Evaluation of Neutrophil Gelatinase-Associated Lipocalin Levels in Children With Febrile Seizures: A Case-Control Study.

Febrile seizure (FS) is a common pediatric neurological disorder, which may be associated with hypoxia and kidney injury. We aimed to investigate serum levels of neutrophil gelatinase-associated lipocalin (NGAL) in children with FS. This case-control study included 50 children with FS, 50 febrile controls (FCs), and 50 healthy controls (HCs).

Levetiracetam and Midazolam vs Midazolam Alone for First-Line Treatment of Children With Generalized Convulsive Status Epilepticus (Lev-Mid Study): A Randomized Controlled Trial.

Background: Benzodiazepines are the first-line anti-seizure medication (ASM) for generalized convulsive status epilepticus (GCSE), but they fail to end seizures in a third of cases. Combining benzodiazepines with another ASM that acts by a different pathway could be a potential strategy for rapid control of GCSE.

Objectives: To evaluate the efficacy of adding levetiracetam to midazolam in the initial treatment of pediatric GCSE.

Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.

This study presents 46 patients from 23 unrelated Egyptian families with ALS2-related disorders without evidence of lower motor neuron involvement. Age at onset ranged from 10 months to 2.5 years, featuring progressive upper motor neuron signs.

Introduction of Spring-Assisted Cranioplasty for Sagittal Craniosynostosis in a Craniofacial Service: A Report of Early Experience.

Spring-assisted cranioplasty (SAC) for the treatment of craniosynostosis uses internal springs to produce dynamic changes in cranial shape over several months before its removal. The purpose of this study was to report the first Egyptian experiences with SAC in the treatment of children with sagittal synostosis and evaluate the preliminary outcome. A total of 17 consecutive patients with scaphocephaly underwent SAC with a midline osteotomy along the fused sagittal suture and insertion of 3 springs with bayonet-shaped ends across the opened suture.

Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic form of cerebral white matter disease whose clinicoradiologic correlation has not been completely understood. In this study, we investigated the association between clinical and brain magnetic resonance imaging (MRI) features in 22 Egyptian children (median age 7 years) with MLC. Gross motor function was assessed using the Gross Motor Function Classification System, and evaluation of brain MRI followed a consistent scoring system.

Clinical and immunological assessment of children with ataxia telangiectasia attending Sohag university hospital in Upper Egypt.

Ataxia Telangiectasia (AT) is a very rare autosomal recessive primary immune deficiency (PID) disease that affects 1 in 10,000-40,000 new births per year in the world. It is caused by biallelic mutations in ataxia telangiectasia mutated (ATM) gene and characterized by a progressive cerebellar ataxia. The clinical profile of AT children in Upper Egypt in missing.

Clinico-Radiological Correlation in 26 Egyptian Children with Glutaric Acidemia Type 1.

Background: Glutaric acidemia type 1 (GA1) is an inherited neurometabolic disease with significant morbidity. However, neuro-radiological correlation is not completely understood.

Objective: The study aimed to characterize the neuroimaging findings and their association with neurological phenotype in GA1 children.

Non-epileptic paroxysmal events in paediatric patients: A single tertiary centre study in Egypt.

Purpose: The misdiagnosis of non-epileptic seizures (NES) as epilepsy is one of the most common pitfalls in neuropsychiatric practice. This study aimed to describe the percentage and types of NES among children who were referred for a diagnosis of epilepsy in Upper Egypt.

Methods: We recruited a total of 876 patients who were referred to Sohag University Hospital, a tertiary referral centre in Upper Egypt, for the evaluation of suspected epilepsy.

Role of umbilical cord C-peptide levels in early prediction of hypoglycemia in infants of diabetic mothers.

Background: Until now, diabetes during pregnancy has been associated with a high risk of maternal, fetal, and neonatal morbidities and mortalities. The main aim of this study was to evaluate the risk factors of hypoglycemia in infants of diabetic mothers (IDMs) and to study the relationship between umbilical cord (UC) C peptide levels and the risk of developing hypoglycemia.

Material And Methods: UC blood C-peptide and serial serum blood glucose measurements were done for all included singleton newborns born to diabetic mothers during the study period.

Characterization and outcome of 11 children with non-diabetic ketoacidosis.

Objectives: To study the clinical and laboratory features, management, and outcome of pediatric non-diabetic ketoacidosis (NDKA).

Methods: Between May 2018 and April 2020, we prospectively collected children under 18 years who presented with ketoacidosis, defined as ketosis (urinary ketones ≥++ and/or serum β-hydroxybutyrate level ≥3 mmol/L) and metabolic acidosis (pH <7.3 and HCO <15 mmol/L).

Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation.

PA and MAA have numerous nonspecific presentations, potentially leading to delayed diagnosis or misdiagnosis. In this paper, we present the clinical and biochemical characteristics of MMA and PA patients at initial presentation. .

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Blepharophimosis-ptosis-intellectual disability syndrome (BPID) is an extremely rare recognizable blepharophimosis intellectual disability syndrome (BID). It is caused by biallelic variants in the UBE3B gene with only 24 patients described worldwide. Herein, we report on the clinical, brain imaging and molecular findings of additional nine patients from six unrelated Egyptian families.

Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years.

Background: Phenylketonuria (PKU) is considered to be a rare inborn error of metabolism but one of the commonest causes of mental retardation if untreated.

Objectives: The present study was done to characterize the clinical patterns of PKU and analyze various neuropsychiatric outcomes in PKU children in Sohag Province, Egypt.

Patients And Methods: A prospective cohort study was conducted on 113 PKU patients, diagnosed during the period from 2012 to 2017, at the Pediatric Neurology Clinic of Sohag University Hospital, Upper Egypt.

Pediatric self-inflicted eye trauma due to a major depressive disorder.

Self-inflicted eye trauma is a serious form of self-harm as it may lead to irreversible visual disability. Diagnosing self-inflicted ocular injuries, in all its forms, can be quite challenging. In this report, we are presenting a 5-year-old girl presented to Sohag University Outpatient Clinic with a history of repeated attacks of bilateral eye redness with blood-tinged strands removed from her eyes.

Metabolic profile of oxidative stress and trace elements in febrile seizures among children.

Febrile seizures (FS) are frequent convulsive disorders, occurring in infants and young children. The present study aims to assess and compare the serum levels of oxidative stress markers and some essential trace minerals in FS with normal or abnormal EEG and evaluate the effect of antioxidant therapy on the clinical outcome. This study has been carried out on 80 children with FS (40 with simple FS and 40 with complex FS) and 40 febrile children without seizures.

Evaluation of cardiac functions in children with Duchenne Muscular Dystrophy: A prospective case-control study.

Background: Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. The incidence of cardiomyopathy in DMD increases with age, so its early detection is important because institution of cardioprotective medical therapies may slow adverse remodeling and attenuate heart failure symptoms in these patients.

Objective: To assess the cardiac functions in children clinically suspected to have DMD.

Study of the C677T and 1298AC polymorphic genotypes of MTHFR Gene in autism spectrum disorder.

Background: Autism is currently known as "a behaviorally defined syndrome" manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle.

Aim: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients.

Outcome of Guillain - Barré Syndrome in Children: A prospective cohort study in a tertiary hospital in Upper Egypt.

Introduction: Guillain-Barré syndrome is the most common cause of acute flaccid paralysis in children, and defined as an acute inflammatory polyneuropathy. The objective of this study was to assess the clinico-laboratory profile, and outcome of Guillain-Barré syndrome in children at Sohag University Hospital.

Methods: This prospective cohort observational study was conducted in 2014-2015.

Pattern and Outcome of Acute Disseminated Encephalomyelitis (ADEM) in Children: Experience in a Tertiary Center, Upper Egypt.

Introduction: Acute disseminated encephalomyelitis (ADEM) is an immune mediated disease of the brain. Although it occurs in all ages, most reported cases are in children and adolescents. The aims of this study were to study the clinical pattern and outcome of ADEM in children in a tertiary center in Upper Egypt and to determine the effect of combined use of steroids and IVIg on outcome.

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

Aim: Molybdenum cofactor deficiency (MoCD) and Sulfite oxidase deficiency (SOD) are rare autosomal recessive conditions of sulfur-containing amino acid metabolism with overlapping clinical features and emerging therapies. The clinical phenotype is indistinguishable and they can only be differentiated biochemically. MOCS1, MOCS2, MOCS3, and GPRN genes contribute to the synthesis of molybdenum cofactor, and SUOX gene encodes sulfite oxidase.

Diagnostic value of lumbar puncture among infants and children presenting with fever and convulsions.

Introduction: Central nervous system (CNS) infections can be categorized according to the nature of the infectious pathogen into viral, bacterial, protozoan, or fungal. The diagnosis of diffuse CNS infections depends on examination of cerebrospinal fluid (CSF) obtained by lumbar puncture (LP). The aim of this work was to determine the diagnostic value of CSF analysis in infants and children presenting with fever and convulsions.

Clinico-laboratory profile of breath-holding spells in children in Sohag University Hospital, Upper Egypt.

Introduction: Breath-holding spells (BHSs) are involuntary pauses of breathing, sometimes accompanied by loss of consciousness. They usually occur in response to an upsetting or surprising situation. Breath-holding spells are usually caused by either a change in the usual breathing pattern or a slowing of the heart rate.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain-containing sorting factor. We found SNX14 localized to lysosomes and associated with phosphatidylinositol (3,5)-bisphosphate, a key component of late endosomes/lysosomes.