Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study.

OBJECTIVE: To estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10-year period. DESIGN: Retrospective population-based registry study. SETTING: All maternity units in Paris, France, from 2010 to 2020. POPULATION: A cohort of 115 cases of CEA detected among all live births or stillbirths, after 22 weeks of gestation, and terminations of pregnancy. METHODS: The total prevalence of CEAs and prevalence of each specific CEA were calculated using 95% Poisson exact confidence intervals. MAIN OUTCOME MEASURES: The total prevalence of CEAs and the proportion of prenatal diagnosis of CEAs, and their evolution. RESULTS: The prevalence of CEAs was 4.1 (95% CI 3.4-5.0) cases, ranging between 3.1 and 5.7 cases, per 10 000 births. CEAs were prenatally diagnosed in 23.5% of cases. CEAs were bilateral in 51 cases (44.3%), unilateral in 43 cases (37.4%) and missing or unknown in 21 cases (18.3%). Of those with CEAs, 20.9% had genetic anomalies and 53.0% had at least one other extraocular anomaly. When detected prenatally, CEAs were bilateral in 15 cases (55.6%), unilateral in eight cases (29.6%) and missing in the four remaining cases. The prenatal diagnosis rate of CEAs associated with genetic anomalies, CEA cases with at least one other malformation and isolated CEA cases were 29.2%, 26.2% and 13.3%, respectively. CONCLUSIONS: In total, 115 cases of CEAs were observed during the study period, representing a total prevalence of 4.1 cases per 10 000 births. The overall prenatal detection rate of CEAs in our population was 23.5%, which dropped to 13.3% for isolated cases of CEAs.

Diagnosis and management of congenital hypopituitarism in children.

Hypopituitarism (or pituitary deficiency) is a rare disease with an estimated prevalence of between 1/16,000 and 1/26,000 individuals, defined by insufficient production of one or several anterior pituitary hormones (growth hormone [GH], thyroid-stimulating hormone [TSH], adrenocorticotropic hormone [ACTH], luteinizing hormone [LH], follicle-stimulating hormone [FSH], prolactin), in association or not with diabetes insipidus (antidiuretic hormone [ADH] deficiency). While in adults hypopituitarism is mostly an acquired disease (tumors, irradiation), in children it is most often a congenital condition, due to abnormal pituitary development. Clinical symptoms vary considerably from isolated to combined deficiencies and between syndromic and non-syndromic forms. Early signs are non-specific but should not be overlooked. Diagnosis is based on a combination of clinical, laboratory (testing of all hormonal axes), imaging (brain magnetic resonance imaging [MRI] with thin slices centered on the hypothalamic-pituitary region), and genetic (next-generation sequencing of genes involved in pituitary development, array-based comparative genomic hybridization, and/or genomic analysis) findings. Early brain MRI is crucial in neonates or in cases of severe hormone deficiency for differential diagnosis and to inform syndrome workup. This article presents recommendations for hormone replacement therapy for each of the respective deficient axes. Lifelong follow-up with an endocrinologist is required, including in adulthood, with multidisciplinary management for patients with syndromic forms or comorbidities. Treatment objectives include alleviating symptoms, preventing comorbidities and acute complications, and optimal social and educational integration.

Increased Incidence of Pediatric Uveitis Associated with the COVID-19 Pandemic Occurring Before COVID-19 Vaccine Implementation: A Time-Series Analysis.

OBJECTIVE: To examine whether the COVID-19 pandemic was associated with an increased incidence of uveitis in children. STUDY DESIGN: We performed a time-series analysis of patient records from a national, hospital-based, French surveillance system. All children hospitalized for uveitis in France between January 2012 and March 2022 were included. The incidence of newly diagnosed uveitis per 100 000 children per trimester in France was analyzed by a quasi-Poisson regression. A cohort of children diagnosed with uveitis at Robert-Debré Hospital was used to compare the characteristics of uveitis after and before the onset of the pandemic. RESULTS: During the study period, 2492 children were hospitalized for uveitis in France. The COVID-19 pandemic, which started in March 2020, was associated with a significant increase in the occurrence of uveitis (estimated cumulative change, 44.9%; 95% CI 11.4-78.4; P < .001). The increase in the incidence of pediatric uveitis started in October 2020, while the national immunization program targeting children aged less than 18 years began in June 2021. This increase involved all forms of uveitis, regardless of location, and clincial characteristics were similar to those diagnosed before the pandemic. CONCLUSIONS: Our study evidenced a significant increase in the incidence of pediatric uveitis following the COVID-19 pandemic. This increase occurred 6 months before the implementation of the national COVID-19 vaccination program for children, suggesting that the resurgence of this rare disease is independent of COVID-19 vaccination.

A new lysosomal storage disorder resembling Morquio syndrome in sibs.

We report two male sibs, born from unrelated French Caribbean parents, presenting with an unclassifiable storage disorder. Pregnancy and delivery were uneventful. Stunted growth was noted during the first year of life. Both children have short stature (below - 4SD) with short trunk, barrel chest, micromelia with rhizomelic shortening, severe kyphoscoliosis, pectus carinatum, short hands and feet with metatarsus adductus, and excessive joint laxity of the small joints. Learning difficulties with borderline intelligence quotient (IQ) were noted in one of them. They had no hepatomegaly, no splenomegaly, and no dysmorphism. Skeletal X-rays survey demonstrated generalized platyspondyly with tongue-like deformity of the anterior part of the vertebral bodies, hypoplasia of the odontoid process, generalized epiphyseal dysplasia and abnormally shaped metaphyses. The acetabular roofs had a trident aspect. Ophthalmologic and cardiac examinations were normal. Spine deformity required surgical correction in one of the patient at age 4 years. Lysosomal enzymes assays including N-acetylgalactosamine-6-sulfate sulfatase and ß-galactosidase were normal, excluding mucopolysaccharidoses type IV A and IV B (Morquio syndrome), respectively. Qualitative analysis found traces of dermatan and chondroitin-sulfates in urine, but quantitative glycosaminoglycan excretion fell within normal limits. They were no vacuolated lymphocytes. Abnormal coarse inclusions were present in eosinophils. Mild Alder anomaly was observed in polymorphonuclears. Granulations were discretely metachromatic with toluidine blue. Those morphological anomalies are in favor of a lysosomal storage disease. No inclusions were found in skin fibroblasts. We hypothesize that these two boys have a distinct autosomal recessive or X-linked lysosomal storage disorder of unknown origin that shares clinical and radiological features with Morquio disease.

Postural control in children with strabismus: effect of eye surgery.

The purpose of this study was to examine the postural control in children with strabismus before and after eye surgery. Control of posture is a complex multi-sensorial process relying on visual, vestibular and proprioceptive systems. Reduced influence of one of such systems leads to postural adaptation due to a compensation of one of the other systems [3]. Nine children with strabismus (4-8 years old) participated in the study. Ophthalmologic, orthoptic, vestibular and postural tests were done before and twice (2 and 8 weeks) after eye surgery. Postural stability was measured by a platform (TechnoConcept): two components of the optic flux were used for stimulation (contraction and expansion) and two conditions were tested eyes open and eyes closed. The surface area of the center of pressure (CoP), the variance of speed of the CoP and the frequency spectrum of the platform oscillations by fast Fourier transformation were analysed. Before surgery, similar to typically developing children, postural stability was better in the eyes open condition. The frequency analysis revealed that for the low frequency band more energy was spent in the antero-posterior direction compared to the medio-lateral one while the opposite occurred for the middle and the high frequency bands. After surgery, the eye deviation was reduced in all children and their postural stability also improved. However, the energy of the high frequency band in the medio-lateral direction increased significantly. These findings suggest that eye surgery influences somatosensory properties of extra-ocular muscles leading to improvement of postural control and that binocular visual perception could influence the whole body.

Ocular threat in juvenile idiopathic arthritis.

OBJECTIVES: Uveitis is the most severe complication of juvenile idiopathic arthritis (JIA). The diagnosis may be delayed, as visual symptoms are usually absent, which provides time for insidious complications. The course is chronic and long-term treatment is therefore required. METHODS: We retrospectively reviewed the medical records of 75 children with uveitis who accounted for 10.5% of all patients with JIA seen at our pediatric rheumatology outpatient clinic between July 1997 and July 2007. RESULTS: Uveitis occurred chiefly in patients with pauciarticular JIA. At last follow-up, in 69 patients in whom the files could be satisfactorily reviewed, only the anterior compartment was involved in 59.4% and both the anterior and the posterior compartments in the remainder. Mean age at the uveitis diagnosis was 4.5 years. In 9 (13.0%) patients, uveitis antedated joint manifestations; in 17 (24.7%) both were diagnosed simultaneously; and in 43 (62.3%) arthritis antedated uveitis. In 42 (61%) patients, complications occurred (synechiae, papillary block, cataract, hyalitis, papilledema, glaucoma, macular edema, elevated intraocular pressure, vision loss, and hypotonia). Topical medications were used in all patients for at least 3 months. Severe ocular involvement required systemic glucocorticoid therapy in 29 (42.0%) patients. Among immunomodulating agents, methotrexate and cyclosporine were used in 41 patients and TNFalpha antagonists in 15 patients. Surgery was performed in 21 (30.4%) patients. Uveitis completely resolved in 12 (17.4%) patients, a relapsing course occurred in 14 (20.3%), and became chronic with relapses as soon as the topical treatment was decreased in 23 (33.3%). A severe course was observed in 21 (30.4%) patients of whom 3 became blind and 4 lost vision in one eye. CONCLUSION: Uveitis is a severe complication of JIA. Patients with JIA should receive routine ophthalmological follow-up at regular intervals, even is their joint disease is quiescent.