The Effect of Dose-Volume Parameters on Central Nervous System Relapse in Pediatric Patients with Acute Leukemia Receiving Prophylactic Cranial Irradiation.

AIM OF THE STUDY: To investigate the effects of dosevolume parameters of brain parenchyma, optic nerves (ONs) and cribriform plate (CP), which were determined on central nervous system (CNS) control in pediatric leukemia patients who have undergone prophylactic cranial irradiation (PCI) at our department. PATIENTS AND METHODS: In the current study, the records of 14 patients were examined retrospectively. Along with the minimum and maximum doses for brain and CP, D95% (minimal dose received by the 95% volume of a structure) and V95% (percent volume of target receiving 95% of prescribed dose) could be obtained from the dose-volume histogram. Statistical analyses were conducted using the Mann Whitney test in SPSS-15. RESULTS: ALL/AML ratio was 9/5. CNS relapse was observed only in 2 patients. The minimum dose was 1249 (1100-1782) cGy, 1036 (547-1651) cGy, 856 (308-1460) cGy and 1234 (922-1727) cGy for brain parenchyma, right ON, left ON and CP, respectively. The value of D95%/D was 1.01 (1-1.06) and 0.99 (0.92- 1.06) for brain parenchyma and CP, respectively. V95% was 99.8 % (98.6%-100%) and 98.1% (80.5%-100%) for brain parenchyma and CP, respectively. The analyses revealed that none of the target tissue dose-volume parameters for PCI affected CNS relapse (p>0.05). CONCLUSION: In our study; it was found that the dosevolume parameters of the brain, CP and ONs did not have any effect on CNS relapse. Along with the other clinical factors, the scarce number of patients included in the study might have concealed the effects of parameters related to RT.

Pleuropulmonary blastoma: a case report.

Pleuropulmonary blastoma is rare embryonal tumor of infancy and early childhood and it often arises from lung and more rarely from the parietal pleura. We present this entity which has no systematic data associated with its incidence in order to discuss clinical, histopathological, immunohistochemical features and the differential diagnosis. A three-year-old boy presented with fever showed signs of upper respiratory tract infection. Radiological examination revealed a solid mass filling the right hemithorax. The patient underwent core needle biopsy, wedge biopsy and lobectomy. Biopsy and surgical material were examined histopathologically. The tumor was composed of predominantly solid areas consisting blastemal cells with spindle, polygonal and round nuclei in the myxoid stroma. Immunohistochemical staining of the tumor cells were positive with vimentin and desmin. MIB-1 labeling index was above 90%. Histological diagnosis was pleuropulmonary blastoma type 3. The surgically sampled adjacent diafragma was also infiltrated with the tumor. The patient was treated with chemotherapy and showed no signs of recurrence in the follow-up of 9 months. Pleuropulmonary blastoma is a very rare childhood cancer that needs to be kept in mind in the pathological differential diagnosis of thoracic tumors in the children.

Expectoration of a foreign body at the late period: A case report.

Foreign body (FB) aspiration is a relatively common problem in children, particularly during the first 3 years of life. It is an emergency condition and the removal of the FB by bronchoscopy is the primary treatment. Children with undiagnosed retained foreign bodies may present with respiratory symptoms including recurrent or persistent wheezing, with or without respiratory failure. Spontaneous expectoration of a FB is a rare occurrence. Herein, we present a case that was diagnosed with FB aspiration during investigation for persistent wheezing and who expectorated part of a sunflower seed 2 months after aspiration.

Clinical and radiological course of simple renal cysts in children.

OBJECTIVE: To evaluate the clinical and, particularly, radiological course of simple renal cysts in children. MATERIALS AND METHODS: Children with simple renal cysts were retrospectively evaluated, especially for change in the cyst diameter during follow-up and complications. In addition, the rate of increase in cyst size per year was calculated, and those characteristics of the cyst were analyzed to predict aggressiveness. RESULTS: Simple renal cysts were detected in 45 (21 male) patients. Mean ages at diagnosis and follow-up period were 7.4 ± 4.9 and 2.9 ± 1.8 years, respectively. Forty-one of the 45 patients were followed up for longer than 1 year. Diameter of the cyst increased in 20 (49%), decreased in 4 (10%), unchanged in 13 (31%), and disappeared in 4 (10%) of patients. The average size increase and average rate of enlargement in simple cysts were 0.3 mm and 1.0% per year, respectively. Furthermore, in 19 (95%) patients, the cyst size increased in the first 2 years. Among baseline parameters, only initial cyst size was an independent predictor of annual growth rates (beta = 0.628; P <.001). The relationship between the initial cyst size and annual growth rates was determined as positive (r = 0.459, P = .003). Two patients with large cysts developed severe complication in the first 6 months. One of these underwent nephrectomy because of rapid increase in cyst diameter (170 mm), renal artery/vein compression, and massive hematuria. In the other patient with severe loin pain regarding simple cyst (73 mm), percutaneous aspiration was performed. CONCLUSION: Simple renal cysts in childhood tend to slowly increase in size. However, regular radiological follow-up might be important, especially in children with large size of cyst at diagnosis, because of more rapid increase in cyst size.

Severe neurologic involvement of Degos disease in a pediatric patient.

A 14-year-old male presented with paresthesias on the right upper and lower extremities, headache, and vomiting. In addition to worsening paresthesia and weakness on the right side of his body, blurred vision, fever, and skin lesions developed. He also had skin lesions characterized with 3-10 mm papules with a white atrophic center surrounded by pink rim mostly on the trunk and lower extremities. Brain magnetic resonance imaging showed chronic subdural effusion and encephalomalacia of the left cerebral hemisphere. Cerebrospinal fluid (CSF) examination revealed increased protein levels. Electromyography was consistent with diffuse polyradiculoneuropathy. Skin biopsy confirmed the diagnosis of a rare vasculopathy: Degos disease. A case presenting with chronic subdural effusion, encephalomalacia, elevated CSF protein, and polyradiculopathy should be carefully examined for skin lesions, which may suggest the diagnosis of Degos disease.

Place of ultrasonography in predicting vesicoureteral reflux in patients with mild renal scarring.

OBJECTIVE: To evaluate the role of renal ultrasonography (USG) in predicting vesicoureteral reflux (VUR) in children with mild renal scarring determined by dimercaptosuccinic acid scintigraphy performed after attack of urinary tract infections (UTI). METHODS: Dimercaptosuccinic acid scintigraphy, voiding cystourethrography (VCUG), and renal USG findings were evaluated retrospectively in children with UTI. Each kidney was evaluated as a separate renal unit (RU). RUs with severe scarring were excluded from the study. RUs having mild scarring with and without abnormal USG findings (group 1 and group 2, respectively) were compared in terms of the presence of VUR. RESULTS: There were a total of 228 patients (70 men, mean age 47.06 ± 44.14 months) and 456 RUs. Of the 185 RUs with mild scarring, 55 had abnormal USG findings (group 1), whereas 130 had normal USG findings (group 2). The rates of VUR and severe VUR (≥grade 4) were higher in group 1 compared with group 2 (69% vs 43%, P = .001 and 35% vs 7% respectively, P <.001). The sensitivity, specificity, positive predictive value, negative predictive value, and odds ratio of USG findings in predicting VUR in RU with mild scarring were 68%, 80%, 38%, 93%, and 8.2, respectively. CONCLUSION: Normal renal USG findings exclude a diagnosis of high-grade VUR to a large extend in children with UTI and mild renal scarring. Refraining from invasive VCUG might be a reasonable approach in these patients provided that no other predisposing factors for UTI and/or renal scarring present.

Nasopharyngeal mature teratoma in the newborn.

Teratomas which originate from two or three germ layers are the most common congenital tumors of the childhood and are usually observed in the sacrococcygeal region. The nasopharynx is a considerably rare localization. Nazopharyngeal tumors may lead to significant findings including apnea, respiratory distress and stridor in newborns. In this study, a female newborn who developed respiratory distress minutes after cesarean delivery was presented. Examination following a difficult intubation and radiological examination revealed presence of a nasopharyngeal mass in the baby who was born at the 30(th) gestational age from a 30-year old primipar woman. The nasopharyngeal mass was excised and histopathological examination revealed mature teratoma. Although nasopharyngeal teratoma is a benign tumor, it may lead to urgency of airway management in the newborn. In this case presentation, the differential diagnosis and treatment of nasopharyngeal teratoma was discussed in accompaniment with the literature information.

Pleuropulmonary Blastoma: A Case Report.

Pleuropulmonary blastoma is rare embryonal tumor of infancy and early childhood and it often arises from lung and more rarely from the parietal pleura. We present this entity which has no systematic data associated with its incidence in order to discuss clinical, histopathological, immunohistochemical features and the differential diagnosis. A three-year-old boy presented with fever showed signs of upper respiratory tract infection. Radiological examination revealed a solid mass filling the right hemithorax. The patient underwent core needle biopsy, wedge biopsy and lobectomy. Biopsy and surgical material were examined histopathologically. The tumor was composed of predominantly solid areas consisting blastemal cells with spindle, polygonal and round nuclei in the myxoid stroma. Immunohistochemical staining of the tumor cells were positive with vimentin and desmin. MIB-1 labeling index was above 90%. Histological diagnosis was pleuropulmonary blastoma type 3. The surgically sampled adjacent diafragma was also infiltrated with the tumor. The patient was treated with chemotherapy and showed no signs of recurrence in the follow-up of 9 months. Pleuropulmonary blastoma is a very rare childhood cancer that needs to be kept in mind in the pathological differential diagnosis of thoracic tumors in the children.

Clinical course of children with nutcracker syndrome.

OBJECTIVE: To evaluate the clinical properties of patients with nutcracker syndrome (NCS). MATERIALS AND METHODS: The medical records of the patients with NCS were retrospectively investigated, and the patients' sex, age, presenting symptoms, urinalysis findings, associated diseases, and body mass indexes were recorded. RESULTS: A total of 23 nonconsanguineous patients (11 male and 12 female patients, mean age 141 ± 36 months). Two patients had posterior NCS. Seventeen patients presented with 1 or >1 symptom. Fatigue and lassitude (n = 1), flank pain (n = 8), abdominal pain (n = 7), varicocele (n = 2), and macroscopic hematuria (n = 9) were the presenting symptoms. Only 6 patients had received a diagnosis of NCS from the urinalysis findings, which revealed microscopic hematuria or non-nephrotic proteinuria. The urinalysis findings disclosed isolated proteinuria in 6, hematuria plus proteinuria in 8, and macroscopic hematuria in 9 patients. Orthostatic proteinuria was detected in 7 patients. In patients with regressed hematuria and proteinuria, the body mass index was markedly increased at the end of the follow-up period relative to at diagnosis (at diagnosis 16.9 ± 4.0 kg/m(2); at the end of the follow-up period 18.6 ± 4.6 kg/m(2); P = .028). CONCLUSION: The diagnosis of NCS should be considered in the presence of symptoms such as proteinuria and hematuria and should be absolutely ruled out before attempting renal biopsy. An apparent correlation between an increased body mass index and regression of symptoms was seen.

The relationships between renal compensatory hypertrophy etiologic factors and anthropometric development in the pediatric age group.

OBJECTIVE: To evaluate the factors associated with compensatory hypertrophy in the functional kidneys of children. METHODS: The medical files of patients with a solitary functional kidney were reviewed retrospectively. Data regarding anthropometric measurements, functional renal length, functional renal length of standard deviation score (SDS) of functional kidney at diagnosis, and end of follow-up were obtained. Patients were divided into 2 groups, those with a unilateral kidney function of <10% (hypoplasia, dysplasia, and atrophy, group 1) and those with a solitary kidney (agenesis, and multicystic dysplastic kidney, group 2). RESULTS: A total of 126 patients (70 boys) were evaluated. Both the sizes of the functional kidney and functional kidney SDS values at diagnosis were greater in group 1 relative to group 2. At the end of the follow-up period, anthropometric values including functional kidney size were higher in group 2. Functional kidney size of 2 SDS above the normal was mostly predictive at age 17.5 months (odds ratio [OR] 5.06) and at a body height of 82 cm (OR 5.57). CONCLUSION: The most determining factors for renal length SDS values were age and height. Solitary kidneys complete compensatory hypertrophy by 17.5 months of age, and after that their growth continues in parallel to normal growth.

A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome.

OBJECTIVE: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare disorder that mimics both common obesity and genetic obesity syndromes along with several endocrine disorders during early childhood. We aim to present the clinical features, laboratory and imaging results, and treatment outcomes of a patient with ROHHAD syndrome. METHODS: In this case report, we describe a 26-month-old boy who was admitted to our emergency department with dyspnea and cyanosis and was suspected to have ROHHAD syndrome due to his rapid-onset obesity and alveolar hypoventilation. RESULTS: A thoracal and abdominal magnetic resonance imaging was performed to demonstrate a possible accompanying neural crest tumor and it provided a yet asymptomatic retroperitoneal ganglioneuroblastoma. Based on these findings, the patient was diagnosed as ROHHADNET syndrome. CONCLUSION: Because of the high prevalence of cardiorespiratory arrest and probability of accompanying tumors, early recognition of ROHHAD syndrome is important. To prevent presumptive mortality and morbidity, ROHHAD syndrome should be considered in all cases of rapid and early-onset obesity associated with hypothalamic-pituitary endocrine dysfunctions.

Vascular rings: presentation, imaging strategies, treatment, and outcome.

This study aimed to evaluate the presenting symptoms, the effectiveness of imaging methods, and the surgical treatment of vascular rings. Data for 44 patients (32 enrolled prospectively, 12 reviewed retrospectively) over a 10-year period in a tertiary referral center were analyzed. These patients comprised 25 patients with a left aortic arch and an aberrant right subclavian artery, 13 patients with a right aortic arch and a left subclavian artery originating from Kommerell's diverticulum, 1 patient with a right aortic arch and an aberrant left subclavian artery, 3 patients with a double aortic arch, and 2 patients with a pulmonary sling. Respiratory symptoms were found in 25 patients and dysphagia in 6 patients. Atypical symptoms such as reflex apnea, cyanosis, syncope episodes, and exercise-induced wheezing were noted in five patients. Associated congenital heart defects were detected in 41% of the patients. The diagnostic yield was 95.23% for barium esophagography, 54.54% for echocardiography, and 66.66% for computed tomography. The anatomy could be correctly identified by magnetic resonance imaging (MRI) in 97.43% and by angiography in 90.5% of the patients. Of the 30 patients who underwent surgery, 80% were completely relieved of symptoms during a mean follow-up period of 25 ± 33.5 months. Vascular rings should not be overlooked in infants with atypical symptoms. The authors' diagnostic procedure of choice is MRI because it is superior to angiography for delineating the relationship between abnormal vascular structures, trachea, and esophagus.

A rare complication of intrathecal methotrexate in a child with acute lymphoblastic leukemia.

Methotrexate (MTX) is an essential component of chemotherapy for childhood acute lymphoblastic leukemia (ALL). Both intravenous and most commonly intrathecal routes of MTX have been implicated in acute, subacute, and chronic neurotoxicity syndromes. Subacute MTX neurotoxicity occurs within days to weeks after the intravenous or intrathecal therapy and characterized by a distinct presentation with remarkable clinical resemblance to stroke, including hemiparesis, hemisensory deficits, aphasia, dysarthria, dysphagia, and diplopia. Herein the authors describe the clinical and typical neuroimaging features of a female patient with ALL who presented with subacute MTX neurotoxicity that rapidly progressed to a severe clinical condition in a few hours but eventually resolved completely with dexamethasone and folinic acid. Subacute MTX neurotoxicity is a transient neurological dysfunction that should be considered in patients presenting with stroke-like and various neurological symptoms 10 to 14 days after intrathecal therapy and diffusion-weighted magnetic resonance imaging should be undertaken for the correct diagnosis and exclusion of possible ischemic infarct. Discontinuation of subsequent intrathecal MTX therapies should be considered in severe cases and treatment with dexamethasone and folinic acid may help to resolve the symptoms.

Soft tissue sarcomas and central nervous system tumors in children with neurofibromatosis type 1.

OBJECTS: We aim to evaluate the characteristics of pediatric patients with neurofibromatosis type 1 (NF1) who developed soft tissue sarcomas (STSs) and central nervous system (CNS) tumors that have been followed up in our center. MATERIALS AND METHODS: Medical records of children with NF1 were retrospectively analyzed. RESULTS: There were 78 patients who met at least two diagnostic criteria for NF1. The median age of patients was 10 years (0.5-18), and M/F ratio was 1.3. The prevalance of the optic glioma was 11.5% (n = 9), and one patient with optic glioma also had cystic astrocytoma, one patient had brain stem tumor, and one patient had a CNS tumor (without histopathologic diagnosis). Seven of nine children were ≥ 7 years old at the time of the diagnosis of optic glioma. Visual impairment developed in four patients, and two of them were treated with radiotherapy solely on the basis of evidence of clinical and radiological progression of the tumors. Four patients developed STSs. Two of them had malignant peripheral nerve sheath tumors (MPNST), and the remaining two had bladder rhabdomyosarcoma. Three of the four patients with STSs died with progressive disease. CONCLUSION: The clinical course of malignancy in NF1 is often different from that of similar tumor types in the general population. Careful follow-up in patients with NF1 is required to enable the early diagnosis of malignancies, and the developments of new targeted therapies are needed for improvement of the outcome for patients of this group, especially with MPNST.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of α-dystroglycan (α-DG). Abnormal glycosylation of α-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described.

Challenges of radiological assessment in an infant with giant calcified hepatoblastoma.

Hepatoblastoma is a rare neoplasm of all pediatric cancers. The goal of treatment is to remove the tumor completely because cure without complete resection is extremely unusual. Accurate assessment of tumor resectability following preoperative chemotherapy is of crucial importance. It is sometimes difficult, especially when the tumor is as large and calcified as in the described case. Detailed radiological imaging such as computed tomography angiography or magnetic resonance angiography is the key for selecting the proper treatment method in hepatoblastoma during the preoperative period. In this article, we report a successfully treated giant calcified hepatoblastoma despite radiological assessment complexity.

Fibromuscular dysplasia as a cause of stroke in a 9-year-old girl.

Fibromuscular dysplasia is a rare, idiopathic and nonatheromatous disease. It is rarely encountered as a cause of stroke in children. We report a nine-year-old girl with stroke in whom extensive fibromuscular dysplasia of intracranial vessels was established. She also had familial combined hyperlipidemia as an additional risk factor. This case suggests that additional risk factors like hyperlipidemia in cases with fibromuscular dystrophy may facilitate the occurrence of stroke at early ages.