Search

In this case report, it is aimed to present the clinical findings and treatment of a 9-year-old girl who developed bilateral acute corneal hydrops (ACH) at short intervals. Our patient first presented with ACH findings first the right eye and then 1 month later in her left eye. At first admission, both visual acuities were at very low levels and she had advanced stage keratoconus. The patient had a history of eye rubbing accompanied by mild to moderate allergic conjunctivitis. Corneal cross-linking treatment was planned for the left eye, but it could not be performed due to the rapid development of ACH in the left eye within 1 month. In cases of advanced keratoconus accompanied by eye rubbing in young children, caution should be exercised in case it progresses to bilateral ACH. [ABSTRACT FROM AUTHOR]

Pentasomy X syndrome is a very rare sex chromosome numerical anomaly of unknown frequency. The karyotype consists of 49,XXXXX. Musculoskeletal, craniofacial, cardiac, and kidney anomalies accompany psychomotor developmental delays. This report describes, a 16-month-old girl who presented to the pediatric neurology outpatient clinic with complaints of joint laxity and inability to hold her head upright from the age of 3-4 months. The patient exhibited dysmorphic facial features and hand-foot deformities. Genetic consultation was requested, and cytogenetic examination revealed a 49,XXXXX chromosomal anomaly. The most prominent clinical feature of 49,XXXXX patients with pentasomy is severe hypotonia. This article emphasizes the importance of cytogenetic analysis in the evaluation of hypotonicity. [ABSTRACT FROM AUTHOR]

Complete benign biliary stenosis is a difficult-to-treat condition in which the common endoscopic instruments fail. Surgery is the standard treatment method with high morbidity and mortality rates. The magnetic compression anastomosis (MCA) technique is an emergent procedure allowing endoscopic treatment possible in such patients. While MCA application has not reached a standard yet, herein, we present the treatment of an 8-year-old girl with total biliary obstruction in Roux-en-Y hepaticojejunostomy anastomosis with magnetic compression anastomosis using a pediatric colonoscope. [ABSTRACT FROM AUTHOR]

Vulvovaginitis is a common and challenging gynaecological problem in prepubertal and pubertal girls. Such an infection, owing to a wide range of aetiologies, if not responding to hygienic measures, needs further investigation through vaginal cultures, since treatment should be tailored accordingly. This study aimed to investigate the pathogens isolated in prepubertal and pubertal girls with signs and symptoms of vulvovaginitis. A total of 2314 symptomatic girls, 1094 prepubertal and 1220 pubertal, aged 2 to 16 years, were included. Vaginal samples were inoculated on specific culture plates followed by incubation in aerobic, anaerobic or CO2 atmosphere at 37 °C for 24 or 48 h, as appropriate. The identification of the isolated pathogens was carried out using Gram stain, conventional methods and the automated system VITEK 2 (BioMerieux, Marcy l'Etoile, France). Positive cultures were obtained from 587 (53.7%) of prepubertal girls and 926 (75.9%) of pubertal girls. A total of 613 and 984 pathogens were detected in prepubertal and pubertal subjects, respectively. Isolated bacteria included 40.1% and 22.8% Gram-positive cocci, 35.6% and 24.8% Gram-negative rods in the prepubertal and pubertal groups, respectively, with faecal pathogens being the most prevalent. Bacterial vaginosis was diagnosed in 22.8% of prepubertal and 37.9% of pubertal girls. Candida species were isolated mostly in the pubertal girls (14.5%). Conclusion: Culture results should be evaluated with caution in children with vulvovaginitis. In the prepubertal girls, the most common isolated pathogens were opportunistic bacteria of faecal origin while girls in late puberty were more susceptible to bacterial vaginosis and vulvovaginal candidiasis. What is Known: • Vulvovaginitis is the most frequent and challenging reason for referral to paediatric and adolescent gynaecology services. • Microbiological examination can prove to be a significant tool to help diagnosis although results should be evaluated with caution in children. What is New: • Significantly more positive vaginal cultures and pathogens were recorded in symptomatic pubertal girls compared to prepubertal children. • The prevalence of bacterial vaginosis was increased in both prepubertal and pubertal girls with vulvovaginitis although significantly more in girls at puberty. [ABSTRACT FROM AUTHOR]

Familial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The serum calcium level of a 9.2-year-old girl was 12.4mg/dl in incidental laboratory analysis. On the same occasion, the serum parathyroid hormone (PTH) level was 45 pg/ml, 25(OH) vitamin D level 24.2ng/ml, 1.25 dihydroxy vitamin D level 22pg/ml, and urinary Ca/creatinine ratio <0.01. The ultrasonographic evaluation of the urinary system was unremarkable. The clinical and laboratory findings pointed towards FHD. A heterozygous p.Cys575Tyr (c.1724G>A) variation was detected in the patient's CaSR gene, which was reported before, but no clinical manifestations were specified. In children with asymptomatic hypercalcemia, the diagnosis of FHH should be considered if the PTH level is normal or high and the urinary calcium is low. [ABSTRACT FROM AUTHOR]

The article describes the case of a 2.5-year-old girl diagnosed with primary central nervous system lymphoma (PCNSL), a very rarely diagnosed non-Hodgkin lymphoma in children. Topics discussed include the girl's medical history, clinical characteristics of PCNSL, and confirmation of the necessity of diagnostics in children with PCNSL for congenital immunodeficiency and follow-up of patients with immunity deficits.