 males and 15 healthy controls, 13 females and 2 males, were included in the study. The definite diagnosis of patients with Fabry disease was made based on the enzyme level and genetic mutation. The patients with Fabry disease were examined with ENMG, while the healthy control group was examined with ENG. In the patients with a normal ENMG examination, neuropathic pain was attributed to the small fiber involvement. RESULTS: Patients with Fabry disease had neuropathic pain (LANSS score≥12). While neurological examination was normal in eight patients, glove- and stocking-type hypoesthesia and decreased deep tendon reflexes were observed in five and two patients, respectively. Axonal polyneuropathy was detected in one patient. The ENMG examinations of the other patients were normal. Enzyme replacement therapy could not be initiated in one patient because of pregnancy. The neurological examination of the healthy control group was normal. There was no statistically significant difference between the ENMG features of both groups (p>.05). As in other studies, a routine ENMG examination was normal in our patients with early-stage Fabry disease. Neuropathic pain, seen in patients with Fabry disease in literature, is thought to be due to small fiber involvement. CONCLUSION: Fabry disease should be considered in the differential diagnosis of patients with neuropathic pain at young ages. It should be kept in mind that ENMG examination can be normal at the early stages. Quantitative sensory test, autonomic tests (R-R interval and sympathetic skin response) and skin biopsy should be performed in such cases. In our country, pediatric physicians work on Fabry disease more than physicians dealing with Fabry disease in adults. Therefore, in this retrospective study, we aimed to draw adult and pediatric neurologists' attention to Fabry disease.

Neurological Complications after Renal Transplantation: A Retrospective Clinical Study.

INTRODUCTION: The aim of this study was to evaluate the incidence and types of neurological complications (NCs) and associated factors in renal transplantation (RT) patients. METHODS: Three hundred and forty-four patients who had RT performed at our institution between January 2005 and July 2014 were retrospectively evaluated. RESULTS: File records of the patients revealed 19 who experienced a total of 22 episodes of NCs, of whom three had more than one episode. The mean age of 19 patients included in the study, of whom eight were female, was 37.52±13.08 (range, 18-65) years. NCs were classified into central or peripheral depending on the location of involvement of the central nervous system (CNS). CNS involvement was found in 16 (84.2%) of the 19 patients. Tremor (36.8%) was the most common CNS complication in these patients. Encephalopathy, generalized tonic-clonic seizures, and status epilepticus were observed in two patients (10.5%). Delirium and dementia were observed in one patient (5.2%). Headache was experienced by one patient, and agitated depression was observed in one patient. Six patients (26.3%) had the peripheral nervous system involvement. One patient had the numbness of hands with normal electromyography findings, and four patients had polyneuropathy. In one patient, lumbar plexopathy was observed. Seventeen of the 22 NCs were considered to be caused by immunosuppressive agents. Each incidence of amyloidosis, infection, septic emboli, and hypoglycemia caused a neurological episode. The etiology of one episode was unknown. CONCLUSION: Different neurological disorders can be seen after RT, and most of them are caused by immunosuppressive drugs. NCs seen after RT can be treated by decreasing the dose or changing the immunosuppressive drug.

Phenobarbital-induced pellagra resulted in death.

Pellagra is caused by deficiency of niacin or its precursor tryptophan. While cutaneous lesions are the most prominent feature of the disease, gastrointestinal, neurological and psychiatric signs and symptoms are the other characteristics of the disease. In this case report, we present a 29-year-old female patient with discoloration of hands and feet diagnosed with pellagra.

Visual evoked potentials in differential diagnosis of multiple sclerosis and neurobehcet's disease.

Behcet's disease, a multisystemic vascular inflammatory disorder of unknown origin, is relatively rare and central nervous system involvement is seen in 5% of affected individuals. This form of the disease, called as neurobehcet's disease (NB), can be misdiagnosed as multiple sclerosis (MS), a demyelinating disorder of central nervous system, so their differential diagnosis is important. In this study, to identify the parameters of electrophysiological testing that might be useful in their differential diagnosis, we performed evoked potentials (EPs) and electroneuromyography (ENMG) on patients with MS and NB, and on normal volunteers. A total of 95 persons, 55 MS patients, 20 NB patients and 20 normal volunteers between ages 31 and 55, were studied electrophysiologically. Visual evoked potential (VEP), brainstem auditory evoked potential (BAEP), posterior tibial somatosensory evoked potential (SEP) and nerve conduction and needle electromyography studies were performed on all patients and volunteers. All parameters of EPs were compared among the groups. The results of the BAEP and SEP studies did not show statistically significant difference between NB and MS. However, the VEP study indicated that the amplitude values of cortical VEP potentials (P100) in the NB and MS groups were lower than those of the normal group (p < 0.01), and that the amplitudes in the NB group were lower than for the MS group (p < 0.05). Therefore, P100 amplitude measured from peak to peak seems to be more reliable and thus should be used in the differential diagnosis of MS and NB.

Axillary neuropathy mimicking quadrilateral space syndrome and its follow up for one year.

Axillary neuropathy due to entrapment of the nerve in the quadrilateral space is seen rarely. Here, we describe a 24-year-old patient diagnosed with isolated axillary neuropathy that mimicked quadrilateral space syndrome. Quadrilateral or quadrangular space syndrome (QSS), first described by Cahill and Palmer in 1983, was defined as the entrapment of the distal branch of the axillary nerve and the posterior humeral circumflex artery (PHCA) in the quadrangular shaped anatomic space. We tracked the follow up of the patient for one year both clinically and electrophysiologically. Our aim in reporting this case is to stress the point that cases of such a nature usually represent situations of diagnostic and treatment challenges, where multidisciplinary approaches are required.

Isolated lesion of the cervical spine in a case of neuro-Behcet.

Behcet`s disease is characterized by small vessel vasculitis and involvement of multiple systems. In neuro-Behcet cases, spinal cord involvement is approximately 10-18%. Spinal cord lesions are often associated with cerebral or brainstem lesions, and isolated spinal cord involvement in Behcet`s disease is very rare. Here, we report a case with an isolated lesion of the cervical spine.

Effects of high stimulus frequencies on SEPs of patients with neuro-Behcet's Disease.

BACKGROUND: Behcet's disease is a multisystemic vascular inflammatory disorder of unknownorigin. It is relatively rare and central nervous system involvement is seen in 5% of affected individuals. Somatosensory evoked potentials (SEPs) can provide information that shows the presence of clinically unsuspected lesions in the central nervous system of these patients. However, the effects of changing the stimulus frequencies on latencies of SEP potentials and central conduction time (CCT) in patients with neuro-Behcet's disease (NB) have not been studied yet. In this study, our aim was to reveal these effects to investigate whether the change of stimulus frequencies could be of convenient use in obtaining more accurate CCT estimations in SEP studies of these patients. METHODS: We performed median nerve SEPs of 14 patients with NB and 15 healthy volunteers. We changed the stimulus frequency: 2 Hz, 4Hz, 6Hz and 9Hz in successive recordings and statistically compared the changes on SEP potentials and peak and onset CCT in the neuro-Behcet (NB) group and the normal group. RESULTS: Our results indicated that the onset CCT values of the NB group were higher than the normal group at 4Hz and 9Hz stimulations. However, the comparison of peak CCT in the NB group and the normal group did not show any statistically meaningful differences at all stimulation frequencies. CONCLUSION: Onset CCT has not been measured before in former SEP studies of patients with NB. We highly recommend measuring onset CCT at higher stimulation frequencies in order to reveal central conduction time pathologies in these patients.

Correlation of clinical, MRI and Tc-99m HMPAO SPECT findings in neuro-Behçet's disease.

UNLABELLED: Behçet's disease (BD) is a systemic disorder of unknown cause. In our study, we investigated the utility of Tc-99m HMPAO SPECT and MRI in patients with neuro-Beh,cet's disease (n-BD). PATIENTS AND METHODS: Twelve patients (two females, ten males; mean age 33 +/- 9.6 yr; age range 18-45 yr) with n-BD, fulfilling the criteria of the International Study Group for BD, were included in the study. MRI was performed according to a standard protocol with 1 or 1.5 T imagers. Brain SPECT data were obtained using a single head gamma camera after 555 MBq Tc-99m HMPAO injections. Following image reconstruction, regional cerebral perfusion was evaluated both visually and semi quantitatively. RESULTS: Neurological examination showed parenchymal brain involvement in 6 of 12 patients (50%). All 6 patients had white matter lesions on MRI, while only 5 of them showed perfusion defects on brain SPECT. Out of 6 patients (50%) without clinical signs of parenchymal brain involvement, 1 patient showed a pathological brain SPECT and 3 patients showed pathological MRI findings. Semiquantitative analysis of brain regions on SPECT study showed statistically significant hypoperfusion of biparietal regions. CONCLUSION: This study investigates the correlation between clinical, MRI and SPECT findings and it shows discrepancy between these findings in some cases. Brain SPECT may act as a complementary modality to increase the detection rate of affected regions in patients with n-BD.

Prosthetic treatment of a patient with facioscapulohumeral muscular dystrophy: a clinical report.

Facioscapulohumeral muscular dystrophy syndrome (FSHD) is a rare hereditary myopathy characterized by muscle atrophy and weakness, particularly in the face and upper arms. Patients may also exhibit dental malocclusions. This article presents the prosthodontic treatment for an 18-year old male with FSHD.