Massive Proptosis Research Articles

Type II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report

BackgroundPfieffer syndrome is among the syndromes seen in the recognized variant of the FGFR2 gene. There are several conditions related to this variant and a very closely related condition is Crouzon syndrome. This case is important to report because the neonate was a delayed referral from another region, without clear counseling and information on the gravity of situation. We describe additional features , not previously described in Pfieffer or Crouzon syndrome, supernumerary teeth and localized symmetrical gigantism of thumbs and great toes on both sides. That a genetic testing is essential to further manage and counsel to avoid lost opportunities for future births. Several cases are seen in this unit annually, and there is need for a more consolidated and comprehensive counseling and genetic testing. Once early diagnosis is done and the case is recognized to be untreatable, it was avert the need to refer.Case presentationA 2-week-old male African neonate referred from outside the region, presented with massive proptosis soon after delivery, with signs of pan-ophthalmitis and neonatal sepsis. The infant had additional multiple malformations and features initially diagnosed as Crouzon syndrome , but later confirmed after genetic testing to be Type II Pfieffer syndrome. A through clinical evaluation and genetic testing would prevent undue referral to a tertiary center, or if needed, the baby should have been referred much earlier. The uniqueness of this case is the presence of supernumerary teeth.ConclusionA complicated, difficult to remedy case, referred to tertiary center, investigated, and sent back home with no significant intervention. Genetic test confirmed the typical findings of Pfieffer Type II. Presented for describing additional unique features of supernumerary teeth and localized gigantism and ethical challenges in management.

Congenital Orbital Glial Heterotopia Associated with Clinicopathological Anophthalmia: A Case Report.

Glial heterotopia (GH) is the presence of glial tissue outside the cranial cavity, without communication with the brain. The orbital location usually presents as eyelid swelling, strabismus, and proptosis. This is considered a congenital location that usually presents at birth. Its association with anophthalmia is uncommon. We report the case of a 2-day-old male neonate with left congenital intraorbital lesion presenting with massive proptosis. No eyeball could be seen. Preoperative magnetic resonance imaging disclosed a large and predominantly cystic mass occupying and protruding from the left orbit without intracranial extension. In the operating theatre, a large amount of fluid was aspirated prior to total resection of the mass. Chemical analysis of the fluid was compatible with cerebrospinal fluid. Histologically, the tumor was composed of mature neuroglial tissue and ependymal cells. Despite multiple sections, no choroid plexus or intraocular content was found. The diagnosis of GH with anophthalmia was made.

Congenital orbital teratoma: A case report

Background: Teratoma originates from all three germinal layers and commonly found at the sacrococcygeal region. The orbit is an unusual site of occurrence, but they grow rapidly and cause massive proptosis. Case Presentation: A 9-day-old female neonate presented with marked unilateral proptosis of the right eye. Imaging workup gave a suspicion of a complex mass with internal hemorrhage or a teratoma. Modified exenteration was performed. Histopathological examination revealed mature cystic teratoma. Conclusion: Orbital teratoma presents with marked disfiguring proptosis in neonatal life. Prompt complete surgical excision is curative in the case of mature lesions.

Proptosis in orbital myeloid sarcoma: A precursor to acute leukaemia

Myeloid sarcoma is a rare, aggressive presentation of acute myeloid leukemia which tends to affect bones and soft tissue. It is usually seen in children, and has a poor prognosis. We report a case of orbital myeloid sarcoma presenting with unilateral proptosis in a young adult who subsequently developed acute myeloid leukaemia. An 18-year-old male presented with sudden, progressively increasing right eye swelling over two weeks. Examination revealed right eye proptosis, with a positive relative afferent papillary defect and a right eye visual acuity of 6/60, pinhole 6/18. The right fundus showed optic disc hyperemia, tortuous veins and choroidal folds. The left eye was normal. On initial examination, computed tomography (CT) of the brain and orbit showed an enhancing mass at the lateral aspect of the right orbit measuring 3.8 × 2.1 cm, with optic nerve displacement. Right lateral orbitotomy and excisional biopsy yielded a tissue diagnosis of myeloid sarcoma. The peripheral blood smear was normal at this time. The patient defaulted treatment but presented again three months later with right eye massive proptosis and loss of vision. A repeated CT scan showed a large lobulated mass measuring 104.5mm × 87.21mmm × 77.25mm occupying the right orbit, with destruction of the bony orbital walls and intracranial extension. A repeat full blood picture and bone marrow aspiration showed 30% blast cells, consistent with the diagnosis of acute myeloid leukemia. Patient was started on chemotherapy and radiotherapy. The tumour reduced in size after five cycles, but unfortunately, patient passed away due to brain metastases.

Orbital myeloid sarcoma presenting as massive proptosis

A 10-year-old boy presented with right proptosis for 8 months. The eyeball was grossly pushed down, with diffuse corneal haze and non-reactive pupil. Systemic examination was normal. Previous investigations in another centre included a computerized tomography scan, which showed a well-defined enhancing retro-bulbar mass, a non-contributory fine needle aspiration cytology and a biopsy showing fibrocollagenous tissue with moderate lympho-monocytic infiltrate suggestive of non-specific inflammation. PET-CT scan revealed the presence of enlarged fluoro-deoxyglucose-avid cervical and mesenteric lymph nodes. Biopsy of the retro-bulbar mass was repeated in our centre. It showed fibrocollagenous and skeletal muscle tissue infiltrated by lymphoid follicles, dispersely lying lymphocytes and plasma cells, and admixed large atypical cells with vesicular nuclei, prominent nucleoli and scanty cytoplasm, strongly positive for myeloperoxidase, CD43 and CD99 immunohistochemistry. Hemogram was normal. Bone marrow aspiration/biopsy and CSF showed no evidence of acute myeloid leukemia. The child received chemotherapy in another centre and is in complete remission 6 months after completion.

Misleading presentation of an orbital lymphangioma

We describe a 2-year-old patient with an orbital lymphangioma who presented with massive proptosis. We highlight the importance of magnetic resonance imaging in evaluating such patients, because physical examination can be misleading. We also demonstrate the difficulties of managing recurrent hemorrhages when only subtotal excision is possible, as is frequently the case.

Intralesional injection of OK-432 for vision-threatening orbital lymphangioma

Surgical excision of orbital lymphangiomas is difficult, and almost always incomplete due to the diffusely infiltrative pattern of these tumors. The present report describes the successful use of intralesional OK-432 administration to treat two patients with intractable hemorrhagic proptosis due to orbital lymphangiomas. A 3-year-old girl (case 1) presented with aggressive proptosis and ptosis, and a 1-year-old boy (case 2) presented with massive proptosis and exposure keratopathy, associated with recurrent intracystic bleeding of an orbital lymphangioma. In case 1, 0.02 mg OK-432 was intracystically injected in a volume of 2 ml of physiologic saline. Due to a lack of therapeutic response, a second injection of 0.05 mg OK-432 in 1 ml was administered. In case 2, a single dose of 0.05 mg OK-432 in 1 ml was administered. In both cases, intracystic administration of 0.05 mg of OK-432 in a 1-ml volume resulted in a successful outcome. The adverse effects were minor (mild transient fever and lid swelling), and rebleeding and intraocular pressure elevation did not occur. Proptosis and eyelid swelling gradually improved over 1 month, and completely resolved within 3 months of treatment. Intralesional administration of 0.05 mg/ml OK-432 (delivered in 1 ml) resulted in the successful treatment of two cases of orbital lymphangioma. Although this drug concentration is higher than in previous reports, there were no major adverse effects.

Polycystic Echinococcosis of the Orbit

To report a case of polycystic echinococcosis of the orbit caused by Echinococcus oligarthrus. Interventional case report. A 14-year-old girl presented with a massive proptosis of the right eye of 9 years duration and loss of vision. The eye was phthisic, and a cystic mass was palpable. Computed tomography scan showed closely packed multiple orbital cysts with destruction of the medial orbital wall. Surgical exploration was performed. The phthisic eye was enucleated. Dissection of the outer fibrous capsule yielded approximately 30 intact translucent white cysts of various sizes that were suggestive of polycystic echinococcosis. The diagnosis of echinococcosis was confirmed on histopathologic evaluation. The specific diagnosis of E oligarthrus was made on the basis of the presence of straight-backed hooks and central guards. Polycystic echinococcosis of the orbit caused by E oligarthrus is rare. It may be an entirely new entity or hitherto unrecognized form of orbital echinococcosis.

Haemangiopericytoma of the eyelid and orbit: report of 2 cases

Haemangiopericytoma is a rare tumour of the pericytes. This is a report of two adult Nigerians presenting with large orbital masses confirmed at histology to be haemangiopericytoma of the eyelid and orbit respectively. Massive proptosis in both patients produced a clinical diagnostic dilemma, which was only resolved by histopathological studies. Key Words: Haemangiopericytoma, eyelid, orbit, tumour Nigerian Journal of Surgical Research Vol.5(1&2) 2003: 166-170

Massive proptosis of the globe

A 54-year-old woman was referred to the oral and maxillofacial surgery department in July 1996 with a complaint of swelling of the left cheek and paranasal region. The patient initially came to the ophthalmology department several months earlier because of protrusion of her left eye and blurred vision, which she stated had become progressively worse over the past 2 years. The patient also stated that she had been experiencing nasal congestion and fullness of her sinuses for the past 6 to 8 years, for which she had not sought treatment previously.

The "triple technique" for treating stable Graves' ophthalmopathy.

Graves' ophthalmopathy may range from mild eyelid retraction to a devastating process that involves the entire orbit and culminates in gross ocular congestion, massive proptosis, and even blindness. Whether the ophthalmopathy is mild or severe, patients are managed on an individual basis according to the predominant clinical findings, which may include congestion, myopathy, lid retraction, proptosis, and optic neuropathy. The process usually becomes quiescent after 6 months to 3 years; however, the changes caused by fibrosis (lid retraction and ocular muscle enlargement) are permanent. The cornerstone of surgical treatment for severe cases is bony orbital decompression; however, in our experience, mild to moderate Graves' ophthalmopathy is better treated by combining eyelid surgery and orbital lipectomy. Our approach consists of a conservative orbital lipectomy, the lengthening of the levator-Müller complex by means of marginal myotomies, and a limited lateral tarsal apposition. These three different surgical steps, which have been described previously as isolated procedures, are undertaken on both eyes at the same time and modulated according to the deformity of the patient. The operation can be performed under local anesthesia with sedation, thus allowing intraoperative monitoring of the correction; the patient can be discharged after a few hours. The results in 32 operated eyes of 16 patients have been a marked aesthetic and functional improvement, with no complications after 6 to 18 months of follow-up. The relative simplicity and very low morbidity of this procedure, as well as its reliability, make it ideal in patients with mild to moderate aesthetic and functional impairment who are looking for a substantial improvement but are unwilling to undergo a relatively major procedure such as a transosseous decompression, which, in our opinion, is the operation of choice only when the patient presents with optic neuropathy or major proptosis.

LID MOBILIZATION AND TARSORRHAPHY FOR MASSIVE PROPTOSIS

THERE ARE several types of massive proptosis which constitute a dangerous threat to the eye. In such cases the cornea is exposed because the lids cannot close over it. This is followed by exposure keratitis, which may terminate in serious loss of vision, or even in loss of the eye. For a mild degree of corneal exposure there are a number of well-known techniques available, such as production of marginal lid adhesions and the Fuchs, Wheeler, and Kuhnt-Szymanowsky tarsorrhaphies. However, in the massive proptosis which may be encountered with some cases of thyrotropic exophthalmos, especially with orbital tumors, these measures may not be sufficient to protect the globe. Even when they are attempted in such cases, the lid sutures give way under the pressure and the cornea is again exposed. The procedure to be described has the great advantage that it produces a firm tarsorrhaphy and secures protection for the