[Parathyromatosis: An uncommon cause of recurrent hyperparathyroidism]. / Parathyromatose : une cause rare d'hyperparathyroïdie récidivante.

INTRODUCTION: Parathyromatosis is a rare cause of recurrent hyperparathyroidism. It results from hyperfunctioning parathyroid tissue scattered throughout the thyroid bed region. CASE REPORT: A 51-year-old man with a history of parathyroidectomy, presented 18 years later with recurrent primary hyperparathyroidism. Surgical exploration identified a single parathyroid gland. The act was completed by a central compartment dissection and ipsilateral lobectomy. The patient was free of recurrence after a one-year follow-up. CONCLUSION: Parathyromatosis a rare cause of recurrent hyperparathyroidism. Its management is challenging. Extensive surgery is required with clearance of the central neck compartment and homolateral lobectomy. Medical therapy could be used to decrease parathormone level in recurrent parathyromatosis.

Burkitt lymphoma in a child with Bloom syndrome.

BACKGROUND: Bloom syndrome is a rare disease characterized by chromosomal instability and increased risk of developing lymphoma. OBSERVATION: We report on a case of Bloom syndrome in a 5-year-old boy with Burkitt lymphoma. The diagnosis was suspected by growth retardation, repeated respiratory infections, facial telangiectasia, and a low immunoglobulin level, then confirmed cytogenetically by sister chromatid exchanges. Chemotherapy was poorly tolerated, which required reducing the doses. Unfortunately, it was not sufficient to control the neoplasm and the patient died 14 months after diagnosis. CONCLUSIONS: Cancers in Bloom syndrome are a challenge since the potentially life-threatening side effects of the chemotherapy may require modifications in standard treatment such as dose reduction, which can compromise the tumor prognosis.

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

Mucopolysaccharidosis type IVA (MPS IVA; OMIM #253000) or Morquio A syndrome is an autosomal recessive inborn error resulting from the deficient activity of the lysosomal enzyme, N-acetylgalactosamine-6-sulfatase (GALNS), and the progressive lysosomal accumulation of sulfated glycosaminoglycans. Clinically, the severe form of this lysosomal storage disease is characterized by a characteristic severe bone dysplasia and normal intelligence. To date, a variety of mutations have been associated with the severe MPS IVA phenotype. Here, we report the GALNS mutations in six severe MPS IVA patients from four unrelated Tunisian families. For mutation detection, each of the 14 exons and adjacent intron-exon junctions of the GALNS gene were sequenced after PCR-amplification from genomic DNA. Two novel mutations were identified: a G to A transition in the conserved 5' donor splice site of intron 1 (GACgt-->GACat: designated IVS1(+1g-->a)) and a G to C transversion in codon 66 of exon 2 predicting a glycine to arginine substitution (G66R). The IVS1(+1g-->a) mutation was homozygous in five similarly affected patients from three presumably unrelated families, but haplotype analysis suggested a common ancestor. The affected patient in the fourth family was homozygous for the G66R mutation. These are the first GALNS mutations causing severe MPS IVA disease identified in Tunisia. These molecular findings provide genotype/phenotype correlations, and permit accurate carrier detection, prenatal diagnosis, and counseling for MPS IVA disease in Tunisia where first cousin consanguineous mating remains frequent.

[Retinal detachment after Excimer laser (myopic LASIK or PRK). A retrospective multicentric study: 15 cases]. / Décollement de rétine post laser Excimer (Lasik/PKR myopique). Etude multicentrique rétrospective (15 cas).

INTRODUCTION: Refractive surgery by LASIK or photorefractive keratectomy (PRK) generaly aims at a myopic population that has a high probability of developing rhegmatogenous retinal detachment (RD). The authors report a multicenter study with 15 cases of RD appearing after refractive surgery by Excimer laser and discuss the role played by the techniques used. MATERIAL AND METHODS: Five centers fitted with nine Excimer laser devices took part in this study. Of 22,700 eyes undergoing refractive myopic surgery during the period 1994-2002, 15 eyes developed rhegmatogenous RD. The average age of the patients with RD was 37 years. The average myopia was 13.5 D. RD occurred a mean of 20 months after refractive laser. RESULTS: Fifteen eyes of 13 patients developed a rhegmatogenous RD, two of which were bilateral. Eight of these cases had LASIK surgery and six had photorefractive keratectomy; one of the latter patients was retreated with LASIK because of substantial regression after PRK. RD was total or subtotal in five eyes, partial superior with a temporal tear in six eyes, and nasal in three eyes. One case with inferior RD, two cases with giant retinal tear and one case with posterior tear were also repaired. Fourteen eyes were suitable for operation. The retina was reattached in 12 cases. Mean postoperative visual acuity was 7/10. DISCUSSION: The occurrence of rhegmatogenous RD in the myopic population is estimated at 2.2%. It is estimated at 0.1% in the emmetropic population. The Excimer laser, through its thermic effects, shock wave, traumatism undergone by the suction ring at the time of LASIK surgery, could increase this risk in myopic patients. A review of the literature cast doubt on the cause and effect hypothesis. Personal and multicenter studies (including ours) show that the frequency rate of rhegmatogenous RD after Excimer laser is equivalent and even lower than that estimated with an emmetropic population. The low percentage of RD after Excimer surgery found in the literature as well as in our study (<0.1%) may be explained by patient selection, the systematic monitoring of the peripheral fundus, and the prophylactic treatment of degenerative lesions by photocoagulation. In RD surgery, the cornea must be manipulated carefully, a case of flap dehiscence has been reported in the literature. CONCLUSION: Refractive surgery by LASIK or PRK for severe myopia increases the risk of RD. Systematically monitoring the peripheral fundus and preventive photocoagulation have mitigated its occurrence, and the risk incurred in the myopic population has fallen to the emmetropic population's rate. Nevertheless, candidates for LASIK or PRK surgery must be informed because severe myopia constitutes a non-negligible risk factor.

[Determination of anti-transglutaminase antibodies in the diagnosis of coeliac disease in children: results of a five year prospective study]. / Dosage des anticorps anti-transglutaminase dans le diagnostic de la maladie coeliaque de l'enfant: résultats d'une étude prospective sur cinq ans.

AIM: To evaluate the interest of IgA antibodies to tissue transglutaminase in the diagnosis of children coeliac disease compared with anti-endomysium and anti-gliadin antibodies. SUBJECTS AND METHODS: Seventy children with coeliac disease (mean age: 5 years and 8 months) and 99 disease controls (mean age: 4 years and 5 months). IgA anti-transglutaminase were tested by ELISA using a human recombinant tissue transglutaminase. IgA anti-endomysium were detected by indirect immunofluorescence on monkey oesophagus. RESULTS: The middle rate of IgA anti-transglutaminase was 101.06 units in patients and only 0.47 unit in controls. IgA anti-transglutaminase and IgA anti-endomysium were in agreement in 98.8% of cases; only two cases were discordant (+/- and -/+). Globally, the two markers had the same sensitivity (90%), specificity (98%), negative (93.2%) and positive (96.9%) predictive values. For anti-gliadin antibodies, the IgG were more sensitive (88.6%) and the IgA more specific (93.9%). CONCLUSION: IgA anti-tissue transglutaminase can be used instead of IgA anti-endomysium as a serological marker of screening and diagnosis of coeliac disease in children after 3 years.

[Diastematomyelia: antenatal diagnosis with successful outcome, two cases]. / Diastématomyélie: à propos de deux observations anténatales et revue de la littérature.

To discuss, through a review of the literature, clinical signification and antenatal and postnatal management of diastematomyelia. We present two cases highlighting the clinical presentation and discuss management options. The first case was diagnosed in a 32-year-old primagravida female physician. The conssanguinous couple had a history of primary hypofertility. Antenatal magnetic resonance imaging revealed the presence of a sagittal spinal spur separating two asymmetrical hemi cords. Pregnancy was not interrupted due to the lack of factors of poor prognosis. The infant was delivered at term and outcome has been favorable at 18 months follow-up. Ultrasonography performed at 22 weeks gestation provided the diagnosis in the second case. The mother was a 30-year-old primagravida anesthesist who had been addressed for suspected spina bifida. The consanguinous couple had a history of male hypoferility. The ultrasound scan revealed an echogenic spinal spur and integrity of the skin. Pregnancy was not interrupted due to the lack of factors of poor prognosis. The infant was delivered at term and outcome has been favorable at 18 months follow-up. Diastematomyelia is a rare malformation which can be diagnosed antenatally. Careful ultrasonography can distinguish diastematomyelia from myelomeningocele. Antenatal assessment is essential to identify forms with good prognosis because the neonatal outcome of isolated diastematomyelia is generally good, even if surgical repair is required.

[Penetrating keratoplasty in ocular cicatricial pemphigoid]. / La kératoplastie transfixiante dans la pemphigoïde oculaire cicatricielle.

PURPOSE: Ocular cicatricial pemphigoid (OCP) is a chronic progressive disease characterised by exacerbations of immunologically driven conjunctival inflammation. In the advanced stages of the disease, severe xerosis with mechanical factors may contribute to the development of blinding keratopathy. The authors report two cases of penetrating keratoplasty (PK) in patients with OCP and discuss the modalities of the surgical procedure for this particular disease. METHODS: Two patients with stage III OCP according to Foster's classification, underwent PK. Initial and final visual acuity, indications of PK, surgical procedure, postoperative therapy, and complications were recorded. RESULTS: For the first patient, after 3 months of follow-up, the graft is still clear, with a remarkable improvement in vision (3/10). For the second patient, however, graft rejection developed 15 days after the operation, complicated later by endophthalmitis, which was controlled with an antibiotic. DISCUSSION: The progression of ocular pemphigoid involves the filling of the conjunctival fornices, formation of symblepharon with lagophthalmos, and dry eye, from which blinding keratopathy can originate. A corticosteroid-based or immunosuppressant treatment blocks the progression of the fibrosis but does not get rid of palpebrale or corneal anomalies, making surgery necessary. This surgery generally gives disappointing results and should be planned when the disease is perfectly under control, during a lull in the disease so as to avoid reactivation of the fibrosis process. Reconstruction of the conjunctival fornices should also precede any corneal transplantation. CONCLUSION: These results indicate that PK may be performed to restore of sight in patients with advanced OCP after controlling the primary immunological process and aggressive treatment of the mechanical factors damaging the ocular surface.

[Effectiveness of conjunctival autograft transplantation in pterygium surgery]. / Apport de l'autogreffe conjonctivale dans la chirurgie du ptérygion.

INTRODUCTION: Pterygium is a fibrovascular overgrowth of bulbar cunjonctiva over the cornea and may produce visual impairment. Many surgical techniques and adjunctive therapies have been proposed but recurrence remains frequent. MATERIALS AND METHODS: We report a prospective study of 52 eyes treated by limbal conjunctival autograft for primary and recurrent pterygium. We compare our results with the technique of simple excision performed in 111 cases of pterygium (3 being a recurrent pterygium). RESULTS: The mean age of the patients was 45 years. 30 cases of pterygium were primary (57.7%) and 22 were recurrent (42.3%). After an average follow-up of 14 months, the incidence of recurrence was 10%. Only 2 of these recurrent cases of pterygium were primary. DISCUSSION: Conjunctival autograft is a simple, safe, and highly effective procedure for the treatment of pterygium. It reduces the rate of recurrence more than simple excision (55.9% after a follow-up of 1 year). CONCLUSION: The introduction of limbal conjunctival autograft for the treatment of pterygium meets three main goals: safety, good optical outcome and a lower rate of recurrence. This procedure could be accepted as a successful technique for cases with recurrent pterygium specially in younger patients and when the environment al factors lower the development of recurrent pterygium.

[Pterygium: surgical treatment]. / Ptérygion: traitement chirurgical.

PURPOSE: The surgical management of pterygium is often complicated by recurrence of disease. The goal of this study was to compare three different surgical techniques used for the treatment of pterygium. METHOD: We propose a prospective and partly retrospective study on 167 cases of pterygium 151 were primary and 16 were recurrent, treated between 1 January, 1995 and 30 June, 1998. The surgical treatment used of 3 different techniques: pterygium excision for 111 eyes, pterygium excision with conjunctival autograft for 29 eyes, pterygium excision with application of mitomycin C for 27 eyes. RESULTS: Immediate results for the three kinds of treatment were good. No serious complications were noted. Long-term results show a recurrence rate of 10.3% for conjunctival autograft, 11.1% for mitomycin C application, while the pterygium excision alone had a recurrence rate of 55.9%. CONCLUSION: This study demonstrated that conjunctival autografting and the application of mitomycin C are safe surgical techniques that reduce the probability of recurrence after surgery for pterygium. They can be recommended for young people and patients exposed to sun. Mitomycin therapy is the most appropriate treatment for these cases, because of its simplicity, lower lost and the relative lack of complication.

[Primary malignant paratesticular tumors: report of six cases]. / Les tumeurs malignes primitives paratesticulaires: à propos de six cas.

The authors report six cases of primary malignant paratesticular tumors. They reexamine the literature and emphasize the influence of the histopathological type of these tumors on the prognosis. Survival of the patients is better when tumors are differentiated and detected early.

[Primary paratesticular malignant tumors: report of 6 cases]. / Les tumeurs malignes primitives paratesticulaires: à propos de six cas.

The authors have made a study of 6 cases of malignant primary paratesticular tumor, and have also included a review of the literature on this topic. They emphasize the importance of the effect of histopathological type of tumor on disease outcome. There is an improved survival potential in cases where the tumors are differentiated, and discovered at an early date.

[Effect of scleral indentation on the corneal topography and the axial length after retinal detachment surgery. A prospective study in 30 cases]. / Influence de l'indentation sclérale sur la topographie cornéenne et la longueur axiale dans la chirurgie du décollement rétinien. Etude prospective à oriois de 30 yeux.

INTRODUCTION: Scleral indentation is an essential time in conventional retinal detachment surgery. It enables re-establishing retinal contact and to counterbalance vitreal tractions. It can be circular, segmental or radial. Silicone materials are often used. MATERIALS: In a prospective study, we followed up 30 eyes of patients who underwent retinal detachment surgery. We analyzed changes in corneal surface using differential map of the corneal (induced astigmatism, meridian axial deviation) and change in the axial length of the globe. RESULTS AND DISCUSSION: Follow-up examination showed corneal astigmatism: 2.62 diopter (D) at one week, 2.37D at one month and 1.80D at 3 months. Corneal axis meridians changed: 25 degrees at one week and 18.6 degrees at 2 months. Axial length was also modified. We observed a lengthening: 1.7mm during the first week which remained unchanged at 1.63 after 2 and 3 months. These changes were studied according to the different techniques used in our study and were compared with results reported in the literature. CONCLUSION: We think that conventional retinal detachment surgery causes modifications in refractis (induced astigmatism and axial lengthening).

[Blepharitis due to Demodex: myth or reality?]. / Blépharite à Démodex: mythe ou réalité?

PURPOSE: Demodex folliculorum has been incriminated in the development of blepharitis although much controversy persists. Certain authors suggest that Demodex is a direct pathogen in chronic palpebral conditions while others consider the saprophyte to be innocuous to skin. METHODS: We conducted a prospective study of eyelashes in 100 persons, searching for Demodex folliculorum and chronic blepharitis. Microscopy in immersion oil after storage in a moist chamber was performed. RESULTS: The incidence of Demodex folliculorum was very high in patients with blepharitis compared with normal controls. Incidence increased with age. Harmless cuffs around the base of the eyelashes was found in 4% with Demodex irradior. CONCLUSION: Demodex should be considered as the cause of chronic blepharitis. Anti-Demodex treatment is indicated when the parasite is found.

[Exophthalmos and blindness disclosing an ethmoidal-maxillary malignant non-Hodgkin's T-cell lymphoma. Apropos of a case]. / Exophtalmie et cécité révélant un lymphome malin non-hodgkinien ethmoïdo-maxillaire à cellules T. A propos d'une observation.

BACKGROUND: We report a case of non-Hodgkin's malignant lymphoma of the cervicofacial region revealed by unilateral exophthalmos and blindness, an unusual mode of expression. CASE REPORT: A 40-year-old man with a 4-month history of diabetes mellitus had suffered from exophthalmos and blindness of the right eye for 20 years. Physical examination showed a homolateral hemifacial tumefaction and ophthalmoplegia. The right ocular fundus showed papillar edema and non-proliferative diabetic retinopathy. The left eye was normal. The otolaryngology explorations revealed a voluminous tumor in the anterior nasal cavity and in the cavum. Two biopsies were performed. Histology reported non-Hodgkin's T-cell lymphoma. Orbitocerebral and cervicofacial computed tomography visualized the aggressive ethmoidomaxillary extension with intraorbital and intracranial involvement. Chemotherapy (CHOP) combined with radiotherapy led to tumor regression and involution of the exophthalmos. Diagnostic difficulties, management and prognosis are discussed.

[Hydatid orbital cyst: a unique intra-orbital locality. A case report]. / Kyste hydatique de l'orbite: localisation intra-orbitaire unique. A propos d'une observation.

Orbital hydatidosis is uncommon, accounting for 1 to 2% of all localizations. It is caused by Echinococcus granulosis, a dog parasite tapeworm. We report an intra-orbital hydatid cyst observed in a five-year-old boy, presenting the main features of this unusual localization. Hydatid cyst should be evoked in case of tumorous exophthalmia in young patients, especially in children having lived in endemic zones. The preoperative diagnosis is based on clinical findings and ultrasonographic, computed tomographic and magnetic resonance imaging findings. The fronto-orbital approach is most commonly used for treatment. Infectious and functional prognosis depends on early surgery.

[Primary gastric MALT lymphoma in children. Report of 2 cases]. / Lymphome primitif gastrique de type malt de l'enfant. A propos de 2 cas.

Primary gastric MALT non-Hodgkin's lymphoma is rare in immunocompetent children. To our knowledge, only two cases have been previously described. We report two cases of gastric MALT lymphoma associated with Helicobacter pylori. Clinico-pathological features are similar to those observed in adults. The relationship between the microbial infection and non-Hodgkin's lymphoma development is discussed.

[Childhood plaque milia of the inner canthus]. / Milium en plaque, infantile, du canthus interne.

BACKGROUND: Milia en plaque is an uncommon skin condition usually seen in adult women, typically in the retroauricular region. We report a new localization in a young child. CASE REPORT: A 6-year-old girl with an uneventful history had developed over the last 7 months an erythematous plaque with numerous whitish-yellow microcysts on the left internal canthus. No local or general favoring factor was found. Skin biopsy showed numerous cystic cavities with an epidermal lining containing layers of keratin within a moderately inflammatory infiltration. The lesion resolved after enucleation of the cysts and no recurrence has been observed after 9 months follow-up. DISCUSSION: Milia en plaque is a charateristic erythematous lesion covered with cysts. The usual localization is the retroauricular region, but other localizations have been reported, mainly on the head. This is the first report involving the internal canthus and also in such a young child. One case of a 15-year-old boy has been discribed. Milia en plaque is often a primary condition as in our case although local or general factors may rarely be inductive. Our case illustrates the different localizations possible for milia en plaque, with predominance on the head, and the possibility of childhood cases. We prefer the term milia en plaque rather than retroauricular milia en plaque.