فهرست مطالب

  • Volume:29 Issue:4, 2019
  • تاریخ انتشار: 1398/06/03
  • تعداد عناوین: 16
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  • Bahareh Bahman Bijari, Zahra Jamali *, Pedram Niknafs, Elaheh Norouzi, Hamid Mosavi, Maryam Mohit, Mohammad Reza Baneshi, Zahra Shahriari, Habibeh Amiresmaeili Pages 1-5
    Background
    Jaundice is a clinical condition that is often observed in pediatric practice and constitutes one of the major issues within the neonatal period. As severe jaundice causes neurotoxicity (kernicterus), the diagnosisandtreatment of severe hyperbilirubinemia is very important. Early prediction will help in early discharge and will prevent hospitalization of babies and mothers. On the other hand, predicting outcome in high risk neonates for subsequent hyperbilirubinemia is required.
    Objectives
    This study investigates the predictive value of umbilical cord serum bilirubin (UCSB) for subsequent hyperbilirubinemia which is a required treatment in healthy term newborns.
    Methods
    In this prospective study, 238 healthy term newborns were inducted into the study. Soon after delivery, the cord blood was sent for serum bilirubin analysis. Newborns were followed up by TCB (transcutaneous bilirubinometry) until the third day post birth and those who showed significantly high TCB values, according to the hour-specific normogram, received the appropriate intervention and treatment. The data were analyzed using t-Test, ROC (receiver operating characteristic) curve, and chi-square tests.
    Results
    Of 238 newborns, 27 (11.4%) cases developed hyperbilirubinemia (bilirubin  15 mg/dL), which required phototherapy. There were no significant differences between the caseswhodid andwhodid not develop hyperbilirubinemia (bilirubin< 15 mg/dL) with respect to various factors that might be associated with the risk of hyperbilirubinemia such as mode of delivery and gender. However, two groups were significantly different in terms of cord bilirubin levels. ROC (receiver operating characteristic) analysis showed that the critical value of umbilical cord serum bilirubin (UCSB) 2.25 mg/dl had high sensitivity (92.6%), good positive and negative predictive value (66% and 69% respectively).
    Conclusions
    UCSB level 2.25 mg/dL can be a useful predictor of hyperbilirubinemia in healthy term newborns on the third day. Therefore, infants with UCSB level 2.25 mg/dL should be followed up strictly either in a hospital or in an outpatient department on the third day, whereas neonates with cord bilirubin level < 2.25 mg/dL are probably safe for early discharge.
    Keywords: Hyperbilirubinemia, Newborns, Phototherapy, Jaundice
  • Zahra Ahmadizadeh, Mohammad Amozade Khalili, Mona Simin Ghalam, MaryamMokhlesin * Pages 6-12
    Background
    Increasing the range of motion in joints is considered to be one of the most long term concerns in the treatment of cerebral palsy (CP).
    Objectives
    The purpose of this study was to investigate the effect of using whole body vibration (WBV) as a new therapeutic approach, with stretching exercises on the range of motion in lower extremities in children with CP.
    Methods
    In this single-blind clinical trial, 20 children aged 4 to 12 years were enrolled. Participants were randomly divided into experimental and control groups. Control group received only passive static stretching exercise and experimental group received passive static stretching with WBV. Exercises were performed 3 times a week for 6 weeks. To collect data, Goniometry, modified Ashworth scale and 6 MinuteWalk Test were used.
    Results
    The results of this study indicated that, stretching withWBV, increases active range of motion in hip flexion, abduction and ankle dorsal flexion and also can improve speed of walking in children with CP.
    Conclusions
    According to the findings, the use of WBV can be considered as an effective treatment in increasing the range of motion and walking speed in CP children.
    Keywords: Whole Body Vibration, Stretching Exercise, Range of Motion, Cerebral Palsy
  • Fatma Yazılıta¸s *, Semanur Özdel, Do˘gan¸Sim¸sek, Esra Ba˘glan, Mehmet Bülbül Pages 13-19
    Objectives
    This study aimed to determine the reliability of novel markers of treatment response in children with familial Mediterranean fever receiving canakinumab treatment, as compared to conventional inflammatory indexes
    Methods
    Clinical and laboratory data for 19 colchicine-resistant Familial Mediterranean Fever patients treated with canakinumab were retrospectively reviewed. Patients with systemic diseases other than familial Mediterranean fever and familial Mediterranean fever related complications were excluded from the study.
    Results
    Following canakinumab treatment there was a non-significant decrease in the neutrophil/ lymphocyte ratio (P = 0.523) and a significant decrease in the platelet/lymphocyte ratio (P = 0.003). There wasn no significant difference in mean platelet volume before and after canakinumab treatment (P = 0.762).
    Conclusions
    The present findings indicate that the platelet/lymphocyte ratio could be considered a more reliable marker than the neutrophil/lymphocyte ratio of response to canakinumab therapy in patients with colchicine-resistant familial Mediterranean fever.
    Keywords: Canakinumab, FMF, Inflammatory Markers
  • Zeynab Amirhamidi, Nasrin Omidvar*, Hassan Eini, Zinab, Azam Doustmohammadian, SaeedEsfandiari, Roshanak Azadi, Homa Haidari Pages 20-30
    Background
    Obesity in school-aged children has become a major public health concern.
    Objectives
    This study aimed to investigate the relationship between weight status, dietary behavior and diet diversity in 10 to 12- year-old students in the city of Tehran.
    Methods
    The sample included 487 students (51.8% girls) aged 10 - 12 years.Weight, height as well as age- and sex-specific BMI z-scores were determined. Demographics (sex, age, birth order and parental age) and socioeconomic characteristics (family size, parents’ educational level, occupation, ethnicity and housing status) were assessed by a questionnaire. Dietary intake was assessed through interview using 3-day 24-hours dietary recalls.
    Results
    Based on the BMI z-scores of the children, 1.9%, 47.9%, 27.2% and 22.8% were thin, normal, overweight and obese, respectively. In boys, mother’s educational level; and among girls, being at post-menarche stage and paternal job position were significantly associated with their weight status (P = 0.08, P = 0.05, P = 0.05, respectively). Boys in the lowest tertile for energy intake were at lower risk of obesity (OR = 0.04; 95% CI: 0.02 - 0.97) and those in the middle tertile of grains diversity score had a greater risk of obesity (OR = 5.84; 95% CI: 1.29 - 26.42) in comparison with those in the highest tertile. In girls, those in the lowest tertile of dairy diversity had higher risk of overweight compared to those in the highest tertile (OR = 9.77; 95% CI: 1.60 - 58.57).
    Conclusions
    Findings indicate that energy intake and dietary diversity can affect the risk of overweight and obesity in preadolescents. Further studies are required to explore a more generalizable relationship between dietary intake and weight.
    Keywords: Children, Obesity, Weight Status, Dietary Diversity Score, Dietary Intake
  • Jiaxi He, ShaochangWu, Na Zhu, Chunjiao Rong, Tielun Yan, Xiumei Yan * Pages 31-37
    Background
    Neuroblastoma, oneof themostprevalent infant malignancies, is heterogeneousandeasily spreads into other organs causing life-threatening consequences. Different characters of organs (such as the germ layers where the organs derived from) exert different growth microenvironments and potentially influence the behavior of metastatic neuroblastoma cells and the prognosis of patients. However, limited information is been known about this in neuroblastoma.
    Objectives
    To compare characteristics of neuroblastoma, primarily originating from the same germ layer (the seeds), in different tissues (microenvironment) derived from different germ layers.
    Methods
    We performed retrospective analysis of SEER (Surveillance, Epidemiology, and End Results) data (1973 - 2014), patients with malignant neuroblastoma were grouped basedonthe primary lesion site (mesoderm-, ectoderm- or endoderm-derived tissue). Baseline demographic and clinical characteristics were compared between groups. Due to difficulties of processing incomplete SEER data, therapeutic method and survival rates were analyzed using cases from another SEER database (2000 - 2014).
    Results
    The analysis included 3701 patients: 1970 (53.2%) in themesodermgroup, 1017 (27.5%) in the ectoderm groupand714 (19.3%) in the endoderm group. Tumor histology differed between groups (P < 0.01): the ectoderm group had mostly neuroblastoma (79.2%), as did the mesoderm group (71.1%), whereas the endoderm group contained mainly olfactory neuroblastoma (94.7%). The tumors (mean size: 69.14  58.37 mm) were most commonly poorly differentiated with local extension, although lymph node invasion and distant metastasis occurred in a minority of cases. Compared with the other groups, the endoderm group had smaller (43.89  20.84 mm) and better-differentiated tumors and a lower prevalence of lymph node invasion and metastasis (P < 0.05). Despite this, overall survival was poorest for the endoderm group (P < 0.05). Radiotherapy improved overall survival in the endoderm and ectoderm groups but worsened overall survival in the mesoderm group (P < 0.05).
    Conclusions
    Malignant neuroblastoma characteristics may be influenced by the tumor microenvironment. In the youngest patients, decision-making regarding the best choice of therapy should be delayed until accurate risk stratification is possible.
    Keywords: Neuroblastoma, Tumorigenesis, Germ Layers, Mesoderm, Ectoderm, Endoderm
  • Hassan Karami, Hamid, Reza Kianifar, Ali Khakshour, Rahim Vakili, Negar Khalighi, Seyedali Jafari, Simin Hiradfar, Elahe Heidari * Pages 38-43
    Background
    Cystic fibrosis (CF) is a multi-systemic disorder with an autosomal recessive inheritance. It is characterized by recurrent pulmonary infections and gastrointestinal problems, particularly pancreas insufficiency.
    Objectives
    The aim of this study was to evaluate growth peptides in CF patients.
    Methods
    This cross sectional study was approved by Mashhad University of Medical Sciences ethical committee. Patients were between six months to 18 years old, who were referred to Dr. Sheikh Hospital subspecialty clinic. They were enrolled for the study after obtaining a written constant. Demographic data was recorded. Of all cases, 10-cc blood sample was obtained and growth peptide levels were determined and measured. Data were analyzed by SPSS version 16 and Mann Whitney and 2 tests were used.
    Results
    Patients’ mean age at onset was 3.4  1.1 months. Overall, 36 (60%) children were male and 24 (40%) were female. Mean body mass index (BMI) was 15.9  3.2 kg/m2. Mean levels of growth hormone was 1.9  0.37 (ng/mL), insulin-like growth factor 1 (IGF1) was 85.89.6 microg/L and insulin-like growth factor binding protein 3 (IGFBP3) level was 1853810643 pg/mL.
    Conclusions
    The mean serum levels of GH, IGF1, and IGFBP3 in CF children with growth failure was lower than children without growth failure. Regarding the relatively high prevalence of growth disorders in children with cystic fibrosis, selected, appropriate, and standard medical treatments could improve the outcome for these children.
    Keywords: Cystic Fibrosis, Growth Peptide, Body Mass Index
  • Renata Markosyan *, Anush Perikhanyan Pages 44-49
    Background
    Type 1 diabetes mellitus (T1DM) is the life-threatening chronic disease if left without appropriate clinical care and self-management. Diabetes places a burden on family life and daily routine that can be reduced by a proper disease management program. Extensive research studies are conducted for the estimation of pediatric quality of life (PedsQL) in the medical and psychosocial care of diabetic children.
    Objectives
    To evaluate the quality of life of children 8 - 12 y/o with T1DM, to compare PedsQL perceived by their parents, to understand influence of gender and other factors on PedsQL and disease management.
    Methods
    Children with T1DM were identified and recruited from the pediatric endocrinology department registries. We used the validated adapted pediatric quality of life inventory 3.0 diabetes module of the child (ages 8 - 12) and parent reports. Obtained scales were compared between children and parents as well as between the two genders.
    Results
    A total of 132 T1DM children and their primary caregivers participated in the study. The mean age of the children was 6.82 2.17 years. Girls had higher (17.821.59) body mass index (BMI) than boys (17.11.95; OR = 0.72; P value 0.021). Mean levels of HbA1C were different in genders: 9  1.78 for girls and 7.93  1.0 for boys (P < 0.001). Diet habits of diabetic children with uneducated primary caregiver have not been changed (P value 0.0138) and these children more often experienced hypoglycemia (P < 0.001). Regular exercising had positive effect on level of HbA1C (7.8  0.82 versus 8.93  1.73) (P value 0.003). In a comparison of PedsQL scores between boys and girls, we have found significant differences in 17 items and in 15 items between child and parent.
    Conclusions
    In 8 - 12 y/o group of T1DM children, girls seem to be more sensitive towards pain and difficulties associated with the disease, boys experienced more difficulties related to treatment compliance and parents’ involvement. Primary caregivers mostly underestimated the child’s PedsQL.
    Keywords: Diabetes Mellitus, Quality, Children
  • Dengxia Zhang, Xuemei Yang, Daokuan Li, Li Li, Dongping Zhang, Yunhua Peng * Pages 50-58
    Background
    The influence of delivery mode on the intestinal flora of newborns and infants with the same age and feeding mode remains elusive.
    Objectives
    To evaluate the effects of different delivery and feeding modes on the intestinal flora of newborns and infants with different ages.
    Methods
    The fecal samples of 108 newborns and infants with different delivery modes, feeding modes and ages were collected from Obstetrics and Pediatrics Departments of our hospital. The compositions and abundances of intestinal flora were analyzed by high-throughput sequencing.
    Results
    The relative abundances of Actinobacteria, Firmicutes, Bacteroidetes and Proteobacteria in MV1 group (0 - 6 months, natural labor and breastfeeding) were 43.73%, 25.78%, 17.93%, and 9.71%, respectively, those of MF1 group (0 - 6 months, cesarean section and breastfeeding) were 40.83%, 44.31%, 3.81%, and 11.01%, respectively, those of YV2 group (6 - 12 months, natural labor and goat milk formula) were 41.44%, 43.84%, 8.38% and 6.27% respectively, those of YF2 group (6 - 12 months, cesarean section and goat milk formula) were 60.76%, 24.85%, 8.66%, and 5.70% respectively, those of YV3 group (12 - 36 months, natural labor and goat milk formula) were 26.58%, 47.73%, 24.07%, and 1.58%, respectively, and those of YF3 group (12 - 36 months, cesarean section and goat milk formula) were 34.77%, 51.94%, 11.10%, and 2.16%, respectively. The cases with the same delivery mode and age and fed with goat milk formula had more diverse intestinal flora and higher abundances of dominant bacteria. Actinobacteria accounted for 62.98% and 43.73% of the bacteria of YV1 group (0 - 6 months, natural labor and goat milk) and MV1 group respectively. Bacteroidetes accounted for 43.84% and 35.71% of the bacteria of YV2 group and NV2 group (6 - 12 months, natural labor and cow milk formula), respectively. For the cases with identical delivery and feeding modes, the composition of intestinal flora significantly changed with increasing age (P < 0.05).
    Conclusions
    The intestinal flora of newborns and infants, especially probiotics, was affected by delivery mode, feeding mode and age. The results provide valuable evidence for improving their health, metabolism and disease prevention.
    Keywords: Natural Labor, Cesarean Section, Intestinal Flora, Newborn, Infant
  • Asieh Ahmadihoseini, Nasrin Omidvar *, Mohsen Nematy, Mohammad Safarian, MaryamSalehi Pages 59-64
    Background
    Food security is one of the important factors that influence health and well-being throughout the life cycle.
    Objectives
    This study aimed to determine the relationship between household (HH) food security status and anthropometric indices at birth and before 6-years-of age among children in a low income community in Mashhad city.
    Methods
    In this cross-sectional study, 240 Iranian HHs which had at least one under 6-year old child were selected through systematic cluster sampling. Height and weight of children were measured. Also, their length and weight at birth were collected from their vaccination certificate. Anthropometric status (based on z-scores) of children were evaluated by WHO Anthro-Plus software.
    Results
    Severe, moderate, and mild food insecurity was observed in 7.1, 20, and 34.2% of the HHs, respectively. A significant association was observed between HH food insecurity and average height of their under 6-year-old children. There was no association between HH food insecurity and children’s measurements at birth (P > 0.05). Comparison of anthropometric status at birth and between 1 to 6 years of age in food secure and insecure groups based on Wilcoxon test, showed a significant difference between z-scores of weight for age (WAZ) and body mass index (BMI) for age (BAZ) in children from food insecure HHs.
    Conclusions
    The results suggest that children in food insecure HHs do not necessarily have abnormal weight and length at birth, but growing up in a food insecureHHmay lead to abnormal anthropometric status. Proper strategies to ensure food security in low income HHs may help to prevent child undernutrition.
    Keywords: Children, Food Security, Anthropometric Status, Undernutrition
  • Atiyeh Feiz, Narjes Amrollahi*, Fereshte Ziayi Pages 65-70
    Background
    Bonding to the tooth structure and fluoride release of the restoration are substantial factors to prevent the caries progression in children.
    Objectives
    The aim of this study was to compare micro tensile bond strength of four glass-containing materials with primary teeth dentin.
    Methods
    In this in-vitro study, 16 extracted primary molar were prepared and disinfected with 0.2% thymol solution. The occlusal box was prepared until a thin enamel wall remained and the dentin exposed at the pulpal floor. This enamel wall played the matrix role for placing the restorative materials. The teeth were randomly divided into 4 groups and restored with resin modified glass ionomer (RMGI), giomer, zirconomer and cention N. The teeth were mounted in acrylic mold and entered into a CNC cutting machine to provide specimens with a thickness of 1  1 mm. The tensile bond strength of the specimens was calculated by micro tensile measuring device. The failure of the samples (adhesive, cohesive, admix) was observed under a stereomicroscope. The data were analyzed using one-way analysis of variance and Fisher’s exact test.
    Results
    Therewasa significant difference between zirconomerandother groups (P< 0.001), also between giomerandother groups (P < 0.001). There was no significant difference in the pattern of the failure among groups, except RMGI and cention N.
    Conclusions
    The micro-tensile bond of the giomer was the strongest, cention N and RMGI were approximately of equal strength, and zirconomer showed the lowest tensile bond strength.
    Keywords: Dentin, Tensile Strength, Primary Teeth
  • Fateme Hosseinabadi, Ali Hekmatnia, Farzaneh Hekmatnia, Aidin Lotfiazar * Pages 71-73
  • Azizollah Yousefi, Mahsa Taghavi Ardakan, Shahrbanoo Nakhaei, Mehri Najafi, NasimBehnoud * Pages 74-78
    Background
    Constipation is a frequent complication in pediatrics, most of which is habitual, comprising 25% of visits in pediatric gastroenterology clinics.
    Objectives
    Themainobject of this studywasto investigate clustering of habitual constipationamongfamilies of pediatric patients.
    Methods
    This case-control study was conducted on families of 150 children< 18 years old with chronic habitual constipation alongside families of 150 healthy children as controls. The cases were enrolled in the study according to the Rome IV criteria for constipation. The parents and siblings were evaluated regarding constipation. Data were analyzed using SPSS-16, 2 and t-test were used for comparison.
    Results
    A total of 300 children and their families participated in the study. Nosignificant differences were found between the study and the control groups in age, sex, or BMI. However, the siblings or parents from the study group had significantly higher rates of constipation compared with the control group.
    Conclusions
    Considering different survey findings, a correlation between “habitual constipation” and “familial background” seems to exist in children. A clear pathophysiological explanation for this phenomenon is not yet available.
    Keywords: Children, Pediatric Constupation, Familial Constupation, Familial Disease
  • Ru, Xin Qiu, Xiao, Ling Ren, Jing Liu *, Jian, Jun Li, Yue, Qiao Gao, Rong, Ming Xia Pages 79-84
    Objectives
    This study investigated the efficacy and safety of bronchoalveolar lavage (BAL) under lung ultrasound (LUS) monitoring for the treatment of meconium aspiration syndrome (MAS).
    Methods
    A total of 120 patients were randomly divided into 2 groups: a BAL group (70 patients) and a control group (50 patients). Patients in the BAL group received an injection of lavage fluid through an endotracheal tube. After each lavage, LUS was performed to assess lung pathological changes. The control group underwent the traditional treatment. The rate of invasive and/or noninvasive ventilator use, time of ventilator use, incidence of pulmonary hypertension of the newborn (PPHN) and/or incidence of pneumothorax, duration of hospitalization of pediatric patients, hospitalization expenses and mortality were compared between the 2 groups.
    Results
    Compared with the control group, MAS patients in the BAL group had (1) a significantly lower rate of invasive ventilator use (reduced by 57.7%, P < 0.001), (2) a significantly shortened duration of invasive ventilator treatment (reduced by 84.6%, P < 0.001), (3) a significantly reduced incidence of PPHN and/or pneumothorax (reduced by 84.6%, P < 0.001), (4) a reduced rate of mortality (from 2% to 0%), (5) a significantly shortened duration of hospitalization (reduced by 30.1%, P < 0.001), (6) significantly reduced hospitalization expenses (reduced by 42.6%, P < 0.001), and (7) stable vital signs during lavage among all patients, with no adverse effects.
    Conclusions
    Treatment of MAS using BAL under LUS monitoring showed remarkable efficacy without adverse effects.
    Keywords: Bronchoalveolar Lavage (BAL), Infant, Newborn, Lung Ultrasound (LUS), Meconium Aspiration Syndrome (MAS), Point-of-Care Lung Ultrasound (POC-LUS)
  • Vahid Alinejad, Ebrahim Hajizadeh *, Aliakbar Rasekhi, Hamid Reza Khalkhali Pages 85-91
    Background
    Child growth impairment (GI) causes much psychological, physical and economic harm to the community while a healthy growth and development at early childhood ensures access to a healthy society.
    Objectives
    This study aimed to evaluate the factors affecting GI of children under 6 years of age by using marginal models inWest Azerbaijan Province, Iran.
    Methods
    In this longitudinal cohort study, 1070 children below 6 years were in a two-stage cluster sampling randomly selected and studied. The growth characteristics of the studied children (height, weight) and their development features (walking, speaking and teething age) were recorded, during a 6-year follow-up. Data were collected by R statistical software and analyzed by using independent marginal model.
    Results
    The results of this study showed that maternal age at the time of birth (P = 0.001) also her educational level (P < 0.05) and occupational status (P = 0.000), birthing method (P = 0.001), child’s gender (P = 0.000), breastfeeding (P = 0.000) and child’s walking age (P = 0.000) had a significant effect on GI.
    Conclusions
    Present study revealed that the demographic factors and child’s walking age have a significant effect on children’s GI. At early childhood, GI influences many domains of individual’s life and subsequently the society status. So, it is recommended that the determinants of this crucial threat to be identified and effective plans to be provided for any problems that may arise at this time.
    Keywords: Child Growth Impairment, Growth, Development, Marginal Models
  • Shaimaa A. M. Abd El Fatah *, John Rene Labib, Nancy A. S. Gomaa, Sally Kamal Ibrahem, MonaAdel Soliman Attia Pages 92-100
    Background
    The study aimed to evaluate the direct effects of packed red blood cells (PRBCs) transfusions on neonatal blood lead levels (BLL) among the neonates admitted to Cairo University Pediatric Hospital (CUPH).
    Methods
    It is a prospective cohort study including fifty-four premature neonates which took place over a period of 6 months starting from January 2018. Baseline and post-transfusion BLL were obtained. Neonatal BLL percent change was calculated to quantify the change levels before and after transfusion.
    Results
    The neonatal BLL after transfusion was elevated one and half timesmorethan that before transfusion. The median neonatal BLL% change was significantly higher in neonates diagnosed with extremely low birth weight and neonatal sepsis. BLL after transfusion showed a positive, moderate and significant relationship with neonatal weight, lead level in blood packs, gestational age, and blood creatinine level respectively. Multiple regression was used to explore the relationship between BLL% change and a number of predictors (e.g. neonatal age, weight, gestational age, number of transfusion times and lead level in blood packs).
    Conclusions
    The study concluded that preterm neonates are at risk of lead exposure hazards due to receiving PRBCs transfusions. Higher lead levels in PRBCs denotes exposure of donors to higher lead levels and accordingly the recipient preterms.
    Keywords: Preterm Neonates, Packed Red Blood Cells, Blood Transfusions, Blood Lead Level
  • Ali Reza Tavasoli *, Nejat Mahdie, Zahra Rezaei, Sareh Hosseinpour, ShahramSadeghvand, Mahmoud Reza Ashrafi, Houman Alizadeh, Mohammad Barzegar, Reyhaneh Kameli Pages 101-107
    Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a demyelination leukodystrophy, is usually characterized by early-onset macrocephaly and gradually progressive motor and mild mental deterioration. Variable clinical expression has been reported in MLC especially in adult cases. In this study, a multi affected family with variable phenotypes including an asymptomatic adult individual is reported to expand the clinical spectrum of MLC. A seven-year old boy was referred to our hospital due to macrocephaly and gait disturbance. According to brain magnetic resonance imaging (MRI) findings, molecular studies were done to confirm the probable diagnosis of MLC in index case followed by family segregation analysis. A homozygous splice site variant, c.177+1G>T in MLC1 gene was found in proband, his mother and two aunts. Aunts were clinically affected but his mother had no clinical symptoms despite bi-allelic mutation in MILC1. The clinical data and available MRI findings were reviewed for these cases. A comprehensive searchwasconductedonclinical variations of MLC. Phenotypic variability and/or reduced penetrance are important phenomena in MLC.We extended phenotypic variation in MLC by reporting an asymptomatic adult case with a known pathogenic mutation in MLC1 gene.
    Keywords: MLC, Megalencephalic Leukoencephalopathy, Subcortical Cysts, Splice-Site Mutation