Congenital extraneural hemangioblastoma in a lamb.

A 1-mo-old Ivesi male lamb was presented with 2 large red masses on the skin of the left ear. The tumors were removed using gentle dissection and submitted for histologic evaluation. The tumors consisted of numerous thin-walled capillaries lined by endothelial cells and nests of stromal cells. Immunohistochemically, the endothelial cells were positive for CD45, and the stromal cells were positive for neuron-specific enolase. GFAP-positive cells were occasionally present within the tumor. Endothelial and stromal cells were negative for S100, CD34, CD31, and factor VIII-related antigen. The tumor had strong gross, microscopic, and immunohistochemical similarities with human extraneural hemangioblastoma.

Congenital vascular malformations of the retina and choroid.

PURPOSE: To review recent advances in the diagnosis and treatment of congenital vascular malformations of the retina and choroid. METHODS: Review of the current literature on retinal haemangioblastoma, racemose haemangiomatosis, retinal cavernous haemangioblastoma, circumscribed choroidal haemangioma, and diffuse choroidal haemangioma. CONCLUSION: The management of patients with congenital vascular lesions of the retina and choroid is advancing rapidly through recent developments in genetic testing, ocular imaging, and treatment. Most are associated with systemic disease, which may be life-threatening. New therapeutic methods such as Verteporfin photodynamic therapy and anti-angiogenic therapy have significantly improved the treatment of retinal and choroidal angiomas and vascular malformations. Ophthalmologists have a major role in detecting and diagnosing these tumours and in providing long-term care in collaboration with a specialist in the field.

Congenital supratentorial cystic hemangioblastoma. Case report and review of the literature.

Supratentorial hemangioblastomas are rarely encountered tumors even in the pediatric population; an extensive review of the literature has revealed approximately 118 cases. However, only five of these occurred in infants, and three occurred during the first 2 months of life. A 5-week-old boy presented with emesis, irritability, a bulging anterior fontanelle, and a head circumference that had gradually expanded since birth. His medical and family histories were uninformative in terms of cancer or inherited diseases. Magnetic resonance imaging demonstrated a large loculated cyst with a heterogeneous contrast-enhancing 3-cm nodule, first pushing the left frontal and parietal lobes and then displacing into this region. After being exposed via a left frontoparietal craniotomy, the cyst was evacuated by a soft drain, and then the mass was totally excised. The histopathological diagnosis was a reticular variant of hemangioblastoma. Given that von Hippel-Lindau (VHL) gene mutations may be associated with hemangioblastomas, sequencing analysis of the VHL gene was performed; sequencing of the three exons of the VHL gene showed no exonic mutations. Clinical and neuroimaging follow-up of the patient have revealed an improved health status during the last 23 months. The authors reviewed the literature concerning congenital supratentorial hemangioblastomas, and they discuss the clinical and histopathological characteristics and differential diagnosis associated with such lesions.

Congenital supratentorial hemangioblastoma as an unusual cause of simultaneous supra- and infratentorial intracranial hemorrhage: case report.

Congenital supratentorial hemangioblastomas are extremely rare tumors even in pediatric population. A 57-day-old female neonate presented with a pure motor seizure. On imaging studies, intracranial hemorrhagic lesions containing multiple cystic components in the cerebral and cerebellar areas were revealed, simultaneously. After the emergency surgical evacuation only to a fatal supratentorial lesion, an infratentorial lesion also regressed spontaneously. The authors report a case of full-term neonate presenting with supra- and infratentorial hemorrhagic lesions, which occurred as a result of congenital supratentorial hemangioblastoma bleeding.

Enfermedad de Von Hippel-Lindau y embarazo / Von Hippel-Lindau disease and pregnancy

La Enfermedad de Von Hippel-Lindau es un síndrome hereditario, autosómico dominante asociado a la mutación de un gen supresor tumoral localizado en cromosoma 3p25-26 que tiene riesgo genético esperado de desarrollar hemangioblastoma múltiple en cerebro, médula y retina, feocromocitoma, carcinoma renal de células claras, tumor del saco endolinfático, quistes renales, pancreáticos, hepáticos, de ligamentos anchos y epidídimo. Se presenta un caso clínico con hemangioblastoma de médula espinal cuyo diagnóstico se hizo en el curso de su primer embarazo. Fue operada del tumor después del parto y desarrolló otro embarazo posteriormente. Se discuten aspectos generales del hemangioblastoma del sistema nervioso central y de otras localizaciones y su relación con el embarazo y el parto. Se comunica la nueva clasificación propuesta del síndrome y los principios del manejo actual.

Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene.

A 4-week-old child presented with lethargy, emesis, decreased spontaneous movements, and a bulging fontanelle. Neuroimaging demonstrated a large, hemispheric, multicystic lesion with multiple enhancing nodules, which, on pathological examination, proved to be multiple, distinct hemangioblastomas. Careful molecular analysis failed to reveal alterations of the VHL gene. This represents an uncommon presentation for these tumors and suggests that genes other than VHL may be important in the genesis of these tumors.

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 cystic supratentorial hemangioblastoma. Case report.

The first documented case of congenital supratentorial hemangioblastoma is presented, occurring in a 3-week-old infant. Extensive review of the literature revealed approximately 83 cases of supratentorial hemangioblastoma; however, only one of these occurred in the first year of life, and that case was not presented in detail.

Hypothalamic hamartoma and the Pallister-Hall syndrome.

The Pallister-Hall syndrome (PHS) was initially described as the congenital hypothalamic 'hamartoblastoma' syndrome in 1980. Cardinal manifestations of the syndrome consist of a hypothalamic hamartoma and extracranial abnormalities, initially thought to be fatal in the perinatal period. The original pathologic description of these hypothalamic lesions were from infants who died in the perinatal period and revealed small cells of variable density which resembled primitive undifferentiated germinal cells and appeared to invade the hypothalamic nuclei, suggesting a neoplastic potential. Hypothalamic lesions have now been removed from older infants and children with this syndrome and reveal a more mature histologic appearance typical of a hypothalamic hamartoma. We present 2 new cases of PHS who underwent surgery and demonstrate the maturational nature of the hypothalamic lesion and the phenotypic variability of the syndrome.

Congenital brain tumors.

The most common brain tumor that was present or produced symptoms at birth was teratoma. In this series of congenital tumors, teratomas occurred over 5 times more frequently than the second most common type, astrocytoma. They were often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Incidence between sexes was nearly identical among histologic types that were reported at least 10 times, except for choroid plexus papilloma, which exhibited a male predominance. Four of five meningiomas occurred in males and 4 of 5 sarcomas in females. The predilection of neonatal brain tumors for supratentorial locations was also observed in this series of tumors present at birth. Teratomas occurred above the tentorium almost exclusively and all craniopharyngiomas and 14 of 16 choroid plexus tumors occurred supratentorially. At birth, large head or tense fontanel was a presenting sign in at least 55% of patients. Neurologic symptoms as initial symptoms were comparatively rare. Teratomas and craniopharyngiomas are tumors believed to arise because of developmental defects and these were the tumors that most often occurred with other anomalies. Anomalies were usually located in the head, with cleft lip or palate being most frequent. Prognosis for patients with brain tumors at birth was very poor, usually because of the massive size of the tumor. However, if small and favorably located, tumors were resected successfully. The most favorable outcomes were with choroid plexus tumors where aggressive treatment led to disease-free survival.