Leonor Almeida

Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient

A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Significant clinical and perimetric improvements were noted after surgery and the follow-up did not reveal recurrences of the tumour. LDD is an extremely rare differential diagnosis of posterior fossa tumours. LDD and the history of thyroid carcinoma permitted us to diagnose Cowden syndrome (CS). We present a clinical case that supports the possibility of performing a preoperative diagnosis of LDD based on MRI features. We review the diagnosis and management of LDD and CS. This report highlights the importance of excluding CS after LDD diagnosis, of monitoring the optic nerve postoperatively using optical coherence tomography and of prompt treatment that can potentially prevent visual function loss.

Chronic Ocular Graft vs Host Disease as a Serious Complication of Allogeneic Hematopoietic Stem Cell Transplantation: Case Report

Chronic graft-vs-host disease (cGVHD) is a serious systemic immunological complication of allogeneic hematopoietic stem cell transplantation (allo-HSCT). Ocular GVHD (O-GVHD) is frequently associated with cGVHD. Secondary corneal epithelial changes can occur in the setting of advanced chronic O-GVHD-associated keratoconjunctivitis sicca (KCS), which generally has a stable course with conventional medical treatment. Bilateral corneal ulcers and ocular perforation, although not frequent, can occur in most extreme cases. The authors describe 2 clinical cases of ocular perforation (Clinical case 1) and bilateral simultaneous corneal ulcers (Clinical case 2) due to advanced chronic O-GVHD, which can rarely occur despite treatment. A close ophthalmological follow-up and good dialogue with the multidisciplinary transplantation team are essential after allo-HSCT.

Mucoepidermoid carcinoma of the bulbar conjunctiva – an interventional case report

Purpose: Mucoepidermoid carcinoma is a rare variant of squamous cell carcinoma of the conjunctiva. It appears more frequently in the elderly, it is more aggressive than squamous cell carcinoma, and it has a higher recurrence rate and higher incidence of intraocular and orbital invasion. Methods: We report a case of a 74-year-old man who presented to the Emergency Department with a one month history of painful red left eye. Results: The patient presented with visual acuity was 10/10 in both eyes and a conjunctiva tumor on the bulbar conjunctiva of left eye. The UBM revealed a thickening of the conjunctiva-sclera complex with no signs of intraocular invasion. A biopsy was performed and the diagnosis was of mucoepidermoid carcinoma. Two local excisions with adjuvant cryotherapy and mitomycin C aplication were carried out in a period of 6 months. After 9 months of follow-up there has not been any sign of recurrence. Conclusions: The early diagnosis and treatment of carcinoma is essential not only to prevent the intraocular spread and preserve visual function but also to prevent local or systemic recurrence and dissemination.

De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneuropathy

The familiar amyloid polyneuropathy (FAP) is a rare autosomal-dominant systemic amyloidosis. Amyloid deposition occurs more frequently and extensively in the vitq. The increase in intraocular pressure (IOP) is a result of deposition of transthyretin (TTR) in trabecular meshwork. Rarely, the amyloid deposition in anterior segment can be more exuberant than in posterior segment. A 42 years old man, with FAP (Val30Met mutation), liver transplantation in 1997. He was asymptomatic, without any significant ocular abnormality until 2011. In 2011 he had an episode of pain in right eye (RE). Scalloped pupils, pupillary amyloid deposits and subtle vitreous opacities were detected. The IOP was 40 mmHg in RE and 28 mmHg in left eye (LE) with open angle. Optical coherence tomography detected a temporal superior retinal nerve fiber layer defect in LE and perimetry was normal. Topical timolol was initiated, and brimonidine was subsequently added to improve IOP control, which was achieved with topical medication until last evaluation. No progression occurred since 2011. Actually, with longer life expectancies, there is an increased risk of ocular involvement in FAP, even after liver transplantation. Although rare, a more exuberant amyloid deposition in anterior segment vs posterior segment can occur, and supports an important role of amyloid production in ciliary pigment epithelium in these patients. Medical control of IOP and a stable course are unusual in this secondary glaucoma. Ophthalmologists have an important task in the follow-up of patients and early diagnosis of risk factors for secondary glaucoma, such as scalloped pupils with amyloid deposits.

Lattice-like paraproteinemic keratopathy (PPK) of monoclonal gammopathy of undetermined significance (MGUS)

A male patient aged 71 years presented with a history of progressive visual loss in the past 3 years. Ophthalmological evaluation showed a best-corrected visual acuity of 20/200 bilaterally and the presence of bilateral linear lattice-like corneal opacities similar to lattice dystrophy (LD) and dense nuclear cataracts at slit lamp examination (figure 1). There was no family history of ocular diseases. Serum protein electrophoresis included in the systemic investigation showed a band in the γ-globulin fraction (figure 2). Nephelometry detected an increased level of κ light chains—75.6 mg/dL (normal: 3.3–19.4 mg/dL) and a normal level of λ light chains—14.4 mg/dL (normal: 5.7–26.3 mg/dL) and an increased κ/λ ratio of 5.25 (normal: …

Two extremes of the clinical spectrum of conjunctival squamous cell carcinoma presenting in the same patient

A black man aged 61 years with AIDS presented in our institution in 2013 with extensive left-sided orbital soft tissue necrosis and exposure of deep orbital structures, with left eye (LE) destruction caused by squamous cell carcinoma (SCC) (figure 1A). He had a history of biopsy-proven conjunctival SCC in LE, diagnosed in 2010. T2-weighted MRI demonstrated total left orbital invasion (figure 1B), with extension to paranasal sinuses, extensive bone destruction and extension to cavernous sinus. Oncologists decided to treat with palliative radiotherapy (RT, 20 Gy in 5 fractions) followed by orbital exenteration. Ophthalmological evaluation showed suspicious conjunctival lesions with corneal invasion and a gelatinous appearance in the right eye (RE), highly atypical for pterygium (figure …