Kayihan Uluc

Medial plantar and dorsal sural nerve conduction studies increase the sensitivity in the detection of neuropathy in diabetic patients

OBJECTIVE Clinical utility of nerve conduction studies (NCS) of the medial plantar and dorsal sural nerves in the early detection of polyneuropathy have already been shown separately. However, at present, there is no data about the combined assessment of these two nerves in distal sensory neuropathy. In the present study, we aimed to evaluate the medial plantar and dorsal sural NCS in a group of diabetic patients with distal sensory neuropathy (DSN) and in healthy controls. METHODS Thirty healthy and 30 diabetic adult patients were included. In all subjects, peripheral motor and sensory NCS were performed bilaterally with surface electrodes on the lower limbs including medial plantar and dorsal sural nerves. In addition, motor and sensory nerves were studied unilaterally on the upper limb. RESULTS In all patients, nerve action potential (NAP) amplitudes of sural and superficial peroneal nerves were within normal ranges, but in the patient group mean value was significantly lower than in the controls. Among clinically defined 30 DSN patients, medial plantar NAP amplitude was abnormal in 18 (60%) and dorsal sural nerve amplitude was abnormal in 13 (40%) of the patients bilaterally. Additionally, the onset NCV of the dorsal sural nerve was significantly slower in patients than controls (P=0.038). Evaluation of both of these nerves increased the sensitivity up to 70% in the detection of neuropathy. CONCLUSIONS Bilateral NCS assessment of both of the medial plantar and dorsal sural nerves together increases the rate of diagnosis of diabetic distal sensory neuropathy compared to assessment of either of these nerves. SIGNIFICANCE Assessment of medial plantar in addition to dorsal sural NCS together increases the sensitivity in the detection of neuropathy and allows earlier diagnosis, especially when routine NCS are normal.

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate : A genetically proven case with distinct MRI findings

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with autosomal recessive mode of inheritance. Lately, mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase, have been found as the underlying defect. We report a 19-year-old male patient with cerebellar, pyramidal and dorsal column dysfunctions and specific magnetic resonance imaging (MRI) and characteristic magnetic resonance spectroscopy (MRS) abnormalities. The patient was compound-heterozygous for two mutations in DARS2. MRI showed selective involvement of cerebral and cerebellar white matter and superior and inferior cerebellar peduncles, without contrast enhancement. The U-fibers were spared. The sensory and the pyramidal tracts were affected over their entire length. Involvement of the intraparenchymal trajectories of the trigeminal nerves and mesencephalic trigeminal tracts was demonstrated. In the spinal cord, signal abnormalities were identified in the dorsal columns and the lateral corticospinal tracts. Proton-MRS of the frontal and cerebellar white matter showed elevated lactate, reduced N-acetylaspartate, increased myoinositol and mildly elevated choline. In LBSL, distinct MRI findings should lead to the diagnosis, which can be confirmed by the analysis of the disease gene DARS2.

Conservative treatment for late-diagnosed spinal accessory nerve injury.

Akgun K, Aktas I, Uluc K: Conservative treatment for late-diagnosed spinal accessory nerve injury. Am J Phys Med Rehabil 2008;87:1015–1021. Objective:Spinal accessory nerve (SAN) injuries cause considerable shoulder joint dysfunction and pain, but are often underdiagnosed or diagnosed late. The aim of this study was to present the clinical and electrophysiological features and response to conservative treatment of the patients with late-diagnosed SAN injury. Design:Nine patients diagnosed with SAN injury based on clinical and electrophysiological examinations were evaluated. All patients were treated with a standard physical therapy and rehabilitation program and then received home exercise program. Shoulder pain during rest and activity and pain causing sleep disturbances were evaluated using a visual analog scale. Constant scale investigated shoulder function. Shoulder disability questionnaire evaluated daily living activities. Results were assessed before treatment, after one month of treatment, and years after treatment. Results:According to the electrophysiological studies, seven patients had partial and two patients had total axonal SAN injuries. The delay from the time of injury to diagnosis ranged between 12 and 84 mo (median 14 mo). When compared with the baseline values, visual analog scale, Constant scale, and shoulder disability questionnaire scores were significantly improved in all of the patients. Conclusions:For patients with late-diagnosed SAN injury, conservative treatment seems to be an effective treatment option.

Granulomatous Hypophysitis and Bilateral Optic Neuropathy

A 53-year-old woman with symptoms of hypopituitarism and ophthalmoplegia was diagnosed as having idiopathic granulomatous hypophysitis and later developed bilateral optic neuritis. She responded well to steroid treatment. Granulomatous hypophysitis is a rare entity, and this is the first reported case associated with optic neuritis.

Assessment of symptomatic diabetic patients with normal nerve conduction studies: utility of cutaneous silent periods and autonomic tests.

Established electrophysiological methods have limited clinical utility in the diagnosis of small‐fiber neuropathy (SFN). In this study, diabetic patients with clinically diagnosed SFN were evaluated with autonomic tests and cutaneous silent periods (CSPs). Thirty‐one diabetic patients with clinically suspected SFN and normal nerve conduction studies were compared with 30 controls. In the upper extremities (UE), the CSP parameters did not differ statistically between the patient and control groups, whereas, in the lower extremities (LE), patients had prolonged CSP latencies (P = 0.018) and shortened CSP durations (P < 0.001). The sensitivity of the CSP duration was 32.6%, and the specificity was 96.7%. The expiration‐to‐inspiration ratios and amplitudes of the sympathetic skin responses in the lower extremities were also reduced. Our findings indicate that the diagnostic utility of CSPs was higher than that of the autonomic tests to support the clinically suspected diagnosis of SFN. Muscle Nerve, 2011

The Relationship between Quiescent Inflammatory Bowel Disease and Peripheral Polyneuropathy

BACKGROUND/AIMS Inflammatory bowel disease is a chronic, recurrent disorder that involves multiple organ systems. Polyneuropathy is the most common neurological manifestation. The aim of the present study was to investigate the relationship between polyneuropathy and inflammatory bowel disease. METHODS The study included 40 patients with infl ammatory bowel disease (20 with ulcerative colitis and 20 with Crohns disease) and 24 healthy controls. The patients had no clinical signs or symptoms of polyneuropathy. Nerve conduction studies were performed using an electroneuromyography apparatus. RESULTS Mean distal motor latencies, conduction velocities, and F wave minimum latencies of the right median nerve were signifi cantly abnormal in the patient group, compared to the healthy controls (p<0.05). CONCLUSIONS Some electrophysiological alterations were observed in chronic inflammatory bowel disease patients who showed no clinical signs. While investigating extra-intestinal manifestations in inflammatory bowel disease patients, nerve conduction studies must be performed to identify electrophysiological changes and subclinical peripheral polyneuropathy, which can subsequently develop.

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

Charcot–Marie–Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A>C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum.

A neurophysiological approach to the complex organisation of the spine: F-wave duration and the cutaneous silent period in restless legs syndrome

OBJECTIVE It is generally accepted that F-wave duration (FWD) and the cutaneous silent period (CSP) are influenced by diminished central inhibition. The aim of this study was to diagnose patients of restless legs syndrome (RLS) with the help of FWD and/or CSP parameters. METHODS In all, 24 patients with primary RLS were compared with 31 age- and sex-matched controls. The participants were evaluated based on nerve conduction study (NCS), F-wave parameters (minimum, maximum and mean latency; chronodispersion, persistence and duration; and the ratio of the mean FWD to compound muscle action potential (CMAP) duration), CSP (latency, duration and the ratio of lower-extremity (LE) to upper-extremity (UE) duration that is, silent period ratio (SPR)), the expiration to inspiration ratio (E/I) and sympathetic skin response (SSR). RESULTS There were not any significant differences in NCS, E/I or SSR between the patients and controls. However, FWD was prolonged (P<0.0001 for UE and LE) and FWD/CMAP duration was increased in upper and lower extremities (P<0.001 for UE and P<0.0001 for LE). Further, CSP latencies in UE (P=0.030) and LE (P<0.001) were prolonged, and CSP duration and SPR were significantly reduced in the patient group (P<0.0001). CONCLUSIONS As both NCS and autonomic test results were in the normal range, abnormalities in FWD and CSP parameters were attributed to the dysfunction of different interneuron groups in the spine. SIGNIFICANCE The use of FWD and CSP could aid in the diagnosis of RLS patients in whom conventional electrophysiological procedures are ineffective.

Headache During Air Travel: An Unusual Cause of Reversible Cerebral Vasoconstriction Syndrome

Reversible cerebral vasoconstriction syndrome (RCVS) is a rare condition characterized by segmental and reversible narrowing of the cerebral arteries. High altitude has been reported as an extremely rare cause for this distinctive syndrome. Here, we report a case of RCVS and propose air travel as the triggering factor. A 51-year-old female patient experienced an intense thunderclap headache during air travel, which persisted through her entire trip. On the second day after landing back home, she presented with right hemiparesis accompanying the headache at a facility different from where the authors are located. Diffusion weighted magnetic resonance imaging (DWI) and cranial magnetic resonance angiography (MRA) had revealed a pattern of restriction on the left frontoparietal cortical region and segmental vasoconstrictions that were more predominant on the posterior circulation consecutively. A diagnosis of RCVS was considered. When the patient was discharged with verapamil therapy, she had normal neurological status. Two days later, she was hospitalized at our hospital with an attack of weakness of the left leg, which lasted for 10 min. The DWI showed no infarctions. However, segmental vasoconstrictions on bilateral posterior cerebral arteries, anterior cerebral arteries (ACAs), and middle cerebral arteries were observed on cranial MRA. Her therapy regimen was changed to nimodipine and dexamethasone. On the follow-up, her left-sided weakness and thunderclap headache attacks had recurred until the last attack, which persisted. No significant blood pressure changes were observed at that time. The DWI revealed acute infarctions on ACA territory and bilateral head of the caudate nuclei. MRA showed that the vasoconstrictions were more prominent on the mentioned arteries. Her therapy was switched to intravenous nimodipine and the dose was gradually increased up to 1.5 mg/hour and dexamethasone was stopped. Under this treatment, she developed no further symptoms or infarctions. When she was discharged 1 month after her first symptom on oral From the Department of Neurology, Marmara University Faculty of Medicine, Istanbul, Turkey (H. Alibas, S. Ceferova, P. Kahraman Koytak, K. Uluc, I. Midi, N. Tuncer Elmaci, S. Aktan, and T. Tanridag).

A Case Report of CLIPPERS (Chronic Lymphocytic Inflammation with Pontocerebellar Perivascular Enhancement Responsive to Steroids) Syndrome

CLIPPERS has been identified yet, and a body of increasing evidence show that this disorder overlaps with other syndromes [4, 5]. Although the exact pathophysiological mechanism of this syndrome has not been fully elucidated, neuropathological findings and the clinical response to immunosuppressant agents, especially steroids, suggest an autoimmune or other inflammation mediated pathogenesis [1]. Herein, we present a new case with the clinical and radiological findings consistent with CLIPPERS syndrome.