The triad of nesidioblastosis, congenital neuroblastoma and glomerulocystic disease of the newborn: a case report

Neuroblastoma is the most common malignant tumor of the newborn, comprising 20% of all malignancies encountered during the neonatal period. We herein report a newborn who was born after 29 weeks' gestation and died unexpectedly at the 12th hour of life with no response to vigorous cardiopulmonary resuscitation. Autopsy findings revealed a right pararenal mass; microscopic examination showed neuroblastoma. Although the pancreas was grossly normal, its microscopic sections revealed a reduced number of islets of Langerhans and dispersion of the islet cells throughout the exocrine cells of the pancreas, and immunocytochemistry for the pancreatic hormones confirmed the dispersion of the islet cells. Final pathologic interpretation thus concluded the presence of nesidioblastosis. Furthermore, microscopic examination of the kidney showed glomerulocystic disease. Although the association of congenital neuroblastoma and nesidioblastosis has recently been defined as a new complex, neurocristopathy, the triad of congenital neuroblastoma, nesidioblastosis and glomerulocystic disease of the newborn has not been reported previously. To our knowledge, our case is the first reported newborn presenting with this triad. In conclusion, the association of nesidioblastosis and/or renal glomerulocystic disease should be kept in mind when encountering a case of congenital neuroblastoma. However, whether the presence of glomerulocystic disease in association with those other neurocristopathic pathologies is a coincidental finding or shares a common pathophysiological mechanism remains to be determined.     

Extrarenal Wilms' tumor.

Extrarenal Wilms' tumor is a rare entity usually seen as a mass in the retroperitoneal area. It may surround and distort otherwise normal kidneys and ureters. Like many other abdominal masses, its true nature remains uncertain until microscopic examination has been performed after surgery. The tumors appear to behave clinically like intrarenal Wilms' tumors, though in the cases reviewed there was a relatively higher incidence in older patients. The prognosis of extrarenal Wilms' tumor is difficult to evaluate due to the small numbers of cases reported and the differing tumor therapy used. However, those cases treated most recently appear to have a good response to therapy.     

Aggressive Angiomyxoma of Childhood: Two Unusual Cases Developed in the Scrotum

Aggressive angiomyxoma (AAM) is a locally invasive soft tissue tumor and is predominantly found in the female pelvis and perineum. The incidence of AAM in adult and adolescent males is low, and is very rare in male children. However, two cases of AAM occurred in the scrotum of 8-year-old and 1-year-old boys. Grossly, both tumors were ill-delineated nodules showing myxoid homogenous and lobulated cut surface. The scrotum of case 2 was replaced by the exuberant mass, making a polypoid appearance. On microscopic examination, both had hypocellular myxoid stroma, spindle and stellate stromal cells, and blood vessels of various calibers. Both lesions typically showed infiltrating borders and penetrated into skin adnexa and Dartos' muscle fibers. AAM should be considered in the differential diagnosis of a scrotal mass found in childhood.     

Vaginal endodermal sinus tumor

Malignant germ cell tumors are rare tumors of childhood accounting less than 3% of pediatric malignancies, and endodermal sinus tumor (EST) is the most common histological subtype. The vagina is an extremely rare site for germ cell tumors (GCT). A one-year female was admitted with history of bleeding pervagina. She had pallor and a mass was palpable anteriorly on rectal examination. Magnetic Resonance Imaging (MRI) showed a tumor mass at the junction of cervix and vagina and biopsy was suggestive of a vaginal EST. The serum alpha fetoprotein (AFP) was elevated. She underwent vaginohysterectomy. The tumor was excisedin toto and patient received four courses of cisplatin, etoposide and bleomycin. At one year of follow up, patient was symptom free and serum AFP remained at normal level. EST of the vagina is a rare, highly malignant GCT that exclusively involves children less than 3 years of age. It is both locally aggressive and capable of metastasis. Even though more conservative surgery is advised to maintain sexual and reproductive function, at times, radical surgery is mandatory depending on the infiltration of the tumor to the surrounding structures. Simple tumor excision is not sufficient, as residual cells induce recurrence and make chemotherapy ineffective. The serum AFP level is a useful marker for diagnosis and monitoring the recurrence of vaginal EST in infants.     

Juvenile granulosa cell tumor of the testis: prenatal diagnosis and prescrotal approach

Neonatal testicular tumors are rare and should be considered in the differential diagnosis of newborn scrotal masses. Juvenile granulosa cell tumor (JGCT) accounts for about 5% of all prepubertal testis tumors. As a benign neoplasm, radical orchiectomy is sufficient for treatment. We report a case of a newborn with a prenatal diagnosis of scrotal mass. After surgery, the histological diagnosis was juvenile granulosa cell tumor. To date the patient is healthy.     

Pediatric laryngeal granular cell tumor

A female African-American patient in middle childhood presented with findings of laryngeal disease with airway obstruction and had a laryngeal granular cell tumor. A clinical review of granular cell tumors is presented, emphasizing its propensity for subglottic involvement, its imaging features, and differential diagnosis. Received: 3 December 1999/Accepted: 9 August 2000     

Granular Cell Tumor of the Thyroid Gland in a Girl Receiving High-Dose Estrogen Therapy

We describe the first case of a granular cell tumor of the thyroid. The tumor appeared while a girl was receiving high-dose estrogen therapy for tall stature. The tumor, however, did not contain estrogen or progesterone receptors. Although granular cell tumors occur twice as commonly in women as in men, the results of this case study do not provide evidence that tumor growth is mediated by direct estrogen or progesterone stimulation.     

Juxtaglomerular cell tumor in an 8-year-old girl

Juxtaglomerular cell tumor (JGCT) is an extremely rare renal neoplasm in the pediatric population. It is considered a benign tumor arising from the juxtaglomerular apparatus of the kidney. JGCT has characteristic clinicopathologic features, but its cytogenetic features are unknown. We report a case of JGCT in an 8-year-old female who presented with severe hypertension, elevated serum renin level, and a well circumscribed tumor in the right kidney. Protogranules of renin was identified in the cytoplasm of the tumor cells by electron microscopic examination. Fluorescence in situ hybridization revealed monosomy of chromosomes X, 6, 9, 11, 15, and 21.     

Kongenitaler melanotischer neuroektodermaler Tumor

Congenital melanotic tumors (MNT) are very rare tumors of childhood. Microscopic findings overlap with those of other small round cell tumors. The neoplasia is almost always benign and generally arises in the maxilla in the 1st month of life. The histogenesis is still controversial today. The idea of a neuroectodermal origin is the most frequently advocated hypothesis. The diagnosis is possible by the coexpression of epithelioid antigen containing cells and melanotic-like cells. The differential diagnosis includes other small round blue cell tumors such as Ewing’s sarcoma, neuroblastoma, PNET, or malignant lymphoma. Treatment of MNT has typically been surgical. We report a case of a 3-month-old infant with an unusual recurrent tumor. Molecular cytogenetic studies in our case did not show numeric or structural genetic changes. The expression of the growth factor VEGF in the neuroblastic tumor cells was high and the growth factor angiopoietin-1 was strongly expressed in the melanotic tumor cells.     

Ovarian Sarcoma with Pathologic Features of Clear Cell Sarcoma of the Kidney

We report a case of an unusual sarcoma arising in the ovary of an infant girl. Histologically, the tumor was composed of clear, undifferentiated cells set in an arborizing vascular stroma. Immunohistochemical staining was positive only for vimentin. Ultrastructural evaluation demonstrated undifferentiated cells with interdigitating broad cell processes that encompassed irregular electron lucent spaces that contained flocculent extracellular material. Light and electron microscopic features of the tumor resembled a clear cell sarcoma of the kidney. Although the cell of origin is unproven, both tumors may arise from primitive mesenchymal cells that may not be restricted to the kidney. Received April 29, 1999; accepted July 22, 1999.     

A rare germ-cell tumor site: vaginal endodermal sinus tumor

Malignant germ-cell tumors (MGCT) are rare tumors of childhood accounting for less than 3% of pediatric malignancies. Endodermal sinus tumor (EST) forms the most common histologic subtype of MGCT. The vagina is an extremely rare site for GCTs. A 9-month-old female was admitted with a short history of vaginal bleeding, a mass protruding from the vagina, and difficulty in passing urine. She was pale, the bladder was full, and a mass was palpable anteriorly on rectal examination. Ultrasound showed an ovoid, hyperechoic mass posterior to the bladder. A biopsy revealed a vaginal EST. The serum alpha-fetoprotein (AFP) was elevated partial vaginectomy was done and the tumor was excised in toto. The patient was subsequently given six courses of cis-platinum, etoposide, and bleomycin and on follow-up continues to be free from disease. EST is the most common GCT in children. In females, it is usually encountered in the ovary. EST of the vagina is a rare, highly malignant GCT that exclusively involves children less than 3 years of age. The diagnosis is based on histology and raised AFP. Vaginal EST is both locally aggressive and capable of metastasis. Untreated patients have died within 2 to 4 months of presentation. Radical surgery leads to a loss of sexual and reproductive function. Long-term irradiation has secondary effects of sterility, aseptic necrosis of the femoral head, and abnormal growth of the pelvic bones. Partial vaginectomy with combination chemotherapy is the most recommended line of treatment. The surgery eradicates local tumor cells and makes subsequent chemotherapy more effective. Simple tumor excision is not sufficient, as residual tumor cells induce early recurrence and make chemotherapy ineffective. The serum AFP level is a useful marker for diagnosis and monitoring the recurrence of vaginal EST in infants.     

EXIT procedure in a neonate with a prenatally diagnosed granular cell tumor

Congenital oral tumor masses might cause ventilation problems in the neonate. We report the first case of an EXIT procedure performed in a fetal granular cell tumor arising from the maxilla that was diagnosed prenatally followed by surgical correction on the 4th day of life. The EXIT procedure is an elegant approach to optimize perinatal airway management in such tumors.     

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.     

Diffuse intrinsic brainstem tumors in neonates. Report of two cases

The authors report on 2 newborn infants with the unusual presentation of intrinsic brainstem tumors. Both nondysmorphic, full-term neonates had cranial nerve palsies and hypotonia. Diagnoses of diffuse intrinsic brainstem gliomas were made on the basis of magnetic resonance imaging, which showed large expansive, nonenhancing intrinsic pontine masses. Intrinsic pontine tumors, characteristically seen in school-age children, are most often high-grade gliomas that are almost invariably fatal. However, the microanatomy and natural history of pontine tumors in neonates are unknown. With parental consent, both newborns were treated expectantly with supportive care but died of progressive disease by 2 weeks of age. In one child, postmortem examination revealed a primary brainstem primitive neuroectodermal tumor. The authors conclude that, as in older children, neonatal intrinsic brainstem tumors may be of a highly malignant nature. The rapid tumor progression in both cases indicates that where a diagnostic procedure may pose significant risks, supportive observation can aid in distinguishing malignant from benign tumor growth.     

小儿非功能性胰岛细胞瘤临床诊断与治疗

目的 探讨小儿非功能性胰岛细胞瘤的临床特点，诊断及治疗。方法 回顾性分析4例非功能性胰岛细胞瘤患儿的临床资料。结果 小儿非功能性胰岛细胞瘤生长缓慢。临床症状不典型，以腹部疼痛时轻时重、右上腹部肿块为主，肿瘤均可完整切除。结论 小儿非功能性胰岛细胞瘤的临床特点以腹部疼痛、肿块为主，诊断方法依靠B超，钡餐透视和CT相结合，治疗原则是尽量完整切除肿瘤。     

Blueberry Muffin Baby and spontaneous remission of neonatal leukaemia]

Blueberry Muffin baby is a rare neonatal skin disorder. Many causes are known, examples are congenital infections, hemolysis and tumors. We report on a newborn presenting with Blueberry Muffin syndrome and an adrenal mass which lead to the diagnosis of neuroblastoma. Actually, it corresponded to an acute monoblastic leukaemia with an adrenal localization and a cerebrospinal fluid involvement. Leukaemia should always be considered in such patients, even in the absence of blasts on white blood cells count and bone marrow examination, as in this patient. This observation was also unusual due to spontaneous remission. The patient is in complete remission at 1 year follow-up.     

Stress response and its relationship to cystic (pseudofollicular) change in the definitive cortex of the adrenal gland in stillborn infants.

The adrenal glands of 41 fresh stillbirths were studied and a ''stress response'' pattern could be seen in 28. In these glands the stress response was characterised by compact cell change, lipid depletion, excess pyroninophilia, and dilatation of the very prominent granular endoplasmic reticulum. Scattered areas of cytolysis of cells, especially of the definitive cortex, gave rise to the commonly seen cystic (pseudofollicular) change and it was obvious that cells undergoing lysis were severely ''stressed''. In 2 infants there was a ''clear cell reversal'' pattern. Histological and ultrastructural changes of the stress response were not identified in 11. Infants of low birthweight score were somewhat more commonly represented in the group that did not show a stress response. Cytolytic changes accompanying a stress response were commoner in immature infants. It is argued that cystic (pseudofollicular) change in the adrenal cortex of the newborn signifies a previous stress reaction.     

Massive congenital intracranial immature teratoma of the lateral ventricle with retro-orbital extension: a case report and review of the literature

Germ cell tumors comprise 0.4-3.1% of all intracranial tumors, and teratoma constitutes 9-30% of them. Congenital intracranial tumors are very rare and only account for 0.5-1.5% of all childhood brain tumors. The most common type of these tumors present at birth is teratomas, which represent 0.5% of all intracranial tumors. Most teratomas are midline tumors located predominantly in the sellar and pineal regions. In this study, we report a neonatal intracranial immature teratoma at the lateral ventricle because of its rare location. A 5-day-old female neonate presented with a history of irritability and left eye protrusion since birth. A head computed tomographic (CT) scan and magnetic resonance imaging (MRI) disclosed a large tumor filling the left lateral ventricle and extending into the ipsilateral retro-orbital space. With left frontotemporoparietal craniotomy, a large grayish-white lobulated vascular mass was encountered, and total removal of tumor was performed. Histological examination revealed the diagnosis of immature teratoma. The prognosis of congenital intracranial immature teratoma is usually poor because the lesions are extensive when they are identified. Prenatal ultrasonography is necessary for the prenatal diagnosis. Fetal MRI should be made for the evaluation of intracranial tumor. If the tumor is detected before the 24th week of gestation, termination of the pregnancy should be considered.