Teratoma orbitario maduro congénito: reporte de un caso / Congenital mature orbital teratoma: A case report

Los teratomas son neoplasias gonadales o extragonadales, derivadas de los tres tejidos embrionarios, compuesto de células germinales del neuroectodermo, del mesodermo y del ectodermo. El teratoma orbitario congénito (TOC) afecta comúnmente a la órbita izquierda, predominando en mujeres sobre hombres a razón 2:1. Se presenta el caso de un paciente femenino de 9días de vida extrauterina con un teratoma orbitario congénito maduro izquierdo, intervenida por el servicio de órbita y oculoplástica, realizando una exenteración orbitaria y resección total de la masa tumoral (AU)

Teratomas are gonadal or extragonadal neoplasms, derived from the three embryonic tissues, composed of germ cells of the neuroectoderm, mesoderm and ectoderm. Congenital orbital teratoma (OCT) commonly affects the left orbit, primarily affecting women over men at a ratio of 2:1. We present the case of a female patient of 9days of extrauterine life with a left mature congenital orbital teratoma. The orbit and oculoplastic service performed an orbital exenteration and total resection of the tumor mass (AU)

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.

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.

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.

Orbital Teratoma: A rare congenital tumour.

BACKGROUND: Orbital teratomas are congenital, unilateral germ cell tumors, which are present at birth with moderate to massive proptosis. The rare tumour has to be managed individually and is at times difficult. CASE: A female child in her 2nd day of life was brought to our department with complains of forward bulging of the left eye which was noticed since the time of her birth. OBSERVATION: Examination and investigations revealed a mass with scattered foci of calcification. The mass was causing expansion of left orbit with thinning and scalloping of bony boundaries of left orbit with no intracranial component. The scan suggests the diagnosis of orbital teratoma which was further confirmed by histopathological examination. CONCLUSION: The rare tumour presents a challenge in management. The aim of management depends upon the extent of tumour, preservation of vision whenever possible, promotion of normal orbital growth and cosmesis.

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.

[Orbital dermoid cysts: Clinical spectrum and outcome]. / Les kystes dermoïdes orbitopalpébraux : étude clinique et résultats thérapeutiques.

INTRODUCTION: Dermoid cysts are benign congenital orbital tumors, they are classified as choristomas. Clinical manifestations vary according to location and size. MATERIALS AND METHODS: We retrospectively analyzed 43 cases of dermoid cysts surgically treated between July 1998 and March 2009. RESULTS: Mean patient age was 18.64 years. Among patients, 48.83% were male. Preseptal location was most common (41 cases). One of the two cases of intraorbital location required orbitotomy. We observed no complications or recurrence. DISCUSSION: Dermoid cysts are most often seen in young patients. The mean age of our patients was relatively high. The majority of dermoid cysts are periorbital in location. Superficial orbital dermoid cysts are more frequent, present earlier in life and are more easily identified than deep dermoid cysts. Imaging plays a major role in the management of deep orbital tumors. Complete surgical excision has remained the mainstay of treatment. CONCLUSION: Dermoid cysts are benign orbital tumors. Superficial dermoid cysts are the most common type. Deeper cysts require a more challenging diagnostic and therapeutic approach.

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.

Synchronous congenital malignant rhabdoid tumor of the orbit and atypical teratoid/rhabdoid tumor--feasibility and efficacy of multimodal therapy in a long-term survivor.

Among infant malignancies, congenital tumors, especially those of the central nervous system (CNS), constitute a rather unique subgroup. Poor survival rates (28% in CNS tumors) may be attributed to the aggressive biology as well as specific therapeutic limitations innate to the young age of affected patients. Our patient developed synchronous congenital tumors: an atypical teratoid/rhabdoid tumor (AT/RT) localized in the right lateral ventricle of the brain and a malignant rhabdoid tumor (MRT) in the soft tissue of the right orbit. A de novo germline chromosomal deletion in 22q encompassing the SMARCB1 gene was detected, prompting the diagnosis of a de novo rhabdoid tumor predisposition syndrome 1 (RTPS1). The patient was reported to the European Rhabdoid Registry (EU-RHAB) and treated according to the Rhabdoid 2007 recommendation. Despite the very young age of the patient, the initially desperate situation of RTPS1, and the synchronous localization of congenital rhabdoid tumors, intensive chemotherapy was well tolerated; the child is still in complete remission 5 years following diagnosis. In conclusion, RTPS1 with congenital synchronous MRTs is not necessarily associated with a detrimental outcome. Intensive multidrug chemotherapy, including high dose chemotherapy, may be feasible and justified.

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.

[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.

Congenital orbital teratoma.

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

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.

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.