Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel variants and genes is needed. Our previous study analyzed 74 adult Serbian HSP patients from 65 families using panel of the 13 most common HSP genes in combination with a copy number variation analysis. Conclusive genetic findings were established in 23 patients from 19 families (29%). In the present study, nine patients from nine families previously negative on the HSP gene panel were selected for the whole exome sequencing (WES). Further, 44 newly diagnosed adult HSP patients from 44 families were sent to WES directly, since many studies showed WES may be used as the first step in HSP diagnosis. WES analysis of cohort 1 revealed a likely genetic cause in five (56%) of nine HSP families, including variants in the ETHE1, ZFYVE26, RNF170, CAPN1, and WASHC5 genes. In cohort 2, possible causative variants were found in seven (16%) of 44 patients (later updated to 27% when other diagnosis were excluded), comprising six different genes: SPAST, SPG11, WASCH5, KIF1A, KIF5A, and ABCD1. These results expand the genetic spectrum of HSP patients in Serbia and the region with implications for molecular genetic diagnosis and future causative therapies. Wide HSP panel can be the first step in diagnosis, alongside with the copy number variation (CNV) analysis, while WES should be performed after.

Traumatic lingual hematoma after generalized tonic-clonic seizure in a patient with an acquired coagulopathy.

Oral lacerations are common complications of seizures and account for 92% of all oral injuries. Seizures are relatively commonly associated with chronic alcohol consumption. It is already known that provoked seizures can occur after a sudden cessation of prolonged alcohol intoxication. Meanwhile, chronic alcohol consumption can disrupt the blood coagulation process on several levels. This report aims to present a case of generalized tonic-clonic seizure in a man with chronic alcoholism and acquired coagulopathy who suffered severe tongue injury during a seizure. A 45-year-old man was brought to the emergency department after a first-in-life generalized tonic-clonic seizure. He gave information that he bit his tongue during the seizure. Shortly afterward, the patient had another generalized seizure during which he stopped breathing and was intubated. On admission, the patient was sedated, intubated, and on mechanical ventilation, with no signs of focal neurological deficit. A detailed physical examination revealed massive tongue swelling, which was significantly moved forward. Laboratory tests revealed coagulopathy (INR 2,10) severe thrombocytopenia with a platelet count of 50x109/L. Electrolyte values were in the reference range. According to the maxillofacial surgeon's recommendation, he was treated conservatively, and after 2 weeks, he was clinically stable with a significant reduction of lingual hematoma and without new epileptic events. In our case, decreased platelet count and probable platelet dysfunction associated with chronic alcohol consumption and tongue bite during generalized tonic-clonic seizure played a significant role in developing lingual hematoma. These fast-developing lingual hematomas can lead to possible airway obstruction; therefore, careful observation and timely intubation are mandatory to prevent possible fatal complications.

Is there a difference between GBS triggered by COVID-19 and those of other origins?

Background: Since the outbreak of the coronavirus disease 2019 (COVID-19), an increasing number of Guillain-Barré syndrome (GBS) cases following the infection has been reported. The aim of our study was to detect patients with GBS treated in our hospital over a 1-year period and to compare the characteristics and outcomes of those triggered by COVID-19 with the rest of GBS patients. Our prospective study included 29 patients who were diagnosed with GBS from March 2020 to March 2021. Based on the preceding event, patients were stratified as post-COVID-19 and non-COVID-19. The GBS disability scale (GDS) was used to assess functional disability. Results: We identified 10 (34.5%) patients with post-COVID-19 GBS and 19 (65.5%) patients with non-COVID-19 GBS. The median time from the preceding event to the symptoms onset was longer in post-COVID-19 than in non-COVID-19 GBS patients (p = 0.04). However, the time from the symptom onset to the nadir did not differ (p = 0.12). GDS at admission, as well as at nadir, did not differ between these two groups. The level of proteinorrachia was higher in post-COVID-19 GBS patients (p = 0.035). The most frequent subtype of GBS in both groups was acute inflammatory demyelinating polyneuropathy (AIDP). GDS score at discharge (p = 0.56) did not differ between two study groups. Conclusions: There was no difference in clinical and electrophysiological features, disease course, and outcome in post-COVID-19 compared with non-COVID-19 GBS patients.