Search

The prevalence of chronic polyneuropathy will increase due to the aging population, and therefore, it becomes ever so important to optimize the diagnostic process. However, it is uncertain which blood tests are required and when nerve conduction studies (NCS) should be done in the workup of chronic polyneuropathy. We aimed to investigate the methodology used to develop national polyneuropathy guidelines and to provide an overview and strength of evidence of the recommendations. We searched PubMed and websites of national neurological associations as listed on the website of the World Federation of Neurology to identify national guidelines pertaining to the workup of chronic polyneuropathy by neurologists in an outpatient clinic setting. We identified three national guidelines in the United States and seven national guidelines in Denmark, France, Germany, the Netherlands, Norway, Spain, and Turkey. The methodology used to develop the guidelines differed greatly. All guidelines recommend a series of blood tests. Some guidelines advise to conduct NCS in all patients, while other guidelines advise to conduct NCS when certain symptoms are present. There is variation in recommendations about the extensiveness of NCS, but all mention measuring the sural nerve and the motor peroneal nerve. The evidence for the recommendations is graded as low. Despite some overlap, there are disparities between guidelines regarding the workup that is advised to do in patients with chronic polyneuropathy. It remains unclear which combination of blood tests are to be strongly recommended. Furthermore, it is undetermined whether NCS are always necessary. [ABSTRACT FROM AUTHOR]

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare syndrome with an autosomal recessive manner that develops due to a mutation in the SLC19A2gene. SLC19A2 encodes the highaffinity thiamine transport protein 1 (THTR1), which mediates the active transport of thiamine. The classical triad consists of megaloblastic anemia, sensorineural hearing loss, and non-autoimmune diabetes. Apart from this, ophthalmological, cardiological, and neurological findings have also been described. We present a case of thiamine-responsive megaloblastic anemia (TRMA) syndrome diagnosed in an adult with a novel mutation in the SLC19A2 gene. This 38-year-old female patient, a third child from a consanguineous marriage, presented with the classic TRMA triad: sensorineural deafness, megaloblastic anemia, and autoimmune diabetes. Starting thiamine treatment is essential in reducing the devel opmen t/pro gress ion of some complications; it is crucial to increase awareness of the disease and make an early diagnosis. [ABSTRACT FROM AUTHOR]

The association of multiple symmetric lipomatosis (MSL) and mitochondrial disorders is not frequent. We report a male patient with multiple lipomas, hearing loss, progressive limb-girdle muscle weakness, neuropathy and myoclonia. Serum creatinine kinase was mildly elevated. Electromyography revealed sensory axonal polyneuropathy and myopathy with sparse denervation. A muscle biopsy showed ragged-red fibers. Next-generation DNA sequencing revealed a heteroplasmic m.8344A>G mutation in the MT-TK gene. To the best of our knowledge, this is the first patient to be reported from Turkey with a diagnosis of MSL and myoclonic epilepsy with ragged red fibers (MERRF). [ABSTRACT FROM AUTHOR]

To evaluate the clinical features, demographic features, and treatment modalities of pediatric-onset chronic inflammatory demyelinating polyneuropathy (CIDP) in Turkey. The clinical data of patients between January 2010 and December 2021 were reviewed retrospectively. The patients were evaluated according to the Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society Guideline on the management of CIDP (2021). In addition, patients with typical CIDP were divided into two groups according to the first-line treatment modalities (group 1: IVIg only, group 2: IVIg + steroid). The patients were further divided into two separate groups based on their magnetic resonance imaging (MRI) characteristics. A total of 43 patients, 22 (51.2%) males and 21 (48.8%) females, were included in the study. There was a significant difference between pretreatment and post-treatment modified Rankin scale (mRS) scores (P < 0.05) of all patients. First-line treatments include intravenous immunoglobulin (IVIg) (n = 19, 44.2%), IVIg + steroids (n = 20, 46.5%), steroids (n = 1, 2.3%), IVIg + steroids + plasmapheresis (n = 1, 2.3%), and IVIg + plasmapheresis (n = 1, 2.3%). Alternative agent therapy consisted of azathioprine (n = 5), rituximab (n = 1), and azathioprine + mycophenolate mofetil + methotrexate (n = 1). There was no difference between the pretreatment and post-treatment mRS scores of groups 1 and 2 (P > 0.05); however, a significant decrease was found in the mRS scores of both groups with treatment (P < 0.05). The patients with abnormal MRI had significantly higher pretreatment mRS scores compared with the group with normal MRI (P < 0.05). This multicenter study demonstrated that first-line immunotherapy modalities (IVIg vs IVIg + steroids) had equal efficacy for the treatment of patients with CIDP. We also determined that MRI features might be associated with profound clinical features, but did not affect treatment response. [ABSTRACT FROM AUTHOR]

Objective: Changes in magnesium metabolism have a different effect on the metabolic and signaling pathways in the development and progression of diabetes. This study aimed to determine the relationship between the serum magnesium level and polyneuropathy in patients with type 2 diabetes mellitus (DM). Methods: The study included type 2 DM patients who presented to the neurology outpatient clinic of Ankara City Hospital with the complaint of pain and burning sensation in the hands and feet and received a pre-diagnosis of polyneuropathy based on electroneuromyography. Biochemistry and hormone parameters of patients were scanned retrospectively. Results: A total of 116 patients, 49 (42.2%) female and 67 (57.8%) male, were included in the study. The frequency of polyneuropathy was significantly higher in the group with high HbA1C (>10.1%) compared to the group with low HbA1C (<7.1%) (P=0.004). Mg levels were significantly lower in patients with polyneuropathy (1.8±0.2 mg/dl) compared to those without polyneuropathy (2.0±0.4 mg/dl) (P=0.013). Patients with additional complications other than polyneuropathy had significantly lower magnesium levels than those without such complications(P=0.021). The mean Mg level was 1.82±0.50 mg/dl for the patients with complications while it was 1.88±0.18 mg/dl for those without complications. Conclusions: This study showed that the magnesium levels were significantly associated with the development of polyneuropathy in patients with type 2 DM. It was concluded that an adequate magnesium level in patients with glycemic control can prevent the development of diabetic polyneuropathy. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aim of the study was to investigate social competence in children with orthopaedic disability and its concurrent relations to child’s temperament, health condition, and maternal warmth. Participants were 68 Turkish children (mean = 5.94 years) with chronic orthopaedic disability and their mothers coming from disadvantaged backgrounds. Mother ratings were used to measure social competence, temperament, general health condition, and parental warmth. The attending physician rated the severity of orthopaedic disability. Attentional focusing, emotional reactivity, and child’s sex significantly predicted social competence. Age at first operation was slightly negatively associated with reactivity. The findings revealed the importance of emotional and attentional regulation for social functioning in children with orthopaedic disability, and pointed to the susceptibility of reactivity to environmental conditions. The study suggested that social functioning of youth with orthopaedic disability might benefit from temperament-based intervention and prevention programmes. [ABSTRACT FROM AUTHOR]

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by acute, painless and recurrent mononeuropathies that are secondary to minor trauma or compression. Diagnosis is often overlooked when detailed examinations are not performed. We discuss the features of our four HNPP patients and their close relatives in order to emphasize the importance of clinical and electrophysiological findings in the diagnosis of HNPP. Four patients and three members of the family underwent genetic testing and HBDN deletion was shown in all. [ABSTRACT FROM AUTHOR]

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by acute, painless and recurrent mononeuropathies that are secondary to minor trauma or compression. Diagnosis is often overlooked when detailed examinations are not performed. We discuss the features of our four HNPP patients and their close relatives in order to emphasize the importance of clinical and electrophysiological findings in the diagnosis of HNPP. Four patients and three members of the family underwent genetic testing and HBDN deletion was shown in all. [ABSTRACT FROM AUTHOR]

In this report we describe the upper gastrointestinal tractus involvement in a rare genetic disease of lipid metabolism. A 12-year-old boy presented with sore throat and fever. On physical examination, orange-yellow tonsils and adenoid tissue were noted. Mild hepatosplenomegaly was present. Lipid profile was compatible with Tangier disease ( TD). Endoscopy of the upper gastrointestinal tract showed white-yellowish fatty deposits on the gastric mucosa. Microscopically, biopsy specimens contained numerous histiocytes with a foamy cytoplasm packed in the lamina propria of the gastric mucosa and at the crypt basement of the duodenum. His sister, 8 years old, was also diagnosed with TD based on abnormal lipid profile and orange-yellow tonsils. TD is a rare familial disorder of lipid metabolism, characterized by deposition of cholesteryl esters, probably involving the entirety of the gastrointestinal tract from the mouth to the anus. [ABSTRACT FROM AUTHOR]

Background: Brucellosis is an anthropozoonotic disease with heterogeneous clinical presentations. This study aims to investigate the peripheral nervous system (PNS) involvement in brucellosis. Methods: A total of 57 patients with brucellosis, and 42 age- and gender-matched healthy subjects were enrolled into the study. We performed motor conduction studies that included bilateral median, ulnar, tibial and peroneal nerves, and sensory nerve investigations from bilateral median, ulnar, radial, sural and medial plantar nerves. Results: Among patients with brucellosis, 21 had neuropathic symptoms. Of these, 9 had abnormalities in nerve conduction studies. The electromyographic testing revealed abnormalities in 2 patients without neuropathic symptoms. Overall, 11 patients (4 males, 7 females) with brucellosis (19.3%) had polyneuropathy (PNP). The mean age of patients with PNP was 52.63 ± 19.06 years, being significantly higher than those without PNP (P = 0.006). The mean duration of brucellosis was also longer in patients with PNP, but not significant. The mean distal latency (DL) and nerve conduction velocity (NCV) values were almost always longer in patients with brucellosis than controls, though not statistically significant. Conclusion: Our results showed that brucellosis causes clinical or subclinical peripheral PNP, and should therefore be considered as a cause of PNP, especially in endemic regions. [ABSTRACT FROM AUTHOR]