[Ocular manifestations of arachnoid cysts in children: report of two cases]. / Kystes arachnoïdiens et manifestations ophtalmologiques chez l'enfant : à propos de deux cas.

Arachnoid cysts are congenital benign intracranial collections of cerebrospinal fluid. Most arachnoid cysts are small and asymptomatic. They are usually located in the temporal fossa. Classically described complications result from compression of adjacent structures and include neurologic involvement, headaches and seizures. There are few cases of arachnoid cysts with ophthalmic manifestations reported in the literature. We describe two pediatric cases of arachnoid cyst with ocular complications. A 12-month-old girl with a history of acquired nystagmus and enlarged head circumference was referred for ophthalmologic examination. An MRI study showed a 7cm×7cm arachnoid cyst in the left temporal fossa. Six months after cystocysternostomy, the nystagmus resolved. A 2-year-old girl with esotropia and severe amblyopia of the left eye was referred for ophthalmologic examination. Optic nerve hypoplasia was detected on left fundus examination. MRI demonstrated a supracellar arachnoid cyst with mass effect on the optic chiasm as well as hydrocephalus. She was referred to neurosurgery for shunt surgery. In the case of clinical signs such as nystagmus, optic nerve hypoplasia, papilledema and oculomotor palsy, an arachnoid cyst may be a probable cause.

[Unilateral isolated partial third nerve palsy and sphenoiditis in a child: A case report]. / Paralysie partielle du III isolée d'origine sinusienne chez un enfant : à propos d'un cas.

We report a case of unilateral mydriasis associated with sphenoid sinusitis and mucocele in a child. An 11-year-old girl with a history of unilateral mydriasis was referred for ophthalmologic examination. She complained of a mild headache over the past four days. The right pupil was dilated and nonreactive to light. The left pupil was normal and reactive. There was no ptosis or other focal neurological deficit. She was orthotropic. Visual acuity in both eyes, ocular motility and fundi were normal. Magnetic resonance imaging (MRI) showed a sphenoid sinus mucocele with sphenoiditis. The diagnosis was partial third nerve palsy without ophthalmoplegia. Treatment with antibiotics was initiated and led to complete resolution of the mydriasis. Sphenoid sinus mucoceles are relatively rare. Failure to diagnose and treat can lead to serious neurologic sequellae such as third nerve palsy, compressive optic neuropathy, cavernous sinus thrombosis, meningitis or brain abscess. Head imaging by reconstructed CT and MRI can lead to the diagnosis of mucocele. Isolated unilateral mydriasis as a sign of third nerve palsy may be caused by a slowly enlarging lesion. In a child with isolated unilateral mydriasis, head MRI should be performed to rule out a compressive lesion of the oculomotor nerve.

[Branch retinal vein occlusion and sarcoidosis in a child: a case report]. / Occlusion de branche veineuse de la rétine associée à une sarcoïdose chez l'enfant: à propos d'un cas.

We report a case of branch retinal vein occlusion associated with sarcoidosis in a child. A 13-year-old boy with a history of chronic fatigue was referred for ophthalmologic examination. Fundus examination in the right eye showed periphlebitis of the inferotemporal branch retinal vein, with nerve fiber layer hemorrhages without iridocyclitis. A fluorescein angiogram confirmed the occlusion of the inferotemporal branch retinal vein. His left eye was normal. The diagnosis of sarcoidosis, suggested by the presence of bilateral hilar adenopathy, increased angiotensin-converting enzyme levels, and lymphocytosis in the broncho-alveolar lavage, was confirmed by liver biopsy demonstrating epithelioid granulomas. Branch retinal vein occlusion was successfully treated with systemic corticosteroids. Branch retinal vein occlusion may occur as a rare vascular complication of sarcoidosis even without iridocyclitis.

[Acute total cataract in a 17-year-old woman]. / Cataracte aiguë chez une jeune fille diabétique.

Diabetes is a metabolic disease that has multiple consequences on the eye, particularly the retina but also the lens. However, in diabetic patients, the development of an acute decrease in vision is rarely caused by a cataract and diabetic lens opacities usually appear progressively several years after the diagnosis of diabetes. We present here the case of a young patient who had just been diagnosed with diabetes two months before and who developed an acute total cataract, responsible for a rapid decrease in vision. Then we discuss the possible mechanisms involved in its physiopathology.

[Congenital Horner syndrome associated with hypoplasia of the internal carotid artery]. / Syndrome de Claude Bernard-Horner congénital associé à une hypoplasie de la carotide interne.

INTRODUCTION: Hypoplasia of the internal carotid artery is a rare cause of congenital Horner syndrome. Birth trauma is the most common identifiable cause. We report a case of congenital Horner syndrome associated with ipsilateral hypoplasia of the internal carotid artery. OBSERVATION: A 5-month-old boy presented with left Horner syndrome with myosis, iris hypopigmentation, and enophthalmia. Cranial magnetic resonance imaging was normal. Cerebral angiography showed hypoplasia of the left internal carotid artery. The anterior and middle cerebral arterial flow was supplied through the communicating arteries. Computed tomography demonstrated hypoplasia of the left carotid canal. CONCLUSION: Infants with isolated congenital Horner syndrome with no history of birth trauma require complete investigation by a pediatrician. CT or MRI imaging should be discussed to search for associated abnormalities.

[Recurrent visual loss in Leber hereditary optic neuropathy: a case report]. / Baisse d'acuité visuelle récidivante dans la neuropathie optique de Leber: à propos d'un cas.

INTRODUCTION: We report an unusual case of Leber's hereditary optic neuropathy (LHON) in a 7-year-old boy with recurrent episodes of visual loss. OBSERVATION: A 7-year-old-boy developed acute severe bilateral optic neuropathy associated with mild optic disc edema. The patient was treated with high doses of systemic steroids followed by improvement in his vision. When the steroids were stopped his vision deteriorated. By the age of 14, this condition had recurred six times. At the age of 15, steroids were stopped and he was treated with azathioprin. At the age of 16, his visual acuity was 9/10 in his right eye and 8/10 in his left eye. Fundus examination showed bilateral optic atrophy. At the age of 15, his younger brother, 12 years old, developed severe visual loss in his left eye. Leber's hereditary optic neuropathy was suspected. Molecular genetic testing of their mother revealed the 11778 mtDNA mutation. DISCUSSION: In most patients with LHON, visual loss remains profound and permanent. However, recovery of even excellent central vision may occur years after visual deterioration. Recurrences of visual loss are extremely rare. LHON should be considered in any patient with acute bilateral optic neuropathy. In this patient, the visual improvement with corticosteroid treatment and no relapse with immunosuppressive treatment raises the problem of interrelated inflammatory optical neuropathy.

[Möbius syndrome: ocular and clinical manifestations]. / Syndrome de Möbius: manifestations ophtalmologiques et cliniques.

PURPOSE: To assess ocular and clinical manifestations in patients with Möbius syndrome. METHODS: Twenty-seven patients (26 infants and 1 adult) underwent prospective ophthalmic, clinical, neurological, otorhinological, orthopedic and electrophysiological assessment. Twenty-three patients underwent MRI and 20 patients genetic examination with karyotype. RESULTS: Three of 27 patients with cranial nerve palsies did not satisfy the criteria for Möbius syndrome. All 24 patients with Möbius syndrome had facial palsy. Nineteen patients (79.2%) had limited abduction. Eleven patients (45.9%) presented with esotropia, five patients (20.8%) presented with exotropia or hypertropia. Cranial nerve impairment of the Vth, IXth, XIth, and XIIth nerves was noted in 20 patients (83.4%). Other signs were general motor disability in 14 patients (58.2%), orthopedic abnormalities in eight patients (33.3%), and otorhinological abnormalities in six patients (25%). Electromyographic studies of facial muscles revealed neuromuscular changes in all cases. MRI findings showed hypoplasia of facial nerves in two patients (8.3%). Chromosomal abnormalities were not found. One patient presented an inherited inversion of the sixth chromosome. CONCLUSION: The diagnosis of Möbius syndrome may be difficult in some patients with atypical signs of facial diplegia and other cranial nerve palsies. When diagnosing Möbius syndrome, all ophthalmologic and clinical signs must be applied. Möbius syndrome is more than a cranial nerve or nuclear disorder. It is a syndrome of more complex lower brainstem involvement.

[Susac syndrome and ocular manifestation in a 14-year-old girl]. / Syndrome de Susac et atteinte ophtalmologique chez l'enfant.

A case of Susac syndrome in a child is reported with a review of the literature. A 14-year-old girl presented with headache, left hemiparesis, sphincter deficit, and cognitive deficits. The assessment consisted of neurological and ocular examination, imagery by cerebral magnetic resonance, lumbar puncture, and a biological and immunological assessment. Magnetic resonance imaging revealed numerous high signal intensities on T2-weighted images in the white and grey matter. The ophthalmologic examination found bilateral branch retinal artery occlusions. Twelve months later, she developed hearing loss. Infection assessment was negative and immunologic tests were normal. Susac syndrome is a rare disorder with a clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. It is caused by a microangiopathy affecting the precapillary arterioles of the brain, retina, and inner ear. Susac syndrome usually affects young women in young adulthood and is extremely rare during childhood. The pathogenesis of this syndrome is unknown. The clinical course of Susac syndrome is characterized by recurrent attacks. Resolution usually occurs spontaneously. However, sensory and neurologic sequelae may be present. Treatment is not well codified and may include steroids, immunosuppressant drugs, and immunoglobulin. Susac syndrome should be considered in children when evaluating patients with branch retinal artery occlusion and encephalopathy.

[Kikuchi's disease and ocular manifestation]. / Maladie de Kikuchi et atteinte ophtalmologique. A propos d'un cas.

PURPOSE: Report a case of oculomotor palsy with papillary edema in a child showing signs of Kikuchi's disease and review the literature. MATERIALS AND METHODS: A 10-year-old girl presented with diplopia with right ptosis, right exophthalmia, headache, generalized weakness, and fever. The assessment consisted of an ocular and neurological examination, imagery by cerebral magnetic resonance, a biological and immunological assessment, and a biopsy. RESULTS: The ophthalmologic examination found right exophthalmia with absence of right abduction and adduction, and right ptosis. The ocular fundus showed a bilateral papillary edema. Magnetic resonance revealed a bilateral intraconic attack of the orbital apex. The biopsy of cervical adenopathy showed a histiocytic necrotizing lymphadenitis. Infection assessment was negative and immunologic tests were normal. DISCUSSION: Kikuchi's disease, or histiocytic necrotizing lymphadenitis, is a rare disease in young patients that is characterized by adenopathy, fever, and neutropenia. The diagnosis was confirmed histologically. The etiology of Kikuchi's disease remains unknown, although a viral or autoimmune hypothesis has been suggested. The course of the disease is spontaneously favorable and recurrence is rare. Association with systemic lupus erythematous had been described. The differential diagnosis of Kikuchi's disease includes infectious necrotizing lymphadenitis, systemic lupus erythematous, and lymphoma. Ocular manifestation is exceptionally described (uveitis). CONCLUSION: Kikuchi's disease should be considered in children revealing ocular manifestations with lymphadenopathy and fever of unknown origin.

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare disease classically transmitted as an autosomal recessive trait and characterised by recurrent airway infections due to abnormal ciliary structure and function. To date, only two autosomal genes, DNAI1 and DNAH5 encoding axonemal dynein chains, have been shown to cause PCD with defective outer dynein arms. Here, we investigated one non-consanguineous family in which a woman with retinitis pigmentosa (RP) gave birth to two boys with a complex phenotype combining PCD, discovered in early childhood and characterised by partial dynein arm defects, and RP that occurred secondarily. The family history prompted us to search for an X linked gene that could account for both conditions. RESULTS: We found perfect segregation of the disease phenotype with RP3 associated markers (Xp21.1). Analysis of the retinitis pigmentosa GTPase regulator gene (RPGR) located at this locus revealed a mutation (631_IVS6+9del) in the two boys and their mother. As shown by study of RPGR transcripts expressed in nasal epithelial cells, this intragenic deletion, which leads to activation of a cryptic donor splice site, predicts a severely truncated protein. CONCLUSION: These data provide the first clear demonstration of X linked transmission of PCD. This unusual mode of inheritance of PCD in patients with particular phenotypic features (that is, partial dynein arm defects and association with RP), which should modify the current management of families affected by PCD or RP, unveils the importance of RPGR in the proper development of both respiratory ciliary structures and connecting cilia of photoreceptors.

[Management of acute visual loss in children]. / Conduite à tenir devant une baisse aiguë de l'acuité visuelle chez l'enfant.

Acute or rapidly progressive visual loss in children needs urgent attention and treatment. It may be unilateral orbilateral. Etiology depends upon the involved areas: eye ball, optic nerve, retro-chiasmatic pathways. Psychogenic origin is quite common in school-age children, however, it has to be considered last. Unilateral visual loss may be overlooked. Acute total transitory visual loss may be due to epilepsy or to migraine. Rapidly progressive visual loss may be due to retinal disease, optic neuritis or cortical blindness. Management of visual loss depends on clinical features, associated symptoms, and aspect of the optic disc. It needs collaboration between ophthalmologist,pediatrician and neuropediatrician. Retinal hemorrhages first call to mind a traumatic origin. Swelling of the optic disc may be due to increased intracranial pressure or due to optic neuritis. When the optic disc is normal it is necessary to rule out organic diseases before establishing the diagnosis of a psychogenic vision disturbance. In emergency, brain neuroimaging is the best way to diagnose intracranial mass and visualize optic pathways.

[Amblyopia and peri-ocular capillary hemangioma of infancy: screening and clinical course before and after surgery]. / Amblyopie et hémangiome orbito-palpébral capillaire chez le jeune enfant: dépistage et évolution pré et post-chirurgicale.

PURPOSE: The analysis of visual complications provoked by infantile periocular hemangiomas and the understanding of their evolution before and after surgery. MATERIAL: and methods: A retrospective study including 30 children (31 eyes) who were operated for a periocular hemangioma with a surgical technique with the aid of ultrasonic scalpel Cavitron. Ophthalmological evaluation before and after surgery included: appreciation of the palpebral occlusion, strabismus, ocular motility, objective refraction and amblyopia. RESULTS: Surgical operation was performed within an average age of 9.5 months. The excision of periocular hemangiomas was effective on the release of the visual axis and on the amblyopia: 51.7% (16 eyes) of palpebral occlusion before surgery against 6.4% (2 eyes) after surgery and 77.4% (24 eyes) of amblyopia before surgery against 38.7% (12 eyes) after surgery. The anisometropia decreased after surgery. The ocular motility and the strabismus also improved. CONCLUSION: Surgical excision of periocular hemangiomas with the aid of ultrasonic scalpel is an effective technique presenting few complications. This surgery can be suggested early in infancy. It has a very good result in the release of the visual axis and the astigmatism which aided the reeducation of the amblyopia.

[The Wiedemann-Beckwith syndrome and a congenital cataract]. / Cataracte congénitale et syndrome de Wiedemann-Beckwith.

Wiedemann-Beckwith syndrome is a congenital syndrome with characteristic abnormalities: omphalocele, macroglossia, neonatal gigantism, visceromegaly, hemihypertrophy and a predisposition to embryonic tumors. Ophthalmologic abnormalities have not been described with Wiedemann-Beckwith syndrome. The authors report one case of Wiedemann-Beckwith syndrome associated with bilateral congenital cataract. Family studies indicate linkage of the Wiedemann-Beckwith syndrome locus to the marker 11p15,5. The genetics of cataract is heterogenic. Several mutations responsible for congenital cataract have been described. The association of the Wiedemann-Beckwith syndrome and cataract may contribute to the understanding of the genetics of congenital cataract.

[Study of visual field and vigabatrin treatment in children]. / Etude du champ visuel et traitement par vigabatrin chez l'enfant.

INTRODUCTION: Concentric visual field defects have been described in association with vigabatrin, a GABA mimetic antiepileptic agent. Few cases have been reported in children. METHODS: A systematic ophthalmological examination was performed in 14 children treated with vigabatrin for seizures. A manual kinetic perimetry test (Goldmann) was done in 11 cases. The ERG was recorded in the 3 cases where perimetry could not be done. RESULTS: All children were asymptomatic. The mean age was 9.6 years. The mean duration of vigabatrin treatment was 41 months. The visual field was abnormal when central and peripheral fields were constricted. A visual field defect was discovered in 6 cases: 4 were severe, 2 were mild. When vigabatrin treatment was stopped, 1 case became worse, 1 case was slightly better, and 1 case remained stationary. A disturbed ERG was found in 3 children (depressed b-wave, raised a/b ratio). CONCLUSION: The visual field defects discovered in children treated with vigabatrin are similar to those described in adults. The incidence and progression of visual field constriction in children with and after vigabatrin treatment are not yet well known. Children treated with vigabatrin should therefore have systematic and regular ophthalmological perimetry, and ERG examinations.

[Congenital corneal anesthesia in children: diagnostic and therapeutic problems]. / Anesthésie cornéenne congénitale chez l'enfant : problèmes diagnostiques et thérapeutiques.

Congenital corneal anesthesia (CCA) is an uncommon condition difficult to diagnose. We report the case of a 9-month-old girl who presented bilateral congenital corneal anesthesia. The child had a corneal ulcer which had been unresponsive to adapted local treatment. Self-inflicted corneal injuries were present. Local treatment and arm splints led to quick healing. CCA occurs either alone or in association with neurological diseases (familial dysautonomia) or systemic congenital abnormalities (Goldenhar Gorlin syndrome). It is important to search for corneal anesthesia in children with chronic ulcerations of the cornea and self-inflicted injuries. Early diagnosis is important due to the risk for the visual prognosis. Short and longterm prevention of self-inflicted corneal injuries should be associated with a local treatment to assure rapid healing and a relapse free outcome.

Cerebral infarction associated with vasculitis due to varicella zoster virus in patients infected with the human immunodeficiency virus.

Cases of herpes zoster ophtalmicus (HZO) with delayed contralateral hemiparesis caused by hemispheric stroke secondary to granulomatous angiitis have been reported and are a well-recognized complication of herpes zoster. Similar cases have been reported more recently during infection with human immunodeficiency virus (HIV). We describe two HIV+ patients without any clinical history of zoster dermatitis who developed a sudden hemiparesis followed 2 weeks later for one by an acute retinal necrosis. Computerized tomography (CT) scan, magnetic resonance imaging (MRI), magnetic resonance angiography (MRA), and digital subtraction angiography (DSA) were performed and showed a hemispheric stroke with evidence of a segmental arteritis of the carotid syphon. Varicella zoster virus (VZV) was found in the cerebro spinal fluid (CSF) in the two patients and after puncture of the vitreous fluid of the patient with the acute retinal necrosis. These two cases exemplify the difficulty of diagnosis of stroke in HIV+ patients, which seems to be more frequent than in similarly aged non-infected patients and demonstrates that VZV needs to be taken in consideration and identified even without any past history of zoster dermatitis.

[Bouchut's tubercles. A clinical and angiographic study]. / Tubercules de Bouchut. Etude clinique et angiographique.

Four patients (3 young adults and 1 child) with disseminated tuberculosis had choroidal tubercles; none of them was immunodepressed. The clinical and angiographic aspects of these nodules and their evolution are described. Their clinical interest is discussed: fundus examination is always indicated in cases of disseminated tuberculosis and, more generally, in cases of systemic granulomatosis.

[Ocular toxoplasmosis in AIDS]. / Emergence de la toxoplasmose oculaire au cours du SIDA.

Since 1983, we have seen 11 cases of toxoplasmic retinochoroiditis in patients with AIDS. Ocular toxoplasmosis appears to be a growing concern in AIDS: 3.3% in 1983, 6.1% in 1988 and 5.9% during the first trimester of 1989. Anti-Toxoplasma gondii antibody titers in the aqueous humour were not conclusive, therefore the diagnosis was based on ophthalmoscopic criteria and on a rapid response to specific therapy. As for brain toxoplasmosis, treatment must be continued indefinitely to prevent relapse. Seven out of 11 patients had cerebral toxoplasmosis, which was diagnosed by computerized tomography (CT) scan. This suggests that a neurological evaluation and a brain CT scan should be performed in all AIDS patients with toxoplasmic retinochoroiditis.