Cellular congenital mesoblastic nephroma detected by prenatal MRI: a case report and literature review.

Congenital mesoblastic nephroma (CMN) is a rare tumor, yet it is the most frequently diagnosed renal neoplasm in the first 3 months of life. CMN reports with prenatal magnetic resonance imaging (MRI) are scarce. Our aims were to describe a case with fetal MR imaging along with other findings, and to review the literature concerned with prenatal MRI detection of CMN. Upon routine ultrasound (US) examination of a 36-week pregnant woman, a fetal abdominal mass was disclosed. Prenatal MRI revealed a large, well-circumscribed renal mass of solid and cystic components, not invading the adjacent tissues, but compressing normal renal parenchyma of the lower pole of the left kidney. Thus, a low malignant renal tumor was considered. After Cesarean delivery, imaging including US and computerized tomography (CT) scan was performed on the apparently healthy boy and verified the prenatal MRI finding. Accordingly, left nephrectomy was performed at the age of 12 days. The pathology confirmed CT results of the solid and cystic components of the mass, in addition to the necrotic and hemorrhagic constitution. Cellular CMN was diagnosed, and ETV6 gene rearrangement was demonstrated by FISH analysis. No recurrence was detected within the 40 months follow-up after the operation. Our report described a rare and seldomly detected renal tumor in utero with the aid of MRI and reviewed the few related reports in the literature in which MRI was performed prenatally. This report also highlights the need for prenatal MRI as a complementary tool to US in cases with suspected fetal renal mass and recommends its use for carefully managing the possible risks during the perinatal period.

Neurocutaneous Melanosis in Association With Large Congenital Melanocytic Nevi in Children: A Report of 2 Cases With Clinical, Radiological, and Pathogenetic Evaluation.

Background: Melanocytic nevi present at birth, or within the first few months of life, are defined as congenital melanocytic nevi (CMN). Neurocutaneous melanosis (NCM) is a rare disorder, represents pigment cell tumors of the leptomeninges, and occurs in association with large or multiple CMN. NCM carries an extremely poor prognosis. NRAS and BRAF V600E genetic mutations were reported in CMN. Our aim was to report 2 rare cases of NCM associated with large-sized CMN. Materials and Methods: Two cases were enrolled, a 19-month-old boy with multiple satellite and giant CMN (GCMN); and a 57-month-old girl with large CMN (LCMN). Both patients had central nervous system (CNS) symptoms, and therefore, were studied from clinical, radiological, and immunohistopathological aspects. Cytogenetic study was done for one of them. Results: Both patients had CMN located in the head/neck, with no cutaneous melanoma. MRI was the most reliable method for early detection of NCM. NCM was proved in the 2 studied cases by immunohistopathology performed after surgery. The boy with GCMN carried NRAS mutation at codon 61, in addition to the characteristic facial features relevant to RASopathies. Both patients died despite surgical intervention. Conclusion: Our report highlights the need for pediatricians to be alert to the risk of NCM in association with CMN, especially when a CMN lesion is large, or there are multiple satellite lesions, or the nevus location is at the head or neck. Moreover, in the setting of CMN, the absence of skin melanoma does not exclude the presence of NCM.

Asymmetrically enlarged parietal foramina in a rare case of Goldenhar syndrome with a possible etiopathogenesis.

Goldenhar´s syndrome (GS) also known as oculo-auriculo-vertebral spectrum (OAVS) is a relatively rare condition. GS is of multifactorial etiology that includes environmental and/or genetic factors, in addition to teratogens that disturb the blastogenesis. A 5-year-old girl from Saudi Arabia, was a member of dizygotic twins conceived by assisted reproductive technology (ART), and born with features of GS. She had asymmetrical face, cleft lip and palate, right microphthalmia and microtia. Radiological imaging showed right maxillary and mandibular bone hypoplasia, asymmetrically enlarged parietal foramina, a persistent midline occipital foramen, abnormal bone arising from occipital bone, extending along tentorium cerebelli, and a lipoma at the right tentorium cerebelli. A rudimentary right eye with dermoid cyst and pseudotumor as well as bilateral atresia of external auditory canals were present. Karyotyping was normal. ART and the risk of manipulation of ovum/embryo, was shown to be associated with multiple gestation and an increased risk of major birth defects. Given that our patient was from Eastern-province close to the South of Iraq, where Gulf wars took place and the reported incidence of birth defects, including orofacial malformation, jumped there to about seven-folds, after war, thus, environmental contamination, and the possible teratogenic effect of depleted uranium could not be excluded. In conclusion, our case of GS, disclosed a rare radiological finding in calvarial anatomy, and asserted that, careful clinical evaluation is recommended in cases of GS. ART fertilization risk along with the possible parental environmental exposure were regarded as the potential cooperators of multifactorial etiology in our case.

Mediastinal lesions across the age spectrum: a clinicopathological comparison between pediatric and adult patients.

The objective of this study was to identify the differences in histopathological distribution and clinical features of mediastinal lesions (MLs) across the age spectrum in Chinese series of patients and to compare with the available literature. A total of 409 cases of MLs, including 137 pediatric and 272 adult patients from a single institution, was reviewed and categorized into groups according to age. Among the 409 cases, the age showed a bimodal distribution with an increased incidence of MLs among (< 10 year) and (60-< 70 year) age groups. Thymic lesions, neurogenic tumors, and cysts made up 57% of MLs among the 409 cases. A significantly higher frequency was found for neurogenic tumors, germ cell tumors, mesenchymal tumors, and lymphatic lesions, (p < 0.01) for all, in pediatric population compared to adults. On the contrary, frequencies of thymic lesions and metastatic carcinomas were significantly higher in adults compared to pediatric category, (p < 0.01) for both. Overall, 41.6% were asymptomatic, however, pediatric patients showed a significantly higher incidence of cough and fever, (p < 0.01) for both, and dyspnea (p = 0.02), than adults. Whereas adult subset showed a significantly higher incidence of chest pain (p = 0.02), or oppression (p < 0.01), than pediatric counterpart. In conclusion, the age spectrum was the factor that influenced the histopathological distribution and the clinical presentation of MLs in Chinese series of patients. Such differences might be considered in the differential diagnosis and therapeutic approach for adult as well as pediatric patients with MLs. Furthermore, our study was comparable to the literature in terms of MLs frequencies.