[Orbital rhabdomyosarcoma in a 9-month-old baby]. / Rhabdomyosarcome orbitaire chez un nourrisson de 9 mois.

A 9-month-old baby, born within the normal period of gestation and with normal psychomotor development, presented with a rapidly progressive small swelling persisting for several months and evolving towards an inflammatory status. CT scan of the orbit and brain after contrast injection showed right intraorbital tissue mass forcing the eyeball upwards and outwards. The patient underwent surgical biopsy of the lesion. The diagnosis was necrosed sarcomatous tumoral proliferation with undifferentiated cells of small size; immuno-histochemical examination revealed embryonic rhabdomyosarcome. The patient was lost to follow-up for 3 months, then re-consulted. MRI evaluation was requested. This showed a significant increase in tumor volume. Initial chemotherapy was recommended followed by locoregional radiotherapy. The baby died a few months later.

Diagnostic pitfall: primary myoepithelial carcinoma of the lacrimal gland, case report and literature review.

BACKGROUND: In lacrimal gland, lymphomas and inflammatory lesions predominate. Primary epithelial tumours represent less than 30% of lacrimal gland lesions. Myoepithelial carcinoma of lacrimal gland is rare. To the best of our knowledge, only nine cases have been reported in the literature. This lesion presents diagnostic difficulties: non-specific clinical and radiological findings and histological polymorphism. This is well illustrated by the diagnostic pathology errors described in the literature.We report a new case of lacrimal myoepithelial carcinoma with a review of others published cases to try to assess clinico-pathological features and outcome whenever possible of this rare tumour. CASE PRESENTATION: An 80-year-old Arabian female presented with a 2-month history of swelling over the right eyebrow, pain, proptosis of the right eye and diplopia. Computed tomography demonstrated an ill-defined, homogeneous, contrast-enhancing mass attached to the medial rectus. A biopsy was performed. Microscopic examination showed malignant spindle cells tumour, most consistently to sarcoma or sarcomatoid carcinoma. Immunohistochemical study was not possible because neoplastic material has been exhausted. Subsequently, total exenteration of the right orbit was performed. Immunohistochemical study revealed diffuse positive staining for pancytokeratin AE1/AE3, epithelial membrane antigen (EMA) and smooth muscle actin (SMA) and focal positivity for S100 protein. The lesion was immunonegative for desmin, h-cladesmon, CD34, Melan-A and HMB-45. The tumour was extending to the surgical margins. The patient was lost to follow-up until she developed local tumour progression 3 months after removal. The patient was again lost to follow-up and therefore did not receive any other treatment in our hospital. CONCLUSION: We present this rare tumour with an unusual location. The use of a complete immunohistochemical panel with epithelial and myoepithelial markers positivity helped us for classification of this poorly differentiated tumour.

[Usher syndrome: about a case]. / Le syndrome d'Usher: à propos d'une observation.

Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

[A rare case of ocular scarrings in a patient with Vogt-Koyanagi-Harada disease]. / Cas rare de lésions cicatricielles oculaires au cours du Vogt-Koyanagi-Harada.

We here report the case of a 27-year old patient, followed-up in our Department for treatment of chronic Vogt-Koyanagi-Harada disease ( VKH disease). Fundus examination showed depigmentation of the retinal pigment epithelium and of the choroid, appearing as a pseudotumoral peripapillary lesion. Vogt-Koyanagi-Harada disease is a multisystem disorder, characterized by bilateral granulomatous panuveitis with serous exudative multifocal retinal detachment. Pathophysiology of this disease is unknown, but an immunological cellular reaction against melanocytes of the skin, the meninges, the retina, the uvea, the cochlea and the labyrinth is suspected. This disease mainly occurs in young subjects from the Far East as well as in pigmented subjects. Ocular involvement is often associated with neurological (meningeal stiffness, headache, sometimes associated with focal deficit and erebrospinal fluid (CSF) pleocytosis), auditory ( perceptive deafness) and cutaneous (vitiligo, poliosis, alopecia and canities) manifestations. It usually evolves in three phases: a prodromal phase mainly characterized by neurological signs, an acute uveitic phase, a chronic phase of convalescence characterized by choroidal and tegument depigmentation or a phase of recurrence during which subretinal neovessels and subretinal fibrosis may appear. Scarrings manifest during the chronic phase of VKH disease, which is dominated by diffuse depigmentation of the fundus of the eye, scars due to nummular chorioretinal atrophy, wheals due to diffuse depigmentation, macular scar remodeling. Pseudotumoral appearance is rare and atypical during the chronic phase of VKH disease. Treatment is based on intravenous corticosteroids followed by a cycle of oral therapy. Patient should be early treated with massive and prolonged therapy to improve prognosis.

[Role of oral antiviral therapy in the treatment of acute retinal necrosis]. / Intérêt de la thérapie antivirale par voie orale dans le traitement des nécroses rétiniennes aigues.

Acute retinal necrosis syndrome (ARNS) is a rare but devastating uveitic syndrome with devastating visual outcome (visual prognosis ++). It should be diagnosed as early as possible because of its severity and its risk of bilateralization. This is a rare entity caused by the group of herpes viruses. In immunocompromised patients the complications of RNA syndrome often lead to loss of visual acuity. After the discovery of this disease using polymerase chain reaction (PCR) and immune load coefficient (ILC) usually by puncturing the cornea to evacuate the aqueous humour, the confirmation of this diagnosis allows for faster optimization of disease management decreasing the time required to confirm the diagnosis. ARN syndrome is associated with a very poor prognosis. Recent studies have shown that oral antiviral (valaciclovir, famciclovir and valganciclovir) and intravitreal therapies without initial intravenous treatment are an effective treatment for RNA. OBSERVATION: We report the clinical features of a 39-year-old young patient admitted to our emergency department with visual loss. Ophthalmologic examination objectified unilateral acute retinal necrosis. The patient was treated with oral antiviral therapy (valacyclovir) associated with corticosteroids and evolution was very favorable. CONCLUSION: the prognosis of acute retinal necrosis syndrome or RNA is usually severe. The patient should be treated as early as possible in order to limit bilateralization and the occurrence of complications. This study confirms that oral antiviral (valacyclovir, famciclovir and valganciclovir) and intravitreal therapies without initial intravenous treatment are an effective treatment for RNA.

[Conjunctival granuloma following neglected thorn injury: about a case]. / Granulome conjonctival suite à un traumatisme par épine végétale négligé: à propos d'un cas.

It is sometimes difficult to detect a plant intraocular foreign body, mostly in cases where the history of ocular trauma is unclear, or in patients who consult several months after the trauma. We report a rare case of a 7 year old child with self inflicted trauma of the the left eye by a cactus thorn 3 months before admission, which resulted in a temporal conjunctival granuloma with higher inflammatory reaction of the anterior segment. Surgical exploration was performed allowing the extraction of the thorn with total excision of the granuloma. A slight clinical improvement in visual acuity was observed, but the eyeball secondarily atrophied few months after extraction.

[Unusual complication of radiation therapy, corneal perforation: about a case]. / Complication inhabituelle de la radiothérapie: la perforation cornéenne: à propos d'un cas.

Radiation-induced ocular complications are common during radiation therapy for cancers of the head and neck. Some are mild and transient, others can be very serious jeopardizing visual function. This rare and unusual case study aims to highlight the different clinical manifestations and the ocular but especially corneal complications associated with radiation therapy as well as the diagnostic and therapeutic procedures of a corneal perforation which is a serious complication of radiation therapy.

Primary atypical teratoid/rhabdoid tumor of the optic nerve: a rare entity in an exceptional location.

Atypical teratoid/rhabdoid tumors are rare and highly malignant central nervous system tumors. They have no specific radiological features and often present several histological components that make a problem in differential diagnosis with medulloblastoma and primitive neuroectodermal tumors. We present the case of a newborn girl complained of a gradual proptosis of the left eye secondary to an expansive lesional process of the optic nerve. The location at the optic nerve, reported only twice in the literature, and an exclusive rhabdoid appearance on biopsy added additional differential diagnosis problems. The proptosis worsened and the infant died few days after two cycles of chemotherapy. VIRTUAL SLIDES: The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2037718783145212 .