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.

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.