VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.

Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor.

Results: We present two related patients from Kosovo, describing the clinical, genetic, and therapeutic aspects of the syndrome. The identified novel VIPAS39 pathological variants (c.

Melatonin vs. dexmedetomidine for sleep induction in children before electroencephalography.

Background And Objectives: In children requiring electroencephalography (EEG), sleep recording can provide crucial information. As EEG recordings during spontaneous sleep are not always possible, pharmacological sleep-inducing agents are sometimes required. The aim of the study was to evaluate safety and efficacy of melatonin (Mel) and dexmedetomidine (Dex; intranasal and sublingual application) for sleep induction prior to EEG.

Multiple sclerosis in a 4-year-old boy: a case report and literature review.

Pediatric onset multiple sclerosis (POMS) in the very young is a very rare entity and presents a difficult diagnostic challenge due to overlapping signs and symptoms with other diseases. We present a 4-year-old boy who initially presented with right-sided hemiparesis and demyelinating lesions on MRI. Follow-up MRI examinations 3 and 6 months later revealed new demyelinating lesions.

Difficult to treat absence seizures in children: A single-center retrospective study.

Objectives: The aim of this study was to analyse the characteristics of typical absence seizures (AS), myoclonic AS and AS with eyelid myoclonia in children and to find associations between these characteristics and difficult to treat absence seizures (DTAS).

Methods: This was a single-center retrospective study. Electronic health records of pediatric patients with a clinical diagnosis of AS treated at a single tertiary epilepsy center between January 2013 and June 2020 were reviewed.

Children with cavernous malformations of the central nervous system.

Background: Cavernous malformations (CM) of the central nervous system (CNS) are a rare pathology in the pediatric population that may present with an acute onset of severe neurological symptoms.

Objective: The aim of our study was to evaluate the clinical presentation, family history, genetic background, radiological features, treatment and outcome of children with CM.

Methods: This observational cohort study included all children with CM of the CNS diagnosed in the period 2000-2020 at University Children's Hospital in Ljubljana, Slovenia.

Clinical and Radiological Characteristics of Non-Benign Pineal Cyst Lesions in Children.

With the increasing availability and advances in brain imaging, pineal cyst lesions (PCL) are becoming a common finding in the pediatric population. In the absence of evidence-based guidelines, optimal diagnostic and therapeutic approaches have not been established, and there is a risk of under- or overtreatment of these patients. The aim of our study was to evaluate the clinical presentation and radiological features of PCL in a cohort of pediatric patients and to identify clinical parameters more commonly associated with neoplasms in the pineal region.

The perceived health of children with epilepsy, sense of control, and support for their families.

Aim: The aim of this study was to evaluate the perceived health of children with epilepsy as experienced by the respondents to a questionnaire, to assess the sense of control over their child's epilepsy, and how much support they feel they received in various environments.

Methods: In this observational study, the data were collected using a questionnaire that was sent to families of children with epilepsy, who were treated at University Children's Hospital in Ljubljana, Slovenia from January to September 2016. The questionnaire consisted of 29 questions related to their epilepsy.

Brain Aneurysms in the Pediatric Population of Slovenia: A Case Series.

Background: Brain aneurysms are rare in the pediatric population. The diagnosis of a brain aneurysm in a child may be difficult because of its infrequency and often subtle or nonspecific clinical presentation. Endovascular therapy and microsurgical treatment are increasingly used approaches in treating children, possibly contributing to favorable outcomes if patients are treated in a timely manner.

Cannabidiol for treatment of refractory childhood epilepsies: Experience from a single tertiary epilepsy center in Slovenia.

Purpose: Refractory epilepsies in children present a major burden for patients and their families. Cannabidiol (CBD) has been suggested as a potential treatment for refractory epilepsies. The aim of this study was to evaluate the effectiveness of add-on therapy with CBD for the treatment of refractory childhood epilepsies.

Epidemiological and clinical characteristics of multiple sclerosis in paediatric population in Slovenia: A descriptive nation-wide study.

Background: Although multiple sclerosis usually affects young adults, paediatric-onset multiple sclerosis (pMS) is increasingly recognized in the past ten years. The aim of the present study was to evaluate the incidence of pMS in Slovenia and to characterize the clinical, laboratory and neuroradiological characteristics of pMS at the disease onset.

Methods: We performed a national retrospective descriptive study including all patients diagnosed with pMS between January 1992 and June 2017.

Incidence of tonic spasms as the initial presentation of pediatric multiple sclerosis in Slovenia.

Tonic spasms (TS) are involuntary movement patterns that can present in patients with multiple sclerosis (MS). They have been first described decades ago, but are frequently missed and misdiagnosed, particularly in the pediatric MS patients and if appearing ahead of hallmark neurological signs and symptoms of MS. Slovenia is a country with the population of about 2 million people.

TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

Background: Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology and in the management of TSC, several questions remain unanswered. A disease registry could be an effective tool to gain more insights into TSC and thus help in the development of improved management strategies.

Painful micturition in a small child: an unusual clinical picture of paroxysmal extreme pain disorder.

Background: Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant pain disorder linked to a mutation in the SCN9A gene, which encodes voltage-gated sodium channel Nav1.7. Abnormal pain sensitivity occurs because of changes in the properties of voltage-gated sodium channels.

A right-to-left shunt and prothrombotic disorders in pediatric patients presenting with transient ischemic attack.

Arterial ischemic stroke is an important cause of morbidity and mortality in pediatric population. A right-to-left shunt (RLS) across the patent foramen ovale was recently demonstrated as a possible risk factor for pediatric stroke. Prothrombotic disorders are frequently identified in pediatric patients with stroke.

A right-to-left shunt in children with arterial ischaemic stroke.

Objective: To compare the prevalence and grade of right-to-left shunt (RLS) in children with arterial ischaemic stroke (AIS) and in controls.

Design: Prospective study.

Setting: Tertiary paediatric referral centre.

Patent foramen ovale and unexplained ischemic cerebrovascular events in children.

Objectives: To consider the role of patent foramen ovale (PFO) in ischemic cerebrovascular event of unknown cause in children.

Background: Data regarding the possibility of paradoxical embolism in unexplained ischemic cerebrovascular event in children are lacking.

Methods: Between January 2005 and March 2007, all consecutive children evaluated due to ischemic cerebrovascular event were included in the retrospective study.