Intermittent palpebral oedema following surgery for nasofrontal encephalocele.

PURPOSE: To report a case of intermittent palpebral oedema secondary to a cerebrospinal fluid (CSF) leakage, following encephalocele surgery. CLINICAL CASE: A 9-year-old girl consulted with a history of intermittent swelling of the left upper and lower eyelid. The symptoms started at the age of one. As a relevant fact in her medical history, a neurosurgical repair of a nasofrontal encephalocele at the age of 9 months was withheld. Elaborate imaging studies demonstrated a leakage of cerebrospinal fluid (CSF) into the preseptal periorbital soft tissues, originating from a bony defect in the medial orbital wall. The patient was treated conservatively. CONCLUSION: A CSF leakage in the orbital or periorbital region is a rare finding. In the literature, similar defects have been reported after trauma or associated with neoplasia. To our knowledge, this is the first case of periorbital CSF leakage after encephalocele-surgery reported in the literature.

Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome.

Keratitis ichthyosis deafness syndrome is a rare congenital ectodermal disorder. It appears to be genetically heterogeneous and may be caused by mutations in the connexin 26 (Cx26) gene (GJB2) or in the connexin 30 gene. It is characterized by the association of ichthyosis-like skin lesions, hearing loss, and vascularizing keratitis. We report the clinical and molecular findings in a 5-year-old girl with keratitis ichthyosis deafness syndrome. DNA sequencing in our patient revealed a p.Ser17Phe mutation in GJB2. Besides the typical clinical features of keratitis ichthyosis deafness syndrome, a peculiar intriguing finding not previously described in the literature in this condition was that polarizing light microscopy of the scalp hair in our patient revealed striking bright and dark bands as seen in trichothiodystrophy. Amino acid analysis of the hair sample also disclosed a reduced cysteine index. We emphasize that it would be of great benefit to examine hair shafts in other patients with keratitis ichthyosis deafness syndrome for trichothiodystrophy-like abnormalities.

Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome.

We present the ophthalmologic findings in a boy with a deletion of Xp22 comprising the gene for Nance-Horan syndrome. Different mechanisms underlying the visual impairment in Nance-Horan syndrome are discussed.

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

Megalocornea (corneal diameter > or = 13 mm) is associated with mental and neurological impairment, and minor anomalies in Neuhäuser syndrome (megalocornea-mental retardation syndrome). Here we report 4 new cases of megalocornea and mental retardation. Those unrelated patients have a consistent pattern of anomalies with possible recessive inheritance which clearly differs from that of the original patients of Neuhäuser et al. [1975]. We discuss the heterogeneity of the syndromes with megalocornea and mental retardation. Based on these cases and on a review of the literature, we suggest a provisional clinically oriented classification in 5 subtypes: (1) a recessive form type Neuhäuser (with iris hypoplasia and minor anomalies), (2) a recessive form type Frank-Temtamy (with camptodactyly, scoliosis and growth retardation), (3) a recessive type 3, including our 4 personal cases (with normal irides, severe hypotonia, relative or absolute macrocephaly and minor anomalies), (4) a possible Frydman type (with normal irides, megalencephaly and obesity), and (5) provisionally unclassifiable cases.

[Amblyopia due to ametropia]. / Amblyopie par amétropie.

The cause of amblyopia by ametropia is evaluated, hypoaccommodation plays an important role and also astigmatism. The treatment of hypermetropia by full spectacle correction is contested and the tests used to detect amblyopia and hypoaccommodation are described. The use of videorefraction and photoscreening is important in the follow-up of our patients.

[Evaluation and utilization of home visual aids prescribed to the satisfaction of the patients for age-related macular degeneration]. / Evaluation de l'utilisation à domicile des aides visuelles prescrites et de la satisfaction du patient, en cas de dégénérescence maculaire liée à l'âge.

We evaluated the subjective advantage given by optical visual aids to patients affected by Age Related Macular Degeneration (ARMD). A total of 51 patients with ARMD having magnifying visual aids were retrospectively analysed. The 51 patients have been splitted up in 2 groups according to the final macular aspect and 7 subgroups according to their treatment, and have been questioned about the subjective advantage of their optical aids. Out of the 51 patients, 71% were satisfied, 5% were moderately satisfied and 24% were unsatisfied. The group with the lowest visual acuity at 5 meters has a satisfaction percentage only slightly lower (71%) than that with a higher visual acuity (75%). From the patients with a visual acuity superior to 3/10, 58% were affected with a persistence of macular edema. Seventy six percent of the patients with edema and 65% of the patients with a dry macular scar use their low vision aid every day. In summary, an important percentage of the patients are satisfied with their visual aids, independently of the fact that the retina is exsudative or dry, or that the visual acuity is good or bad. It seems useful to propose these optical aids to any patient suffering from ARMD who complains about reading-difficulties.

Endogenous mycotic endophthalmitis in an infant.

We report a case of atypical bilateral endogenous mycotic endophthalmitis in an infant. A diagnostic vitrectomy was done on the left eye. Electron microscope examination of the vitreous demonstrated fungal mycelia. Intravenous treatment with amphotericin B seemed effective for treating the infection of the right eye, but a vitrectomy was necessary to prevent deprivation amblyopia and retinal traction, secondary to persistence of a dense vitreous membrane.

Neuro-ophthalmic complication after maxillary surgery.

We report an unusual case of ophthalmoplegia after maxillofacial surgery. A thirteen year old girl with unilateral left cleft lip and palate underwent maxillary advancement by distraction osteogenesis. Postoperatively she developed diplopia. The diplopia was not due to orbital lesions, most often seen after maxillofacial surgery, but to a haemorrhage posterior to the cavernous sinus.

The health condition of spinal cord injuries in two Afghan towns.

STUDY DESIGN: Cross-sectional. OBJECTIVES: To describe the population with spinal cord injury (SCI) in two major towns of Afghanistan. SETTING: Kabul and Herat, Afghanistan, March-July 2001. METHODS: The residents of Kabul and Herat (N=311) with traumatic SCI were retrieved and investigated. They underwent standardised interviews and clinical examinations assessing socio-demographic characteristics and information on health condition, injury, quality of life and rehabilitation outcome. RESULTS: The study population could be considered as the survivors in the harsh living conditions in Afghanistan of a supposedly much larger group, counting proportionately fewer females and fewer cervical lesions than expected. Acute care was practically nonexistent. Prevalences of urinary tract infections and pressure sores were high as no good management was available. Basic rehabilitation helped persons with SCI to attain a fairly good level of independence (total functional independence measure score mean=95, SD=19). Their quality of life was significantly lower than their neighbours of same age and sex (P< 0.0001). Along with the economic security and good access to the home, the use of the orthopaedic centre of the International Committee of the Red Cross (ICRC) contributed to a better quality of life. CONCLUSION: Thanks to the rehabilitation programme of the ICRC providing a basic but comprehensive rehabilitation, persons with SCI in Afghanistan are coping rather well. This result is remarkable considering the difficult economic and sanitary circumstances in the poorest country in the world.

A clinical and electrophysiological study of a family with hereditary optic neuropathy.

A family with hereditary optic neuropathy was investigated. Visual acuity, Goldmann perimetry, colour vision test, fundoscopy and electrophysiological examination (flash and pattern ERG and VER) were performed. The pattern of inheritance and the results of all these tests are discussed in this article.