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.

Síndrome afectivo-cognitivo cerebeloso secundario a tumor cerebeloso / Cerebellar cognitive affective syndrome secondary to a cerebellar tumour

El síndrome afectivo-cognitivo cerebeloso se caracteriza por alteración en funciones ejecutivas, problemas de organización y memoria visuoespacial, alteración en la producción del lenguaje y trastorno de conducta. Niño de 11 años con dificultades de aprendizaje, trastorno de conducta y problemas de interacción social. En la exploración física destaca conducta inmadura, escaso contacto visual, dificultad para mantener la atención, lenguaje expresivo pobre y disabilidad motriz global con dispraxia para las variantes de la marcha, sin signos cerebelosos definidos. Valoración neuropsicológica: cociente intelectual 84 con datos compatibles con síndrome afectivo-cognitivocerebeloso. RM cerebral: proceso expansivo en vermis cerebeloso inferior, que permanece estable tras 5 años de seguimiento. El cerebelo participa como centro coordinador de funciones cognitivas y emocionales. Ante un niño con un trastorno de aprendizaje con componente conductual y afectivo asociado debe incluirse la patología cerebelosa en el diagnóstico diferencial y descartar una lesión a este nivel

Cerebellar cognitive affective syndrome is characterized by disturbances of executive function, impaired spatial cognition, linguistic difficulties, and personality change. The case of an 11 year old boy is presented, with behavior problems, learning difficulties and social interaction problems. In the physical examination he had poor visual contact, immature behavior, reduced expressive language and global motor disability with gait dyspraxia, with no defined cerebellar motor signs. In the neuropsychological evaluation he has a full scale overall intellectual quotient of 84, with signs of cerebellar cognitive affective syndrome. A tumour affecting inferior cerebellar vermis was observed in the magnetic resonance imaging, which had not significantly grown during 5 years of follow up. The cerebellum participates in controlling cognitive and affective functions. Cerebellar pathology must be considered in the differential diagnosis of children with cognitive or learning disorder with associated behavioral and emotional components

[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.

Primary intracranial melanoma in a child with a giant congenital melanocytic naevus and normal MRI.

We present a case of a 10-year-old girl with a giant congenital melanocytic naevus, and malignant cerebral melanoma.

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 cerebellar mixed germ cell tumor presenting with hemorrhage in a newborn.

We report here on a neonate with congenital cerebellar mixed germ cell tumor, and this initially presented as cerebellar hemorrhage. Postnatal cranial ultrasonography revealed an echogenic cerebellar mass that exhibited the signal characteristics of hemorrhage rather than tumor on MR images. The short-term follow-up images also suggested a resolving cerebellar hemorrhage. One month later, the neonate developed vomiting. A second set of MR images demonstrated an enlarged mass that exhibited changed signal intensity at the same site, which suggested a neoplasm. Histological examination after the surgical resection revealed a mixed germ cell tumor.

A case of cerebellar capillary hemangioma with multiple cysts.

Intracranial capillary hemangiomas are very rare, though several spinal capillary hemangiomas have recently been reported. We report here a case of intracranial capillary hemangioma with multiple cysts and review the current literature of similar cases. A 4-month-old girl was referred to our hospital for treatment of hydrocephalus and a cerebellar mass lesion. She presented with hemangiomas distributed widely over the body, as well as disseminated hemangiomas in the pleura, liver, spleen, pancreas, kidneys and vagina. Pathological examination of the specimen from the vagina confirmed the diagnosis of a capillary hemangioma made at another hospital. Radiological examination of the brain revealed a cystic mass lesion in the left cerebellar hemisphere with subsequent obstructive hydrocephalus. The cysts extended upward into the bilateral ventricle. Following neuroendoscopic fenestration of the cysts, resection of the left cerebellar mass was performed. Histological examination of the lesion demonstrated similarly sized capillaries, and the pathological diagnosis was confirmed as capillary hemangioma. There was no recurrence postoperatively. Our patient was treated successfully by surgical resection and neuroendoscopic procedures. Surgical intervention may therefore be indicated in intracranial capillary hemangiomas.

Congenital Cerebellar Mixed Germ Cell Tumor Presenting with Hemorrhage in a Newborn

We report here on a neonate with congenital cerebellar mixed germ cell tumor, and this initially presented as cerebellar hemorrhage. Postnatal cranial ultrasonography revealed an echogenic cerebellar mass that exhibited the signal characteristics of hemorrhage rather than tumor on MR images. The short-term follow-up images also suggested a resolving cerebellar hemorrhage. One month later, the neonate developed vomiting. A second set of MR images demonstrated an enlarged mass that exhibited changed signal intensity at the same site, which suggested a neoplasm. Histological examination after the surgical resection revealed a mixed germ cell tumor.

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.

Congenital cerebellar primitive neuroectodermal tumor in a newborn.

Neonatal primitive neuroectodermal tumor is a rare clinical entity. The initial presentation in affected newborns is often subtle, nonspecific, and rarely includes neurological signs. Here we report a newborn with congenital cerebellar primitive neuroectodermal tumor. We had detected hydrocephalus and enlarged biparietal diameter at the 36th week of gestational age by fetal ultrasonography.

Atypical teratoid/rhabdoid tumor of the cerebellum: report of two infantile cases.

Atypical teratoid/rhabdoid tumor of the CNS is an aggressive infantile neoplasm of uncertain origin. In our two infantile cases, this tumor presented as a bulky cerebellar hemispheric mass with significant mass effect to the fourth ventricle and brain stem. Although the attenuation on CT and signal intensity characteristics at MR imaging of this tumor were similar to those of vermian medulloblastoma, cerebellar hemispheric location and aggressive growth pattern could be considered as different gross morphologic characteristics of this tumor. Despite intensive chemotherapy and radiation therapy, both of our two patients died within 8 months of pathologic diagnosis.

Fetal capillary haemangioblastoma: an exceptional tumour. A review of the literature.

We report a case of a fetal haemangioblastoma located in the cerebellopontine angle. On prenatal ultrasonographic examination a hyperechogenic and heterogeneous mass with a major vascularization on colour Doppler imaging was observed. It increased progressively and laminated the cerebellum. A neoplastic tumour was suspected but its extent into the cerebral peduncle was unclear. Diagnosis was made at autopsy using histological, immunohistochemical and flow cytometric evaluation. Haemangioblastoma is an exceptional congenital tumour, which is either sporadic or integrated in von Hippel-Lindau disease (VHLD). We discuss the obstetrical management of prenatal brain tumours and the genetic counselling of haemangioblastoma.

Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis.

Malignant rhabdoid tumors are highly aggressive childhood tumors. Recently, all of the malignant rhabdoid tumors, whatever their location, have been related to the inactivation of the hSNF5/INI1 gene. A subset of cerebral tumors, associated with malignant rhabdoid tumors or isolated ones arising in siblings, showed similar molecular alterations. We report for the first time in monozygotic twins a congenital disseminated malignant rhabdoid tumor in one twin and a cerebellar tumor mimicking a medulloblastoma in the other. Molecular analysis revealed similar alterations for both tumors: a deletion of exon 7 of the hSNF5/INI1 gene in one allele, and a point mutation in the same exon in the other, suggesting a common genetic pathway. Analysis of constitutional DNA revealed a germline mutation. These findings are in favor of a common etiology for rhabdoid tumor and a subset of brain tumors developing in infancy.

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.