The Frequency of Fabry Disease in Acute Stroke Patients with Renal Insufficiency in Sakarya Province

Aim: This study aimed to investigate the frequency, clinical and genetic characteristics, and therapeutic options associated with Fabry disease (FD) in individuals with acute stroke and concomitant renal insufficiency. Material and Methods: An FD screening was performed on adult patients with renal dysfunction who were admitted to the neurology clinic due to acute stroke between 2015 and 2021. Screening was performed by a leukocyte α-galactosidase A (α-Gal A) enzyme activity assay using dried blood spot (DBS) samples from male patients. In cases where the enzyme activity was less than 2.5 nmol/ml/h, genetic analysis was performed. Female patients underwent direct genetic analysis. Results: Renal dysfunction was detected in 39 ischemic stroke patients and 5 hemorrhagic stroke patients out of a total of 401 cases. The enzyme level was found low in only one of the male patients. The c.680G>A (p.R227Q) mutation was observed in this male patient and a female patient. In the later stages of the study, it was realized with the help of pedigree analysis that these two cases were first-degree relatives. The same mutation was also detected in 13 first-degree and 2 second-degree relatives. The frequency of FD in our study group, which included patients with cerebral and renal involvement regardless of consanguinity, was 4.54%. Conclusion: Rapid detection of FD cases can be achieved by screening individuals presenting with multiple end-organ damages. To the best of our knowledge, this study highlights the underemphasized association between renal involvement and stroke in FD

Clinical significance and prognostic value of serum autoantibody tests in multiple sclerosis

Introduction. It is known that multiple sclerosis (MS) often coexists with other autoimmune diseases. Hence, autoantibody (auto-Ab) tests may prove useful in the differential diagnosis of MS. The objectives of this study were to: (a) investigate the prevalence of auto-Ab positivity at the beginning of the MS diagnostic process; (b) assess whether Auto-Ab+ and Auto-Ab- patients differ in baseline clinical, laboratory, and radiological parameters; and (c) investigate the prognostic value during a two-year follow-up period. Material and methods. This retrospective study consisted of 450 patients aged between 18 and 55 years. All patients underwent a wide range of auto-Ab tests, anti-nuclear antibody (ANA) tests in particular. The expanded disability status scale (EDSS) scores of the patients were recorded at the time of diagnosis and at the end of a two-year follow-up period. Results. The mean age of the 212 patients, 148 (69.8%) female and 64 (30.2%) male, included in the study sample was 37 ± 10.83 years. The rate of relapsing cases was 84% (178). Oligoclonal band (OCB) was positive in 142 (86.6%) of the 164 tested cases. At least one of the auto-Ab tests was positive in 51 (24.1%) of the cases. ANA test was positive in 21 (9.9%) cases. There was no significant difference between patients with at least one positive auto-Ab test and without any positive auto-Ab test and between ANA-positive and ANA-negative patients in terms of age, gender, clinical features of MS, presence of brain stem lesion, presence of spinal lesion, OCB positivity, level of clinical improvement after the first pulse steroid treatment, family history, presence of comorbidity, presence of autoimmune disease, or EDSS scores recorded at the end of the two-year follow-up period (p > 0.05). Conclusions. Our study findings revealed that Auto-Ab positivity was more common in MS patients than in the general population. However, given their limited contribution to the diagnosis and differential diagnosis of MS with no effect on the prognostic process, auto-Ab tests should be requested only in the event of accompanying autoimmune disease symptoms, and in cases where the diagnosis of MS may be suspected

Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey

Conclusion: Hereditary ataxias are rare neurodegenerative disorders. Large genetic pool, ethnic and local differences complicate diagnosing even further. Our study contributes to the literature by reflecting phenotypic and genotypic characteristics of hereditary SCA patients in our region and reporting rare hereditary ataxia genotypes

Fahr Sendromlu Bir Olguda Beyin Sapı Tutulumu

In cases of Fahr’s syndrome, calcium and other minerals are stored bilaterally, and almost always symmetrically. These minerals are typically stored in the basal ganglia, thalamus, centrum semioval, cerebellar dentate nucleus, and periventricular white matter. Here, we present a rare case of Fahr’s syndrome in a female patient with unusual calcifications in the central pons

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

A spontaneous ruptured intracranial dermoid cyst in an older patient

Dermoid cysts are rare cystic tumors originating from ectodermic cells within the intracranial region. These cysts emerge during closure of the neural tube during embryological development. The symptoms are generally incidental and nonspecific. If rupture occurs, the cyst contents propagate through the subarachnoid space and the ventricular system. The dramatic appearance of subarachnoid and cisternal fat droplets facilitates the diagnosis of dermoid cyst rupture by computer tomography and magnetic resonance imaging. Herein, we present a case of ruptured dermoid cyst in an elderly patient. The patient presented with minor symptoms such as nonspecific headache and dizziness; dermoid cyst rupture was diagnosed by observing the fat droplets disseminate into the subarachnoid and cisternal spaces that extend from the left cerebellopontine angle, adjacent to the left carotid channel, to the cavernous sinus, using computer tomography and magnetic resonance imaging

The Value of Fibrinogen/Albumin Ratio on Prognosis of COVID-19 Patients

Aim: Fibrinogen and albumin are proteins that play a role in inflammation. In this study, it was aimed to investigate the role of fibrinogen, albumin, and fibrinogen/albumin ratio (FAR) levels as markers of disease severity and prognosis in coronavirus disease 2019 (COVID-19) patients. Material and Methods: Seventy-one patients aged between 19 and 84 years diagnosed with COVID-19 who were hospitalized in Sakarya University Training and Research Hospital, Neurology Department between March and May 2020 were analyzed retrospectively. Fibrinogen, albumin, FAR, D-dimer, platelet, and C-reactive protein (CRP) levels of the patients were compared according to the length of hospitalization duration, survival, and clinical severity of COVID-19. Results: Twenty-eight (%39.4) of the patients were male and 43 (%60.6) were female, and the mean age was 55.7±20.7 years. There was a significant difference between the groups of COVID-19 clinical severity in terms of age, fibrinogen, albumin, FAR, D-dimer, and CRP values (all p values were <0.001). Also, significantly higher fibrinogen, FAR, D-dimer, and CRP values were found in patients hospitalized longer, while the albumin level was lower in these patients (all p values were <0.001). FAR values were higher and albumin values were lower in non-surviving patients compared to surviving patients (p=0.025 and p<0.001, respectively). Conclusion: FAR levels may be useful in predicting mortality risk in COVID-19 patients. In addition, it may be helpful and useful in determining the prognosis since it has higher levels as the severity of the disease and the length of hospital stay increase

Acute Renal Failure Requiring Renal Replacement Therapy Due to McArdle Disease

McArdle Disease (Glycogen Storage Disorder Type V) is one of the most common inherited genetic alterations known to increase the risk of rhabdomyolysis. It is characterized by glycogen phosphorilase deficiency and is generally inherited autosomal recessively. Altough most of the inherited disorders of enzyme defects in glycogen storage present in childhood, McArdle disease has separate adult-onset forms and the age of onset of the symptoms depends on enzyme activity levels. It mainly presents with progressive muscle weakness and cramps after an exercise and becomes symptomatic in the 2nd or 3rd decades of life. Rhabdomyolysis after intense exercise has been reported. Here we report a 32-year-old male who presented to the emergency room with paralysis, severe bodily pain and hematuria after intense exercise. He was diagnosed with acute renal failure due to rhabdomyolysis. Hemodialysis was finally required despite all other approaches. Muscle biopsy revealed intermyofibrillary and subsarcolemmal glycogen deposits, a marker of Glycogen Storage Disorder Type V (McArdle Disease). The renal transplantation neccessity disappeared as the function tests returned to normal values during follow up. To conclude, we would like to emphasize McArdle disease as a rare cause of acute renal failure due to rhabdomyolysis