Prenatally detected congenital medulloblastoma.

We describe a congenital cerebellar mass in a fetus at 30 weeks GA. The lesion is detected at the prenatal third-trimester ultrasound, confirmed by fetal MRI, and determined as medulloblastoma in postmortem pathologic evaluation.

Congenital medulloblastoma presented in the neonatal period

Congenital medulloblastoma is a rare brain tumor that appears in less than 1% of pediatric patients. Congenital medulloblastoma has a poor prognosis and should be suspected in patients with clinical manifestations of hyporeactivity, slow suction reflexes, and the presence of hydrocephalus. Herein we present the case of a 12-day-old female newborn who developed non-communicative hydrocephalus, hyporeactivity, and hyporeflexia. Magnetic resonance imaging of her brain showed a heterogeneous and cystic mass on the posterior cranial fossa. A suboccipital craniotomy was performed. The histopathologic analysis reported a congenital medulloblastoma. She remained in hospital until her death at 112 days old. This is one of the first case reports with clinical-radiological and pathological documentation. Awareness of this diagnosis can allow prenatal intervention, rendering a better prognosis. This case report exemplifies the importance of good prenatal follow-up.

Congenital medulloblastoma: Fetal and postnatal longitudinal observation with quantitative MRI.

Congenital medulloblastoma is extremely rare. MRI appearance of this tumor in the fetal brain has not been described. A case of congenital medulloblastoma initially observed by antenatal MRI with postnatal follow-up and treatment is presented. A pregnant female underwent fetal MRI on the 31st gestational week for routine indications. Midline cerebellar lesion of ≤2 cm in size with minor T2 hypointensity and T1 hyperintensity was identified. Additionally, quantitative MRI including apparent diffusion coefficient (ADC) and fast macromolecular proton fraction (MPF) mapping was performed. The lesion showed a marked ADC decrease and MPF increase. MPF maps depicted the lesion most conspicuously. After term delivery, a male neonate presented with symptoms of increased intracranial pressure. Postnatal MRI identified obstructive hydrocephalus caused by a large posterior fossa mass. The child was treated by cerebrospinal fluid shunt placement. Follow-up quantitative MRI on the fifth month revealed tumor growth and vivid changes of its tissue contrast associated with brain maturation. The tumor appeared nearly isointense on T1- and T2-weighted images and slightly hypointense on the ADC map. MPF contrast showed the most remarkable change from hyper- to hypointensity due to brain myelination with stable MPF in the tumor. Subsequently, the child underwent partial tumor resection, and currently continues treatment with chemotherapy. The pathological diagnosis was desmoplastic/nodular medulloblastoma. The described case illustrates evolution of the tumor contrast in the course of fetal and postnatal brain development and highlights the added diagnostic value of MPF mapping in fetal and neonatal neuroimaging.

[Congenital medulloblastoma associated with intracranial arachnoid cyst]. / Meduloblastoma congénito asociado a quiste aracnoideo intracraneal.

Arachnoid cysts are very common lesions in paediatric patients, with treatment depending on their location and symptomatology. They are usually solitary cysts but may be associated with other central nervous system diseases such as tumours and congenital deformities. We describe the case of a neonate diagnosed with an arachnoid cyst of the quadrigeminal cistern treated by endoscopy. After the operation, the child's condition worsened; a CT scan revealed a midline posterior fossa tumour not visible in the preoperative neuroradiological tests. The tumour, a medulloblastoma, was partially removed. Given the child's age and the poor prognosis, oncological treatment was not undertaken. The association between medulloblastoma and arachnoid cyst is very rare, and we could find only one such case in the literature.

Diagnosis and management of brain and spinal cord tumors in the neonate.

Congenital central nervous system (CNS) tumors are rare, accounting for <5% of childhood CNS tumors. Although the definition remains arbitrary, 'congenital' is often defined as CNS tumors diagnosed at birth or within a few months after birth. Congenital CNS tumors are now increasingly detected on prenatal ultrasound, with polyhydramnios as the most frequent finding. After delivery, most congenital CNS tumors are associated with macrocrania and hydrocephalus. Teratomas are the most common congenital CNS tumors; other common tumors include astrocytomas, embryonal tumors such as medulloblastomas, and choroid plexus tumors. Choroid plexus tumors (predominantly papillomas) have the best outcome, as aggressive surgical resection can be curative. Other congenital CNS tumors have a collectively poor prognosis, although some subtypes may benefit from complete resections and chemotherapy. Given the rare incidences and diverse pathology of congenital CNS tumors, multicenter studies are required to accurately assess treatment efficacy and outcome measures.

Intracerebellar haematoma simulating congenital medulloblastoma during neonatal period.

The authors report a case of intracerebellar haematoma occurring during the neonatal period. A 5-day-old baby girl was admitted because of poor feeding and the anterior fontanelle was tense. CT scan of the brain revealed a round mass at the cerebellar vermis; the lesion simulated a cerebellar tumour such as a medulloblastoma. The mass was surgically removed and found to be an intracerebellar haematoma. The clinical and radiologic characteristics are discussed.

Congenital tumors of the central nervous system: the MCH experience.

INTRODUCTION: Congenital brain tumors in the younger pediatric population are rare lesions that are histologically distinct from those in the older pediatric population. Malignant histology is common, with persistently poor outcomes despite accessible neuroimaging and evolving adjuvant therapy. There remains scant literature about the natural history of these patients because of rarity and varied institutional experiences. METHODS: A retrospective review was performed of congenital brain tumor patients surgically treated at the Montreal Children's Hospital (MCH) over a 22-year period. Patients presenting in the first year of life were evaluated for demographic information, presenting symptoms, lesion location, and management. Analysis was by median rank test and chi(2) statistics. RESULTS: 13 cases of congenital brain tumors were identified: 5 supratentorial and 8 infratentorial. Median age (p = 0.93) and gender (p = 0.57) did not differ by location, and predominant histologies were choroid plexus papilloma and primitive neuroectodermal tumor. Seizure activity was exclusive to supratentorial lesions (40%, p = 0.03), with hypotonia observed only among infratentorial lesions (50%, p = 0.02). There was equal incidence of hydrocephalus (69%, p = 0.57) and increasing head circumference (38%, p = 0.27) by lesion location. Supratentorial lesions were treated by total resection (n = 3), subtotal resection (n = 1), and biopsy (n = 1). Infratentorial lesions were treated by total resection (n = 1), subtotal resection (n = 2), biopsy (n = 1), no operation (n = 2), and decompressive laminectomy for two spinal lesions. CONCLUSIONS: Congenital brain tumor patients represent fewer than 2% of patients treated at MCH. An evolving understanding of management objectives for these lesions requires understanding institutional experiences. Patients with supratentorial lesions frequently present with seizures, hydrocephalus, and macrocrania, and more frequently underwent total resection at surgery.

Congenital brain tumor in a neonate conceived by in vitro fertilization.

Congenital brain tumors are very rare; their incidence is estimated at 0.34 per million live births. We report a case of congenital gliosarcoma in a neonate conceived by in vitro fertilization (IVF). One other case of brain tumor (medulloblastoma) is reported in a child born after assisted conception. Whether these tumors are causally related to the IVF remains obscure.

Case of acrania associated with congenital medulloblastoma.

A case of acrania associated with medulloblastoma, agenesis of the cerebellum, and nasoshizis, is reported. The diagnosis of acrania was made at the 20th gestational week by sonographic examination. To our knowledge, this is the first report of fetal acrania associated with congenital brain tumor.

Primary intracranial neoplasms of infancy and early childhood.

We investigated the age-related location, gender distribution, and histology of 107 brain tumors in children under 4 years of age seen in our department between 1984 and 1997. The male-to-female ratio was 1.4 (62/45 cases) with a prevalence of supratentorial tumors (60/47 = 1.3); the main histological entity was astrocytoma (33.6%), followed by ependymoma (14.0%). In the 1st year of life 22 cerebral neoplasms became clinically apparent. A higher ratio for supratentorial tumors was revealed (17/5 = 3.4), but without gender preference, and primitive neuroectodermal tumors (PNET) were the most frequent (5/22). In the 2nd year 25 tumors were found. The male-to-female ratio was 1.5 (15/10) and the supratentorial-to-infratentorial ratio, 1.1 (13/12). The two most common entities were astrocytoma and ependymoma (6 cases each). In addition, a survey of previously published investigations into this subject was performed and a compilation of data on 1960, 545 and 1084 tumors in children below the age of 1, 2 and 4 years, respectively, was prepared, which makes it the most extensive review of brain tumors of infancy and early childhood yet undertaken.

Congenital CNS primitive neuroectodermal tumor: case report and review of the literature.

A 30-week gestational age male fetus was found to have a congenital neoplasm involving the posterior cranial fossa, identified by fetal ultrasound examination in utero. Histological and immunohistochemical examination confirmed a diagnosis of primitive neuroectodermal tumor (PNET) of the posterior fossa, also referred to as medulloblastoma. Although PNETs have been well documented, there are relatively few reports of these occurring as congenital neoplasms. We present a case of an in utero, congenital PNET with a review of the literature and discussion of the criteria defining congenital tumors.

High frequency of telomeric association in a family with multiple congenital neoplasia.

Chromosomal analysis of the peripheral blood cultures of a married couple whose second pregnancy gave birth to twin daughters with multiple congenital malignancies revealed normal karyotypes of 46,XX and 46,XY, respectively. However, in the father's blood, 23.3% of metaphases showed telomere-telomere associations involving single-single and double-double chromatids. Such associations were not observed in the metaphases of the mother. We speculate from these observations that the father's genotype may somehow be responsible for the congenital malignancies in their twin daughters.

Posterior dural arteriovenous malformation and medulloblastoma in an infant: case report.

A newborn is described who presented with heart failure from a posterior dural arteriovenous malformation and had a coexisting congenital medulloblastoma. There have been sporadic reports of arteriovenous malformation and brain neoplasms in older children and adults, and these have generally been glial tumors. This is the first known case of a combined congenital primitive neuroectodermal tumor and arteriovenous malformation in an infant.

Intracranial tumours in the first year of life. A report on 51 cases.

The authors report on 51 infants with intracranial tumours treated in an eleven-year period; these infants represent 13% of the total population of children with intracranial tumours who have been operated on in the same institution during the same period of time. Males (28 cases) were slightly more frequent. Astrocytomas (17 cases), medulloblastomas (12 cases), and ependymal tumours (5 cases) were the commonest histologic types. Signs and symptoms of increased intracranial pressure were by far the most frequent clinical manifestations, followed by seizure disorders. Thirty tumours were localized within the supratentorial, and 21 within the subtentorial compartment. The parasellar region (10 cases) and the lateral cerebral ventricles (8 cases) for the supratentorial tumours, the inferior cerebellar vermis and fourth ventricle (13 cases) for the infratentorial tumours appeared to be the preferred topographic locations. Craniotomies were carried out in 44 infants, with a total or radical removal of the tumour in 19 cases, a subtotal removal in 6 cases, and a partial removal in 17 cases. In 3 cases only a biopsy procedure was performed. Twenty-nine of these patients required an ancillary procedure such as CSF shunting. Three subjects underwent a biopsy procedure and 1 infant the insertion of a CSF shunting device only. Surgery was not performed in 5 cases. Overall, there were two surgical deaths. Two infants died before any surgical treatment could be performed. Radiation therapy was administered to 9 patients when they had reached three years of age. Chemotherapy was given to 21 infants, according to various chemotherapeutic protocols. During the postoperative period 20 deaths (39%) were recorded. Two patients were lost to follow-up. From 1 to 10 years after the operation, 29 patients are still alive, 14 of them (28%) with a normal psychomotor development, 10 (20%) with some neurological or mental deficits, and 5 (10%) with severe psychomotor retardation. There was no apparent correlation in this series between late outcomes and the histological type of the tumour.

Congenital brain tumors in Japan (ISPN Cooperative Study): specific clinical features in neonates.

The authors present specific clinical features of brain tumors occurring in immature brain in comparison with those of older infants and children. Twenty-six neonatal brain tumors, which accounted for 11.3% of 231 brain tumors diagnosed in the 1st year of life collected in a cooperative study in Japan, were analyzed. Although astrocytomas were invariably common tumors in each age group, comprising 25.0% for all pediatric brain tumors, teratomas were the most common type of neonatal brain tumors and accounted for 33.4% in this age group. Location of tumors in the immature brain was more striking, involving the posterior fossa region less commonly, as in 11.1% in neonatal, 29.5% in infantile, and 41.4% in all pediatric age groups. Surgical intervention was performed in 97.4% of the infantile and 79.1% of the neonatal cases, but total or subtotal resection of the mass was achieved only in 58.9% in the infants and 73.7% in the neonates. There was more strict limitation in performing the adjuvant therapies in the immature age groups. Radiation therapy and chemotherapy were given only in 32.0% and 27.6%, respectively, in the neonatal cases. The prognosis was extremely poor in the immature cases: 1-year, 5-year, and 10-year survival rates were 59.3%, 26.1%, 11.5% in the infants, and 43.5%, 23.8%, 7.1% in the neonates, respectively. Of the neonates, 76% and of the infants 73.1% were retarded. The present study delineates the characteristic clinical features of tumors involving immature brain and emphasized that establishment of more specific therapeutic modalities is urgent.

Rhabdoid 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.

Congenital brain tumours: diagnostic and therapeutic approach. With a report of 3 cases.

Three cases of congenital brain tumours are reported, which presented with signs of increased intracranial pressure soon after birth, giving rise to the suspicion of a cerebral haemorrhage or of hydrocephalus. Correct diagnosis of tumour was established by computerised tomography, which additionally demonstrated a concomitant haematoma in each case. Two of the newborns had a primarily fatal course, with no specific treatment of the tumours being feasible. The remaining child underwent two operations, experiencing an unhindered neurologic and mental development thereafter. The histologic diagnoses were spongioblastoma and medulloblastoma in the first two cases, and ganglioneuroblastoma in the last. A conspicuous clinicopathologic feature of this neuroblastoma was the marked change in its growth pattern, revealing a higher degree of histologic differentiation and less malignant biological behaviour when tumour regrowth occurred. The diagnostic, therapeutic, and prognostic implications for this special clinicopathologic condition are discussed, with a review of the relevant literature.