Congenital orbital teratoma: a rare case with intracranial extension.

INTRODUCTION: Teratoma is the most common congenital tumor, but the orbital location is rare. It is composed of tissues from ectoderm, mesoderm, and endoderm. CLINICAL PRESENTATION: Congenital orbital teratoma commonly presents as unilateral proptosis, with rapid growth, leading to exposure keratopathy. DIAGNOSIS: Prenatal ultrasound may detect the orbital mass, computed tomography (CT) scans, and magnetic resonance (MR) imaging are better in demonstrating multilocular cystic and solid mass, without bone erosion. Laboratory tests should include alfa-fetoprotein (AFP) and B-human chorionic gonadotropin (B-HCG), and histopathologically, it contains all three germ cell layers components. The management is surgical removal of the lesion, the mature teratoma has a benign behavior, and the immature has a poor prognostic. We describe a rare case of congenital orbital teratoma with intracranial extension of the lesion, in which was treated with orbital exenteration. After surgery, AFP levels decreased, the middle face displacement has improved and development milestones were appropriate.

Multimodal Management of Congenital Orbital Malignant Rhabdoid Tumor: Review of Literature and Report of a Rare Case.

BACKGROUND: Malignant rhabdoid tumor (MRT) is a rare and aggressive tumor with a dismal prognosis. It commonly arises in the brain (65%), soft tissues (26%), and the kidney (9%). Primary orbital involvement is extremely rare. Although it has been mostly described in children below 2 years old, presentation at birth is sparsely reported. OBSERVATION: We have described a case of congenital orbital MRT, who presented with rapidly progressive right-sided proptosis and was initially treated with subtotal resection and postoperative chemotherapy with ICE (Ifosfamide, Carboplatin, Etoposide) regimen. On local progression the child was treated with palliative radiotherapy (20 Gy) to the right orbit and second-line chemotherapy with VAC (Vincristine, Adriamycin, Cyclophosphamide) regimen. Unfortunately he died due to progressive disease 4 months after the initial diagnosis. CONCLUSIONS: This report highlights the importance of awareness of orbital MRT as a differential diagnosis of rapidly progressing proptosis in the neonatal period. This tumor is often refractory to conventional multimodality treatment and more intensive and innovative treatment approaches are clearly needed in future.

Intraorbital Dermoid Cyst With Zygomaticofrontal Suture Erosion in an Adult.

BACKGROUND: Dermoid cysts are squamous epithelium-lined sacs that result from abnormal migration of ectodermal cells. They are typically superficial and present in children. This study reviews a rare patient with a congenital dermoid cyst occurring as a superolateral intraorbital and extraconal mas. METHOD: Clinical report and review of the literature. RESULTS: A 27-year-old male presented with progressive left hypoglobus, proptosis, and diplopia. On computed tomography, a 2.0 × 2.1 × 1.1 cm well circumscribed mass centered on, and extended into, the frontozygomatic suture with smooth remodeling of the frontal bone. Magnetic resonance imaging showed heterogeneous T1 and T2 hyperintensity with hypointensity on fat suppression. A dermoid cyst originating from the frontozygomatic suture was suspected. Excision was performed through a left orbitocranial approach with a lateral orbitotomy through an upper eyelid crease incision. The mass occurred in the superior-lateral portion of the left orbit and originated from the intraorbital surface of the zygomaticofrontal suture line with significant bony remodeling without osseous transgression. The mass was removed completely including the lateral portion of the zygomaticofrontal suture. Pathologic examination was consistent with a dermoid cyst. Postoperative examination revealed resolution of his presenting headaches and diplopia. CONCLUSION: Congenital dermoid cysts occurring within the craniofacial region occur most commonly in the lateral orbit involving the superficial surface of the frontozygomatic suture. This patient represents the rare occurrence of a dermoid cyst originating from the deep surface of the frontozygomatic suture, resulting in delayed presentation and orbital symptoms of hypoglobus and diplopia. Definitive treatment remains complete surgical excision.

Malignant orbital teratoma in a neonate: A clinicopathological case report.

Teratoma of the orbit is rare; very few cases have been published in literature. A case of orbital teratoma in a neonate is presented where the proptosis was massive enough to obscure the eyeball. Clinically, the diagnosis of teratoma was considered. As there was no possibility of salvaging the eye, exenteration of the orbit was done. Orbital teratomas are generally benign. Histopathological examination revealed the features of malignant teratoma.

Sequence of Surgical Reconstruction in a Child With Cleft Lip and Palate Associated With Congenital Facial Teratomas.

We describe a case of left homolateral complete cleft lip/palate associated with a congenital left maxillary teratoma and left orbital teratoma. The patient required step-by-step reconstruction that first included resection of the 2 teratomas in consideration of cleft lip repair, cleft palate repair, and correction of the left periorbital anomalies, which were performed later. After performing all the necessary procedures, complete resection of the tumors and correction of the anomalies associated with the lip, palate, and left orbit were achieved. The rare occurrence of this type of association and its devastating effect on a patient's growth, aesthetics, and function of craniofacial elements require careful surgical planning to enable restoration of the anatomy and proper functional development. At follow-up, the patient showed significant improvement in the functional and aesthetic aspects.

Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.

Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a high level of penetrance and variable expressivity. The syndrome is characterized by developmental abnormalities or neoplasms and is diagnosed with 2 major criteria, or with 1 major and 2 minor criteria. Here, we report a new clinical manifestation associated with this syndrome in a boy affected by NBCCS who had congenital orbital teratoma at birth. Later, at the age of 15 years, he presented with 4 major and 4 minor criteria of NBCCS, including multiple basal cell carcinoma and 2 odontogenic keratocysts of the jaw, both confirmed by histology, more than 5 palmar pits, calcification of the cerebral falx, extensive meningeal calcifications, macrocephaly, hypertelorism, frontal bosses, and kyphoscoliosis. PTCH1 mutation analysis revealed the heterozygous germline mutation c.290dupA. This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protein with complete loss of function. Identification of this mutation is useful for genetic counseling. Although the clinical symptoms are well-known, our case contributes to the understanding of phenotypic variability in NBCCS, highlighting that PTCH1 mutations cannot be used for predicting disease burden and reinforces the need of a multidisciplinary team in the diagnosis, treatment, and follow-up of NBCCS patients.

Surgical management of immature teratoma involving the oral cavity and orbit in a neonate.

Teratomas are congenital germ cell tumors composed of elements from 1 or more of the embryonic germ layers and contain tissues usually foreign to the anatomic site of origin. In the head and neck region, these lesions are rare, and 90% of head and neck teratomas present during the neonatal and infantile periods. Besides, in neonates, it carries serious risk for respiratory distress as well as feeding problems due to oral cavity and airway obstruction.Here, an unusual case of intraoral teratoma involving the orbit in a newborn who underwent immediate surgical excision successfully is described.

A case of congenital orbital fibroepithelial polyp.

Fibroepithelial polyp (FEP) is a benign tumor of mesodermal origin, composed of varying amounts of stroma covered by epithelium. The skin and the genitourinary tract are the most common sites of FEP. Uncommon locations of FEP include the inferior turbinate of the nasal cavity, bronchi, and the pharynx. To date, there has been no report of orbital FEP. The authors describe a patient with congenital orbital FEP arising from the lateral canthal area. This congenital FEP was completely excised successfully through an anterior orbitotomy without any complications, with no evidence of recurrence after 25 months.

A case of congenital myofibroma of the orbit presenting at birth.

PURPOSE: The purpose of this report is to highlight a rare cause of congenital proptosis. METHODS: This is a case report. RESULTS: We present a case of a baby girl born with a large myofibroma in the right retrobulbar space. This case is unusual because it presented from birth and was in a critical location. A prenatal ultrasound performed two days prior to birth did not reveal this mass to the technician or obstetrician. At birth, the tumor induced severe proptosis, with the eyelids unable to close around the globe. Deterioration of the ocular surface secondary to exposure was evident immediately after birth. One week after birth, the mass was excised by the Oculoplastics service in conjunction with a Neurosurgical team using a transcranial approach. The tumor was diagnosed by histopathology and immunologic staining as a myofibroma, a rare condition. CONCLUSIONS: Orbital myofibroma is a rare cause of congenital proptosis presenting at birth.

[Congenital orbital teratoma].

Congenital orbital teratoma is a rare benign tumor, composed of all three germ cell layers. The Lesion presents clinically as uniLateral proptosis in the newborn. In order to diagnose the tumor correctly a multidisciplinary approach is needed, including ophthalmologists, neurosurgeons, pediatrics, radiologists, and pathologists to eventually diagnose the lesion. Early detection and treatment is needed in order to prevent mechanical destruction of adjacent tissues, and blindness from mechanical pressure on the optic nerve. Surgical excision is the treatment of choice. We present a case report of a newborn, diagnosed with congenital orbital teratoma, and discuss the clinical and histological characteristics of the tumor.

Antenatally diagnosed congenital orbital teratoma in which rupture was associated with intrauterine fetal death.

We report a case of a fetus with a congenital orbital teratoma (COT), in which rupture of the tumor was associated with an intrauterine fetal demise. An ultrasound scan at 27 weeks' revealed a solid and cystic, complex mass in the orbital region with extensive vascularization suggestive of an orbital cystic teratoma. Magnetic resonance imaging (MRI) supported this diagnosis and clarified tumor localization. At 32 weeks', the patient presented with fetal demise and rupture of the mass was noted. Fetal COTs, like sacrococcygeal teratomas, carry the risk of rupture. MRI in utero is useful for evaluating the extent of disease.

[Orbital tumor--hemangiopericytoma--in a neonate]. / Guz oczodolu--haemangiopericytoma--u noworodka.

PURPOSE: To present a case of Haemangiopericytoma (HPC), a rare neopalsm which originates from the vascular pericytes. HPC occurs most commonly in adults. Only 5-10% of cases occur in children. Congenital orbital HPC is generally unknown in the field of ophthalmology. MATERIAL AND METHODS: A case of congenital, large exophthalmus is reported in a 1 day old male neonate. Imaging studies demonstrated a vascular, orbital mass involving skull base and cranial fossa. RESULTS: The diagnosis of HPC was established after histological exmination. Lesion did not qualify to surgical resection. The child was treated with chemotherapy for 10 months and a great regression of tumor was noted. There was no tumor recurrence during 4 years of a follow up. CONCLUSIONS: Chemotherapy may have a significant role in the treatment of infants with nonoperative malignant hemangiopericytoma.

Congenital cranio-orbital myofibroma.

A 1-day-old female newborn presenting with a severe left proptosis was found, on imaging, to have a cranial mass extending in both orbits and ethmoid sinuses. Tumor debulking and biopsy were performed through a lateral orbitotomy. Based on histologic findings, a diagnosis of infantile myofibroma was made. No involvement was found in other areas of the body. The patient died because of respiratory arrest after intracranial surgery that was performed 45 days after the orbital surgery. To the authors' knowledge, only one similar case of cranio-orbital myofibroma has been reported previously. This tumor should be considered in the differential diagnosis of congenital proptosis and cranio-orbital tumor. In such cases, tumor debulking can be performed through orbitotomy.

Proton beam therapy for loco-regional control of a recurrent mixed malignant germ cell tumor of the skull in a 22-month-old girl.

BACKGROUND: Germ cell tumors (GCT) situated in the head and neck region are very rare and occur predominantely in newborns or young infants. Recurrent CTs are often resectable only by mutilating surgery and the need for alternative treatment strategies is obvious. In this situation radiation therapy is the most important treatment option for loco-regional tumor control, but bear in this area the risk of possible impairment of brain function and face deformation as long term effects. CASE REPORT: In a girl with a connatal expansive growing teratoma of the skull the tumor recurred in spite of repeated surgery as mixed malignant GCT at the age of 15 months. Tumor control could not be achieved with chemotherapy and additional surgery seemed not promising. Therefore high dose proton beam therapy (PT) (54 Gy) has been administered to the child at the age of 22 months and led to local tumor control with only mild side effects. CONCLUSION: PT treatment may be an option for specific clinical conditions in germ cell tumors where local tumor control cannot be achieved by chemotherapy and/or surgery and long lasting side effects of conventional radiotherapy due to tumor localization and age have to be considered. However, PT should be implemented in treatment protocols for specific situations to guarantee supervised application, central documentation and follow-up.

Congenital orbital teratoma.

Congenital orbital teratoma though rare is available in this environment. This is a case report of a baby with a protruding orbital mass in the left eye with all classical clinical features of teratoma. Though the histopathological report fell short of confirming the diagnosis the clinical features and outcome of management strongly suggest that the lesion is a teratoma. Multidisciplinary approach to the management not only saved the life of the baby in question but also enhanced the outcome of treatment. Good and compliant follow up for six months was experienced. Cytological test is mandatory for any suspected cases ofteratoma.

A case of congenital orbital malignant rhabdoid tumor: systemic metastasis following exenteration.

A newborn girl presented with massive proptosis of the right eye. Physical and radiologic examination disclosed that the primary orbital mass was confined to the site. A diagnosis of malignant rhabdoid tumor was made by histopathologic examination of an incisional biopsy specimen. Exenteration was performed, and the resection margins were free from tumor cells. However, distant metastasis developed in the liver 1 month after surgery. Despite chemotherapy, the patient died 2 months later due to tumor invasion into the central nervous system, which was confirmed by autopsy. To the best of our knowledge, this is the first case of congenital orbital malignant rhabdoid tumor showing systemic metastasis after exenteration, which suggests the need for aggressive systemic treatment rather than exenteration, even in a case of locally confined tumor.

Eye-conserving treatment in massive congenital orbital teratoma.

An 8-month-old healthy girl presented with a left orbital mass, which orbital magnetic resonance imaging revealed to be a well-circumscribed, mostly cystic lesion. The patient underwent orbitotomy via inferior fornicial conjunctival approach. Tumour shrinkage was accomplished by aspiration of the intralesional fluid, and the remaining debulked mass was removed by total excisional biopsy. Pathological examination revealed a cystic tumour lined mainly with keratinized stratified squamous epithelium, in addition to small foci of mucinous ciliated epithelium resembling respiratory epithelium. Histopathological findings were consistent with the diagnosis of mature orbital teratoma (hair follicles, adipose tissue, mature glial elements, choroid plexus-like papillary organizations and small foci of cartilage in the cyst wall). Derivatives of all three germ lines were present. At 56-month follow up, uncorrected visual acuity in the affected eye was 6/9. This case demonstrates the importance of decompressing the tumour before dissecting it from the periorbital tissues in an eye-conserving approach to orbital teratoma.

Secondary Congenital Glaucoma Associated With Retro-orbital Infantile Hemangioma: A Masquerade Syndrome.

PURPOSE: The main purpose of this study was to describe a unique case of retro-orbital infantile hemangioma (IH) simulating a congenital glaucoma requiring prompt management with systemic propranolol. STUDY DESIGN: This was a case report. RESULTS: A 2-month-old white female was referred to our department of ophthalmology for progressive, unilateral protrusion of the left eye associated with epiphora. Clinical examination was suggestive of congenital glaucoma, as evidenced by high intraocular pressure, optic disc cup, increased corneal diameter, and axial length. The left eye proptosis was measured at 4 mm with the Hertel exophthalmometer. Cycloplegic refraction discloses high degree of astigmatism in the left eye. A cerebral and orbital magnetic resonance imaging revealed an intraconal vascular mass evocative of orbital IH.Oral propranolol was initiated and resulted in a rapid radiologic reduction of the IH. Concomitantly, the notable finding was the reversal of congenital glaucoma parameters without the need of surgery. CONCLUSIONS: To the best of our knowledge, this is the first observation of a secondary congenital glaucoma reversal with oral propranolol used for orbital IH management.