Saadet Sayan

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.

Levels of brain natriuretic peptide as a marker for the diagnosis and prognosis of acute ischemic stroke

Introduction The relationships between plasma levels of brain natriuretic peptide (BNP) and severity and location of stroke, prognosis, and infarct volume were investigated in acute ischemic stroke patients who presented within the first 24 hours (h) of stroke. Material and methods Brain natriuretic peptide levels were tested in 40 patients and 30 healthy controls. Infarct volume was automatically calculated by multi-slice computed tomography. Disease severity was assessed using the National Institutes of Health Stroke Scale (NIHSS) at presentation, 24 h, 72 h and the 28th day. Progression was defined as an increase of more than two points in the NIHSS scores. Results The mean BNP levels were 284.16 ±382.79 at presentation and 273.78 ±451.91 at 72 h in the patient group, whereas the mean BNP level was 25.29 ±13.47 in controls. There was a statistically significant difference between the two groups (p < 0.001). Differences in BNP levels among patient subgroups according to the TOAST and OCSP classifications were not statistically significant (p = 0.534, p = 0.943, respectively). There was no significant correlation between plasma BNP level and infarct volume or NIHSS scores (p = 0.5, p = 0.07). A positive correlation was found between BNP levels and the length of the hospitalization period (p = 0.03 and r = 0.33). There was no statistically significant relationship between elevated plasma BNP levels and progression of disease (p = 0.08). Conclusions Plasma BNP levels were increased in the acute phase of stroke; therefore, BNP could be used as a biomarker for morbidity and mortality, even in patients without cardiac failure.

A rare neurologic deficiency in HaNDL syndrome: cranial neuropathy

Corresponding author: Dilcan Kotan Neurology Department Ataturk University Medical Faculty 25050 Erzurum, Turkey Phone: 48 82 143 030 E-mail: dilcankotan@ yahoo.com 1Neurology Department, Ataturk University Medical Faculty, Erzurum, Turkey 2 Department of Neurology, SB Sakarya University Research and Training Hospital, Sakarya, Turkey 3 Department of Neurology, Sakarya University Faculty of Medicine, Sakarya, Turkey

Cerebral fat embolism diagnosed by cognitive disorder.

Fat embolism syndrome is a rarely seen complication of skeletal trauma, and it is seen at a rate of 2-5% after fractures of the long bones of the lower extremities. Its classic triad-+consists of hypoxemia, petechial bleedings on the skin and neurological findings. These neurological findings are highly variable and non-specific, and they can present with lethargy, irritability, delirium, stupor, convulsion or coma. In this report, a male case is presented who was diagnosed with cerebral embolism due to acute cognitive disorder after a segmental tibial fracture.

Bilateral vertebral artery stenosis present with vertigo

Of ischaemic stroke patients, about 25% rise from the posterior or vertebrobasilar system. The ischaemia of vertebral arteries may emerge for different vascular pathological reasons, at different localisations and with different clinical findings. Despite its low morbidity and mortality risk, early diagnosis and treatment is of importance. Vertebrobasilar ischaemia symptoms can be observed clinically such as vertigo, tinnitus, double vision, headache, hypokinesis and hearing disorders, etc. In this article, a 42-year-old stroke patient case is presented, who applied to the emergency service with vertigo and then, was diagnosed with bilateral vertebral artery stenosis by means of cranial MR angiography.