Landau-Kleffner syndrome (LKS) in an 8-year-old girl: a case report and review of the literature.

Introduction and importance: Landau-Kleffner syndrome (LKS) is a rare epileptic encephalopathy characterized by language regression and abnormal electroencephalogram (EEG) patterns. This case report highlights the importance of early recognition and intervention in LKS, as well as the challenges in diagnosis and management due to its varied clinical manifestations. Case presentation: An 8-year-old girl presented with delayed speech, suspected hearing loss, and regression in language skills. Diagnostic tests revealed mild sensorineural hearing loss and EEG abnormalities consistent with LKS. The patient underwent speech therapy and received pharmacological treatment with valproic acid, resulting in significant improvements in language function. Clinical discussion: This case report provides insights into the typical features of LKS, including language regression and EEG abnormalities. It also highlights uncommon findings such as sensorineural hearing loss and mild intellectual delay. The multidisciplinary approach involving neurology, audiology, speech therapy, and education is crucial in the diagnosis and management of LKS. Conclusion: Early recognition and intervention, along with tailored pharmacological approaches and a multidisciplinary care approach, are essential in managing LKS. Further research is needed to better understand the pathophysiology, natural history, and optimal treatment of LKS, aiming to improve long-term outcomes for affected children and their families.

Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine.

Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by retinitis pigmentosa, polydactyly, type 2 diabetes mellitus, and obesity. This case report presents a 19-year-old male from Palestine with BBS, exhibiting delayed diagnosis and variable phenotypic expression. The patient had familial BBS history and presented with obesity, type 2 diabetes mellitus, retinitis pigmentosa, and cryptorchidism. Genetic analysis identified heterozygous missense variants in the FBN3 gene, yet additional genetic factors may contribute to the phenotype. Renal abnormalities included kidney shrinkage and mild hydronephrosis. Management of this patient involves a multidisciplinary approach with lifestyle modifications, surgical interventions, and supportive care. Early diagnosis, genetic counseling, and regular follow-up are crucial for improving outcomes in BBS. This report highlights diagnostic and therapeutic challenges and underscores the need for further research on this complex disorder.

A 7-year-old with extravaginal torsion of an undescended testicle in the left inguinal region: The first case report from Syria.

The incidence of undescended testicles torsion in a 7-year-old is rare, making it a clinically unusual occurrence. Emphasizing the importance of thorough urogenital assessments in children, particularly in underserved communities, is critical to prevent serious complications like testicular gangrene.

Bilateral Renal Lymphangiomatosis: A Case Report and Literature Review.

Renal lymphangiomatosis is a rare congenital condition characterized by the abnormal development of lymphatic channels in the kidney, resulting in cystic dilatations. While more commonly observed in children, it can occur in adults but is extremely rare. Clinical manifestations range from asymptomatic cases to symptoms such as abdominal pain, hypertension, and renal dysfunction. In this case report, we present a rare case of bilateral renal lymphangiomatosis in an eight-year-old male with high blood pressure. Renal ultrasound revealed bilateral kidney enlargement and perinephric hypoechoic collections with septations consistent with lymphangiomatosis. The diagnosis was confirmed through CT imaging which shows bilateral non-enhancing perinephric collections. As a part of the patient's management plan, bilateral perinephric cystic lesions were successfully aspirated without complications. In conclusion, accurate diagnosis is crucial for appropriate management decisions, and treatment primarily focuses on conservative measures to manage associated hypertension, reduce lymphatic fluid accumulation, and alleviate pain, reserving invasive interventions for severe cases or complications.

Recurrent fibroepithelial vaginal polyp in a 2-year-old girl: a case report and review of the literature.

Introduction and importance: Fibroepithelial vaginal polyps (FEPV) are rare mucosal polypoid lesions primarily found in adult women. However, FEPV in paediatric patients, especially beyond the neonatal period, is exceedingly uncommon. Documenting cases improves diagnosis and management. FEPV can mimic malignancy, posing challenges for interpretation. Early detection, treatment, and follow-up are crucial for optimal outcomes. Case presentation: The authors present the case of a 2-year-old girl with a recurrent FEPV. The patient had a painless, reddish, smooth, soft, rubbery polypoid vaginal mass measuring 2.3 × 1.5 cm. Physical examination revealed no concurrent systemic issues. Surgical excision of the polyps confirmed them as fibroepithelial polyps. Despite previous excisions, the polyps recurred within a month. The patient's postoperative recovery was uneventful, and subsequent follow-up showed no recurrence. Clinical discussion: FEPV presents as mucosal polypoid lesions with a connective tissue core covered by benign squamous epithelium. It is rare before menarche and after menopause. Although the pathophysiology remains unclear, hormonal factors and local injuries may contribute. FEPV is usually asymptomatic but may cause pressure, obstruction, bleeding, or discharge. Differential diagnosis includes vaginal connective tissue malignancies. The diagnosis was confirmed by surgical excision and histopathology. Complete excision is crucial for preventing recurrence. Conclusion: This case report highlights recurrent FEPV in a 2-year-old girl. Despite previous excisions, polyps recurred, emphasizing the need for complete excision. Documenting cases will enhance our understanding. Further research is needed to elucidate the pathogenesis of paediatric FEPV. Early detection, treatment, and follow-up are essential for optimal management.

Vision-related quality of life among patients with keratoconus: a cross sectional study.

Purpose: The present study aimed to evaluate the quality of life of keratoconus patients residing in Nablus city, Palestine. Furthermore, we investigated the possible correlation between Pentacam topographic indices and the quality of life of patients with keratoconus. Methods: This cross-sectional study evaluated keratoconus patients at An-Najah University Hospital in 2019, diagnosed through clinical examination and corneal tomography. A control group was randomly selected from non-keratoconus patients with normal tomography. The NEI-VFQ-25 questionnaire was administered during face-to-face interviews to compare both groups. NEI-VFQ-25 assesses vision-related quality of life and is a validated tool. Results: Keratoconus patients' quality of life is significantly impacted, mainly in near and distant vision, general vision, mental health, and social health, but not in general health, ocular pain, color vision, role difficulties, or dependency. Visual acuity is significantly affected in both eyes of keratoconus patients. Conclusion: Patients with keratoconus exhibit a decreased quality of life related to vision, with physical, emotional, and social impairments demonstrated by the NEI-VFQ-25 when compared to controls. Since keratoconus patients are typically young adults in their productive years, understanding their concerns about their future is an important public health aspect that can aid in modifying their treatments. By addressing the specific needs of this patient population, healthcare providers can better support their long-term well-being and quality of life.

Baseline Subfoveal Choroidal Thickness as a Predictor for Response to Short-Term Intravitreal Bevacizumab Injections in Diabetic Macular Edema.

PURPOSE: This article aims to evaluate how the subfoveal choroidal thickness (SFCT) and best-corrected visual acuity (BCVA) respond to the intravitreal injection of bevacizumab and to assess the correlation between these changes. It will also assess the use of the baseline SFCT as a predictor for BCVA changes in eyes of treatment-naive, diabetic macular edema (DME) patients. METHODS: This retrospective, consecutive case series comprised 59 eyes of 39 treatment-naive DME patients. Complete slit-lamp assessment, swept-source optical coherence tomography (SS-OCT) scans to measure SFCT and BCVA values were performed at two stages: baseline and one month after the third monthly injection of intravitreal bevacizumab. RESULTS: Patients' ages ranged from 46.3 to 76.4 years (mean: 62.6 ± 2.3). The mean SFCT was 318 ± 82 µm at baseline, which decreased after 3 months to 300 ± 66 µm (P-value = 0.021). There was an improvement in the mean of the logMAR best-corrected visual acuity (BCVA) from 0.7 (decimal equivalent: 0.2) to 0.5 (decimal equivalent: 0.3) (P-value = 0.019). There was no association between SFCT changes and BCVA changes (P-value = 0.180). Wilcoxon signed-rank test disclosed that a better BCVA improvement was related to a greater subfoveal choroidal thickness at baseline P-value <0.00. CONCLUSION: Eyes with a higher baseline subfoveal choroidal thickness (SFCT) attained greater BCVA improvement than eyes with a lower baseline SFCT. In addition to this, changes to SFCT do not appear to correlate with BCVA changes. These findings do not support using OCT SFCT changes as a prognostic factor for changes to BCVA after intravitreal bevacizumab treatment in evaluating treatment-naive DME eyes.

Transient Ischemic Attack and Hypoventilation 12 Hours After Intra-vitreal Aflibercept Injection.

Given the role the vascular endothelial growth factor (VEGF) plays in controlling and preserving the integrity of the vascular endothelium intravitreal administration of anti-VEGF agents may affect the risk of thromboembolic events. This is particularly noticeable in patients who are at risk for atherosclerosis. Here, we present one of the first case reports of transient ischemic attack (TIA) together with hypoventilation secondary to aflibercept injection. A 63-year-old female suffered TIA together with hypoventilation about 12 hours after the third administration of intravitreal aflibercept, which is a VEGF inhibitor for diabetic macular edema (DME). Upon presentation, she was confused, had right-sided weakness and her respiratory rate was six breaths per minute, all of these resolved within the next 24 hours. The serum tests, cerebrospinal fluid (CSF) analysis, brain imaging, and carotid Doppler ultrasound were unremarkable. An ophthalmic exam revealed signs of bilateral proliferative diabetic retinopathy with left macular edema. Detailed reports of similar cases are lacking in the literature. Hypoventilation and thromboembolic could be possible side effects of aflibercept that necessitate more investigation.

Use of complementary and alternative therapies by patients with eye diseases: a hospital-based cross-sectional study from Palestine.

BACKGROUND: Generally, complementary and alternative therapies (CAT) are accepted methods of treatment by patients with various types of conditions. Their use is becoming especially prevalent among patients with eye problems even in developed countries. Thus, we aimed to determine the pattern of use of CAT in this patient population, to identify the patient characteristics associated with the use of CAT, and to assess the types of CAT used. METHODS: A descriptive, cross-sectional study was conducted in Palestine at An-Najah National University Hospital between the time periods of October 2019 to May 2020, using questionnaire-based face to face interviews. Data were collected through convenience sampling. Patients responded to the questionnaire, which was focused on information adapted from previous research in this area, covering socio-demographic and clinical characteristics, types of CAT, source of information, and side effects on CAT use. RESULTS: A total of 86 patients were interviewed for our study. Over two thirds, 67% reported using CAT for the specific purpose of improving their eye condition, and about one third (29.1%) received more than one therapy. The most common therapies reported were duea' (i.e. supplication) (47.1%) and herbal therapies (24.1%). It was shown that patients with bilateral involvement of their eyes were almost twice more likely to describe using CAT than patients with unilateral eye pathology (p = 0.006). Also, patients who underwent surgery as their route of treatment were significantly less likely to use CAT (p = 0.043). Most of our study participants mentioned a non-physician source as their source of information regarding CAT with family members being the most frequently mentioned (30.2%) followed by the internet (25.6%) and friends (19.8%). CONCLUSIONS: The prevalence of CAT use among patients with eye disease is somewhat high in our study population. Because CAT may trigger adverse reactions, influence the progression of the disease, and interfere with conventional treatment, the ophthalmologist should frequently be asked patients with such diagnostics regarding the use of these therapies. Further work is required to analyze the mechanisms of action and to establish realistic guidelines for the use of these modalities.

Anatomical and Visual Outcomes of Scleral Buckling Surgery in Rhegmatogenous Retinal Detachment.

PURPOSE: The aim of this study is to evaluate the short anatomical and visual outcomes of scleral buckling surgery in relation to the pattern of presentation of rhegmatogenous retinal detachment (RRD) in the presence of different situations and risk factors. METHODS: A total of 206 eyes of 203 patients who underwent scleral buckling surgery for RRD were evaluated in this retrospective study. Information retrieved included patient demographics, duration of symptoms, and presenting vision, lens status, site of a retinal break, extent of retinal detachment, the involvement of the fellow eye, macular involvement, presence of lattice degeneration, and associated refractive errors. Postoperative retinal reattachment, postoperative visual acuity, the need for further surgical intervention, intraoperative, and postoperative complications were also evaluated. Proportions and percentages were used to analyze data. RESULTS: Primary anatomical reattachment was seen in 172 eyes (83.5%) after the complete resolution of the tamponade used. The mean best-corrected visual acuity improved from 2.81 logarithms of the minimum angle of resolution (LogMar) preoperatively to 1.21 LogMar postoperatively, the most important factors that appeared statistically significantly affecting the anatomic and visual outcome were the duration of macular detachment (P = 0.036), the status of the lens; phakic eyes gave better visual outcome than aphakic and pseudophakic eyes (P < 0.05). CONCLUSION: Scleral buckling procedure showed high structural and visual success rates, improvement of visual acuity was found to correlate well with the shorter duration of macular detachment and pseudophakic eyes. We believe that scleral buckling, when done appropriately in the appropriate cases, gives the maximum visual outcome with the least cost and need for consecutive procedures.

Incidence and risk factors of retinopathy of prematurity in three neonatal intensive care units in Palestine.

BACKGROUND: Severe Retinopathy of Prematurity (ROP) is a serious vasoproliferative disorder that can affect extremely premature infants. It continues to be one of the most important preventable causes of blindness in children. Our study is aimed at finding the incidence of ROP and its association with some risk factors in Palestine. METHODS: From the 1st of January 2016 to 31st December 2016, a total number of 115 infants who met the criteria for ROP screening in three neonatal intensive care units were included in the study. The medical records of infants were reviewed retrospectively and multiple factors that may be associated with the development of ROP were collected manually. RESULTS: The incidence of ROP and severe type 1 ROP that require treatment was 23.5 and 11.3% respectively. After conducting univariate analysis of risk factors, statistically significant risk factors affecting the development of ROP in our study were: low gestational age, low birth weight, type of multiple gestation, the presence of affected sibling, low level of Hemoglobin at birth, respiratory distress syndrome, low Hemoglobin level, blood transfusion and days on oxygen supplements with either mechanical, non-mechanical methods or both combined. High bilirubin levels were found as a protective factor against the development of ROP. However, when a multivariate analysis was performed, only low gestational age, total days on oxygen supplement and high bilirubin levels were significant regarding the development of ROP. CONCLUSION: The incidence of ROP is considered a relatively low percentage compared to neighboring countries that have higher levels of human development index. Statistically significant risk factors need to be considered when clinicians deal with premature infants.

Outcomes of Wavefront-Optimized Laser-Assisted In-Situ Keratomileusis and Photorefractive Keratectomy for correction of Myopia and Myopic Astigmatism over One Year Follow-Up.

BACKGROUND: Laser corneal refractive surgery suits, technology and nomograms are improving with time. This may improve the refractive and visual outcomes of the patients. OBJECTIVES: To evaluate the safety, efficacy, stability, and predictability of wavefront-optimized photorefractive keratectomy and Laser-assisted in-situ keratomileusis in patients with myopia and myopic astigmatism over 1-year using WaveLight® EX500 Excimer Laser machine. METHODS: In this prospective cohort study, refractive and visual outcomes in 596 eyes (365 patients), either having myopia or myopic astigmatism were assessed. Patients were divided into Two groups: 1) Patients who underwent PRK (53 eyes have myopia and 217 eyes have myopic astigmatism), 2) Patients who underwent LASIK (53 eyes have myopia and 273 eyes have myopic astigmatism). RESULTS: At 12 months postoperatively 94.3% of the myopic patients reached their preoperative best corrected distance visual acuity at the final one year follow up visit post PRK and LASIK. In patients with myopic astigmatism who underwent LASIK and PRK, 95.2%, and 96.3% of the patients reached their preoperative best corrected distance visual acuity at the final one year follow up visit post LASIK and PRK, respectively. The efficacy and safety indices were 1.00 or more for all groups with no eye lost any line of best corrected distance visual acuity. CONCLUSION: Our study results confirm the excellent efficacy, safety, good predictability and stability of myopia / myopic astigmatism correction by either wavefront- optimized LASIK or PRK over 1-year follow-up without significant differences between them using the WaveLight® EX500 excimer laser system.

Prevalence of Keratoconus Among a Palestinian Tertiary Student Population.

PURPOSE: To screen for keratoconus and potential associated risk factors in a tertiary student population sample. POPULATION AND METHODS: This cross sectional study included 1234 students attending An-Najah National University (Nablus, West Bank, Palestine), that were randomly selected from a total of 20,000 university students. 634 (51.3%) student participants responded by completing a self-administered questionnaire and were assessed by means of corneal topography. Following initial evaluation, participants were referred for Pentacam evaluation if they demonstrated either a mean keratometry of more than 45 diopters, corneal astigmatism of more than 2 diopters and/or if asymmetric topographic patterns were present. Pentacam images were analyzed by an experienced ophthalmologist based on a number of indices and the participants were classified as normal, keratoconus suspects, and keratoconus patients. RESULTS: A total of 620 participants (mean age, 20.1±1.6 years) were included in this study, 379 (61.1%) were females and 241 (38.9%) were males. Nine subjects were diagnosed with keratoconus, demonstrating a prevalence of 1.5%. 52 (8.4%) participants showed at least one abnormal pentacam index, and were considered as KC suspects. CONCLUSION: Keratoconus is a prevalent disease among the tertiary Palestinian student population. This may be related to a combination of genetic and environmental factors. The results of this study signal the need for public health outreach and intervention for keratoconus.

Anterior segment applications of in vivo confocal microscopy.

PURPOSE: To review the current literature on in vivo confocal microscopy anterior segment applications (cornea, conjunctiva, and glaucoma) and discuss its advantages in different pathological conditions. METHODS: Review of selected relevant literature on in vivo confocal microscopy and its different applications. RESULTS: In vivo confocal microscopy can be used to visualize most layers of the cornea and conjunctiva, providing excellent resolution. In the past, it was mainly utilized as a research tool; lately there seems to be an increasing interest for clinical applications; confocal microscopy aids the diagnosis and follow-up of many anterior segment disorders, such as corneal dystrophies, corneal and conjunctival inflammatory and neoplastic diseases, glaucoma patients, and assessment of surgical procedures. CONCLUSION: In vivo confocal microscopy is an important addition to the ophthalmic diagnostic tools with several anterior segment applications. Its clinical applications are being continuously explored and are quickly expanding to cover many new pathological aspects.

Simultaneous conventional photorefractive keratectomy and corneal collagen cross-linking for pellucid marginal corneal degeneration.

PURPOSE: To present the results after simultaneous conventional photorefractive keratectomy combined with corneal collagen cross-linking for pellucid marginal corneal degeneration. METHODS: In this prospective, interventional case series, 6 patients (8 eyes) with pellucid marginal corneal degeneration were enrolled. All patients underwent simultaneous conventional photorefractive keratectomy combined with corneal collagen cross-linking; corneal epithelium was removed by transepithelial phototherapeutic keratectomy during treatment (Cretan protocol plus conventional photorefractive keratectomy). Visual and refractive outcomes were evaluated along with endothelial cell density preoperatively and at 1, 3, 6, and 12 months postoperatively. RESULTS: No intraoperative or postoperative complications were observed in any of the patients. LogMAR mean uncorrected distance visual acuity improved significantly from 1.05 ± 0.33 preoperatively to 0.41 ± 0.27 (P = .018) at 12 months postoperatively. Mean corrected distance visual acuity did not change significantly (P > .05) postoperatively. Mean spherical equivalent improved significantly from -3.52 ± 2.29 diopters preoperatively to -1.57 ± 1.76 diopters (P = .028) at last follow-up. Mean corneal astigmatism was significantly reduced from -6.83 ± 2.33 diopters preoperatively to -4.71 ± 1.89 diopters (P = .018) at the last follow-up. No endothelial cell density alterations were observed throughout the follow-up period (P > .05). CONCLUSIONS: Simultaneous conventional photorefractive keratectomy combined with corneal collagen cross-linking seems to be an effective, safe, and promising treatment for the management of pellucid marginal corneal degeneration.

Cervical spondylosis: a rare and curable cause of vertebrobasilar insufficiency.

BACKGROUND: Spondylotic vertebral artery (VA) compression is a rare cause of vertebrobasilar insufficiency and stroke. CASE DESCRIPTION: A 53-year-old man experienced multiple brief vertebrobasilar transient ischemic attacks (TIAs) and strokes, not apparently triggered by neck movements. Brain magnetic resonance imaging (MRI) documented consecutive infarcts, first in the left then right medial posterior inferior cerebellar artery (PICA) territories. Angiography showed two extracranial right vertebral artery (VA) stenoses, left VA hypoplasia, absence of left PICA and a dominant right PICA. Computed tomography angiography revealed right VA compression by osteophytes at C5-C6 and C6-C7 levels. No further vertebrobasilar insufficiency symptoms occurred in the 65 months following VA surgical decompression. Our literature review found 49 published surgical cases with vertebrobasilar symptoms caused by cervical spondylosis. Forty cases had one or more brief TIAs frequently triggered by neck movements. Three cases presented with stroke without prior TIA, with symptoms suggesting a top of the basilar artery embolic infarcts (one combined with a PICA infarct). Six cases had both TIAs and minor stroke. VA compression by uncovertebral osteophytes at the C5-C6 level was common. Dynamic angiography done in 38 cases systematically revealed worsening of VA stenosis or complete occlusion with either neck extension or rotation (ipsilateral when specified). Contralateral VA incompetence was found in 14 patients. CONCLUSION: Spondylotic VA stenosis can cause hemodynamic TIAs and watershed strokes, especially when contralateral VA insufficiency is combined to specific neck movements. Low-amplitude neck movement may suffice in severe cases. Embolic vertebrobasilar events are less frequent. VA decompression from spondylosis may prevent recurrent ischemic episodes.

Topography-Based Keratoconus Regression.

PURPOSE: To report 3 cases of keratoconic patients who had progressive corneal topographic flattening during a 2-year follow-up period. METHODS: Case series. RESULTS: Three patients with bilateral keratoconus, each operated for advanced keratoconus in one of their eyes, were observed for possible progression of the disorder for a period of 2 years. During the 2-year follow-up period, topographic examination showed progressive corneal flattening in the nonoperated eye. Mean keratometry decreased in all patients, whereas topography showed significant flattening at the apex of the cone. Best-spectacle-corrected visual acuity increased in one of the patients, whereas the others had stable uncorrected and best-spectacle-corrected visual acuity during the follow-up period. All patients had positive family medical history for diabetes mellitus, but none of them was diabetic. CONCLUSIONS: This is the first report of topography-based keratoconus regression during a 2-year follow-up period.