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INTRODUCTION: The current multi-center, randomized, double-blind study was conducted among children with cerebral palsy (CP) to assess the safety and efficacy of umbilical cord blood mononuclear cell (UCB-MNC). We performed the diffusion tensor imaging to assess the changes in the white matter structure. METHODS: Males and females aged 4 to 14 years old with spastic CP were included. Eligible participants were allocated in 4:1 ratio to be in the experimental or control groups; respectively. Individuals who were assigned in UCB-MNC group were tested for human leukocyte antigen (HLA) and fully-matched individuals were treated with UCB-MNCs. A single dose (5 × 106 /kg) UCB-MNCs were administered via intrathecal route in experimental group. The changes in gross motor function measure (GMFM)-66 from baseline to one year after treatment were the primary endpoints. The mean changes in modified Ashworth scale (MAS), pediatric evaluation of disability inventory (PEDI), and CP quality of life (CP-QoL) were also evaluated and compared between groups. The mean changes in fractional anisotropy (FA) and mean diffusivity (MD) of corticospinal tract (CST) and posterior thalamic radiation (PTR) were the secondary endpoints. Adverse events were safety endpoint. RESULTS: There were 72 included individuals (36 cases in each group). The mean GMFM-66 scores increased in experimental group; compared to baseline (+ 9.62; 95%CI: 6.75, 12.49) and control arm (ß: 7.10; 95%CI: 2.08, 12.76; Cohen's d: 0.62) and mean MAS reduced in individuals treated with UCB-MNCs compared to the baseline (-0.87; 95%CI: -1.2, -0.54) and control group (ß: -0.58; 95%CI: -1.18, -0.11; Cohen's d: 0.36). The mean PEDI scores and mean CP-QoL scores in two domains were higher in the experimental group compared to the control. The imaging data indicated that mean FA increased and MD decreased in participants of UCB-MNC group indicating improvements in white matter structure. Lower back pain, headaches, and irritability were the most common adverse events within 24 h of treatment that were related to lumbar puncture. No side effects were observed during follow-up. CONCLUSIONS: This trial showed that intrathecal injection of UCB-MNCs were safe and effective in children with CP. TRIAL REGISTRATION: The study was registered with ClinicalTrials.gov ( NCT03795974 ).
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Parálisis Cerebral , Adolescente , Niño , Preescolar , Imagen de Difusión Tensora/métodos , Método Doble Ciego , Femenino , Sangre Fetal , Humanos , Masculino , Calidad de VidaRESUMEN
To assess the efficacy of intralesional injection of bleomycin for treatment of pediatric lymphangiomas in head and neck region in Iranian population. This prospective study was conducted from February 2017 to March 2019. All consecutive patients presented to pediatric otolaryngology clinic in Children Medical Center Hospital in Tehran with macrocystic lymphangiomas of head neck were enrolled in this study. Informed consent was taken from parents. Bleomycin was diluted to a concentration of 1 mg/ml by normal saline and a dose of 0.5 mg/kg was injected into the lymphangioma. Ultrasonography was performed before and after each injection at 1, 3, 6 and 12 months. Age, gender, number of injections, size of lymphangioma and complications including fever, discoloration and respiratory problems were recorded. A total of 20 patients were assessed. Mean age at first injection was 31.9 months. Average reduction in size was 84%. Complete disappearance of mass was observed in 65% (13/20) of patients. Twenty-five percent (5/20) of patients had more than 50% reduction in size. Ten percent (2/20) had unsatisfactory results. Three patients developed transient erythema or swelling of injection site, but none of the patients had any respiratory problem. Intralesional injection of bleomycin is an effective modality to use as a first-line treatment of macrocystic head and neck lymphangiomas in Iranian pediatric population.
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INTRODUCTION: Appendicitis is one of the most common paediatric surgical emergencies occurring in about 7% of healthy children. To make a definitive diagnosis preferably avoiding unnecessary X-ray radiation exposure, ultrasound is the ideal modality. The aim of this study is to evaluate the diagnostic value of sonographic findings in children with acute appendicitis and comparing them with surgical findings to demonstrate the safety, simplicity and accuracy of this procedure in emergency departments as the first diagnostic procedure. MATERIALS AND METHODS: One hundred and eight children aged 1-15 years suspected of acute appendicitis in our tertiary hospital emergency department enrolled the study. Patients presenting as acute abdomen suspected as having acute appendicitis underwent abdominal ultrasonography (US) at first. Sonographic findings were compared to surgical and pathologic results, and sensitivity and specificity of each sonographic parameter in paediatric appendicitis were evaluated. RESULTS: The analysis of sonographic results showed that 67.6% of patients had acute appendicitis, 13.9% had perforated appendicitis and 18.5% had normal appendix. On the other hand, there were acute appendicitis in 63.9% of patients, perforated appendicitis in 12% and normal appendix in 8.3% in surgical reports. Sensitivity of uncompressible appendicitis, appendicitis, maximal outer diameter (MOD) above 6 mm, maximal mural thickness (MMT) above 3 mm, round appendix was 98.68%, 28.04%, 94.74%, 61.84% and 68.42%, respectively. Specificity of incompressible appendicitis, appendicitis, MOD above 6 mm, MMT above 3 mm, round appendix was 64.71%, 96.15%, 64.71%, 82.35% and 94.12%, respectively. Overall sensitivity and specificity of US in appendicitis were 97.56% and 69.23%, respectively. CONCLUSION: According to the findings of this study, sensitivity of US in diagnosing appendicitis is higher than other studies, but its specificity was lower. Ultrasonographic accuracy and efficacy to diagnose acute appendicitis in children are high enough to allow clinicians to do it as an imaging modality of first choice, and also, in problematic cases to assist correct clinical diagnosis avoiding unnecessary X-ray exposure, decreasing negative appendectomies, decreasing perforation rate and lowering the cost of patients. Furthermore, negative US do not justify immediate computed tomography because clinical re-evaluation and a second US can help greatly the clinicians in the correct diagnosis.
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Apendicitis , Apéndice , Enfermedad Aguda , Apendicectomía , Apendicitis/diagnóstico por imagen , Apendicitis/cirugía , Niño , Humanos , UltrasonografíaRESUMEN
RIN2 syndrome also known as MACS syndrome is a rare autosomal recessive connective tissue disorder caused by RIN2 mutations and is accompanied by following clinical features: macrocephaly, coarsening of facial features, downward slanting palpebral fissures, Puffy droopy eyelids, full everted lips, soft redundant skin especially in face, gum hypertrophy, irregular dentition, sparse scalp hair, skeletal problems, joint hypermobility and scoliosis. RIN2 gene encodes the RAS and RAB interactor 2 and biallelic mutations in this gene cause cell trafficking dysfunction. Here we reported the eleventh patient of RIN2 syndrome in a 4 yr-old boy, from Tehran, Iran as the youngest reported patient so far. Whole exome sequencing revealed a novel frameshift homozygous variant of NM_001242581.1: c.2251dup; p.(Leu751Profs*9) in RIN2 gene. In addition to the previously reported symptoms for the RIN2 syndrome, white matter abnormalities in his brain MRI were noticed. Our findings expand the clinical spectrum of MACS syndrome due to mutation in RIN2 gene.
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Alopecia/genética , Proteínas Portadoras/genética , Enfermedades del Tejido Conjuntivo/genética , Cutis Laxo/genética , Factores de Intercambio de Guanina Nucleótido/genética , Leucoencefalopatías/genética , Megalencefalia/genética , Escoliosis/genética , Adulto , Alopecia/complicaciones , Alopecia/diagnóstico por imagen , Alopecia/patología , Preescolar , Enfermedades del Tejido Conjuntivo/complicaciones , Enfermedades del Tejido Conjuntivo/diagnóstico por imagen , Enfermedades del Tejido Conjuntivo/patología , Cutis Laxo/complicaciones , Cutis Laxo/diagnóstico por imagen , Cutis Laxo/patología , Cara/diagnóstico por imagen , Cara/patología , Femenino , Mutación del Sistema de Lectura/genética , Predisposición Genética a la Enfermedad , Homocigoto , Humanos , Leucoencefalopatías/complicaciones , Leucoencefalopatías/diagnóstico por imagen , Leucoencefalopatías/patología , Imagen por Resonancia Magnética , Masculino , Megalencefalia/complicaciones , Megalencefalia/diagnóstico por imagen , Megalencefalia/patología , Linaje , Escoliosis/complicaciones , Escoliosis/diagnóstico por imagen , Escoliosis/patología , Sustancia Blanca/anomalías , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patologíaRESUMEN
Creatine is the main source of energy for the brain. Primary creatine deficiency syndromes (PCDSs) are inborn error of metabolism of creatine synthesis. Symptoms of central nervous system involvement are the most common clinical manifestations in these disorders. We reviewed medical records of all genetically confirmed patients diagnosed by whole exome sequencing who were referred to Myelin and Neurodegenerative Disorders Clinic, Children's Medical Center, Tehran, Iran, from May 2016 to Dec 2018. A literature review was conducted on clinical and genomic variability of PCDS to compare our patients with previously reported cases. We report two patients with creatine deficiency among a cohort of 550 registered cases out of which 200 patients had a genetically confirmed neurodegenerative disorder diagnosis. The main complain in the first patient with creatine transporter (CRTR) deficiency was seizure and genetic study in this patient identified a novel hemizygote variant of "c.92 > T; p.Pro31Leu" in the first exon of SLC6A8 gene. The second patient with guanidinoacetate methyltransferase (GAMT) deficiency had an unknown motor and speech delay as the striking manifestation and molecular assay revealed a novel homozygote variant of "c.134G > A; p.Trp45*" in the first exon of GAMT gene. PCDSs usually are associated with nonspecific neurologic symptoms. The first presented case had a mean delayed diagnosis of 5 years. Therefore, in children with unexplained neurologic features including developmental delay and/or regression, mental disability and repeated seizures without any significant findings in metabolic studies, PCDSs can be considered as a differential diagnosis and molecular analysis can be helpful for the precise diagnosis and treatment.
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Encefalopatías Metabólicas Innatas/diagnóstico , Encefalopatías Metabólicas Innatas/genética , Creatina/deficiencia , Guanidinoacetato N-Metiltransferasa/deficiencia , Trastornos del Desarrollo del Lenguaje/diagnóstico , Trastornos del Desarrollo del Lenguaje/genética , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Discapacidad Intelectual Ligada al Cromosoma X/genética , Trastornos del Movimiento/congénito , Proteínas del Tejido Nervioso/genética , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática/deficiencia , Niño , Preescolar , Creatina/genética , Diagnóstico Tardío , Discapacidades del Desarrollo/genética , Guanidinoacetato N-Metiltransferasa/genética , Humanos , Masculino , Diagnóstico Erróneo , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/genética , Linaje , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática/genética , Convulsiones/genéticaRESUMEN
BACKGROUND: Ribonucleases (RNases) are crucial for degradation of ribosomal RNA (rRNA). RNASET2 as a subtype of RNASEs is a 256 amino acid protein, encoded by RNASET2 gene located on chromosome six. Defective RNASET2 leads to RNASET2-deficient leukoencephalopathy, a rare autosomal recessive neurogenetic disorder with psychomotor delay as its main clinical symptom. The clinical findings can be similar to congenital cytomegalovirus (CMV) infection and Aicardi-Goutieres syndrome (AGS). METHODS: Herein, we presented a patient with motor delay, neurological regression, infrequent seizures and microcephaly at 5 months of age. Brain imaging showed white matter involvement, calcification and anterior temporal cysts. Basic metabolic tests, serum and urine CMV polymerase chain reaction (PCR) were requested. According to clinical and imaging findings, screening of RNASET2 and RMND1 genes were performed. The clinical data and magnetic resonance imaging (MRI) findings of previous reported individuals with RNASET2-deficient leukodystrophy were also reviewed and compared to the findings of our patient. RESULTS: Brain MRI findings were suggestive of RNASET2-deficient leukoencephalopathy, AGS and CMV infection. Basic metabolic tests were normal and CMV PCR was negative. Molecular study revealed a novel homozygous variant of c.233C > A; p.Ser78Ter in exon 4 of RNASET2 gene compatible with the diagnosis of RNASET2-deficient leukoencephalopathy. CONCLUSIONS: RNASET2-deficiency is a possible diagnosis in an infant presented with a static leukoencephalopathy and white matter involvement without megalencephaly. Due to overlapping clinical and radiologic features of RNASET2-deficient leukoencephalopathy, AGS and congenital CMV infections, molecular study as an important and helpful diagnostic tool should be considered to avoid misdiagnosis.
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Enfermedades Autoinmunes del Sistema Nervioso/diagnóstico , Infecciones por Citomegalovirus/diagnóstico , Leucoencefalopatías/diagnóstico , Malformaciones del Sistema Nervioso/diagnóstico , Enfermedades Autoinmunes del Sistema Nervioso/genética , Enfermedades Autoinmunes del Sistema Nervioso/metabolismo , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismo , Preescolar , Infecciones por Citomegalovirus/genética , Infecciones por Citomegalovirus/metabolismo , Femenino , Humanos , Leucoencefalopatías/genética , Leucoencefalopatías/metabolismo , Imagen por Resonancia Magnética , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/metabolismo , Embarazo , Ribonucleasas/genética , Ribonucleasas/metabolismo , Proteínas Supresoras de Tumor/genética , Proteínas Supresoras de Tumor/metabolismoRESUMEN
Leukodystrophies are heterogeneous group of genetic white matter disorders with a wide range of neurologic and systemic manifestations. Defects in genes encoding aminoacyl tRNA (transfer ribonucleic acid) synthetase enzymes (aaRSs) are recently identified as the etiology of some leukodystrophies. Herein, we described two unrelated children referred to Children's Medical Center, Tehran, Iran, with developmental delay, nystagmus, seizures, psuedo-bulbar palsy and dystonia. Whole exome sequencing (WES) in both patients identified a homozygous (c.2T > C) variant in exon one of RARS gene, encoding cytoplasmic arginyl-tRNA synthetase. Our finding was confirmed by segregation analysis. In silico analyses of the c.2T > C variant showed its possible pathogenic role due to the absence of the start codon. Severe hypomyelination was the common neuroimaging finding of both cases. Spinal cord involvement was found in one of our patients which was not previously reported in studies. We, therefore, showed that RARS-related hypomyelination might affect spinal cord.
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Aminoacil-ARNt Sintetasas/genética , Variación Genética/genética , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/diagnóstico por imagen , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/genética , Médula Espinal/diagnóstico por imagen , Aminoacil-ARNt Sintetasas/química , Niño , Preescolar , Femenino , Humanos , Masculino , Estructura Secundaria de ProteínaRESUMEN
A tumefactive lesion of central nervous system (CNS) is defined as a mass-like lesion with a size greater than 2 cm in brain detected by magnetic resonance imaging (MRI). Neuroimaging may help to distinguish the nature of a tumefactive lesion and therefore, can prevent an unnecessary brain biopsy. Here we emphasized on determining the nature of a CNS tumefactive lesions with the help of MRI and more explanations about demyelinating lesions with focus on Schilder and Balo diseases as two multiple sclerosis variants. We have reported here two boys of 10 and 8 years of age respectively of multiple sclerosis (MS) variants who presented with acute neurologic complications to our hospital as one of the two referral children hospital in Tehran, Iran. Tumefactive demyelinating lesions can be considered a separate entity that itself can contain Schilder disease, Balo disease, some cases of acute disseminated encephalomyelitis (ADEM) or classic MS. MRI can help to establish a diagnosis of a tumefactive lesion and to differentiate among different underlying etiologies.
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OBJECTIVE: Various degrees of aortic valve rotation may be seen in individuals with no history of congenital cardiovascular malformations, but its association with aortic sizes has not been studied. METHODS: Gated computed tomographic (CT angiograms in 217 patients were studied (66.7±15; 22-97 years old)). Aortic diameters were determined at 5 anatomic locations. The length of the aorta from sinus to left subclavian artery was measured. The angle of valve rotation was recorded by measuring the angle between a line connecting the midpoint of the non-coronary sinus to the anterior commissure and another line along the interatrial septum. Rotation angles were correlated with aortic measurements. Patients were separated into two groups based on aortic sizes and into three groups based on age. The threshold for aortic dilatation was set at maximum ascending aorta diameter ≥40mm (≥21mm body surface area [BSA] indexed). RESULTS: No significant difference in rotation angles was seen between the three age groups or between genders. Rotation angles were significantly correlated with maximal, average, and BSA adjustment of the aortic root and ascending aortic measurements. The aortic root angles were significantly different between the dilated versus nondilated aortas. There was no significant association between the rotation angles and age, length of ascending aorta, or diameters of descending aorta. Multivariate adaptive regression splines showed 25° of aortic root rotation as the diagnostic cut off for ascending aorta dilation. Above the 25° rotation, every 10° of increasing rotation was associated with a 3.78±0.87mm increase in aortic diameter (p<0.01) and a 1.73±0.25 times increased risk for having a dilated aorta (p<0.01). CONCLUSION: Rotation angles of the aortic valve may be an independent non-invasive imaging marker for dilatation of the ascending aorta. Patients with increased rotation angle of the aortic valve may have higher risk for development or acceleration of an ascending aortic dilatation.
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Enfermedades de la Aorta/diagnóstico por imagen , Válvula Aórtica/anomalías , Válvula Aórtica/diagnóstico por imagen , Angiografía por Tomografía Computarizada , Electrocardiografía , Rotación , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
We present a 7 yr old boy afflicted with super-refractory seizure that responded poorly to antiepileptic drugs and sustained a long course of hospitalization and complications of high doses of medications as well as longstanding stay in hospital. The differential diagnoses were, fever-induced refractory epileptic encephalopathy (FIRES), and infectious and autoimmune encephalitis. However, work-ups had not revealed any evidence of any specific diagnosis, so we assumed that he was afflicted by viral infectious encephalitis as he had, fever, vomiting, and prodromal symptoms of infectious (most probably viral) disease prior to onset of the seizure attacks.
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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) (MIM #604004) is a rare autosomal recessive neurological disorder characterized by macrocephaly, motor and cognitive decline, ataxia, spasticity and occasional seizures. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen white matter of the cerebral hemispheres and subcortical cysts in the anterior temporal and frontoparietal region. Mutations in MLC1(22q13.33) and GLIALCAM have been identified in patients with MLC. Mutations in MLC1 account for approximately 75% of the cases. MLC was suspected in eighteen Iranian patients from sixteen families based on positive clinical findings including macrocephaly beginning in the first year, neurocognitive deterioration, seizure or loss of consciousness after minor head trauma. All except two were born to consanguineous parents. Brain MRI images were compatible with MLC and confirmed the diagnosis. Sequencing of entire coding region of MLC1 was performed for seventeen patients and mutations in MLC1 were detected in all of them. Eight novel mutations and seven previously reported mutations were identified. This report shows that MLC is relatively common in Iranian population, as expected for rare diseases with high inbreeding, with a surprisingly high frequency of novel mutations.
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Quistes/genética , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/genética , Proteínas de la Membrana/genética , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Irán , Masculino , Datos de Secuencia Molecular , Mutación , Adulto JovenAsunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Proteínas de Unión al ADN/genética , Homocigoto , Mutación , Factores de Transcripción/genética , Alelos , Alopecia/genética , Encéfalo/patología , Preescolar , Análisis Mutacional de ADN , Femenino , Sitios Genéticos , Humanos , Hipertelorismo/genética , Imagen por Resonancia Magnética , Linaje , Fenotipo , Piel/patología , Cráneo/anomalías , Cráneo/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
Communication between subarachnoid and perlymphatic spaces can be due to a deficiency of lamina cribrosa (stapes gusher). Recognition of the condition may alter the course of treatment that can avoid perilymph gushing. A five-year-old boy presented with a history of congenital hearing loss and recurrent meningitis. The computed tomography (CT) of the temporal bone showed severe bilateral dysplasia in the inner ears in favor of gusher disease.
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OBJECTIVE: To find the association between mound appearance on ultrasound imaging and successful correction of vesicoureteral reflux (VUR). METHODS: We retrospectively reviewed the ultrasound and voiding cystourethrogram (VCUG) results of patients who underwent dextranomer/hyaluronic acid injection via the hydrodistention injection technique (HIT) or HIT with concomitant autologous blood injection (HABIT) for 5 years postoperatively. VUR resolution at postoperative VCUG was considered as a success. Retained volumes of implants were measured and compared between HABIT and HIT and successful and failed treatments. Presence of mound on ultrasound imaging was also evaluated as a predictor of VUR resolution on VCUG. RESULTS: Measured mound volume was significantly higher in treatments that were successful than in those that were failures (P <.05). During 5-year follow-up, measured mound volumes in the HABIT group were significantly higher than in the HIT group (P <.05). Sensitivity, specificity, positive predictive value, and negative predictive value of mound visualization on the first-month sonography to predict success were 97.7%, 21.5%, 89.6%, and 60%, respectively. These results were dramatically changed for the 50 patients with further VCUG after 1 year of follow-up, with 95.7% sensitivity, 37.0% specificity, 54.0% positive predictive value, and 90.9% negative predictive value. CONCLUSION: Reduction or absence of the mound after implantation is more frequent among failed treatments in which visualization of the mound on postoperative sonography can predict VUR resolution. Autologous blood injection concomitant with dextranomer/hyaluronic acid implantation results in better immediate and long-term mound preservation, which could possibly be the reason for the higher success rate in HABIT group.
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Transfusión de Sangre Autóloga , Dextranos/administración & dosificación , Ácido Hialurónico/administración & dosificación , Reflujo Vesicoureteral/diagnóstico por imagen , Reflujo Vesicoureteral/terapia , Niño , Cistoscopía , Humanos , Valor Predictivo de las Pruebas , Falla de Prótesis , Curva ROC , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento , Ultrasonografía , UrografíaRESUMEN
The current study was performed to assess the diagnostic accuracy of ultrasound compared to CT scan as a gold standard in the diagnosis of craniosynostosis. 44 infants (17 girls) under 1 year old, clinically suspected to have craniosynostosis, were first sonographically examined by a pediatric radiologist and were later referred to another blinded pediatric radiologist to examine CT scan with 3D reconstructed images of skull. Sensitivity, specificity, positive and negative predictive values of ultrasound versus CT scan were 96.9%, 100%, 100%, and 92.3%, respectively. The high specificity of ultrasound helps to correctly rule out craniosynostosis in clinically suspected cases and thus, can prevent unnecessary exposure of healthy infants to CT scan ionizing radiation.
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Craneosinostosis/diagnóstico por imagen , Femenino , Humanos , Lactante , Recién Nacido , Irán , Masculino , Radiografía , Sensibilidad y Especificidad , UltrasonografíaRESUMEN
OBJECTIVE: Central Nervous system (CNS) malformations are one of the most important causes of global developmental delay (GDD) in Children. About one percent of infants with GDD have an inherited metabolic disorder and 3-10 percent have a chromosomal disorder. This study aimed to survey the frequency of brain structural anomalies and their subtypes among the variety of etiologic factors in children with GDD in our patients. MATERIALS & METHODS: This study used the results of neuroimaging studies [unenhanced brain Magnetic Resonance Imaging (MRI)] of all children who had been referred for evaluation of GDD to outpatient Clinic of Pediatric neurology at Children's Medical Center affiliated to Tehran University of Medical Science between September 2009 and September 2010. RESULTS: In this study, unenhanced brain MRI was performed on 405 children, of which 80 cases (20 percent) had brain structural anomalies. In 8.7 percent of the cases, previous history of brain structural disorders existed in other children of the family and 20 percent of mothers had inadequate consumption of folate during pregnancy. CONCLUSION: Based on the results of this study, unenhanced cranial MRI seems to be a fundamental part of evaluation in all children with GDD. Adequate folate consumption as prophylaxis as well as genetic counseling can be worthy for high-risk mothers who have previous history of CNS anomaly or miscarriage to avoid repeated CNS anomalies in their next pregnancies.
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Ultrasound is a non-invasive, available, low-cost modality and is free of side effects. The current study has been performed to assess the diagnostic accuracy of ultrasound compared to CT scan as a gold standard in the diagnosis of craniosynostosis. 44 infants (17 girls) under 1 year old, clinically suspected to have craniosynostosis, were first sonographically examined by a pediatric radiologist and were later referred to another pediatric radiologist to examine CT scan with 3D reconstructed images of skull as gold standard modality. The second radiologist was blinded to results of the ultrasound. Sensitivity, specificity, positive and negative predictive values of ultrasound versus CT scan were 96.9%, 100%, 100%, and 92.3%, respectively. The high specificity of ultrasound helps to correctly rule out craniosynostosis in clinically suspected cases and thus, can prevent unnecessary exposure of healthy infants to CT scan ionizing radiation.
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Fetus in fetu is an extremely rare condition in which a fetus or fetus-like structure with a vertebral axis is seen in the body of its twin. This paper presents a case of fetus in fetu in a two- day-old female newborn who was referred for an abdominal mass, biliary vomiting, and feeding intolerance. After plain abdominal X-ray and ultrasonography, the patient underwent abdominal surgery with the primary diagnosis of teratoma or fetus in fetu. We found a retroperitoneal mass that consisted of double fetus in fetu and a separate undetermined mass. The pathologic examination confirmed double fetus in fetu and revealed a separate immature teratoma. She was discharged from the hospital after seven days in a healthy and normal condition. The level of serum alpha-fetoprotein was normal after three months of follow-up.
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Feto/anomalías , Teratoma/patología , Gemelos Monocigóticos , Femenino , Humanos , Recién Nacido , Teratoma/diagnóstico , Teratoma/cirugía , alfa-Fetoproteínas/análisisRESUMEN
Appendiceal intussusception is an uncommon form of intussusception. Most of the literature regarding appendiceal intussusception discusses the colonoscopic diagnosis or surgical treatment of the condition. Sonographic findings have rarely been described. We present a case of preoperative sonographic diagnosis of appendiceal intussusception.
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Apéndice/diagnóstico por imagen , Intususcepción/diagnóstico por imagen , Dolor Abdominal/etiología , Apéndice/cirugía , Ciego/diagnóstico por imagen , Niño , Medios de Contraste , Enema , Humanos , Intususcepción/cirugía , Masculino , Cuidados Preoperatorios , Ultrasonografía IntervencionalRESUMEN
Bronchiectasis is a chronic debilitating condition characterized by abnormal dilated thick-walled bronchi. To investigate humoral immune function in bronchiectatic patients, this study was performed. Forty patients with established diagnosis of bronchiectasis, who were referred from two tertiary care pulmonology centers in Tehran, were investigated in this study. Immunoglobulin isotypes concentrations and IgG-subclasses were measured by nephelometry and enzyme-linked immunosorbent assay (ELISA) methods, respectively. All patients received unconjugated pneumococcal vaccine, and blood samples were taken before and 21 days after vaccination. Specific antibodies against whole pneumococcal antigens were measured using the ELISA method. Fifteen (37.5%) out of 40 patients were diagnosed to have defects in antibody mediated immunity including 5 (12.5%) patients with immunoglobulin class deficiency (2 with common variable immunodeficiency and 3 with IgA deficiency), 3 (7.5%) with IgG subclass deficiency and 7 (17.5%) patients had Specific antibody deficiency (SAD) against polysaccharide antigen despite normal levels of serum immunoglobulins and IgG subclasses. Our study along with several other studies confirmed that all patients with bronchiectasis should undergo thorough immunological evaluation in order to identify the presence of the underlying immunologic defect. This evaluation should include serum immunoglobulins, IgG subclasses concentrations and also determination of serum antibodies against pneumococcal antigens. Early diagnosis and appropriate treatment will prevent the subsequent complications and improve quality of life of affected individuals.