[Cerebral blood flow during neurocardiogenic syncopes in children]. / Przeplyw mózgowy krwi w omdleniach neurokardiogennych u dzieci.

BACKGROUND: Neurocardiogenic syncope, the most common episodic event in children results from global cerebral hypoperfusion. Monitoring of the blood flow during head-up tilt-induced syncope resulted in registration of preferential reduction of end-diastolic velocities in middle cerebral arteries (MCA). The significance of those changes was however not explained. The aim of this retrospective research was to establish the significance of visual inspection of spectra changes of cerebral blood flow in MCA during presyncope and syncope in children. MATERIAL AND METHODS: The diagnostic head-up tilt test (TT) was conducted in 276 children with neurocardiogenic syncopes. The group consisted of 211 girls and 65 boys aged 8 to 18 years (mean age 14 years). 30 healthy volunteers were enrolled as a control group. During rest in supine position and during tilting upright to 70 degree at the tilt table, the blood flow was monitored in MCA using Nicolet Companion III in order to perform transcranial Doppler ultrasonography. RESULTS: During passive TT symptoms of syncope were observed in 31 girls and 10 boys after 3 to 30 min (mean 13.7 min) of tilting, and mild presyncopal signs in other 9 children. The most typical change of the blood flow in MCA registered during vasovagal syncope was a preferential decrease of end-diastolic velocities. In one patient two TT were performed, both examinations were positive, however during the second TT wave reflection during early diastole in MCA was registered. In one child from the control group result of TT was false positive, with the same pattern of blood flow spectra, as in children from the syncope group. During hyperventilation the reduction of velocities of the blood flow in MCA was detected, mainly diastolic. CONCLUSIONS: The registration of reduced velocities of the blood flow in middle cerebral arteries during diastole may allow to earlier termination of tilting in order to prevent a loss of consciousness. One of important prophylactic actions related to syncope is to counteract hyperventilation. The pattern of high resistance spectrum of blood flow in MCA, with a backward direction of early diastolic flow during syncope may suggest that wave reflection may play a significant role.

[Latent tetany in child, electrophysiologico-clinical study]. / Dziecko z tezyczka utajona, studium kliniczno-neurofizjologiczne.

Tetany is the abnormal state of increased neuromuscular excitability. It is manifested with muscle cramps and spasms, usually associated with abnormal calcium metabolism. This state can be devided into two main types: tetany with clinical manifestaton (hypocalcemic) and occurred more frequently latent tetany (normocalcemic). In this study was presented the case of a child with electrophysiological and clinical manifestation of latent tetany. We report a case of a female patient who was admitted to the Pediatric Neurology Department in the year 2015. Some clinical, biochemical and neurophysiological results have been analyzed.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

Hereditary spastic paraplegias (HSPs) consist of a heterogeneous group of genetically determined neurodegenerative disorders. Progressive lower extremity weakness and spasticity are the prominent features of HSPs resulting from retrograde axonal degeneration of the corticospinal tracts. Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs). Here, we present the results of genetic testing of the three mentioned SPG genetic types in a group of 216 unrelated Polish patients affected with spastic paraplegia. Molecular evaluation was performed by multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing. Nineteen novel mutations: 13 in SPAST, 4 in ATL1 and 2 in REEP1, were identified among overall 50 different mutations detected in 57 families. Genetic analysis resulted in the identification of molecular defects in 54% of familial and 8.4% of isolated cases. Our research expanded the causative mutations spectrum of the three most common genetic forms of HSPs found in a large cohort of probands originating from the Central Europe.