Refah Sayin

Clinical features and prognosis with Guillain-Barré syndrome

Background: Guillain-Barré syndrome (GBS) is an acute inflammatory polyneuropathy commonly characterized by rapidly progressive, symmetric weakness and areflexia. Materials and Methods: We retrospectively assessed the clinical manifestations, results of electrodiagnostic tests, functional status and prognosis of 36 children diagnosed with GBS. Results: Based on clinical and electrophysiological findings, the patients were classified as having acute inflammatory demyelinating polyradiculoneuropathy (AIDP) (n = 25), acute motor axonal neuropathy (AMAN) (n = 10) and acute motor-sensory axonal neuropathy (AMSAN) (n = 1). Twenty (55.5%) patients were males and 16 (44.5%) patients were females. The mean age of the 36 patients was 68.1 ± 45.01 months (range, 6–180 months). Five (13.8%) patients were younger than 2 years. The most common initial symptoms were limb weakness, which was documented in 34 (94.4%) patients. In our study, 18 patients (51.4%) showed albuminocytological dissociation (raised protein concentration without pleocytosis) on cerebrospinal fluid (CSF) examination. Three patients (8.3%) required mechanical ventilation therapy during hospitalization. Unfortunately, three (8.3%) patients died; one patient had AIDP and two patients had axonal involvement (one case was AMAN and another case was AMSAN). When we compared the cases of residual sequel/dead and cases of complete recovery for neural involvement type including AIDP, AMAN and AMSAN, we did not find a statistically significant difference between the groups (P > 0.05). Conclusion: Our findings showed that cases of GBS was not uncommon in children younger than 2 years of age, and CSF protein level might be found high in the first week of the disease in about one half of the patients, with a higher rate of morbidity and mortality in patients with axonal involvement than in those with AIDP.

Sneddon syndrome associated with Protein S deficiency

Sneddon syndrome (SS) is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.

Polyneuropathy Due to Cyclosporine A in Patients with Renal Transplantation: A Case Report

Abstract Background: Calcineurin inhibitor cyclosporine A (CsA) is a potent immunosuppressive agent. The side effects of CsA include nephrotoxicity, hypertension, hypertrichosis, infection, hyperpotassemia, and, to a lower extent, neuropathy. Objectives: In this case report, we aimed to present a renal transplant patient with polyneuropathy (PNP) due to the use of CsA and with improvement when switched to rapamycin. Methods: In electromyography, axonal sensory PNP was detected. CsA was stopped and rapamycin was begun. Results: His complaints rapidly improved after using rapamycin. Conclusions: Patients using CsA should be closely monitored for peripheral neuropathy and in case of toxicity, alternative immunosuppressive agents should be considered.

Use of pyridoxine and pyridostigmine in children with vincristine-induced neuropathy.

Four children with vincristine (VCR)-induced neuropathy are being reported. All cases were followed with the diagnosis of acute lymphoblastic leukemia. Two were boys aged between 2 and 13 year. Electromyographic examination consisted of sensoriomotor polyneuropathy with axonal involvement in three patients. In another patient, it consisted of motor axonal polyneuropathy. In all patients, pyridoxine and pyridostigmine were successfully used in the treatment of VCR-induced neuropathy. They recovered completely with this drug combination. Recovering period of symptoms was between 1–2 week.

Bilateral brachial plexus palsy and right Horner syndrome due to congenital cervicothoracal syringomyelia.

Syringomyelia (SM) is a disorder in which a cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the cord. Horner syndrome is an infrequent illness caused by a lesion of the cervical sympathetic nerve fiber. Its clinical features are facial anhidrosis, ptosis, miosis, and hypochromia iridis of the affected side. A full-term male newborn infant was admitted with weakness in bilateral upper extremities and narrowing of the palpebral fissure on the right side. Ophthalmologic examination revealed a smaller right pupil. Muscle power in bilateral upper limbs was 1/5. Chest X-ray and cranial magnetic resonance imaging were normal. Magnetic resonance imaging of the cervicothoracic spine showed SM at C4-T2 level. Electromyographic examination revealed bilateral brachial plexus palsy. The diagnosis was of brachial plexus palsy and congenital Horner syndrome due to congenital cervicothoracic SM. According to our best knowledge, this association has not been reported in the literature.

A database for screening and registering late onset Pompe disease in Turkey

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.

Hot Water Epilepsy in a Pregnant Woman: A Case Report

Hot water epilepsy is a unique form of reflex epilepsy precipitated by the stimulus of bathing with hot water poured over the head. It is mostly seen in infants and children, with a predominance in males. Unlikely, we present a 32-year-old pregnancy woman with the incipient of reflex seizures triggered by pouring hot water over the head while having a bath during the gestation period and treated successfully with carbamazepine 400 mg/day therapy. Hot water epilepsy is known as a benign and self-limited reflex epilepsy, by firstly avoiding hot water or long showers and secondly using intermittent benzodiazepines or conventional antiepileptic drugs, may be sufficient to be seizure-free.

P225 Cases developing motor neuron symptoms after cadmium intoxication

Purpose: the aim of this study was to compare the electromyographic pattern in Becker muscular dystrophy (BMD) with that found in Duchenne muscular dystrophy (DMD). Material and method: fourteen men with BMD and 51 boys with DMD were investigated. Proximal muscles were examined: m. biceps brachii (BB) and m. rectus femoris (RF). They were divided according to the clinical criteria in two groups: of those with slight changes (group AB) and of those with severe abnormalities (CD). Our own method of Functional-QEMG was applied in the CNEMG examination. Results: spontaneous activity (fibrillations, complex repetitive discharges) was equally frequent in BMD and DMD. Linked potentials were rather frequent in either group. Myopathic features such as MUAPs low amplitude and area, polyphasic shape were seen in either condition, but more marked in DMD than in BMD (p< 0,05). Evaluation of IP recordings revealed that IP amplitude (amplitude size) is low in DMD already at the early stage of lesion but normal or only slightly diminished in BMD. Conclusion: our results might perhaps suggest different degrees of lesion in type II MUs between the compared types of muscular dystrophy.