Rhadboid tumor of the kidney presenting as an abdominal mass in a newborn

Rhabdoid tumor of the kidney is a highly malignant tumor seen in the neonatal population with a characteristic clinical course. There are no known radiologic features to differentiate rhabdoid tumor of the kidney from other renal tumors; however, this report presents a newborn infant with rhabdoid tumor of the kidney who had a normal prenatal ultrasound at ten days prior to birth, followed by an abnormal prenatal ultrasound one day prior to birth. Observation of such a rapid development of a tumor in the kidney in a fetus or an infant should raise the possibility of a highly malignant tumor such as a rhabdoid tumor.     

Cardiac Inflammatory Pseudotumor: Rapid Appearance in an Infant with Congenital Heart Disease

The rapid growth of an inflammatory pseudotumor in the right atrium of an infant with pulmonary valve stenosis and atrial septal defect is documented. Systemic manifestations, including fever, weight loss, leukocytosis, and hypergammaglobulinemia, suggested infection; the diagnosis was made after surgical resection. Sixteen months after surgery the infant is asymptomatic, and the hypergammaglobulinemia and leukocytosis have resolved. Trauma may have been the inciting factor for this inflammatory pseudotumor.     

A case of congenital Listeria septicemia associated with high levels of inflammatory cytokines

A case of congenital Listeria septicemia is reported. A 2256 g male infant suffering from respiratory and circulatory failure with shock-like symptoms and high levels of inflammatory cytokines (tumor necrosis factor-α, interleukin-1β, ?6, and ?8), was admitted to the Morioka Red Cross Hospital. Listeria monocytogenes was cultured from cord blood, contents from the external ear canal, rectum and stomach. The infant was treated with surfactant replacement as well as conventional therapy. The high levels of interleukin-1β decreased with the improvement of the circulatory function, which might have been the major cause of the poor clinical state.     

Developmental regression as an early manifestation of vitamin B12 deficiency

Loss of previously attained developmental milestones in an infant is often associated with central nervous system tumor, neuromuscular disease, or an inborn metabolic error. An infant with developmental regression and involuntary movements who was found to be vitamin B12 deficient on the basis of unrecognized maternal vitamin B12 deficiency is described. The infant had a dramatic neurologic recovery after receiving vitamin B12. The case and a review of similar cases is presented.     

Female pseudohermaphroditism with phallic urethra in the offspring of a mother with an adrenal tumor

BACKGROUND: Female pseudohermaphroditism is a disorder in which 46,XX females with ovaries do not develop as normal women. This disorder is caused by overexposure of a female fetus to androgens during intrauterine life. We describe a masculinized female infant who was born to a mother who had virilizing signs. PATIENT REPORT: The patient had a normally formed phallus and a completely fused scrotum. Baseline as well as stimulated adrenal hormones and testosterone values were in the normal range in the infant. No androgens were given to the mother during pregnancy. Serum 17-OHP, DHEA-S, and testosterone levels were all elevated in the mother. Imaging studies revealed a tumor mass over the left kidney pole. Histologically it was an adrenal tumor. CONCLUSIONS: Although a maternal adrenal tumor is a rare cause of female pseudohermaphroditism, the physician must bear this in mind when confronted with a newborn or infant with 46,XX karyotype and cryptorchidism with a phallic urethra.     

A case of immature teratoma originating in intra-abdominal undescended testis in a 3-month-old infant

Teratomas in an undescended testis are rare in infants. This report was the youngest case of immature teratoma originating in intra-abdominal undescended testis. A 3-month-old infant with cryptorchism was seen because of an asymptomatic palpable mass in the right abdomen. Ultrasonography and computed tomography revealed a multicystic large tumor with focal calcifications in the right side and serum tumor markers within normal limits. Complete resection of the tumor was performed and the histopathological diagnosis was made as immature teratoma of the right testis. Because retroperitoneal lymph nodes metastasis was observed in 3-month follow-up postoperatively, retroperitoneal lymphadenectomy and chemotherapy including bleomycin, etoposide, and cisplatin were performed. Presently, the infant has been free of recurrence for 3 years. We suggest that nonpalpable testis should undergo a careful evaluation and prompt resolution and that the subsequent finding of an intra-abdominal mass should make us think on the possibility of intra-abdominal testicular germ cell tumor. Postoperative adjuvant chemotherapy in combination with complete resection of the tumor is necessary for pediatric immature teratomas originating in intra-abdominal undescended testis.     

Congenital cerebellar malignant rhabdoid tumor in an infant with junctional epidermolysis bullosa.

Epidermolysis bullosa (EB), a hereditary blistering condition of the skin, is divided into simplex, hemidesmosomal, junctional, and dystrophic types. It may be complicated by the development of squamous cell carcinoma of the skin, but other neoplasms, especially those separate from involved skin, are distinctly rare. We report a male infant with junctional EB who died of Pseudomonas sepsis and was found at autopsy to have a clinically unrecognized cerebellar malignant rhabdoid tumor (MRT). This is the first reported case of an infant with EB and a coincident extracutaneous neoplasm. It is also the first known case of EB associated with a pathologically confirmed malignant brain tumor. Cytogenetic results from the infant and his tumor and both of his parents suggest the infant's EB and MRT were not genetically linked.     

Mesocolic Myxoid Hamartoma Showing Neural Differentiation: An Ultrastructural and Immunohistochemical Study

A myxoid mesocolic tumor in a 4-month-old female infant is described. The tumor weighed 190 g and measured 8 cm in diameter and presented as a single mass composed of stellate and round cells with vesicular nuclei and prominent nucleoli in a myxoid, well-vascularized stroma. Electron microscopy showed mesenchymal cells with dilated rough endoplasmic reticulum, cell projections with primitive and desmosome-like cell junctions, and basal membrane-like material. Immunohistochemical studies demonstrated immunoreactivity with antibodies against vi-mentin and S-100 protein. The infant is well and without evidence of disease 3 years after surgery. This is an example of a peripheral myxoid hamartoma with neural differentiation, and the tumor is expected to have a benign clinical course.     

Mesocolic myxoid hamartoma showing neural differentiation: an ultrastructural and immunohistochemical study

A myxoid mesocolic tumor in a 4-month-old female infant is described. The tumor weighed 190 g and measured 8 cm in diameter and presented as a single mass composed of stellate and round cells with vesicular nuclei and prominent nucleoli in a myxoid, well-vascularized stroma. Electron microscopy showed mesenchymal cells with dilated rough endoplasmic reticulum, cell projections with primitive and desmosome-like cell junctions, and basal membrane-like material. Immunohistochemical studies demonstrated immunoreactivity with antibodies against vimentin and S-100 protein. The infant is well and without evidence of disease 3 years after surgery. This is an example of a peripheral myxoid hamartoma with neural differentiation, and the tumor is expected to have a benign clinical course.     

Meckel's diverticulum associated with ileal volvulus in a neonate

A symptomatic Meckel's diverticulum (MD) may manifest as an intestinal obstruction secondary to a volvulus. We describe a case of a meconium-impacted MD associated with inflammatory adhesions to adjacent viscera that presented as an intestinal obstruction in a 4-h-old infant secondary to an ileal volvulus with resultant infarction of the diverticulum and ileal segment.     

Emergence of mature teratoma following treatment of sacrococcygeal endodermal sinus tumor: CT and MR imaging with pathological correlation

We report a case of pseudoretroconversion in which, clinically and pathologically, it appeared that an endodermal sinus tumor retroconverted to mature teratoma. An 8-month-old white female infant with a sacrococcygeal tumor, diagnosed by biopsy as endodermal sinus tumor (yolk sac tumor), was treated with chemotherapy. The residual tumor after treatment was mature teratoma confirmed by imaging and by pathological examination. We present the computerized tomography (CT) and magnetic resonance imaging (MRI) findings with pathological correlation.     

Malignant fibrous histiocytoma of primary omental origin in an infant

A case of malignant fibrous histiocytoma occurring in an infant is presented. The primary location of the tumor was in the omentum. Sonography showed huge, lobulated echogenic masses with cystic areas. CT demonstrated heterogeneously enhancing masses with central cystic and necrotic areas. This very unusual occurrence of a tumor in infancy with an intraabdominal location is described and the radiographic imaging is presented.     

Infantile fibrosarcoma of femur

We describe the clinical presentation and pathological features of an infantile fibrosarcoma of the femur that occurred in a 3 1/2-month-old male infant. The tumor grew rapidly, reaching large size within a few months, finally requiring amputation. The tumor was poorly circumscribed, infiltrating the adjacent soft tissue extensively. Microscopically, it was a highly cellular tumor composed of immature-appearing spindle-shaped cells. Ultrastructural study revealed mesenchymal cells with fibroblastic and histiocytic differentiation.     

INFLAMMATORY MYOFIBROBLASTIC TUMOR OF THE GASTROESOPHAGEAL JUNCTION IN CHILDHOOD

We report an unusual case of an inflammatory myofibroblastic tumor arising at the gastroesophageal junction in a 14-year-old girl. The bland histologic appearance with concurrent infiltration into adjacent structures made diagnostic interpretation difficult, but suggested a neoplastic process. A literature review was undertaken to address diagnostic and management issues raised in this case. Although the anatomic location was unusual, clinical, gross, histopathologic, and immunohistochemical data substantiated the diagnosis of inflammatory myofibroblastic tumor. The bland histologic appearance was consistent with the most widely accepted view of inflammatory myofibroblastic tumor as a low-grade neoplasm. Wide surgical excision was performed. This is considered the preferred treatment given the potential risk of recurrence and aggressive behavior, most frequently noted with extrapulmonary disease. Although inflammatory myofibroblastic tumor represents an heterologous spectrum of benign to malignant neoplastic proliferations, the prognosis is good in cases with benign histologic features.     

Congenital Guillain-Barré syndrome associated with maternal inflammatory bowel disease is responsive to intravenous immunoglobulin.

A 34-week floppy preterm infant born to a mother with acute ulcerative colitis presented with a progressive reduction in spontaneous limb movements, severe generalized hypotonia, areflexia, autonomic dysfunction and respiratory failure. Electromyography revealed pronounced denervation activity and markedly slow nerve conduction velocity (3 m/s) with evidence of conduction block. These findings indicated demyelination with additional axonal features. The infant was diagnosed with congenital Guillain-Barré syndrome, was treated with intravenous immunoglobulin and showed clinical improvement within 48 hours of treatment. The relationship between inflammatory bowel syndrome and inflammatory demyelinating polyneuropathy is discussed.     

胸锁乳突肌巨微解剖与先天性肌性斜颈病因的关系

目的　观察胸锁乳突肌的血供来源及婴幼儿胸锁乳突肌假性肿瘤的病变特征,探索先天性肌性斜颈的病因与两者之间的关系。方法　用巨微解剖的方法,研究6例小儿尸体胸锁乳突肌的血供。对25例婴幼儿胸锁乳突肌假性肿瘤标本,行大体观察及光镜检查。结果　胸锁乳突肌的血供有多个起源,而且来自不同的解剖平面及方向,平均由4条动脉供给。婴幼儿胸锁乳突肌假性肿瘤大体标本为纤维瘤样,混杂有不同程度的肌组织。光镜显示间质增生,无钙化、出血及炎症反应。结论　从胸锁乳突肌解剖特征,难以解释头颈前曲、侧弯和外旋会造成胸锁乳突肌缺血。结合婴幼儿胸锁乳突肌假性肿瘤病理变化,我们推测婴幼儿胸锁乳突肌假性肿瘤是由于胸锁乳突肌发育紊乱引起,而不是创伤。     

Ectopic intracranial retinoblastoma in a 3.5‐month‐old infant without eye involvement and without evidence of heritability

Heritable retinoblastoma can rarely be associated with a midline intracranial neuroblastic tumor, referred to as trilateral retinoblastoma. We present an unusual midline brain tumor in an infant that was identified as ectopic retinoblastoma by histopathology, DNA methylation analysis, and molecular genetic detection of biallelic somatic inactivation of the RB1 gene. There was no ocular involvement, and germline mutation was excluded. In this nonresectable tumor, treatment with systemic chemotherapy including high‐dose therapy with autologous stem cell transplantation, but without definite local therapy, resulted in long‐lasting tumor control.     

水通道蛋白4在感染性脑水肿大鼠脑组织中变化的意义

目的观察内毒素致幼年大鼠感染性脑水肿后脑组织水通道蛋白4(AQP4)表达的变化。方法将50只幼鼠随机分为内毒素组(40只)和对照组(10只)。建立内毒素致大鼠感染性脑水肿模型。于术后6、12、24、48 h处死动物,分别行脑组织含水量、血脑屏障通透率测定,以伊文思兰含量判定血脑屏障通透率,并应用免疫组织化学技术检测脑组织内AQP4表达水平。结果内毒素组脑组织含水量和伊文思兰(EB)水平明显高于对照组。在脂多糖注射后6 h时,幼鼠脑组织AQP4表达明显增加,12 h时达高峰,各时间点与对照组比较均有显著性差异(P<0.01)。结论感染性脑水肿后脑组织AQP4表达增加,且与脑组织含水量呈正相关。     

Rare localization of extrarenal nephroblastoma in 1-month-old female infant

Extrarenal occurrence of Wilms' tumor is exceptional and the diagnosis is almost always made after surgery. The exact mechanism whereby a Wilms' tumor occurs in extrarenal tissue is unknown. The tumor is most commonly located in the retroperitoneum or inguinal region. Localization in subcutaneous tissue is extremely rare. In this paper, the case of a 1-month-old female infant with an extrarenal Wilms' tumor located in the lumbosacral region is presented. Surgical excision is the treatment of choice, and the same general therapeutic rules should be followed as when the kidney is affected.     

Peripheral primitive neuroectodermal tumor presenting with diffuse cutaneous involvement and 7;22 translocation

We report an unusual case of peripheral primitive neuroectodermal tumor (pPNET) in an infant presenting with congenital cutaneous nodules and a t(7;22)(p21;q11.2). The biologic behavior of the tumor diverged over time from a slowly growing tumor with multiple cutane-ous nodules to a more aggressive neoplasm characterized by pulmonary metastases and a soft tissue mass showing additional cytogenetic alterations. Med. Pediatr. Oncol. 30:357–363, 1998. © 1998 Wiley-Liss, Inc.