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.

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.

The comorbidity of autistic spectrum disorder (ASD) and epilepsy has been widely discussed but many questions still remain unanswered. The aim of this study was to establish the occurrence of epilepsy among children with ASD to define the type of epileptic seizures and syndromes, the age of onset of epilepsy, EEG abnormalities, the used antiepileptic drugs and the therapeutic responses for seizures and autistic behavior, as well as to find some correlations between epilepsy and gender, etiology and intellectual disability (ID). A retrospective study of medical files of 59 patients (aged 1–18 years) with ASD during a 5-year period was performed. ASD diagnosis was based on the DSM-5 diagnostic criteria. The patients were examined with a detailed medical history, physical and neurological examination, as well as some additional functional, imaging, laboratory and genetic investigations ASD etiology was syndromic in 9, probable syndromic in 9, and idiopathic in 41 children. ID was established in 90% of ASD children, and epilepsy in 44.4%. The onset of epilepsy prevailed before 7 years of age. The most common seizure types were focal with or without secondary generalization (53.4%). Focal epileptiform EEG abnormalities prevailed. Therapeutic response to seizures was good: 58% were seizure-free, while 27% had >50% seizure reduction but no improvement in autistic behavior. There was no correlation between epilepsy and either occurrence or degree of ID. There was a correlation between the frequency of epileptic seizures and the degree of ID. There was no significant difference among epilepsy rates in different etiologic, gender, and ID groups, probably because of the high percentage of ID and because this was a hospital-based study. Our study showed a significant percentage of epilepsy in ASD population and more than 1/4 were of symptomatic etiology. Those could be managed with specific treatments based on the pathophysiology of the gene defect.