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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]

Alport syndrome is a type IV collagen synthesis disorder characterized by hereditary progressive glomerular disease resulting from glomerular basement membrane injury, often accompanied by hearing loss and ocular defects. The most common form is X-linked Alport syndrome, which accounts for 80% of all cases. Although women mainly present with mild urinary symptoms, end-stage renal disease onsets at an early age in men. An 11-year-old girl was admitted to our hospital with mild bifissure oedema for the last 3 months. This study discusses the clinical, morphological and transmission electron microscopic findings of a rare case of Alport syndrome in the context of the wider literature. [ABSTRACT FROM AUTHOR]

Friendships have a central importance in childhood and adolescence, and the friendship demands on girls with autism spectrum disorder (ASD) may be higher than for boys. Few previous studies have examined the experiences of friendship from the perspective of girls with ASD. A qualitative focus group methodology was used with ten adolescent girls with a confirmed diagnosis of ASD. The results indicate the high importance of friendship to the participants, with themes emerging about friendship establishment, how friendships transcend contexts, the experience of conflict in friendships, and friendship loss. The role of social media and mobile phone use on friendships was also examined. The themes that emerged in this study concur with, and elaborate on, the emerging literature on girls with ASD. The risks to friendships of school transitions and weak texting skills both emerged as potential targets for interventions to support girls with ASD during adolescence. [ABSTRACT FROM AUTHOR]

Background: Xia–Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 (AHDC1) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. Methods: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum. On the basis of the current clinical case and the literature review, we also attempt to deepen understanding of behavioural and psychiatric manifestations associated with XGS. Results: In addition to the patient we described, a considerable rate of individuals with XGS display autistic symptoms or have been diagnosed with an autistic spectrum disorder. Moreover, the analysis of the few psychopathological profiles of patients with XGS described in the literature shows a frequent presence of aggressive and self-injurious behaviours that could be either an expression of autistic functioning or an additional symptom of the ASD evolution. A careful investigation of the abovementioned symptoms is therefore required, since they could represent a “red flag” for ASD. [ABSTRACT FROM AUTHOR]

Type 1 diabetes mellitus (T1DM) is a chronic disease that can affect the physical and mental health of children and adolescents, often leading to anxiety disorders with chronic activation of the hypothalamic axis (HPA). Moreover, a great proportion of adolescents with T1DM also demonstrate anorexia nervosa (AN), due to the increased preoccupation with food and the need to have an acceptable body image. Herein is described the first case study of an adolescent patient diagnosed with T1DM, anxiety disorder (AD), and AN. A 14-year-old girl with T1DM since the age of 12 years presented weight loss at age 13 years and 3 months and low body mass index (BMI), which did not improve despite dietary recommendations and adequate disease control. Additionally, she presented menstrual disorders at the age of 12 years and 11 months (menstrual age 12 years and 1 month). A psychological evaluation of the teenager was conducted using a semi-structured interview that assessed perceived stress, health status, quality of life, and depression. AD and AN were diagnosed and the patient initiated an intervention focusing on psychological health and nutrition and which incorporated physiotherapeutic relaxation sessions and breathing exercises. After 3 months of treatment, the patient’s BMI was increased, and a normal menstrual cycle was apparent. These results have since remained consistent. Stress leads to the appearance of AN and menstrual disorders. Therefore, physiotherapeutic programs could reduce stress and effectively ameliorate AN and AD. [ABSTRACT FROM AUTHOR]

For patients too young to be fitted with an expandable prosthesis, limb salvage surgery requires other strategies. The main problems are related to the impossibility of implanting an expandable prosthesis to the residual bone growth that is much too big in relation to the bone size, with the precocious implant loosening and/or the residual absence of bone growth, as well as the problem of limb length and shape difference. In this paper, we report a possible reconstruction solution using a composite prosthesis for an Ewing’s sarcoma of the proximal femur in an infant patient. After resection, a femoral stem was cemented into the distal third of a homoplastic humerus; a carbon fiber plate was used to stabilize the bone/homograft interface. At the one-year follow-up, the patient was free of disease and able to walk with only a slight limp. This case report describes a possible solution for very small patients. An adult humerus is of the right size to replace a child’s lower limb segments, and the distal humerus can be shaped, maintaining a cortex stiff enough to support a prosthesis. Very young patients might obtain a faster osteointegration of the graft than adults, due to their higher biological activity and, in this case, the diapasonal shape of the allograft might also have contributed to accelerated fusion. Moreover, the use of a graft to fit the prosthesis avoids loosening issues due to canal widening, hypothetically providing more growing time before system failure and revision surgery. However, although this technique is promising, further studies are necessary to confirm our findings and to verify if this procedure allows easier future prosthesis implantation. [ABSTRACT FROM AUTHOR]

The diffuse sclerosing variant of papillary thyroid carcinoma (DSPTC) is uncommon. Herein, we report a rare case of DSPTC in a 9-year-old girl who initially presented with a painless diffuse goiter. Thyroid peroxidase antibody testing yielded positive results, and the initial clinical diagnosis was Hashimoto’s thyroiditis. However, thyroid ultrasonography revealed characteristic findings of DSPTC, which was confirmed through the postoperative histopathological diagnosis. Although thyroid cancers are rare in the pediatric population, DSPTC should be included in the differential diagnosis of goiter in these patients. Moreover, ultrasonography may prevent a diagnostic delay and facilitate the detection of a concomitant malignancy. [ABSTRACT FROM AUTHOR]

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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.

We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered to have familial dysautonomia (FD)-like disease due to increased levels of catecholamine metabolites. Functional analyses of F437S-SAMD9 were performed, showing characteristics of disease-causing variants. This new SAMD9 variant (p.F437S) also causes MIRAGE syndrome. [ABSTRACT FROM AUTHOR]

Juvenile granulosa cell tumor (JGCT), classified as a sex cord-stromal tumor, is a rare neoplasm. This is an instructive case report of JGCT accompanied by augmented interleukin (IL)-6 secretion. A 13-yearold girl with prolonged fever and delayed puberty was diagnosed with JGCT of the left ovary based on an imaging study and pathological investigation. Although it was not clear whether IL-6 was secreted from the tumor cells, her serum level of IL-6 was very high. After tumorectomy, the patient's symptoms immediately disappeared, her IL-6 level decreased, and she entered puberty. Therefore, augmented IL-6 secretion production induced by tumors should be considered a potential cause of prolonged fever and/or delayed puberty. [ABSTRACT FROM AUTHOR]

Background: Dystonia is a relatively common feature of spinocerebellar ataxia 3 (SCA3). Childhood onset of SCA3 is rare and typically associated with either relatively large, or homozygous, CAG repeat expansions. Case report: We describe a 10-year-old girl with SCA3, who presented with tongue dystonia in addition to limb dystonia and gait ataxia due to a heterozygous expansion of 84 repeats in ATXN3. Discussion: Diagnosis of the SCAs can be challenging, and even more so in children. Tongue dystonia has not previously been documented in SCA3. [ABSTRACT FROM AUTHOR]

Background: Intrahepatic arterial pseudoaneurysms are a rare, life-threatening complication after pediatric liver transplantation. Treatment of choice represents interventional radiological management with endovascular embolization of the segmental artery proximal and distal to the aneurysm. However, this technique results in loss of arterial perfusion distal to the aneurysm with subsegment arterial ischemia. Case presentation: We report a case of a 1-year-old girl with a pseudoaneurysm in the split-liver graft. Direct percutaneous, transhepatic access to the pseudoaneurysm was performed followed by super selective coil application into the aneurysm. Conclusion: Super selective percutaneous, transhepatic coil application is feasible even in pediatric patients after liver transplantation and results in preservation of the entire course of the liver artery. [ABSTRACT FROM AUTHOR]

We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel DNAH9 variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs]). [ABSTRACT FROM AUTHOR]

Background: Acute exogenous lipoid pneumonia is an extremely rare pathology in children and occurs because of aspiration of oil or lipid-containing material. The presentation and radiological findings vary widely and the exact mechanism of injury to the lungs is not clear. Case Presentation: An 18-month-old girl presented with gradually increasing swelling and subcutaneous emphysema over the chest wall, neck, and face. The investigation revealed pneumomediastinum, pneumorachis, and soft tissue density in the left bronchus. The child underwent rigid bronchoscopy and retrieval of an organic foreign body. Conclusion: Acute exogenous lipoid pneumonia can occur in children because of aspiration of oil-secreting organic foreign body. The presentation can be atypical, clinical suspicion and early diagnosis with timely intervention are crucial for the appropriate management. [ABSTRACT FROM AUTHOR]

Background: Rapunzel syndrome is the rarest form of trichobezoar; a condition in which trichobezoar extends beyond the stomach into the small intestine. It is common among children and young girls with a history of psychiatric illnesses. Case Presentation: A 10-year-old girl without any history of psychiatric illness, presented with abdominal pain and nonbilious vomiting for 6 months. Clinically she had a non-tender upper abdominal mass which, later at workup, was found to be a trichobezoar. She was surgically managed successfully. Conclusion: Though uncommon, Rapunzel syndrome should be kept in the differential diagnoses especially in a young female patient with features of an upper GI obstruction and a non-tender, palpable epigastric mass. [ABSTRACT FROM AUTHOR]

Background: Dermoid cyst accounts for 10-20 % of all ovarian tumors. Traditionally giant ovarian cysts have been removed through a midline laparotomy. Here we report a case of laparoscopy-assisted removal of a giant dermoid cyst in an adolescent girl. Case Presentation: A 17-year-old girl presented with a complaint of abdominal distension for 7 months. Abdominal examination revealed a well-defined tense cystic mass arising from the pelvis and extending up to the epigastric region. CT scan of abdomen and pelvis reported a mature teratoma of size 25.5x19.9x35cm of the right ovary. Laparoscopic excision of the cyst was performed following extracorporeal drainage of the cyst. Conclusion: Laparoscopy-assisted removal of a giant ovarian dermoid cyst is a feasible mode of treatment irrespective of its size provided malignancy has been ruled out. [ABSTRACT FROM AUTHOR]

Background Aneurysmal bone cysts are benign bone lesions affecting long bones and vertebrae; only 2%–6% have cranial involvement, and even fewer show sphenoid or intraorbital involvement. Gross total resection is the treatment of choice. Case Description A 10-month-old girl presented with unilateral proptosis and no neurologic deficits. Imaging studies revealed an extensive right-sided skull base cystic lesion centered on the sphenoid wing with extension into the orbit anteriorly and the pterygoid plates inferiorly. She underwent a modified osteoplastic orbitozygomatic craniotomy for resection of the extradural tumor. Postoperative imaging showed successful decompression of the intraorbital contents with no residual tumor. She remained neurologically intact and was discharged on postoperative day 2. Histologic examination revealed the lesion to be consistent with an aneurysmal bone cyst. At 3-month follow-up, her proptosis had resolved, neurologic examination was nonfocal, and there was no radiographic evidence of recurrence. Conclusions To our knowledge, this is the youngest patient reported to have a spheno-orbital aneurysmal bone cyst. Such lesions in this age group present practical management challenges. By using a modified osteoplastic orbitozygomatic craniotomy, we achieved a gross total resection with minimal brain retraction, avoided the need for plating and suturing at the orbital rim, maintained a vascularized bone flap that is less susceptible to infection, and maintained normal temporalis muscle anatomy with excellent cosmetic results. [ABSTRACT FROM AUTHOR]

Localized scleroderma, also known as morphea, is a rare condition characterized by progressive sclerosis of the skin and associated atrophy of the underlying tissues. The linear type of localized scleroderma is the most frequent form in childhood, usually affecting unilateral extremities. Fibrosclerosis of the fasciae and muscles can spread across joints and impair the range of motion of the joint. Dysplastic and/or atrophic bones of the affected lower extremity can lead to clinically significant leg length discrepancy (LLD). Limb reconstruction surgery has rarely been indicated for LLD in patients with linear morphea. We report on a case of extensive bone lengthening for appreciable LLD in a pediatric patient with linear morphea. A Japanese girl with linear morphea underwent staged simultaneous lengthening of the femur and tibia twice at seven and eleven years of age using a unilateral external fixator. A healing index exceeded 100 days/cm except for the first femoral lengthening that was complicated by regenerate fracture. At the final follow-up, LLD of 38 mm remained, but she could walk independently without a brace or a crutch. Due to soft tissue tightness and poor regenerative ability in the affected limb, cautions should be taken to prevent regenerate fracture and/or malalignment of the limb. [ABSTRACT FROM AUTHOR]

Bronchogenic cysts are rare, congenital cysts originating from respiratory epithelium and typically found within the chest. Cutaneous bronchogenic cysts are exceedingly uncommon, with only 19 reported cases in the scapular region and almost exclusively occurring in male patients. Herein, we present the case of a female patient with recurrent cellulitis secondary to a bronchogenic cyst, which was diagnosed after surgical excision. We also provide a review of the literature to consolidate the current understanding of cutaneous scapular bronchogenic cysts. To our knowledge, this is the first such case reported from Canada. [ABSTRACT FROM AUTHOR]

Abstract Background Autism is a neurodevelopmental disorder with various clinical presentations. It has been historically considered a male disorder. An increasing number of authors stress the existence of sex/gender bias in prevalence and the need to define sex/gender differences in the clinical presentation. Review Recently, an increasing number of authors have studied the impact of sex/gender on autism's clinical presentation. The sex ratio of four boys to one girl commonly reported in literature is questioned. Sociocultural and familial influences can impact female clinical presentation as well as the way the difficulties of girls with autism are perceived. Issues of autism diagnostic instruments such as sex/gender bias are also studied since they have an impact on the access to diagnosis for girls. Clinical variability is a part of autism spectrum disorder, but some traits appear to be more specific of the female phenotype: existence of a “camouflage” phenomenon and less unusual play or restricted interests. Discussion Better understanding and diagnosis of females with autism is required to ensure the access to the support and treatment they need. Professionals must apprehend the sex/gender clinical differences to prevent the frequent misdiagnosis or missed diagnosis of females with autism. Conclusion Pursuing research on sex/gender differences seems necessary to ensure appropriate support and diagnosis of undiagnosed females. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Pericarditis is a known complication of mesalazine in the treatment of ulcerative colitis. This case study illustrates that after diagnostic work‐up, pericarditis should not always be attributed to the use of mesalazine. It may be the presentation of an extra‐intestinal manifestation of ulcerative colitis. Restarting of mesalazine should be considered. [ABSTRACT FROM AUTHOR]

Purpose: The aim was to describe the first experience with fertility preservation by cryopreservation of ovarian tissue (OTC) in pre-pubertal girls with galactosemia and further to characterize ovarian follicular morphology and expression of proteins important for ovarian function.Methods: Retrospectively, follicle density was estimated in ovarian cortical tissues from 6 pre-pubertal girls below the age of 12 years diagnosed with galactosemia and from 31 girls below the age of 18 years who had one ovary removed for fertility preservation for other reasons prior to gonadotoxic treatment. Additionally, expression of 4 glycoproteins important for follicle development were analyzed with immunohistochemistry in two galactosemic ovaries (aged 0.9 and 1.7 years) and compared to normal age-matched controls. The proteins included were: anti-Müllerian hormone (AMH) pro-mature and C-terminal, growth differentiation factor-9 (GDF-9), bone morphogenetic protein 15 (BMP-15), and pregnancy-associated plasma protein A (PAPP-A).Results: Girls with galactosemia below the age of 5 years presented with morphological normal follicles and follicle densities within the 95% confidence interval (CI) of controls. No follicles were detected in the ovary from an 11.7-year-old girl with galactosemia. Expression of AMH, GDF-9, BMP-15, and PAPP-A appeared similar in follicles from girls with galactosemia and controls.Conclusions: These findings suggest that young girls with galactosemia maintain follicles in early childhood and fertility cryopreservation may be considered an option in this patient group. The pathophysiology of galactosemia leading to an accelerated follicle loss is unknown and it is currently unknown to what extent transplanted ovarian tissue can sustain fertility in adult life. [ABSTRACT FROM AUTHOR]

Vertical patellar dislocations (VPDs) are a rare event, and even more so among pediatric female patients. There have been less than 30 vertical patellar dislocations reported in the literature since the first in 1844. In this type of dislocation, the patella rotates about its vertical axis with the articular surface facing either medially or laterally. The mechanism of injury for a VPD can be broadly divided into two themes: a twisting injury or direct impact to the medial or lateral edge of the patella. We present a 10-year-old girl with a VPD after experiencing a twisting injury when descending a playground slide. The purpose of this study is to present a case report and review of the literature on vertical patella dislocations, including mechanisms of injury and suggested methods of treatment. We aim to provide a comprehensive understanding of the various categories of patella dislocations to alleviate confusion when classifying patellar dislocations. Furthermore, we provide clear suggestions for reduction methods and techniques with regards to vertical patellar dislocations, including a suggested protocol for an irreducible patella. [ABSTRACT FROM AUTHOR]

The aim of this article is to explore the basic mental mechanisms operative during and after trauma. To facilitate this exploration, details from the therapy of two traumatized are presented. These cases demonstrate concretely how a traumatic process is set in motion by overwhelming of the usual protective filtering mechanisms of the mind. This happens when too much that is too upsetting and too unexpected is experienced too quickly. Being unable to process the incoming stimulation in the usual ways, many higher level mental functions, such as integration, differentiation, abstraction, thought, and symbolic processes are shut down. This shut down interferes with the formation of regular long term memories. Instead what is left in the aftermath of trauma are unintegrated bits and pieces of perception, feeling, and action intention which act much more as a present experience or future expectation than as a regular memory. This particular form of mental functioning that follows upon trauma I have conceptualized as the zero process. Clinical aspects of the two cases are used to illustrate characteristics of zero process memories. Triggering of repetitive reliving, and the formation of conversion symptoms based on concrete zero process body memories from the trauma are discussed and illustrated by clinical material. [ABSTRACT FROM AUTHOR]

Turner syndrome (TS) is a genetic disorder, affecting 1/2500 to 1/3000 live female births, induced by partial or total deletion of one X chromosome. The neurocognitive profile of girls with TS is characterized by a normal Verbal IQ and weaknesses in visual-spatial, mathematics, and social cognitive domains. Executive functions (EFs) impairments have also been reported in these young patients. However, methodological differences across studies do not allow determination of which EFs are impaired and what is the magnitude of these impairments. The aim of this review was to clarify the EF profile of children and adolescents with TS. Sixteen samples, from thirteen studies, were included in the current meta-analysis. EFs measures used in these studies were classified into working memory, inhibitory control, cognitive flexibility, or higher-order EFs tasks in accordance with Diamond’s model, Annual Review of Psychology, 64, 135-168 (2013). Results confirmed that girls with TS had significant executive impairments with effect sizes varying from small (inhibitory control) to medium (cognitive flexibility) and large (working memory, higher-order EFs). Analyses by task revealed that cognitive inhibition may be more impaired than the other inhibitory control abilities. Heterogeneity across cognitive flexibility measures was also highlighted. Between-sample heterogeneity was observed for three tasks and the impact of participants’ characteristics on EFs was discussed. This meta-analysis confirms the necessity to assess, in patients living with TS, each EF by combining both visual and verbal tasks. Results also underline that, when studying girls with TS’ executive profile, it is important to explore the impact of moderator variables, such as IQ, parental socio-economic status, TS karyotype, psychiatric comorbidities, and hormonal treatment status. [ABSTRACT FROM AUTHOR]

Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disease characterized by fever and lymphadenopathy. The etiology of KFD is unknown, but an autoimmune cause has been suggested. Hashimoto thyroiditis is the most common autoimmune thyroid disorder in children and is known to be associated with other autoimmune diseases. Only a few cases of Hashimoto thyroiditis associated with KFD have been documented. We report a case of a 16-year-old girl who was first diagnosed with KFD and developed Hashimoto thyroiditis 2 years and 6 months later during her follow-up period. Physicians of patients with KFD should consider the possibility of autoimmune diseases like Hashimoto's thyroiditis. [ABSTRACT FROM AUTHOR]

Objective: To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome.Design: Descriptive study.Setting: Tertiary-care medical genetics center.Patients: Girls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical Rett syndrome were classified into two groups. Group I consisted of girls with Classical and atypical Rett syndrome on basis on the Revised Rett Syndrome diagnostic criteria, 2010. Group II included girls with neuroregression and postnatal microcephaly and other Rett like features but not fulfilling the above criteria.Procedure: Sanger sequencing of coding regions and large deletional analysis of MECP2 gene.Outcome measure: Identification of mutation in MECP2 gene.Result: Mutation in MECP2 gene was identified in 74% (14/19) in group I and none (0/17) in group II. The mutation detection rate was 93% (13/14) in group I classical Rett syndrome girls (2 with large deletions identified with Multiplex ligation dependent probe amplification) and 20% (1/5) in group I atypical Rett syndrome girls. One novel MECP2 sequence variation was identified in group I classical Rett syndrome.Conclusion: The yield of the mutation detection in MECP2 is higher in classical Rett syndrome. In girls with some Rett like features, but not fulfilling revised Rett syndrome diagnostic criteria, mutation testing for MECP2 gene has a low yield. [ABSTRACT FROM AUTHOR]

Background: Despite demonstrated effectiveness in real-world settings, concerns persist regarding the safety of the quadrivalent human papillomavirus (HPV4) vaccine. We sought to assess the risk of autoimmune disorders following HPV4 vaccination among grade 8 girls eligible for Ontario's school-based HPV vaccination program.Methods: We undertook a population-based retrospective cohort study using Ontario's administrative health and vaccination databases from 2007 to 2013. The self-controlled case series method was used to compare the rate of a composite end point of autoimmune disorders diagnosed during days 7-60 post-vaccination ("exposed" follow-up) to that at any other time ("unexposed"). The analysis was repeated to assess the effect of a history of immune-mediated diseases and time since vaccination. We also conducted an exploratory analysis of individual autoimmune disorders. Rate ratios and 95% confidence intervals (CIs) were estimated using conditional Poisson regression, adjusted for age, seasonality, concomitant vaccinations and infections.Results: The study cohort consisted of 290 939 girls aged 12-17 years who were eligible for vaccination between 2007 and 2013. There was no significant risk for developing an autoimmune disorder following HPV4 vaccination (n = 681; rate ratio 1.12, 95% CI 0.85-1.47), and the association was unchanged by a history of immune-mediated disorders and time since vaccination. Exploratory analyses of individual autoimmune disorders found no significant risks, including for Bell palsy (n = 65; rate ratio 1.73, 95% CI 0.77-3.89), optic neuritis (n = 67; rate ratio 1.57, 95% CI 0.74-3.33) and Graves disease (n = 47; rate ratio 1.55, 95% CI 0.92-2.63).Interpretation: We did not observe an increased risk of autoimmune disorders following HPV4 vaccination among teenaged girls. These findings should reassure parents and health care providers. [ABSTRACT FROM AUTHOR]

Fibrocalculous pancreatic diabetes (FCPD) is a type of chronic calcific non-alcoholic pancreatitis. This type is reported mostly in the developing tropical and subtropical countries. Definite diagnosis of FCPD requires younger age of onset, history of malnutrition, and presence of diabetes mellitus along with extensive pancreatic calcification and ductal calculi. Pain abdomen is one of the classical clinical triad of the disease with steatorrhoea and diabetes. In this case report we are presenting a case of 17 years old girl with past history of recurrent pain abdomen for last two years. She came to casualty with complaints of generalized weakness along with pain abdomen. She was diagnosed as case of FCPD with uncontrolled hyperglycemia on subsequent investigations. Importance of this case is that patient has multiple episode of abdominal pain over two years and she consulted several practitioners for the same and she was treated symptomatically without proper work-up. However, FCPD is a rare entity but should be considered in case of recurrent abdominal pain in young patient. [ABSTRACT FROM AUTHOR]

Bilateral agenesis of the cruciate ligaments is a rare congenital anomaly. We report a unique case of a young girl who had congenital short femur and diagnosed with polyarticular juvenile idiopathic arthritis (JIA) and later discovered to have congenital absence of both anterior and posterior cruciate ligaments and meniscal dysplasia in both the knees when MRI was performed at 11 years of age. The MRI was performed to evaluate knee laxity and persistent symptoms despite medical management and multiple steroid injections for arthritis treatment. This patient is one of the youngest with congenital absence of both the cruciate ligaments to be treated with ACL reconstruction. We highlight the unique radiographic imaging manifestations of congenital cruciate ligament agenesis and emphasize the role of MRI to confirm and depict additional intraarticular abnormalities. [ABSTRACT FROM AUTHOR]

A teenage girl was evaluated for recurrent right pneumonia. The evaluation revealed a calcified mediastinal mass that compressed the right intermediate and middle lobar bronchi, as well as the right pulmonary artery and veins. The clinical picture together with imaging studies and borderline positive serology testing suggested a diagnosis of fibrosing mediastinitis associated with histoplasmosis. This rare condition is characterized by the local proliferation of invasive fibrous tissue within the mediastinum due to a hyperimmune reaction to Histoplasma capsulatum. Antifungal and anti-inflammatory therapies are usually ineffective, and surgical intervention contains a high morbidity risk. Palliative surgery and stenting of the compressed airway have been suggested. In the past, the prognosis was thought to be poor, but recent studies demonstrate a more positive outcome. Our patient had been radiologically and functionally stable under follow-up for over thirteen years and has married and delivered two healthy children, both following an uneventful pregnancy. [ABSTRACT FROM AUTHOR]

Girls with attention deficit hyperactivity disorder (ADHD) are at high risk of a range of social–emotional difficulties, including peer rejection, suicide attempts, and borderline personality disorder (BPD), which are associated with serious, long-term impairment and have not emerged as clearly in samples of boys with ADHD. BPD is a particularly concerning long-term outcome of ADHD in girls, given the high risk for suicidality and long-lasting relationship difficulties. Very little research has focused on treatment for the interpersonal impairments of girls with ADHD, or on addressing risk for developing BPD. This case study describes the use of behavioral parent training (BPT) with adjunctive social skills training (SST) to address the social–emotional difficulties of a 9-year-old girl, “Violet,” who was diagnosed with ADHD Combined Presentation and was being treated with medication for anxiety. Violet presented with many social difficulties, including low self-esteem, emotional dysregulation, and unstable relationships, which were conceptualized as borderline personality features (BPF). Treatment was associated with improvements in parent functioning, including reductions in caregiver strain and inconsistent discipline, as well as improvements in child functioning, including reductions in ADHD symptoms, a range of impairments, and BPF. This case study illustrates the benefit of a brief psychosocial intervention in reducing multiple indices of interpersonal impairment, including BPF, for a girl with ADHD. [ABSTRACT FROM AUTHOR]

CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia. CAPOS syndrome should be considered in the differential diagnosis of acquired childhood deafness, prompting clinicians to search for associated neurological features. [ABSTRACT FROM AUTHOR]

There is a dearth of research regarding the association of child and parent traits to the use of unhealthy weight control behaviors among minority girls with obesity. This study examined the moderating effects of mothers' and daughters' acculturation in the relation of parenting strategies (setting limits, monitoring and discipline) to unhealthy weight control behaviors in Hispanic girls with obesity. Participants included 148 Hispanic mother-daughter dyads (Mage = 39.1, SD = 6.4 years; Mage = 11.3, SD = 1.5 years, respectively). Two-thirds of the mothers were born in Mexico and 46% of them reported low levels of acculturation. In contrast, almost all daughters (90%) were born in the United States and reported high levels of acculturation. Participants were recruited through school nurses and social agencies community coordinators. Mothers and daughters completed surveys on demographic, acculturation, unhealthy weight control behaviors (daughters only) and parenting strategies (mothers only), and had their height, weight, and adiposity assessed. Results from a hierarchical regression analysis revealed that daughters' acculturation, but not mothers' acculturation, moderated the relation of parenting limit setting to daughters' reported engagement in unhealthy weight control behaviors (β = 1.12, p = 0.007). That is, mothers who used more limit setting were less likely to have daughters engaging in unhealthy weight control behavior and this association was stronger among low acculturated girls than among their highly acculturated counterparts. Future research should assess cultural influences and parenting practices in a sample of Hispanic mothers and their adolescent daughters of varied weight statuses and acculturation levels. [ABSTRACT FROM AUTHOR]

Hemangiomas are benign, slow-growing tumors composed of sinusoidal blood vessels. Skeletal hemangiomas are uncommon and are mostly vertebral, followed by cranial in location. Cranial hemangiomas are very rarely encountered in children. Authors report a 12-year girl who presented with a painless enlarging mass over the parietal scalp for 3 months. Imaging revealed a left parietal intraosseous lytic mass with a sunburst appearance. Enbloc removal and cranioplasty was performed, and histopathology was suggestive of hemangioma. We reviewed the literature on pediatric cranial intraosseous hemangiomas (PCIH) (age ≤18 years) by searching online database. Including ours, a total of 24 cases were analyzed. Mean age was 10.2 years (range 4 months-17 years). Eight were in the first decade and 16 were in the second decade. Male:female ratio was 12:12 (1:1). A painless palpable mass was the commonest presenting feature. Parietal and frontal bones were most commonly involved. Intracranial extension was noted in cases. Mean size of the lesion was 5 cm (range 1-12 cm). Twenty-two underwent primary surgical removal while two had additional pre-operative embolization. Surgical procedures were craniectomy alone (n-3), craniectomy + cranioplasty (n-6), tumor excision + remodeling (n-3), and tumor debulking (n-2). Histopathology was cavernous type in majority of cases. Mean follow-up duration was 11.8 months (range 2-38 months). There were no recurrences. One patient died due to systemic infection. Ours is the first review exclusively on PCIH. Although rare, they need to be considered in the differential diagnosis of lytic skull lesions in children. Enbloc removal with cranioplasty is the preferred treatment in vault hemangiomas, while embolization followed by debulking would suffice in large cranial base lesions. [ABSTRACT FROM AUTHOR]

Abstract: Tuberculosis (TB) infection is the endemic in Asia‐Pacific region. Miliary TB is a disseminated form which may present similarly as autoimmune conditions. Here we describe a 17‐year‐old girl who had miliary TB with manifestations mimicking new‐onset systemic lupus erythematosus (SLE) including oral ulcers, serositis, cytopenia, proteinuria and raised autoantibody titers. Complex associations between SLE and TB are highlighted. High index of clinical suspicion for TB infection is needed upon presentations resembling immune diseases like SLE. [ABSTRACT FROM AUTHOR]

Vitamin D deficiency has been associated with several pathologies in humans and has recently been linked to idiopathic central precocious puberty in girls. We evaluated this potential link in a retrospective study. Among 493 girls with idiopathic central precocious puberty previously described, we selected 145 girls for whom a plasma sample at the initial evaluation was available to determine the concentration of 25OHD and 1,25(OH)2D. We analyzed the correlation between different puberty characteristics (BMI, growth rate the year before the onset of puberty, bone age, LH and FSH peaks, LH/FSH peak ratio, and estradiol concentration) and the concentration of 25OHD and 1,25(OH)2D. The mean 25OHD serum concentration was 27.6±17.3 ng/mL. Eleven percent of the patients had a severe vitamin D deficiency, 18.6% had a moderate deficiency, 39.4% had an optimal vitamin D status, and 31% had a 25OHD concentration above 30 ng/mL. Season was the only factor that appeared to influence the 25OHD concentration. No correlation was found between 25OHD serum concentration and different puberty characteristics.Conclusion: Overall, our patients had a satisfactory vitamin D status. We did not find any correlation between vitamin D status and the characteristics of central precocious puberty. Further studies are required to confirm this hypothesis. What is known: • Vitamin D status seems to affect gonadal hormones and fertility. • Vitamin D deficiency may contribute to earlier puberty and was associated with earlier menarche. What is new: • 25OHD of 145 girls with precocious puberty was similar to or higher than that of healthy French children or adolescents. • We did not find any correlation between vitamin D status and puberty characteristics. [ABSTRACT FROM AUTHOR]

The aim of the research was to analyze postural deviations in Romberg's Test in girls with idiopathic scoliosis and scoliotic posture. 28 girls aged 7-18 years old were involved in the study. Spine research was made by Exhibeon digital radiography. Based on the size of the angle of spinal curvature there were identified scoliotic posture: 1-9° and scoliosis: ≥ 10°. Postural reactions were examined by static-dynamic Tecnobody's ST 310 Plus Stability System platform. There were 21 (75%) children with scoliotic posture and 7 (25%) with idiopathic scoliosis. Postural reaction of FBSD was from 6.57 with opened eyes (OE) to 7.32 with closed eyes (CE). Postural reaction of MLSD was from 3.89 with opened eyes (OE) to 5.54 with closed eyes (CE). Postural reaction of AFBS was from 11.96 with opened eyes (OE) to 17.29 with closed eyes (CE). Postural reaction of AMLS was from 9.96 with opened eyes (OE) to 13.89 with closed eyes (CE). Analysis of variance with dual classification revealed a significant effect in Romberg's Test options (OE/CE) to: Average COP X (p = 0.002264), Average COP Y (p = 0.000009), Perimeter (p = 0.000008), Ellipse Area (p = 0.029882), Medium- Lateral Standard Deviation X (p = 0.022162), Average Forward- Backward Speed Y (p = 0.000071) and Average Medium-Lateral Speed X (p = 0.000916). In the examination with eyes closed it has been observed a significant increase of this variances. There was no significant effects only in Forward-Backward Standard Deviation Y. Most of postural deviations did not fit the norm. [ABSTRACT FROM AUTHOR]

Background: Ogden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over 20 children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias.Patient Description: We describe a 14-year-old girl who presented in infancy with hypotonia, global developmental delay, and dysmorphic features. She later developed autism spectrum disorder, epileptic encephalopathy, extrapyramidal signs, early morning lethargy with hypersomnolence, and hypertension with left ventricular hypertrophy. Magnetic resonance imaging showed a thin corpus callosum and progressive white matter loss. Whole exome sequencing identified a de novo pathogenic variant in the NAA10 gene (c.247C>T, p.R83C). Much of her early presentation was in keeping with what has been previously described with Ogden syndrome.Conclusions: We have identified additional evolving neurological impairments in this, to date, oldest documented girl with Ogden syndrome. We recommend screening patients with Ogden syndrome for these newly identified features of early life trajectories to guide management. [ABSTRACT FROM AUTHOR]

Autosomal dominant osteopetrosis (Albers-Schönberg disease) classically displays the radiographic signs of osteosclerosis. The main ADO complications involve the skeleton: low-impact bone fractures, scoliosis and hip osteoarthritis. Management of osteopetrosis-related orthopedic problems is a surgical challenge due to increased bone density. The healing process is very slow in these patients because of bone remodeling defects related to osteoblast function failure. In case of bone deformities, a realignment method should be appropriated to osteopetrosis conditions. This article presents a case report of operative treatment of an 11-year-old girl affected with ADO, who underwent a simultaneous valgus knee deformity correction of both limbs with medial eight-plate epiphysiodesis. Simultaneous correction of valgus deformity on both limbs using an extraperiosteal tension plate technique for medial tibial hemiepiphysiodesis was performed in a girl of 11.5 years old with autosomal dominant osteopetrosis. The treatment duration from surgery to complete deformity correction and removal of plates was 18 months. The final aMPTA was 86° on the right side and 85° on the left side. The correction rate was 0.61°/month (right tibia) and 0.67°/month (left tibia). The MAD correction rate was evaluated as 1.5 mm/month for the right limb and 1.6 mm/month for the left limb. At the moment of plate removal, one screw was broken because of tight fixation in osteopetrotic bone. But it did not compromise the final result. The latest follow-up visit at the age of 14 years 6 months revealed excellent realignment without any deformity relapse. There was no any functional impairment. We consider the guided growth by tension band technique as very interesting and promising solution for treatment of pediatric angular deformity in patients with OP. This method allows to avoid osteotomy and related important risk of delayed union or nonunion frequently observed in osteopetrosis. Level of evidence: Level IV. [ABSTRACT FROM AUTHOR]

A characteristic feature of Rett syndrome (RTT) is abnormal breathing accompanied by several other neurological and cognitive disorders. Since RTT rodent models became available, studies have begun shedding insight into the breathing abnormalities at behavioral, cellular and molecular levels. Defects are found in several groups of brainstem neurons involved in respiratory control, and potential neural mechanisms have been suggested. The findings in animal models are helpful in therapeutic strategies for people with RTT with respect to lowering sudden and unexpected death, preventing secondary developmental consequences, and improving the quality of lives. [ABSTRACT FROM AUTHOR]

Background: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. Case presentation: We report a 5-year-old girl with the typical phenotype of WAGR syndrome. She showed profound delays in physical growth, motor and cognitive development without signs of obesity. Array comparative genome hybridization (CGH) revealed that she carried a 14.4 Mb deletion at 11p14.3p12, encompassing the WT1, PAX6 and BDNF genes. She experienced recurrent hypoglycemic episodes at 5 years of age. Insulin tolerance and hormonal loading tests showed normal hypothalamic responses to the hypoglycemic condition and other stimulations. Methylation analysis for freshly prepared DNA from peripheral lymphocytes using the pyro-sequencing-based system showed normal patterns of methylation at known imprinting control regions. Conclusions: Children with WAGR syndrome may manifest profound delay in postnatal growth through unknown mechanisms. Epigenetic factors and growth-associated genes in WAGR syndrome remain to be characterized. [ABSTRACT FROM AUTHOR]

Langerhans cell histiocytosis (LCH) is an abnormal proliferation of Langerhans cells in one or more organs; bone is the most frequently involved organ in which the skull is the most frequent. The clavicle is rarely the primary site of the LCH, thereby the timely diagnosis is often delayed and most of the patients are primarily treated for acute or chronic osteomyelitis. Herein we report a 10 years old girl with swelling and pain in the medial end of the left clavicle admitted in Aliasghar Children's Hospital in 2015 and final diagnosis of the LCH which was initially misdiagnosed as osteomyelitis. The LCH should be considered in the differential diagnosis of any lytic or destructive lesion of the clavicle for timely diagnosis and prevention of inappropriate treatment. Clavicle; Histiocytosis, Langerhans cell histiocytosis, Osteomyelitis, Pediatrics. [ABSTRACT FROM AUTHOR]