[Neonatal intracerebral bleeding as initial symptom of gliomatosis cerebri WHO III--neurological outcome after partial hemispherectomy]. / Eine neonatale intrazerebrale Blutung als Initialsymptom einer Gliomatosis cerebri WHO III--neurologisches Outcome nach partieller Hemisphärektomie.

INTRODUCTION: Anaplastic astrocytomas presenting as gliomatosis cerebri in neonates are extremely rare. Tumours in newborns are mostly of neuroectodermal origin. CASE REPORT: We report about a female newborn at term [birth weight 3 600 g (P 90), head circumference 35 cm (P 95) APGAR 9/10/10] with an intracerebral partially clotted bleeding in the left parieto-occipital region. The bleeding was expansive leading to axial and lateral cerebral herniation. The intracerebral bleeding in the left occipital region was surgically removed. Macroscopically no solid tumour was seen, but small fragments of an anaplastic astrocytic tumour (WHO grade III) were diagnosed histologically. After surgery, no remaining tumour was visible in the MRI. 6 weeks later, a recurrent tumour (4×4 cm) was found in the area of the initial bleeding. Further treatment was initially refused by the parents. The child was readmitted to our hospital at the age of 11 months in good clinical condition and presented with left-sided hemiparesis, right-sided hemianopsia and intermittent strabismus convergens alternans. Because of the good clinical condition further therapeutic treatment was initiated. Due to the final extension of the tumour into the temporal, parietal and occipital lobes, a gliomatosis cerebri WHO III was diagnosed. An extended partial hemispherectomy was done. After neurosurgery, no further neurological failures occurred. In the follow-up examination, MRI showed no relapse of the tumour. Chemotherapy according to the HIT SKK protocol was initiated. A relapse did not occur over a follow-up of 2 years. CONCLUSION: This is a rare case report of a congenital gliomatosis cerebri WHO grade III, treated with partial hemispherectomy, leading to a good clinical and neurological long-term outcome.

Growth of congenital malignant teratoid medulloepithelioma of the ciliary body: a case study.

The purpose of this study was to describe the growth pattern of congenital malignant teratoid medulloepithelioma of the ciliary body by reporting clinical and imaging findings with pathological correlation. An 11-month-old little girl presented with a whitish-pink iris mass in the right eye resulting from a small ciliary body mass consistent with medulloepithelioma at both clinical and computed tomography (CT) findings. At CT, the lesion showed heterogeneous attenuation, without intraocular calcifications. Eleven months later, clinical and ultrabiomicroscopy showed a clear enlargement of the mass, which invaded the pupil. At magnetic resonance imaging (MRI), the lesion showed T1-weighted hyperintensity and T2-weighted slight hypointensity when compared to the vitreous and a notch in the anterolateral aspect of the ipsilateral lens. After intravenous gadolinium administration, the lesion showed intense homogeneous enhancement, and there was leakage of gadolinium in the anterior chamber, resulting from impairment of blood-aqueous barrier. Biopsy revealed a malignant teratoid medulloepithelioma. The eye was then enucleated, and histology confirmed the diagnosis. Systemic chemotherapy and radiotherapy were not performed, since there was no extraocular extension. The 57-month clinical and MRI follow-up did not show disease relapse. This uncommon case displays the natural history of congenital malignant teratoid medulloepithelioma of the ciliary body. While the tumour might have been successfully treated by local excision at diagnosis, the delay in surgical treatment led to tumour overgrowth with consequent need for enucleation. The most important prognostic feature is extraocular extension, which carries a risk of local recurrence, eventually resulting in intracranial extension and/or lymphatic spread.

[Medulloepithelioma of the ciliary body. A case report]. / Le médullo-épithéliome du corps ciliaire. A propos d'un cas.

Medulloepithelioma of the ciliary body is an uncommon intraocular tumor occurring during the first year of life. Malignant degeneration may occur. We report the case of a 4-year-old child who presented medulloepithelioma of the left eye disclosed by oesotropia at 2 years of age. Clinically, there was oesotropia, positive light perception and cataract with vascular membrane spreading to the nasal side of the irido-corneal angle. CT scan and ultrasound B revealed a ciliary body tumor involving the sclera and orbital fat. After exenteration, the pathology study reported malignant medulloepithelioma of the ciliary body with scleral extension. No local recurrence or metastasis has been observed at 8 months follow-up. We discuss the clinical, radiological and therapeutic features of this uncommon tumor.

Successful therapy in a child with a congenital peripheral medulloepithelioma and disruption of hindquarter development.

PURPOSE: Medulloepithelioma is an embryonal multipotential neuroepithelial tumor with a striking potential for divergent differentiation. It is usually intraocular or intracerebral and associated with a good prognosis only if completely surgically excised. Data regarding therapy in children with incompletely resected tumors are limited. PATIENT AND METHODS: A girl was born with a large, peripheral, congenital medulloepithelioma associated with complete absence of the left hindquarter and anus. Plain film, ultrasonography, and magnetic resonance imaging demonstrated complete absence of the left kidney and hemipelvis. A subtotal resection of the mass and reconstruction of the tumor-related anatomical defects were performed. RESULTS: Pathologic examination showed neuroglia and pseudostratified neuroectoderm diagnostic of medulloepithelioma. She was treated with multiagent chemotherapy including vincristine, cisplatin, cyclophosphamide, carboplatin, and etoposide. She is now 50 months of age and developing normally without recurrent disease. CONCLUSIONS: A child with an incompletely resected congenital peripheral medulloepithelioma who has experienced long-term disease-free survival after treatment with chemotherapy is described. This report supports a role for adjuvant chemotherapy in the treatment of children with peripheral medulloepithelioma.

Immunohistochemistry of medulloepithelioma and neural tube.

Immunohistochemistry profiles of medulloepithelioma (from two 2 1/2-year-old girls who had cerebral medulloepitheliomas and a 35-week postconceptional female infant with congenital posterior fossa tumor) and neural tube are compared. Microscopically, the tumors contained a medulloepitheliomatous component, manifested as tubular epithelial structures lined by pseudostratified columnar epithelium delineated by well-defined basement membranes. In all cases, glial and neuronal differentiation were noted to differing extents. The medulloepitheliomatous components did not exhibit glial fibrillary acidic protein, neuron-specific enolase, or S-100 protein reactivity. Neurofilament, cytokeratin, and epithelial membrane antigen were focally present in one case. Extensive nestin immunopositivity was confined to the basal cell layer of the epithelium, leaving the luminal surface unreactive or slightly reactive. These cells also displayed a reactivity to vimentin and to microtubule-associated protein type 5 similar to that of cells of the primitive neural tube. The similarity between the immunohistochemical profile of medulloepithelioma and that of neural tube epithelium suggests a possible reexpression of that component of the genome responsible for neural tube growth and differentiation in medulloepithelioma.

Glioneuroma asociado a anoftalmía / Glioneuroma associated to anophthalmia

Se presenta un caso de glioneuroma de órbita izquierda asociado a anoftalmía bilateral y quiste meníngeo, en un recién nacido con múltiples anomalías congénitas y con historia familiar de retraso mental y disontogenias. El glioneuroma es una neoplasia benigna constituida por células gliales, neuronas y un neurópilo de fondo. Se demostró el componente astroglial y clasmatodendrítico por medio de técnicas histoinmunoquímicas

Congenital malignant teratoid neoplasm of the eye and orbit: a case report and review of the literature.

BACKGROUND: Medulloepithelioma is a tumor of the primitive medullary epithelium overlying the ciliary body. Most become evident early in life, and they may be malignant, although distant metastases are rare. The purpose of this report is to describe a unique case of congenital malignant teratoid neoplasm of the eye and orbit. METHOD: A patient with a congenital malignant teratoid tumor of the eye and orbit is described, and a detailed histopathologic study of the ocular findings with a review of the literature is presented. RESULTS: Histopathologic study showed that the lesion was a malignant teratoid neoplasm with a large orbital extension. Several intracranial structural abnormalities were identified. CONCLUSION: The tumor described herein must be added to the differential diagnosis of congenital orbital masses. The clinician should be alert to the association of this lesion with complex intracranial abnormalities.

Congenital neoplasms of the nonpigmented ciliary epithelium (medulloepithelioma).

BACKGROUND: Most reports on intraocular medulloepithelioma have been single case descriptions. The authors reviewed ten patients with intraocular medulloepithelioma, discuss some little known clinical features of this entity, and make diagnostic and therapeutic recommendations. PATIENTS AND METHODS: The records of the authors' patients with histopathologically confirmed medulloepithelioma were reviewed, and the clinical features, diagnostic problems, management, histopathology, and prognosis were assessed. RESULTS: Of the ten patients, nine were children, ranging in age from 2 months to 10 years, and one patient was 58 years of age at the time of clinical presentation. In seven patients, there was a delay in diagnosis, ranging from 3 to 28 months, and four patients underwent surgery for cataract, glaucoma, or other secondary conditions while the tumor was unsuspected. All patients had a nonpigmented ciliary body mass and a notched or subluxated lens, and six had neovascular glaucoma and evident cysts in the mass. The authors' initial management was enucleation in four patients and local resection in six. Of the six patients managed by local resection, five eventually required enucleation, four because of local tumor recurrence and one because of ocular inflammation and discomfort. Pathologically, nine tumors were classified as malignant (5 teratoid, 4 nonteratoid) and one as benign. In one patient (the adult), metastasis to the parotid gland developed. CONCLUSION: Intraocular medulloepithelioma generally occurs in the first decade of life as a nonpigmented ciliary body mass. It has a tendency to cause secondary neovascular glaucoma, a characteristic lens notch and subluxation, and a neoplastic cyclitic membrane. Enucleation is the best treatment for advanced cases. For smaller circumscribed lesions, local resection may be attempted, but such treatment is followed frequently by local recurrence. Although most medulloepitheliomas are cytologically malignant, distant metastasis is uncommon.

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.