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Background: The accessibility of effective SMA (spinal muscular atrophy) treatment is resulting in a growing number of affected women reaching fertility age and deciding to conceive. Pregnancy in women with SMA is associated with a high risk of rapid progression of symptoms, including increased weakness, growing paresis, or even onset of respiratory failure requiring ventilation support. Muscle weakness frequently leads to disability, which in a high percentage is irreversible. Pre-term labor and delivery by cesarean section are the most commonly described cases in the literature. Methods: This paper aims to describe the first case in Europe, a 21-year-old patient treated with Nusinersen under the drug program during the third trimester of pregnancy. Despite the significant progression of the disease during pregnancy, the patient did not lose gait function. The pregnancy was ended at 33Hbd, and the baby's condition was unremarkable. In addition to clinical data, this paper also discusses the economic aspects. Conclusions: Thanks to the rapid initiation of treatment, the patient did not lose her ability to walk, and a significant improvement in motor function was observed after the postpartum period. No side effects or negative effects on the fetus were observed. [ABSTRACT FROM AUTHOR]

Neuronal ceroid lipofuscinoses (NCLs) are a growing group of neurodegenerative storage diseases, in which specific features are sought to facilitate the creation of a universal diagnostic algorithm in the future. In our ultrastructural studies, the group of NCLs was represented by the CLN2 disease caused by a defect in the TPP1 gene encoding the enzyme tripeptidyl-peptidase 1. A 3.5-year-old girl was affected by this disease. Due to diagnostic difficulties, the spectrum of clinical, enzymatic, and genetic tests was extended to include analysis of the ultrastructure of cells from a rectal biopsy. The aim of our research was to search for pathognomonic features of CLN2 and to analyse the mitochondrial damage accompanying the disease. In the examined cells of the rectal mucosa, as expected, filamentous deposits of the curvilinear profile (CVP) type were found, which dominated quantitatively. Mixed deposits of the CVP/fingerprint profile (FPP) type were observed less frequently in the examined cells. A form of inclusions of unknown origin, not described so far in CLN2 disease, were wads of osmophilic material (WOMs). They occurred alone or co-formed mixed deposits. In addition, atypically damaged mitochondria were observed in muscularis mucosae. Their deformed cristae had contact with inclusions that looked like CVPs. Considering the confirmed role of the c subunit of the mitochondrial ATP synthase in the formation of filamentous lipopigment deposits in the group of NCLs, we suggest the possible significance of other mitochondrial proteins, such as mitochondrial contact site and cristae organizing system (MICOS), in the formation of these deposits. The presence of WOMs in the context of searching for ultrastructural pathognomonic features in CLN2 disease also requires further research. [ABSTRACT FROM AUTHOR]

In recent years, the frequency of diagnosing autoimmune encephalitis has increased significantly, both in the population of adults and children and adolescents. This fact is undoubtedly related to the dynamic development of new diagnostic methods, as well as the progress of medical knowledge. A particular type of this condition is anti-NMDA receptor encephalitis. Due to the presence of psychiatric symptoms in this disease, psychiatrists are often the first specialists who treat a patient with the above diagnosis. Differential diagnosis is extremely difficult and primarily based on the history and presence of typical clinical symptoms. Therefore, based on a narrative review of the literature on the subject searched by the PubMed, EMBASE, and Cochrane library databases from 2007-2021 with the keywords "anti-NMDAR encephalitis", "children", and "adolescents", the author described the characteristic course of the disease, diagnostic methods used to confirm the diagnosis, and presents current treatment guidelines. Due to high prevalence, anti-NMDA receptor encephalitis is a diagnosis that should be considered in the differential diagnosis in everyday psychiatric practice. [ABSTRACT FROM AUTHOR]

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The phenomenon of drug-induced mania, i.e., a manic episode associated with the use of pharmacotherapy (in particular antidepressants) is well defined and described in groups of adult patients. The negative effect on the course of bipolar disorder has been confirmed. In the group of children and adolescents, this subject is still poorly known and rarely described because of controversies in diagnosing early-onset bipolar disorder. The authors present an overview of current research on this problem starting from case reports, through open studies to randomized trials. Because the results of studies are ambiguous, the main problems that hinder the formulation of objective conclusions and the most important directions for further research are also discussed. The authors also present current hypotheses on the phenomenon of drug-induced mania in children and adolescents to systematize knowledge on the subject and provide diagnostic help in everyday clinical work. In a group of children and adolescents, there is a need to differentiate the phenomenon of drug-induced mania depending on the basic disorder, because similarly to studies that concern adult patients this problem seems to occur more frequently in patients with bipolar disorder than in other psychiatric disorders. It seems that the diagnosis of drug-induced mania is possible in children and adolescents at the present stage of knowledge, however, the assessment of the prevalence of this phenomenon requires careful evaluation in further studies. [ABSTRACT FROM AUTHOR]

Neuronal ceroid lipofuscinoses type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2-4 years of age, characterized by seizures, loss of vision, progressive motor and mental decline, and premature death. CLN2 disease is caused by loss-of-function mutations in the tripep-tidyl peptidase 1 (TPP1) gene leading to deficiency in TPP1 enzyme activity. Approximately 60% of patients have one of two pathogenic variants (c.509-1G > C or c.622C > T). CLN2 disease belongs to the group of the neuronal ceroid lipofuscinoses (NCLs) characterized by massive accumulation of autofluorescent lipopigments in storage bodies in neurons, and in extraneuronal cells. Ultrastructurally, lysosomal inclusions are seen as granular osmiophilic deposits (GRODs), curvilinear (CVPs), fingerprint (FPPs), or rectilinear profiles (RLPs). We present the case of an almost four-year-old girl with clinical suspicion of NCL. The development of the patient was disharmonious. EEG revealed focal temporal sharp and slow waves bilaterally with tendency to generalization. The MRI showed no abnormalities. Quick dry blood spot detection CLN2 test revealed decreased TPP1 activity of 0.9 umol/l/h (cut-off value > 4.5). The whole exome sequencing isolated from the blood revealed a mutation c.622C > T/c.509-1G > C in the TPP1 gene mostly detected in the CLN2 disease. Additionally a biopsy of the rectal mucosa was performed, where the muscularis mucosa, connective tissue, nerve fibers and small blood vessels were examined. Numerous deposits of CVPs were found in the analyzed cells and few deposits of mixed CVPs in association with FPPs. Rectal biopsy is a useful method of obtaining cells with high morphological and functional diversity, and can be used to detect pathological ultrastructural lipopigment deposits occurring in CLN2 disease. [ABSTRACT FROM AUTHOR]