Acute necrotizing encephalopathy associated with RANBP2 mutation: value of MRI findings for diagnosis and intervention.

Introduction: Acute necrotizing encephalopathy (ANEC) is a rare entity characterized by encephalopathy following a febrile illness. Most patients are sporadic; however, recurrent and familial cases have been associated with RAN-binding protein 2 (RANBP2) mutation. Well-defined MRI findings can even be life-saving with early diagnosis and treatment.

Evaluation of the risk factors for recurrence and the development of epilepsy in patients with febrile seizure.

Background: Although febrile seizure (FS) is generally considered benign and self-limiting, there are differences regarding the risk factors, the prognosis, and the development of epilepsy.

Objective: To examine the clinical and sociodemographic characteristics of patients diagnosed with FS, and to determine the risks of recurrence and the development of epilepsy.

Methods: Between 2015 and 2019, we performed a retrospective evaluation of 300 patients with FS followed for at least 24 months.

Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.

Unlabelled: Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the prenatal period. Our study aimed to present different clinical and radiological manifestations of our genetically diagnosed PCH patients.

Method:  Six patients were enrolled in this study from September 2018 to March 2021.

The management of elevated intracranial pressure and sinus vein thrombosis associated with mastoiditis: the experience of eighteen patients.

Purpose: Cerebral sinus vein thrombosis (CSVT) associated with acute mastoiditis is a rare complication of acute otitis media. Elevated intracranial pressure (ICP) frequently occurs secondary to CSVT. The study aims to review the 5 years of experience of four medical centres to treat sigmoid sinus thrombosis and elevated intracranial pressure in children.

Newly defined peroxisomal disease with novel mutation.

Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been described in recent years. Here, we report two siblings with a novel homozygous nonsense variation (c.

Approaches for diagnosis and treatment in neurotransmitter disorders of childhood.

Neurotransmitter disorders are a group of neurometabolic syndromes caused by disturbances of neurotransmitter metabolism. The primary aim of this retrospective study is to present patients with disturbances of monoamine neurotransmitter metabolism. Cerebrospinal fluid (CSF) neurotransmitter measurements and genetic analysis were performed on five patients.

Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia.

Background: Arginase-1 deficiency is a rare, autosomal recessively inherited disorder of the urea cycle. In this study, we describe the clinical and molecular details of six patients who were diagnosed with argininemia, and we describe two of the patients with hyperargininemia who carried two novel variations of the Arginase-1 gene.

Methods: The clinical and demographic characteristics of the patients were retrospectively evaluated.

Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.

: Pathogenic variants of the gene have been linked to sexual differentiation disorders, spinocerebellar ataxia, and epileptic encephalopathy (EE). We evaluated the clinical and molecular data from six newly diagnosed patients with WWOX-related EE.: Clinical and molecular findings in six patients with EE were investigated, and biallelic pathogenic variants in the gene were identified.

A rare pediatric case of neurobrucellosis with bilateral optic neuritis.

Background: The estimated incidence of central nervous system involvement in brucellosis ranges between 0 and 17.8%. Optic neuritis is infrequently seen in the clinical presentation of neurobrucellosis.

MRI in CLN2 disease patients: Subtle features that support an early diagnosis.

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, paediatric-onset, neurodegenerative disorder characterised in its early stages by language delay, seizures and loss of motor function. It is rapidly progressive and ultimately results in the premature death of patients. We aim to highlight common magnetic resonance imaging (MRI) features seen in early CLN2 disease and increase disease awareness among clinicians in order to facilitate early diagnosis and treatment of patients with disease-modifying enzyme replacement therapy.

Magnetic resonance imaging patterns of subacute sclerosing panencephalitis may mimic metabolic disorders: clinical, electroencephalographic and imaging features of six cases.

Subacute sclerosing panencephalitis is a rare, devastating neurodegenerative encephalitis whose diagnosis and therapy are still in question. Atypical clinical presentation and heterogeneity of neuroimaging findings that have been initially confused with metabolic disorders have hampered early diagnosis. To describe a series of patients with subacute sclerosing panencephalitis with imaging findings mimicking metabolic disorders.

Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings.

Background: Glutaric Aciduria Type 3 (GA-3) is a rare metabolic disease which is inherited autosomal recessively and characterized by isolated glutaric acid excretion. To date, a limited number of cases have been reported in the literature. We present two patients with GA3 who were diagnosed with the isolated increased level of glutaric acid in urine.

Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.

Background Peroxisomal biogenesis disorders (PBDs) include a miscellaneous group of diseases which cause serious multisystem disease. Mutations of 13 different PEX genes lead to PBDs including Zellweger syndrome (ZS). Different types of mutations of PEX1 and PEX10 genes are correlated with broad-range phenotypes of PBDs.

Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations.

Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings. The diagnosis depends on the presentation of increased levels of L-2-hydroxyglutaric acid in the urine, plasma, and cerebrospinal fluids. Patients with L2HGA have an increased risk for the development of cerebral neoplasms which, though rarely, can be the initial presentation of the disease.

Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?

Background: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical and magnetic resonance imaging (MRI) findings of six cases of BTBGD diagnosed with newly identified mutations and genetically confirmed, with very early and different presentations compared to cases in the previous literature.

Methods: Six patients referred from different centers with similar clinical findings were diagnosed with BTBGD with newly identified mutations in the SLC19A3 gene.

A child with atypically subtle clinical presentation of acute arterial ischaemic stroke in the middle cerebral artery.

Arterial ischaemic stroke in the paediatric population is considered a rare disease, and its diagnosis is often delayed due to the subtlety and variability of clinical symptoms, especially in younger patients. The clinical presentation and imaging features of ischaemic stroke in the paediatric population are variable depending on the underlying cause, affected artery and patient's age. Literally, acute occlusion of the middle cerebral artery shows significant clinical signs and symptoms, and riotous imaging findings due to the size of the territory.

The efficacy of orbital ultrasonography and magnetic resonance imaging findings with direct measurement of intracranial pressure in distinguishing papilledema from pseudopapilledema.

Introduction: The goal of this study was to evaluate the utility of orbital ultrasonography and magnetic resonance imaging in the diagnosis of idiopathic intracranial hypertension (IIH).

Method: We reviewed the medical records of patients referred to our department for suspected IIH.

Results: Seven children were diagnosed with IIH.

Temporary Seizure in an Infant Who Had Been Exposed to G-Amino Butyric Acid Receptor Antagonist Thiocolchicoside.

Seizure is the most common presentation of neurological disorder in the pediatric emergency care setting. In evaluating the child after a first seizure, the first consideration should be determining if the seizure was provoked or unprovoked. Investigation listing the causes of the first seizure is considerably long, and adverse drug reactions must be in mind.

Novel Magnetic Resonance Imaging Findings in Children With Intracranial Hypertension.

Background: Increased intracranial hypertension is defined as elevated intracranial pressure with absence of hydrocephalus, vascular or structural abnormalities, and normal cerebrospinal fluid content. Magnetic resonance imaging abnormalities of the optic nerve and sheath that have been described in adults include increased nerve tortuosity, flattening in posterior aspect of globe, intraocular protrusion of the optic nerve, and enlarged optic nerve sheath.

Purpose: We evaluated accuracy of those proposed markers on magnetic resonance imaging in children with increased intracranial hypertension that are described in adults.

Opsoclonus-myoclonus syndrome following rotavirus gastroenteritis.

Opsoclonus-myoclonus syndrome (OMS) is a rare neurologic disorder characterized by opsoclonus, myoclonus, ataxia and behavioral disturbance. In the pathogenesis, an autoimmune process with infectious or paraneoplastic trigger has been suggested. We describe the case of a 22-month-old girl with OMS following rotavirus gastroenteritis.

Does nephrotoxicity exist in pediatric epileptic patients on valproate or carbamazepine therapy?

The aim of this study was to investigate the effects of valproate and carbamazepine, on renal glomerular and tubular functions. The patient group comprised 54 children with new-onset epilepsy treated with valproate (n = 30) and carbamazepine (n = 24). Twenty-six healthy children were in the control group.

Is acute dystonia an emergency? Sometimes, it really is!

Most cases of acute dystonia are mild and easy to manage; nevertheless, some of them can be fatal because of the involvement of certain muscle groups such as the laryngeal muscles, thus requiring urgent intervention. In the literature, approach to life-threatening acute dystonia has not been investigated thoroughly, although the diagnosis is a challenge, and treatment should be offered immediately. Herein the management of life-threatening acute dystonia is discussed via 2 case reports.