Pontocerebellar hypoplasia (PCH) type 2 is a very rare autosomal recessive neurodegenerative disorder with prenatal onset that disrupts brain development. We present three patients (two siblings and one unrelated child) with PCH 2 linked to the most common mutation c.919G > T (p.Ala307Ser) in TSEN54 gene. The disease started soon after birth with feeding difficulties, extrapyramidal symptoms, psychomotor retardation, progressive microcephaly. Two of the patients were diagnosed with dyskinetic cerebral palsy (CP) at first. Despite the neurodegenerative character of PCH 2, the absence of regression and even some developmental progress in few patients, might erroneously lead to the incorrect diagnosis of dyskinetic CP. Megacisterna magna on brain ultrasound makes the diagnosis of PCH 2 highly probable and should prompt further imaging with MRI. MRI findings of PCH are pivotal for the diagnosis. Genetic testing for the most common mutation in TSEN54 gene should also be performed. Correct diagnosis of PCH 2 is essential not only for the prognosis of the patient, but also for prenatal diagnosis in future pregnancies. Knowledge of the clinical picture of PCH 2 will lead to correct and timely diagnosis. Advanced neuroimaging procedures and molecular genetic techniques provide valuable tools for prompt diagnosis of rare, but clinically important, neurogenetic imitators of CP.

Background: Development of biomarkers for autism spectrum disorder (ASD) has still remained a challenge to date. Recently, alterations of the expression of microRNAs (miRNAs) in peripheral blood, serum and post-mortem brain tissue have been linked to ASD. miRNAs are known to be secreted by various cell types and can mediate transmission of information into recipient cells and to modulate their physiological functions. On this basis it is assumed that circulating miRNAs could be useful biomarkers for the diagnosis or prognosis of pathological conditions.Aim: The aim of this study was to test whether circulating miRNAs display differential expression profile in serum of ASD patients.Patients and methods: The relative expression levels of 42 miRNAs were analyzed by stem-loop qRT-PCR assay in the serum of ASD patients compared to healthy controls.Results: The results indicated that 11 miRNAs in ASD patients were substantially higher expressed than these in control subjects, and 29 miRNAs were lower expressed, respectively. In addition, target gene analysis displayed that the altered serum miRNAs targeted some important genes like alpha 1C subunit of voltage-dependent calcium channel, L type, (CACNA1C), beta 1 subunit of voltage-dependent calcium channel (CACNB1) and other genes involved in epigenetic processes like dicer 1, coding ribonuclease type III (DICER).Conclusion: Our results suggested that differentially expressed miRNAs in serum might be involved in ASD molecular pathways, and serum miR-424-5p, miR-197- 5p, miR-328-3p, miR-500a-5p, miR-619-5p, miR-3135a, miR-664a-3p, and miR- 365a-3p might be able to serve as potential biomarkers for ASD because they displayed significant alterations in the expression profile in children diagnosed with ASD.

The International Classification of Headache Disorders (ICHD-II) - 2004 recognises many migraine variants (different from migraine without aura and migraine with typical aura), but acute confusional migraine (ACM) remains unclassified and most clinicians are not well acquainted with it. The aim of this study was to illustrate ACM in the neuropaediatric practice, to discuss its place in the ICHD-II and to propose diagnostic criteria. A total of 2509 files of newly diagnosed patients, aged 0-18 years, treated as in- and outpatients in the Neuropaediatric Ward at the Plovdiv Medical University Hospital between 2002 and 2006 were screened retrospectively. Their diagnosis was based on detailed medical history, physical and neurological examination, additional functional, imaging and laboratory investigations. Migraine and migraine variants were diagnosed according to ICHD-II, but specific forms (e.g. ACM and Alice in wonderland syndrome) were also included. One hundred and eleven patients met the diagnostic criteria for migraine. Migraine variants comprised 24.3% of all migraine cases. In particular, ACM represented 11.1% of migraine variants or 2.7% of migraine and 0.12% of all paediatric neurological diseases. Here, we report three cases of ACM with analysis of the typical clinical and EEG features, review the literature and propose diagnostic criteria. ACM may present as either the only manifestation of a migraine attack or in the context of other migraine forms. ACM should have its own distinct place in the ICHD-II, may be as a subtype of migraine with complex aura.