Evaluating the value of different sonographic findings in diagnosis of acute appendicitis in children.

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.

Cervicofacial Lymphangioma: Is it Time to Put Down the Scalpel?

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.

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.

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.

Tumefactive Multiple Sclerosis Variants: Report of Two Cases of Schilder and Balo Diseases.

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.

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.

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.

Computed tomography findings of a patient with severe dysplasia of the inner ear and recurrent meningitis: a case report of gusher ear in a five-year old boy.

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.

Long-term ultrasound appearance of concomitant autologous blood and dextranomer/hyaluronic acid copolymer implants: is it associated with successful correction of vesicoureteral reflux?

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.

Twin fetus in fetu with immature teratoma: a case report and review of the literature.

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.

Evaluation of humoral immune function in patients with bronchiectasis.

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.

Osteoid osteoma: percutaneous laser ablation and follow-up in 114 patients.

PURPOSE: To retrospectively evaluate the effectiveness of interstitial laser ablation (ILA) as a curative treatment of osteoid osteoma. MATERIALS AND METHODS: Ethical review board approval was obtained for the retrospective study. Informed consent was waived. From June 1994 to June 2004, 114 patients (mean age, 22.3 years) suspected of having osteoid osteoma underwent ILA with a diode laser (805 nm). An optical fiber was introduced into the nidus of the osteoid osteoma, and 400-3000 J of energy was delivered, depending on the size and location of the nidus. Twelve spinal osteoid osteomas were treated; in five of these cases, the nidus was located fewer than 8 mm from the adjacent nerve roots, and slow epidural or periradicular infusion of normal saline was used to avoid thermal damage to neurologic structures. Pain was evaluated with a visual analog scale (VAS) and medication. ILA was considered successful (score, 0) when complete pain relief was achieved (VAS score, <1) without medication. RESULTS: One week after ILA, 112 patients had a score of 0. One week after ILA, one patient had pain that persisted for 2 months because of reflex sympathetic dystrophy. At follow-up (mean, 58.5 months; range, 13-130 months), six patients had recurrence of pain from 6 weeks to 27 months after the initial ILA. These recurrences were treated successfully with a second ILA. Only one unsuccessful treatment was encountered. CONCLUSION: Percutaneous ILA is an effective treatment for osteoid osteoma.