Congenital Brain Tumors Research Articles

Congenital Gliosarcoma: Detailed Clinicopathologic Documentation of a Rare Neoplasm

Congenital brain tumors are rare. Clinically, they often result in macrocrania, hydrocephalus, and focal neurologic deficits. Fetal onset may result in dystocia and stillbirth. Antenatal detection is becoming more common as the result of neuroimaging, and modalities such as magnetic resonance imaging can assist in narrowing the pathologic differential diagnoses. Teratomas and astrocytomas appear to be the most common congenital neoplasms. Amongst the latter, all grades and many subtypes are represented in the congenital time period, including the diffusely infiltrative forms of astrocytoma. Gliosarcoma is currently considered a variant of glioblastoma (i.e., astrocytoma, World Health Organization grade IV) that exhibits genetically similar yet phenotypically separate histologic regions of high-grade astrocytoma and sarcoma. Only rare instances of congenital gliosarcoma have been reported. We detail the case of a 1-day-old term male who presented with macrocrania, hydrocephalus, and signs of increased intracranial pressure. Pathology revealed evidence of a classic gliosarcoma.

Congenital Gliosarcoma: Detailed Clinicopathologic Documentation of a Rare Neoplasm

Congenital brain tumors are rare. Clinically, they often result in macrocrania, hydrocephalus, and focal neurologic deficits. Fetal onset may result in dystocia and stillbirth. Antenatal detection is becoming more common as the result of neuroimaging, and modalities such as magnetic resonance imaging can assist in narrowing the pathologic differential diagnoses. Teratomas and astrocytomas appear to be the most common congenital neoplasms. Amongst the latter, all grades and many subtypes are represented in the congenital time period, including the diffusely infiltrative forms of astrocytoma. Gliosarcoma is currently considered a variant of glioblastoma (i.e., astrocytoma, World Health Organization grade IV) that exhibits genetically similar yet phenotypically separate histologic regions of high-grade astrocytoma and sarcoma. Only rare instances of congenital gliosarcoma have been reported. We detail the case of a 1-day-old term male who presented with macrocrania, hydrocephalus, and signs of increased intracranial pressure. Pathology revealed evidence of a classic gliosarcoma.

Congenital glioblastoma

We describe the case a 2-day-old female with congenital glioblastoma. Total resection was followed by adjuvant and high dose chemotherapy, as indicated by the current Italian infant protocol. The child is alive and well 18 months after diagnosis. A review of 67 selected congenital brain tumors showed the mortality rate was 82%. Even though the majority of patients had glioblastoma, only 5/67 had received adjuvant therapy. To ensure optimal outcomes, we recommend total or subtotal surgical resection, followed by adjuvant and high dose chemotherapy. Given the lack specific protocols for congenital brain tumors an international consensus seems to be needed, starting with congenital glioblastoma.

Gliosarcoma – Clinico-pathology, Genetics and a Review of Rare Congenital Cases

Congenital brain tumours are rare. In general, they are preferentially located in the supratentorial compartment, and despite the occurrence of low-grade entities, these tumours are associated with a very poor prognosis. When strictly defined, the most common forms of congenital neoplasia are teratomas and astrocytomas. Among the astrocytomas, all grades (World Health Organization [WHO] I–IV) and many of the different subtypes are represented. This includes the most prognostically worrisome ‘diffusely infiltrating’ astrocytomas. Gliosarcomas are a variant of glioblastoma (i.e. WHO grade IV astrocytoma) that exhibits both malignant astrocytic (i.e. glioblastoma) and mesenchymal (i.e. sarcoma) components. Despite their bi-phasic histology, genetic analyses of adult gliosarcoma cases suggest not only a molecular profile similar to glioblastoma, but also a monoclonal histogenesis for the glial and sarcomatous elements. Congenital gliosarcomas are extremely rare, with only a handful of cases being described in the literature. Not surprisingly, therefore, detailed clinical, pathological and genetic data are limited. However, based on a recent analysis of congenital glioblastomas, congenital gliosarcomas may constitute an entity that is genetically and prognostically distinct from adult cases.

Intracranial Hemorrhage in Children

Nontraumatic intracranial hemorrhages (ICHs) are uncommon in children, but are important causes of death and injury. To determine whether the risk factors for ICH have changed compared with those in earlier published series and to estimate the residual deficits in the survivors. We performed a retrospective review of patients admitted to a single tertiary care, academic pediatric hospital from January 1, 2000, through May 31, 2007. Records were retrieved if the diagnostic codes from the International Classification of Diseases, Ninth Revision, were pertinent to ICHs. We searched reports from computed tomograms and magnetic resonance images of the brain for terms pertaining to ICH. Risk factors and functional outcome. Secondary measures were hemorrhage type and clinical presentation. We identified 85 children who had nontraumatic ICH. There were 10 subarachnoid, 61 intracerebral, and 14 subdural hemorrhages. Intracranial vascular anomalies were the most frequent risk factor, followed by congenital heart disease and brain tumors. Arteriovenous malformations did not account for as large a percentage as in previous studies. Twenty-nine children died. Of the 48 survivors for whom follow-up information was available, 26 had no reported deficits and 22 had deficits ranging from mild to severe. In this series, brain tumors and congenital heart disease accounted for a greater proportion of ICHs than in previous studies. The mortality due to ICH remains high but may be related as much to the severity of the underlying illnesses as to the hemorrhage itself. We found significant long-term morbidity, but more than half of the survivors for whom follow-up data were available had no detectable deficits. A long-term outcome study of pediatric ICH is needed.

Early second‐trimester diagnosis of intracranial teratoma

Congenital brain tumors are rare and, whether diagnosed prenatally or postnatally, the most frequent type is teratoma. Prenatal diagnosis relies on sonography and magnetic resonance imaging, and is usually achieved during the second or third trimester. We report a case of an intracranial tumor diagnosed in the early second trimester. The diagnosis had been suspected at first-trimester routine sonography, which showed a compressive intracranial mass with mild vascularization. Because of the poor prognosis, termination of pregnancy was discussed with the parents and was carried out at 14 weeks of gestation. Postmortem examination provided a diagnosis of right frontal immature teratoma.

Congenital Brain Tumors

Congenital brain tumors are rare and make up only 2% of all pediatric central nervous system tumors. We present 12 cases of congenital brain tumors of various histopathologies. Most of these tumors were of astrocytic lineage. One patient was diagnosed before birth with prenatal ultrasound, but the rest were diagnosed after birth owing to increased head circumference. Four patients received adjuvant chemotherapy after surgery. None received radiation therapy. Seven out of 12 (58%) are long-term survivors. Four of these survivors (57%) have significant neurocognitive or psychomotor impairment. Although rare, congenital brain tumors are one of the more common tumors presenting in the perinatal period and generally carry a poor prognosis. Novel therapies are needed to improve efficacy and decrease the devastating side effects of treatment in this age group.

Cranial sonography in term and near-term infants

Sonographic patterns of brain injury in the term and near-term infant are quite different from those in the premature infant. Although periventricular leukomalacia and germinal matrix hemorrhage are rarely seen in term infants, selective neuronal injury, parasagittal infarction, focal stroke, diffuse hypoxic-ischemic injury, and deep parenchymal hemorrhages are more common lesions. In addition, congenital brain tumors, hamartomatous lesions, such as hemimegalencephaly, and tuberous sclerosis can mimic ischemic and hemorrhagic injury. Sonography remains an important tool in the initial evaluation of intracranial abnormalities in critically ill term and near-term infants. An understanding of the differences in etiology, sonographic patterns, and limitations of sonography in the term infant is essential for accurate and effective diagnoses in this age group.

P50.16: First trimester diagnosis of cerebral teratoma

Congenital brain tumors are rare and have an incidence of 3 to 4/100 000 among live births. Teratomas are the most frequent histological type of brain tumors and represent about 62% of cases. Diagnosis relies on fetal ultrasound and is usually made during second or third trimester. We report herein a case of first trimester diagnostic of cerebral teratoma. A 35-year-old gravida 5, para 1 woman was referred at 13 weeks of gestation after first trimester routine scan because of an intracranial mild hyperechoic lesion. The lesion measured 12 mm of diameter and was located in the right frontal area. It was well-defined, rounded, echoic and homogenous with few hyperechogenic spots. Colour Doppler showed a mild vascularization into the lesion. The other cerebral structures had a normal appearance but midline was moved on the left in its anterior part. There was no extra-cranial abnormality. Nuchal translucency was measured at 1.4 mm, crown rump length at 70 mm and biparietal diameter at 25 mm. Fetal karyotype was normal, 46 XY. Despite the lack of anterior description of such a case in the literature during the first trimester, the diagnosis of teratoma was suspected antenatally because the mass showed all ultrasonographic criteria of such an anomaly. Because of the early appearance of the lesion and its large size, prognosis was considered to be poor and a termination of pregnancy was achieved at 14 weeks of gestation, according to French laws. Labour was induced by intravaginal misoprostol. Postmortem examination confirmed the diagnosis.

Longitudinal CT and MR appearances of hemimegalencephaly in a patient with tuberous sclerosis

A 3-day-old baby was referred to our institution with seizures since birth and a presumptive diagnosis of cerebral tumor detected by prenatal ultrasound. Computed tomography (CT) and Magnetic Resonance (MR) imaging performed immediately after birth revealed the presence of an enhancing mass in the left cerebral hemisphere. The possibility of a congenital malignant brain tumor was considered. Although surgery was advised, the parents opted for conservative medical management. The infant was under treatment for seizures with antiepileptic drugs. At 7-month follow-up, there was a noticeable increase in the seizure activity with signs of developmental delay and increased head circumference. Repeat CT and MR imaging showed features of hemimegalencephaly with a calcified mass involving the left hemisphere. The patient was diagnosed to have tuberous sclerosis. This case report illustrates how an enhancing mass (possibly a tuber) over a period of time diminishes in size and becomes calcified in a patient with tuberous sclerosis and associated hemimegalencephaly.

Recurrent Concusions - Football

HISTROTY: A 19-year-old male collegiate quarterback with a history of two previous mild concussions during his high school career presented for evaluation of two recent concussions. The first concussion occurred at football practice, when he was struck in the head by a football thrown from 30 yards away. He sustained a loss of consciousness (LOC<30 sec) and a headache prompting a visit to the emergency room. CT scan of the head was unremarkable and his symptoms resolved over the next twenty-four hours. He progressed his activities and returned to competition one week later. The second concussion occurred at that game when he sustained trauma to his head. There was no LOC, but he noted decreased concentration and dizziness causing him to be pulled from the game. PHYSICAL EXAMINATION: -He was alert and oriented to person, place and time. Head and neck examination reveals no evidence of trauma and no tenderness to palpation. Pupils were normal and equally reactive to light and accommodation. Cranial nerves II-XII were intact. He had normal range of motion of the cervical spine and upper extremities. He had normal strength, sensation and reflexes of the upper and lower extremities. Romberg testing was normal. Immediate memory and 5 minute recall was normal. Performance of finger-nose-finger and heel-shin-heel was normal. He was able to perform serial 7's, repeat up to 7 digits forward and backwards. He was able to perform push-ups and sprints without any symptoms. DIFFERENTIAL DIAGNOSIS: Recurrent mild traumatic brain injury Focal brain injury Congenital brain vascular malformation Brain tumor TESTS AND RESULTS: - MRI of Head/Neck: Grade 1 Arnold Chiari malformation with the cerebellar tonsils 9mm below the foramen magnum -Neuropsychologic testing: Normal, though lower performance with higher level executive function (no baseline) FINAL/WORKING DIAGNOSIS: Recurrent mild concussions Grade I Arnold-Chiari malformation TREATMENT AND OUTCOMES: No participation in practice or game for 4 weeks Consultation with multiple physicians regarding return to play: consensus that no to minimal increased risk for sports participation Counseling of athlete, parents, coaching staff and medical team Functional progress of exercise activity to sports specific Return to play at 4 weeks without any recurrent concussions

Congenital glioblastoma multiforme: A case report and review of literature

Congenital brain tumors are very rare neoplasms. The diagnosis of glioblastoma multiforme in a newborn infant is a rarity. Prognosis of congenital glioblastoma has been uniformly fatal with most of the cases reported in literature having a very short survival in spite of all modalities of treatment. The authors report a case of congenital glioblastoma involving the pan right cerebral hemisphere in a two month-old infant who expired six months after tumor decompression. Literature is reviewed in light of the present case and various treatment modalities for this rare tumor are highlighted.

A report of nine newborns with congenital brain tumours

Although rare, brain tumours represent one of the relatively larger groups of congenital neoplasias. Most studies on congenital neoplastic disease deal with several types of neoplasms and are dominated by leukaemias, retinoblastomas and systemic solid tumours. Few studies are dedicated to congenital brain tumours. We present nine newborns (four boys and five girls) who were diagnosed with congenital brain tumours during the 8-year period 1 January 1992-31 December 1999 at our institution, which covers all paediatric neuro-oncology cases for Eastern Denmark. Two of the cases were referred from Western Denmark for surgery, and were therefore excluded from the calculation of incidence. During the same period, a total of 172 children below the age of 15 years were diagnosed as having primary central nervous system tumours. The seven remaining congenital cases thus represent 4% of all paediatric brain tumour cases in the area (95% confidence interval 1.7-8.3%). The population of the referral area is 2.383x10(6), and based on the total number of living births, the incidence of congenital brain tumour was calculated to be 2.9 per 100,000 live births. The ages of the mothers were 28-33 years, corresponding to the present mean age of 31 years for Danish primipara. The gestational age varied between 35 and 42 weeks, and the birth weights were 3,044-4,790 g. Two patients with p53-related glioblastoma multiforme (GBM) had relatives with p53-related neoplasms. In one case, the mother was treated for cancer of the ovary with surgery and chemotherapy 2 months before conception. In five of the cases, brain abnormality was suspected antenatally. The clinical features of the newborns were limited to enlarged head circumferences, associated hydrocephalus, and asymmetric skull growth. Three babies were treated with complete tumour resection. In the remaining six cases, a guided or open biopsy to obtain histology was made after CT/MRI imaging. The histological diagnoses were teratoma in four cases, GBM in two cases, anaplastic astrocytoma in two cases and, finally, haemangioma capillare in one case. Four of the patients (44%) are still alive, including two patients with totally resected combined orbital/intracranial teratomas, one patient with a totally resected haemangioma and one patient with anaplastic astrocytoma who did not receive any treatment apart from supportive care. The survival lengths of the five neonates who died varied between 1 day and 51 days.

A report of nine newborns with congenital brain tumors

Congenital brain tumors are devastating problems that usually result in the death of the child with a high level of permanent disability in survivors. Most of these children are very large and presentation with macrocephaly is the rule leading to the need for many of these babies to be delivered by caesarian section. For the purpose of communication, it is essential that we use words precisely and that a word means the same thing to all readers. While the classification that the authors suggest is understandable and reasonable, there seems to be an acceptance of the diagnosis of “congenital tumors” to relate to diagnosis in utero or in the first 28 days of life. Is there a compelling reason to change that definition? There is reason to believe that many of the tumors that are found early in life were indeed “congenital,” including most primitive neuroectodermal tumors. The use of the term, though, must mean that the tumor is diagnosed in the perinatal period. This diagnosis carries with it a large number of issues regarding management and the ethics of the treatment of babies diagnosed at this very fragile stage of development. Should any treatment be offered to these babies? In this series, four of the nine patients survived, of which, three are said to have normal development. One of these patients had a posterior fossa capillary hemangioma, which, it might be argued, is not a tumor at all. The surviving patient with an astrocytic tumor and the patient with a capillary hemangioma were managed without adjunctive chemotherapy or radiation therapy. We were not told whether adjunctive chemotherapy was utilized in the patients with intracranial and orbital teratomas who survived with good outcomes. These babies are a great challenge, and in the very young the outcome may not be obvious. We have treated four infants with huge supratentorial malignant astrocytic tumors with staged resection followed by chemotherapy, with longterm survival in three of the patients. It is clear that there is a significant cognitive cost of the treatment of the effect of the tumor. To develop a significant algorithm for the diagnosis and management of these rare and devastating tumors, a great deal of energy would be needed to produce a registry of tumors in the very young. The fact that there were four survivors and that three of these had good developmental outcomes would make it truly valuable to have such a registry, not so much for epidemiology, which would be very difficult, but to find some information to define hopeful cases at the onset. This would be an excellent project for the education committee of the International Society for Pediatric Neurosugery, with the help of the editorial board of Child’s Nervous System. Childs Nerv Syst (2006) 22:1433 DOI 10.1007/s00381-006-0116-5

Congenital pineoblastoma and parameningeal rhabdomyosarcoma: concurrent two embryonal tumors in a young infant

Pineoblastomas are very rare brain tumors in fetus and neonates, comprising only 0.9% of congenital brain tumors. The occurrence of multiple tumors of different histopathologic types in the same individual is a rare event, most often encountered in hereditary cancer syndromes. We report a female fetus presented with a congenital pineoblastoma at the 32nd week of gestation, with hydrocephalus and concurrent parameningeal embryonal rhabdomyosarcoma in early infancy. Cytogenetic analysis showed normal karyotype in the peripheral blood of the patient, and p53 mutational analysis revealed no germ line mutations. This is the first case with concurrent congenital pineoblastoma and parameningeal embryonal rhabdomyosarcoma in early infancy. We suggest that concurrence of these tumors could be due to mutations in other tumor suppressor genes or secondary to exposure to unknown in utero factors.

A congenital brain tumor associated with assisted in vitro fertilization

In this report the authors describe the clinical features of a rare neonatal anaplastic astrocytoma in the setting of in vitro fertilization (IVF). The infant had been conceived using IVF and was born full term to a 29-year-old prima gravida mother. At birth, the baby boy was irritable and demonstrated poor feeding. Cranial ultrasonography and magnetic resonance imaging revealed an echogenic mass in the left hemisphere with midline shift and hydrocephalus. Grosstotal resection of an anaplastic astrocytoma was followed by chemotherapy with temozolomide and vincristine. Previous cases of neonatal brain tumors occurring in the setting of assisted reproduction are reviewed. A possible association between IVF and congenital neuroepithelial tumors is highlighted.

Congenital gemistocytic astrocytoma in a fetus

Congenital brain tumors, especially tumors diagnosed before birth, are very rare. This report presents a case of a congenital gemistocytic astrocytoma diagnosed by antenatal intrauterine ultrasound. An intrauterine MRI revealed hydrocephalus and a mass lesion including massive hemorrhage in the right occipital lobe of a fetus. The patient was delivered by cesarean section and a total excision of the hemorrhagic tumor was carried out on the third day of his life. The histological study revealed gemistocytic astrocytoma (WHO grade II). Neither adjuvant chemotherapy nor radiation was given after the first surgery. Ten months after his birth, a recurrent tumor was depicted on follow-up MRI. The second total excision of the recurrent tumor and chemotherapy using cisplatin and vincristine were performed. The patient is free of disease at the age of 2 years and 6 months.

Endoscopic biopsy interpretation difficulties in a congenital diffuse intracranial teratoma

Congenital brain tumours are a rare entity that is nowadays often already recognised during pregnancy by ultrasound (US) and magnetic resonance (MR). Even though the definitive diagnosis is usually achieved by means of histological studies, in some cases the diagnosis may remain uncertain because of the malformative origin of this type of tumour. We describe a patient with a diffuse congenital intracranial mass diagnosed by intrauterine US and foetal MR performed to further evaluate the lesion and the associated foetal hydrocephalus. After delivery by caesarean section, an endoscopic biopsy was performed. Several specimens were obtained and resulted in the diagnosis of primitive neuroectodermal tumour (PNET). Despite polychemotherapy, the tumour continued to enlarge and the patient died at 2 months of age. Post-mortem histological examination of the intracranial mass showed a diffuse intracranial teratoma. Endoscopic biopsy specimen examination resulted in a diagnosis that was not confirmed by post-mortem findings. The scarce differentiation of teratoma components and their high variability in histomorphology as well as the huge size of the tumoral mass may limit the interpretation of endoscopic biopsy specimens, even when multiple and obtained from different areas.

Tumores cerebrales congénitos: presentación de nueve casos y revisión de la literatura

To review congenital brain tumors patients younger than 2 months diagnosed in our Department. Nine congenital brain tumors were diagnosed between 1983 and 2001 among a consecutive serie of 484 paediatric cerebral tumors (patients less than 15 years). Clinical and radiological findings and prognostic factors are analyzed. There were two teratomas, two glioblastomas, one xanthogranuloma affecting cavernous sinus, one supratentorial PNET and one medulloblastoma and one oligodendroglioma. In one case histological diagnosis was not possible. In four cases antenatal diagnosis was done by means of ultrasonography and MRI. Seven patients were operated on, with one intraoperative exitus. Five patients died due to tumoral progression in the first two months after surgery. Another case was considered not amenable for surgical resection, and thus was not operated. He died in the fifth day of life. Three patients are alive 14, 36 and 72 months after surgery, one with severe psicomotor delay, another one with normal mental status but dependent on seizures medication and the last one with mild mental delay. In the last case of our serie intrauterine death happened by 33(rd )week and histological diagnosis was not possible. Prognosis for congenital brain tumors depends on the operative morbidity and tumor histology. However final prognosis in these patients is still discouraging, despite early surgery and operative and anaesthetic improvements.

Congenital Glioblastoma Multiforme: A Case Report

Congenital glioblastoma multiforme is relatively rare accounting for 2-9% of all congenital brain tumors. We deseribe a case of congenital glioblastoma multiforme which occurred in the lateral ventricle. T1-weighted images revealed high signal intensity, with areas of internal low signal intensity, while T2-weighted images showed low signal intensity with focal internal high-signal portions. Post-contrast T1-weighted images depicted a lateral ventricular mass which extended to adjacent brain parenchyme and had a serpentine signal void representing internal vessel.