No abstract available.
Biopsy* ; Child* ; Humans ; Mass Screening*

Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.
Diagnosis ; Genetic Counseling ; Genetic Heterogeneity ; Genetic Testing ; Humans ; Molecular Biology ; Molecular Diagnostic Techniques ; Neuromuscular Diseases ; Pediatrics ; Phenotype

Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the majority of cellular energy in the form of ATP. Mitochondrial disorders are either due to sporadic or inherited mutations of genes located in nuclear or mitochondrial DNA or due to other exogenous factors. Although several proteins related with signalling, assembling, transporting, and enzymatic function can be impaired in mitochondrial disorders, most frequently however, the activity of the respiratory chain protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. Mitochondrial disorders usually show a chronic slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. They represent a diagnostic challenge because of their wide variation in presentation and course. Systems frequently affected in mitochondrial disorders are peripheral nervous system, brain, endocrine system, heart, eyes, ears, guts, kidney and bone marrow. Although there is no specific therapy and cure for mitochondrial disorders, the rapidly increasing understanding of the pathophysiological background of the disorders may further facilitate the diagnostic approach and open perspectives to, possibly causative therapies in future.
Adenosine Triphosphate ; Bone Marrow ; Brain ; DNA, Mitochondrial ; Ear ; Electron Transport ; Endocrine System ; Energy Metabolism ; Heart ; Kidney ; Mitochondria ; Mitochondrial Diseases* ; Oxidative Phosphorylation ; Oxygen ; Parturition ; Peripheral Nervous System

Mitochondria contain respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce a main part of cellular energy in the form of ATP. Mitochondrial disorders occur either due to sporadic or inherited mutations of the genes located in the nuclear or mitochondrial DNA or due to other exogenous factors. Although several proteins related with signalling, assembling, transporting, and enzymatic functions can be impaired in mitochondrial disorders, most frequently the activity of the respiratory chain protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. Mitochondrial disorders usually show a chronic and slowly progressive course and present with multiorgan involvement with varying onsets between birth and late adulthood. They represent a diagnostic challenge because of their wide variations in the presentation and the course. The systems frequently affected in mitochondrial disorders are the peripheral nervous system, brain, endocrine system, heart, eyes, ears, guts, kidneys and bone marrow. Although there is actually no specific therapy and cure for mitochondrial disorders, the rapidly increasing understanding of the pathophysiological background of mitochondrial disorders may further facilitate the diagnostic approach and open perspectives to the future and possibly causative therapies.
Adenosine Triphosphate ; Bone Marrow ; Brain ; DNA, Mitochondrial ; Ear ; Electron Transport ; Endocrine System ; Energy Metabolism ; Heart ; Kidney ; Mitochondria ; Mitochondrial Diseases* ; Oxidative Phosphorylation ; Oxygen ; Parturition ; Peripheral Nervous System

Seizures are a frequent symptom in metabolic disorders, although metabolic disorders are rarely found to be the cause of epilepsy. A precise diagnosis might not only influence treatment, but it might also call for counseling of the family, even if there are no direct therapeutic consequences. We review the main characteristics of epilepsy in metabolic disorders with regard to energy metabolism, toxic effects, neurotransmitters, and vitamins.
Counseling ; Energy Metabolism ; Epilepsy ; Humans ; Neurotransmitter Agents ; Seizures ; Vitamins

Intravenous immunoglobulin (IVIG) is used in treating many cases of autoimmune and inflammatory conditions thanks to its multiple anti-inflammatory and immunomodulatory properties. The clinical use of IVIG has been for the patients with primary immunodeficiencies, but lately it is expanding its usage to the realms of treating patients with neurological conditions. Both the efficacy and safety of IVIG treatment in chronic inflammatory demyelinating polyradiculoneuropathy and Guillain–Barré syndrome have been studied successfully. However, the use of IVIG treatment in other neurological conditions still remains investigational despite several successful reports. Considerable numbers of mechanisms have been suggested in order to explain the effects of IVIG, but the exact mechanisms are not understood yet. This review covers the new developments in clinical fields and the possible ways in which IVIG could help in the future.
Humans ; Immunoglobulins* ; Immunoglobulins, Intravenous ; Neurology ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

PURPOSE: It has recently been recognized that Helicobacter pylori (H. pylori) is an important factor in the pathogenesis of recurrent abdominal pain (RAP) in children. But, the best treatment for H. pylori infection is still unsettled. This study was performed to evaluate the efficacy of 2 weeks dual therapy with proton pump inhibitor (PPI) and amoxicillin for children with H. pylori infection associated with RAP. METHOD: Our study included 24 children with RAP who were H. pylori positive assessed by CLO test and histologic examination (silver stain). We used the regimen consisted of PPI (omeprazole, 0.7 mg/kg/day) and amoxicillin (50 mg/kg/day) for 2 weeks to eradicate H. pylori. Eradication of H. pylori was determined 4 weeks after the termination of treatment using the CLO test and histologic examination. RESULTS: The endoscopic diagnoses of patients were nodular gastritis in 11 cases, superficial gastritis in 7 cases, peptic ulcer in 4 cases and normal finding in 2 cases. H. pylori was eradicated in 12 cases by omeprazole and amoxicillin dual therapy for 2 weeks and the eradication rate was 50%. In 4 of 12 children in whom H. pylori had not been eradicated with that regimen, we successfully eradicated H. pylori with other regimens of which 2 or 3 drugs among omeprazole, amoxicillin, clarithromycin, colloidal bismuth subcitrate (Denol ) and metronidazole were used. CONCLUSION: The dual therapy with PPI and amoxicillin for 2 weeks had no clear advantage over other regimens for the eradication of H. pylori infection in children. We concluded that the combination of PPI and amoxicillin for 2 weeks is not so good for H. pylori eradicated other commonly used regimens.
Abdominal Pain* ; Amoxicillin* ; Bismuth ; Child* ; Clarithromycin ; Colloids ; Diagnosis ; Gastritis ; Helicobacter pylori* ; Helicobacter* ; Humans ; Metronidazole ; Omeprazole ; Peptic Ulcer ; Proton Pumps* ; Protons*

PURPOSE: Previous studies have shown that neurologic symptoms are dominant in patients with mitochondrial diseases, and most of these patients have seizure-related disorders. The epileptic classification of these patients as Lennox-Gastaut syndrome (LGS) is as high as 25%. This study aimed to investigate the clinical manifestations, diagnoses, treatments, and epilepsy in LGS, which is associated with mitochondrial disease. MATERIALS AND METHODS: A retrospective study was conducted on 372 patients who were diagnosed with mitochondrial disease between 2006 and 2016. Of these 372 patients, 40 patients diagnosed with LGS were selected, and they were classified into two groups based on the history of West syndrome. Patient characteristics were reviewed, and associations between clinical factors and outcomes after the treatment were analyzed. RESULTS: The proportion of individuals with mitochondrial disease with LGS with a history of West syndrome was 32.5%. Among the patients with mitochondrial disease with LGS, neonatal seizure (p=0.029), seizure as the first symptom (p=0.018), and generalized paroxysmal fast activity frequency on electroencephalogram (p=0.018) in the group with a history of West syndrome were statistically significantly high. The first symptom onset (0.6±0.4 yrs vs. 1.6±0.9 yrs, p=0.003) and first seizure onset (0.9±0.7 yrs vs. 3.9±3.1 yrs, p < 0.001) were significantly faster in patients with a history of West syndrome. CONCLUSION: Close monitoring of the medical condition and early intervention might improve the prognosis of individuals with mitochondrial disease with LGS and a history of West syndrome.
Child ; Classification ; Diagnosis ; Early Intervention (Education) ; Electroencephalography ; Epilepsy ; Humans ; Infant ; Infant, Newborn ; Mitochondrial Diseases* ; Neurologic Manifestations ; Prognosis ; Retrospective Studies ; Seizures ; Spasms, Infantile

The combination of central nervous system abnormalities and renal impairment is a notable characteristic of GallowayMowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified.An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.