[Incontinentia pigmenti: a case study]. / Incontinentia pigmenti: à propos d'un cas.

Incontinentia pigmenti is a rare hereditary, dominant, X-linked disorder. It involves the skin, the teeth, the eyes and the central nervous system. The case we report is an infant girl aged 2 months. She had typical skin lesions associated with severe impairment of her left eye. We comment on the clinical, histological, genetic, and therapeutic characteristics of this rare disease. Ophthalmologic examination should be made early in order to diagnose ocular involvement at an early stage of the disease to provide for greater treatment possibilities.

[Bilateral primary pseudotumoral palpebral amyloidosis. A case report]. / Amylose palpébrale bilatérale primitive pseudotumorale. A propos d'un cas.

Ocular amyloidosis is infrequent, and the palpebral location is uncommon. It usually has a primary localized form, but can occur in systemic or familial amyloidosis. The diagnosis is mainly made by histopathology. Its treatment is surgical and the prognosis depends on clinical presentation and recurrences. We report the case of a 54-year-old woman with no medical history of the disease, who had bilateral isolated palpebral amyloidosis presenting as bilateral upper lid swelling with ptosis and corneal dystrophy. Diagnosis was confirmed by palpebral biopsy and the patient underwent excision of the involved lid tissue with reconstruction of the affected lid with cartilage autograft. Clinical progression showed improvement of the ptosis and the patient's comfort. Although rare, palpebral amyloidosis poses management problems, particularly in advanced cases, because of corneal complications and recurrence.

[Bilateral posterior microphthalmos associated with papillomacular fold and severe hyperopia]. / Microphtalmie postérieure bilatérale associée à un pli papillo-maculaire et une forte hypermétropie.

Posterior microphthalmos with papillomacular fold is a rare disorder that involves both eyes without other ocular or systemic abnormalities. It is characterized by a short posterior segment with a normal anterior segment. We report the case of a 3.5-year-old boy with high hyperopia. The fundus examination showed bilateral papillomacular fold and ultrasonography confirmed the posterior microphthalmos. We comment on clinical characteristics, pathogenicity, and inheritance modes of this rare congenital disorder.

[Rat bite: an unusual cause of orbital cellulitis]. / Morsure par un rat: une cause inhabituelle de cellulite orbitaire.

Rat bite is rarely reported in the literature. We report the case of a 33-year-old woman who was bitten by a rat on her upper eyelid. The clinical examination showed a large palpebral edema extending to the side of the face, associated with local signs of inflammation. Visual acuity was preserved and tomodensitometry showed a small exophthalmia that did not extend to the sinuses. This lesion led to a diagnosis of orbital cellulitis. Progression was favorable with antibiotics: amoxicillin, clavulanic acid, gentamicin, and metronidazole. The authors discuss the compromised prognosis of this disease and the necessity of rapid diagnosis and prompt therapeutic management.

[Intraorbital wood foreign body: a case study]. / Corps étranger intra-orbitaire végétal: à propos d'un cas.

A 12-year-old child had left orbital trauma by wood. He consulted 4 months after for orbital cellulitis with cutaneous fistula. The CT scan showed the presence of a left orbital wood foreign body extended to the homolateral cavernous sinus and intracranial. Extraction of the wood fragment associated with an adapted antibiotic treatment led to clinical improvement without visual recovery. A situation of orbital trauma and secondary orbital inflammatory syndrome must raise the suspicion of a foreign body of the orbit and motivate emergency imaging for optimal management of the disorder.

[Bilateral optic neuropathy from methanol intoxication. A case report]. / Neuropathie optique bilatérale par intoxication au méthanol. A propos de deux cas.

Methanol poisoning generally occurs after voluntary or accidental ingestion and can be responsible for blindness by optic neuropathy. We describe two cases of methanol poisoning who developed bilateral optic atrophy despite a treatment combining corticosteroids and vitamin B. Through these observations we recall the physiopathology as well as the clinical and therapeutic aspects of this type of intoxication.

[Neuroretinitis, Parry-Romberg syndrome, and scleroderma]. / Neurorétinite, hémiatrophie faciale progressive de Parry-Romberg et sclérodermie localisée. A propos d'un cas et revue de la littérature.

INTRODUCTION: Progressive hemifacial atrophy (Parry-Romberg syndrome) is a rare entity characterized by severe hemifacial atrophy affecting subcutaneous tissue. Its clinical manifestations are mainly neurological and ocular. The most common ocular finding is enophthalmos with eyelid modifications (ptosis, retraction, atrophy). Neuroretinitis remains a rare symptom in this affection. We report here a new case. CASE REPORT: A 22-year-old woman with progressive hemifacial atrophy (Romberg syndrome) is reported. The atrophy had begun 10 years before. At time of presentation, she was suffering from blurred vision in her left eye. She presented with mild enophthalmos associated with eyelid atrophy and loss of cilia. Biomicroscopic examination showed bilateral vitreitis and a typical spectrum of neuroretinitis in her left eye. There was no heterochromia. General examination revealed atrophy of the right part of her body. Etiological investigations showed the presence of antinuclear antibodies and a positive Rose-Waaler latex test without an inflammatory syndrome. Corticotherapy was proposed (1 mg/kg/day) with good progression. DISCUSSION: The authors report a new case of progressive hemifacial atrophy (Parry-Romberg syndrome). They emphasize the rarity of this disease, its etiology, which remains controversial, the diversity of its ophthalmologic manifestations, and its relations with scleroderma and autonomic nervous system disorders are discussed. Acute neuroretinitis remains rare and its pathogeny is unknown.

[Revealing dacryoadenitis inflammation as Wegener's granulomatosis]. / Dacryoadénite inflammatoire révélatrice d'une granulomatose de Wegener.

INTRODUCTION: Wegener's granulomatosis is a necrotizing granulomatous vasculitis characterized by the involvement of the upper airways, lungs and kidneys. CASE REPORT: A 39-year-old man presented with a 8-month history of proptosis of left eye. He had a history of recuring sinusitis and dyspnea. The diagnosis of Wegener's granulomotosis was confirmed by the nasal biopsy. A complete remission was achieved after treatment with corticosteroids, cyclophosphamide and trimethoprine sulfamethoxazole. COMMENTS AND CONCLUSION: Wegener's granulomatosis is a multisystemic inflammatory disease of unknown origin. The classic diagnostic triad of this disease is necrotizing granuloma of the upper or lower respiratory tract, vasculitis and nephritis. The disease is usually fatal if untreated. However, early diagnosis and immunosuppressives such as cyclophosphamide can induce long term remission.

[Bilateral uveitis in relapsing polychondritis. A case report]. / Uvéite bilatérale au cours d'une polychondrite atrophiante. A propos d'une observation.

We report a rare ocular manifestation of relapsing polychondritis. A 28-year-old woman presented with a 5-year history of relapsing polychondritis with chondritis of the nose, ears and tracheobronchial system. The ocular symptoms were bilateral uveitis with macular involvement and papillaedema. Ocular manifestations of relapsing polychondritis occur in 60% of patients. Uveitis is a rare symptom, sometimes severe, which can lead to blindness. This case report with a literature review sheds light on the features of this disease.

[T-cell acute lymphoblastic leukemia /orbital lymphoblastic lymphoma in children]. / Leucémie aiguë lymphoblastique T/Lymphome lymphoblastique orbitaire chez l'enfant.

CASE: The authors report a case of an 6-year-old pediatric patient with a history of acute onset of proptosis of his right eye. He was admitted at hospital 6 months ago for proptosis concomitant with orbital trauma. Computed tomography scan demonstrated a mass involving the right orbit, right maxillary sinus, and zygoma with endocranial extension. RESULTS: Incisional biopsy of the mass revealed after of histopathologic and immuno-histochemical evaluation a T-cell lymphoblastic lymphoma. Systemic examination and bone marrow aspirate show a acute lymphoblastic leukemia. The patient was treated with LMT96 Protocol. A complete Remission was observed after 13 months of follow up. CONCLUSION: Primary T-cell lymphoblastic lymphoma of the orbit is a rare entity in any age group, but it is very rare in children. When tumors occurs in the orbit, it presents a challenging diagnosis problem, especially in pediatric patients.

[Orbital primitive neuroectodermal tumor with intracranial extension. A case report]. / Tumeur neuro-ectodermique primitive orbitaire avec extension endocrânienne. A propos d'un cas.

Primitive neuroectodermal tumor (PNET) of the orbit is rare. We present a case of a young patient with orbital PNET extending to the endo-crane and sinuses, which had been treated 10 years before with the diagnosis of rhabdomyosarcoma. The diagnosis was corrected with immunohistochemistry. Through this observation, we discuss the clinical aspects, the diagnosis difficulties, and the therapeutic options of this rare affection.

[Eales disease and tuberculous allergy]. / Maladie de Eales et allergie tuberculinique.

The authors report the case of a 25-year-old woman who presented unilateral Eales disease associated with biologically confirmed pulmonary tuberculosis. The patient, from a family with a history of tuberculosis, showed a painless and abrupt decrease in visual acuity of the right eye with venous and arterial vasculitis. Fluorescein angiography confirmed the existence of peripheral ischemia and vascular abnormalities. The biological exam showed a positive PPD and the BK was isolated. Antibiotic and corticosteroid drugs were used in the treatment. The clinical, immunopathological and therapeutic aspects of this disease are discussed.

Behçet's disease in Moroccan children: a report of 12 cases.

We report 12 cases of Behçet's disease (BD) in children. The mean age of symptom onset was 12.4 years. Four patients (33.3%) had a past familial history of BD. Clinical manifestations were: oral aphtosis (n = 12), genital aphtosis (n = 9), ocular involvement (n = 9), neuro-Behçet (n = 6), venous thrombosis (n = 4), articular involvement (n = 3), and entero-Behçet (n = 1). All patients but one were initially treated with steroids; three cases with ocular involvement were treated with chlorambucil; and three other cases of neuro-Behçet were treated with cyclophosphamide. After a mean follow-up of 4 years, four patients with neurological involvement developed steroid-dependence with recurrence of symptoms. Four patients had optic atrophy with blindness.

[Orbital meningoencephalocele: two case studies]. / La méningo-encéphalocèle orbitaire. A propos de 2 cas.

Primitive orbital meningocele is a rare congenital malformation. It is defined as a herniation of meninges into the orbit through a congenital defect in the orbital bones. In meningoencephalocele, there is atrophic brain tissue in the herniated meningeal sac. We report the cases of two babies who presented with a medial orbital tumoral syndrome. Computed tomography showed a cystic tumor close to a bony defect in the anterior frontoethmoidal junction. A transcranial approach confirmed the diagnosis of meningoencephalocele; it was resected and the bony and dural defects were closed. The outcome was uneventful. Orbital meningoencephalocele is probably linked to an abnormal closure of the rostral neuropore. It generally presents in the first months of life with very suggestive radiological and clinical features. Surgical treatment using a transcranial approach is indicated in all cases and provides definitive recovery.

[Cutis laxa syndrome. Case report]. / Le syndrome de cutis laxa. A propos d'un cas.

INTRODUCTION: Cutis laxa is a heterogeneous group of connective tissue disorders,characterized by loose skin and variable systemic involvement. The characteristic symptomatological pattern is resulting from paucity of elastic fibers. CASE REPORT: A 4 year-old boy with a congenital cutis laxa was sent by his pediatrician for ophthalmic examination. His examination revealed an ectropion of the right lower lid and an entropion of the left lower lid. His general physical examination showed multiple visceral involvement, with inguino-scrotal hernia, multiple dental caries and severe pulmonary emphysema responsible for death two weeks after. DISCUSSION: Cutis laxa is an extremely rare group of disorders. Congenital and acquired varieties have been described. The association of ocular anomalies has been described in the autosomal recessive form. Through this case report we shall discuss the ophthalmological signs of this disease as well as its clinical and genetic manifestation and its physiopathology.

[Association of choroidal coloboma, congenital hypertrophy of retinal pigmented epithelium and familial adenomatous polyposis: case report]. / Association colobome choroïdien, hypertrophie congénitale de l'épithélium pigmentaire rétinien et polypose adénomateuse familiale: a propos d'un cas.

INTRODUCTION: The choroidal coloboma is a congenital malformation that results from an anomaly of the embryonic fissure. This anomaly is frequently associated to numerous ocular and systemic anomalies, but rarely to familial adenomatous polyposis. CASE REPORT: We report a 12 years-old boy, who consulted for severe visual impairment of the right eye. The clinical examination revealed a coloboma of the iris and choroid and numerous lesions of congenital hypertrophy of the retinal pigmentary epithelium while exploration of the digestive tract revealed the presence of familial adenomatous polyposis. DISCUSSION: We discuss the physiopathological mechanisms of this rare case, associating on one hand a coloboma of iris and choroid and on the other hand a congenital hypertrophy of the retinal pigment epithelium and a familial adenomatous polyposis. To the best of our knowledge this association has never been described before. We also emphasize the importance of an ophthalmologic examination for screening familial adenomatous polyposis in a subject at risk.

[Persistent hyperplastic primary vitreous and Aicardi syndrome]. / Persistance et hyperplasie du vitré primitif et syndrome d'Aicardi.

INTRODUCTION: Aicardi syndrome is characterized by infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This disorder affects mostly females, with early embryonic lethality in males. Numerous general and ocular disorders may be associated with this affection. We present here a case of persistent hyperplastic primary vitreous (PHPV) in association with Aicardi syndrome in a 30-year-old woman. CASE REPORT: The authors report a case of a 30-year-old woman with Aicardi syndrome associated with persistent hyperplastic primary vitreous. DISCUSSION: Aicardi syndrome is a polymalformative disease occurring at an early period of embryogenesis. It can affect many ocular structures. This syndrome is essentially described in female children, who rarely reach an adult age. The observation we report is particular because of the patient's age (30-years-old) and the association with a persistent hyperplastic primary vitreous, exceptional in this context. CONCLUSION: With a review of the literature, the Authors discuss the clinical neuroradiological and prognostic aspects of this polymalformative syndrome and different associated general and ocular abnormalities, emphasizing particularly those of persistent hyperplastic primary vitreous in this affection.

[White-centered retinal hemorrhage revealing acute lymphoblastic leukemia]. / Hémorragie rétinienne à centre blanc révélant une leucémie aiguë lymphoblastique. A propos de deux cas.

Retinal involvement during leukemia is frequent (varying from 28% to 50%), can be the result of different mechanisms, and may reveal the disease. We describe two patients, 10 and 50 years old, who consulted for a sudden drop in visual acuity. Fundus examination showed bilateral retinal hemorrhage with a white center in both eyes associated with other hemorrhages in the posterior pole. Acute leukemia was found in both patients and chemotherapy was institgated. The younger patient died of general complications, the other is in remission phase. Retinal hemorrhage with a white center is a rare manifestation of acute leukemia and is exceptionally the first sign of the disease. Through these cases, we detail the physiopathology and clinical aspects. We stress the importance of ocular findings in leukemia in both diagnosis and therapy.

[Bilateral congenital aniridia: 5 case reports]. / Aniridie congénitale bilatérale familiale: à propos de 5 cas.

INTRODUCTION: Aniridia is a rare familial or sporadic disorder affecting not only the iris but also the cornea, angle structures, lens, optic nerve, and fovea. This disorder may be associated with many other systemic abnormalities such as urogenital malignancies. CASE REPORTS: A 44-Year-old man who complained of visual loss presented bilateral congenital aniridia with corneal dystrophy and dense cataract. His 12-Year-old daughter also presented visual loss with severe bilateral corneal dystrophy and total congenital cataract associated with aniridia. Two other daughters, 18 and 23 Years of age, and an 11-Year-old son had nystagmus with bilateral congenital cataract and ectopia lentis. Clinical and radiological investigations did not disclose evidence of extraocular abnormalities in this family. Three patients underwent cataract extraction without intraocular implantation and the aphakia was corrected with glasses. All three patients progressed well. DISCUSSION: This family provided a good illustration of the different clinical spectra of ocular involvement in congenital aniridia and its management difficulties, above all those of cataract surgery and correction of aphakia. CONCLUSION: Aniridia is a genetic disease with possible association with other ocular and systemic disorders, which may compromise visual and vital prognosis. Genetic advice is very important in such families.