The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family

How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari Hb, Jabbehdari S, Alizadeh M, Alizadeh Gh, Nejad Biglari Hm, Sanii S. The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family. Iran J Child Neurol. Winter 2016; 10(1):61-64.AbstractObjectiveAdrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder.Materials & MethodsThe patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder was confirmed by neuroimaging and clinical findings along with genetic and neurometabolic assessment at Reference Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of populous family with adrenoleukodystrophy.ResultsAll of the patients were one populous family with high rate of consanguineous marriages. This disorder was confirmed by genetic assessment, VLCFA and brain MRI.c.253_254insC, p.R85Pfs112* was found in heterozygote state and the VLCFA assessment showed the typical pattern for adrenoleukodystrophy/ adrenomyeloneuropathy. This diagnosis was in agreement with the family history and the clinical history of the patient. Since there have been a number of cases in patient’s family in the past, so intensive follow-up on the family especially detection the female members of the family of childbearing age was recommended. The amount of C-26, C24/C22 and C26/C22 was elevated. All patients with the same genotype had wide ranges of clinical presentation.ConclusionEarly diagnose of this disease might help us for early intervention and prenatal diagnosis for the disease in next siblings

Acute transverse myelitis of childhood due to novel coronavirus disease 2019: The first pediatric case report and review of literature

The global coronavirus disease 2019 (COVID-19) pandemic appears to have some streaks of severity in pediatrics. These streaks include variable signs of respiratory distress, a new entity called multisysteminflammatory syndrome, and some evidences of neurological symptoms involving both central and peripheral nervous systems.Here, we described the first pediatric patient with COVID-19 who presented with acute transverse myelitis. An 11-year-old otherwise healthy girl presented to our clinic with acute onset of lower limbs paresis, urinary and fecal retention, alongside epigastric pain, and fever for 3 days. A neurological examination revealed a severe flaccid paraplegia in her lower limbs associated with a sensory level at T5. She was evaluated systematically for all probable causes of her symptoms, and finally, due to having a positive nasopharyngeal PCR test, she was considered to suffer from post-COVID-19 transverse myelitis. She underwent intravenous-immunoglobulin, methylprednisolone pulse, and other supportive cares without obvious results. Therefore, she underwent seven sessions of plasma exchange with little effects on muscle strength. The focal inflammation and injury of the spinal cord, otherwise known as transverse myelitis, have a wide array of potential etiologies. Transverse myelitis has been well documented to be the result of viral and bacterial infections. We believe our patient was not involved in a cytokine storm status due to good CRP, IL-6 and Ferritin levels. Albeit, we cannot certainly consider the patient to have a direct viral impact or involved in a late immunity process. To our knowledge, this is the first report of TM in the field of pediatrics occurred after COVID-19. Thus, this is critical to note that children can present with some severe types of COVID-19

The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric patients

How to Cite This Article: Jabbehdari S, Rahimian E, Jafari N, Sanii S, Khayatzadeh Kakhki S, Nejad Biglari H. The Clinical Features and Diagnosis of Metachromatic Leukodystrophy: A Case Series of Iranian Pediatric Patients. Iran J Child Neurol. Summer 2015;9(3):57-61.AbstractObjectiveMetachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolicdiseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency.Materials & MethodsEighteen patients diagnosed as metachromatic leukodystrophy in the NeurologyDepartment of Mofid Children’s Hospital in Tehran, Iran between 2010 and2014 were included in our study. The disorder was confirmed by clinical,EMG-NCV, arylsulfatase A enzyme checking and neuroimaging findings alongwith neurometabolic and genetic assessment from reference laboratory in Iran.We assessed age, gender, past medical history, developmental status, clinicalmanifestations, and neuroimaging findings of 18 patients with metachromaticleukodystrophy.ResultsFrom 18 patients, 80% were offspring from consanguineous marriages. A familyhistory of metachromatic leukodystrophy disease was positive for four patients.Twelve patients had late infantile form of this disorder and six patients had juvenile form. A history of tonic type seizure was positive in 20% of the patients and tonic spasm was confirmed with clinical information. Electromyographgraphy (EMG) in 96% of patients was abnormal with demyelinating sensorimotor neuropathy pattern. MRI in all patients showed the leukodystrophic pattern as arcuate fibers sparing and subcortical rim in white matter and periventricular involvement. Our diagnosis was confirmed by EMG-NCV findings with sensorimotor neuropathy pattern and the assessment of arylsulfatase A enzyme function. ConclusionMLD is an inheritance metabolic disorder, which was confirmed by theassessment of arylsulfatase A enzyme function, peripheral blood leukocyte thatassessed in a referral laboratory in Iran

Production of gold nanoparticles by Streptomyces djakartensis isolate B-5

Objective(s): Biosynthesis of gold nanoparticles (NGPs) is environmentally safer than chemical and physical procedures. This method requires no use of toxic solvents and synthesis of dangerous products and is environmentally safe. In this study, we report the biosynthesis of NGPs using Streptomyces djakartensis isolate B-5. Materials and Methods: NGPs were biosynthesized by reducing aqueous gold chloride solution via a Streptomyces isolate without the need for any additive for protecting nanoparticles from aggregation. We characterized the responsible Streptomycete; its genome DNA was isolated, purified and 16S rRNA was amplified by PCR. The amplified isolate was sequenced; using the BLAST search tool from NCBI, the microorganism was identified to species level. Results: Treating chloroauric acid solutions with this bacterium resulted in reduction of gold ions and formation of stable NGPs. TEM and SEM electro micrographs of NGPs indicated size range from 2- 25 nm with average of 9.09 nm produced intracellular by the bacterium. SEM electro micrographs revealed morphology of spores and mycelia. The amplified PCR fragment of 16S rRNA gene was cloned and sequenced from both sides; it consisted of 741 nucleotides. According to NCBI GenBank, the bacterium had 97.1% homology with Streptomyces djakartensis strain RT-49. The GenBank accession number for partial 16S rRNA gene was recorded as JX162550. Conclusion: Optimized application of such findings may create applications of Streptomycetes for use as bio-factories in eco-friendly production of NGPs to serve in demanding industries and related biomedical areas. Research in this area should also focus on the unlocking the full mechanism of NGPs biosynthesis by Streptomycetes

Efficiency of Electrocoagulation for Removal of Reactive Yellow 14 from Aqueous Environments

Background & Aims of the Study: Discharge of textile industry colored wastewater without enough treatment into natural water resources cause serious pollution. Most of the conventional wastewater treatment methods are not effective enough to remove these dyes from wastewater. In this study, efficiency of electrocoagulation process with iron electrodes for treatment of Reactive Yellow 14 dye from synthetic solution has been studied and concluded. Materials & Methods: This experiment was conducted in a batch system with a volume of 2 L that had been equipped with 4 iron electrodes. The effect of operating parameters, such as voltage, time of reaction, initial dye concentration, and interelectrode distance on the dye removal efficiency was investigated. Results: In optimum condition (pH 2, voltage 40 V, electrolysis time 25 min, and interelectrode distance 1 cm), electrocoagulation method was able to remove 99.27% of Reactive Yellow 14 from synthetic solution. Conclusions: Electrocoagulation process by iron electrode is an efficient method for removal of reactive dyes from colored solution