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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]

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]

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]

We report the case of a 12-year-old female patient with a history of four syncopal episodes related to exercise over 2 years and who showed prominent QTc prolongation on electrocardiogram; therefore, she was clinically diagnosed with long QT syndrome type-1. However, genetic analysis did not identify any LQT-related genes but showed a rare missense variant in the cardiac ryanodine receptor gene. From the results of drug-loading tests, administration of oral propranolol was initiated; thereafter, she experienced no syncopal episodes. This is a case report demonstrating the 'overlapping clinical features' of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. [ABSTRACT FROM AUTHOR]

Bilateral nasal obstruction due to simultaneous bilateral dacrocystocoeles is a rare and potentially life threatening condition. We present a five day old girl with this condition who presented with respiratory distress without any eye signs or symptoms associated with dacryocystocoeles. She was successfully managed with surgery and the clinical and radiological features of this condition are presented here with a review of the literature. [ABSTRACT FROM AUTHOR]

To investigate the underlying mechanisms of low metabolic activity of primary chondrocytes obtained from girls with adolescent idiopathic scoliosis (AIS); AIS is a spine-deforming disease that often occurs in girls. AIS is associated with a lower bone mass than that of healthy individuals and osteopenia. Leptin was shown to play an important role in bone growth. It can also regulate the function of chondrocytes. Changes in leptin and Ob-R levels in AIS patients have been reported in several studies. The underlying mechanisms between the dysfunction of peripheral leptin signaling and abnormal chondrocytes remain unclear; The following parameters were evaluated in AIS patients and the control groups: total serum leptin levels; Ob-R expression in the plasma membrane of primary chondrocytes; JAK2 and STAT3 phosphorylation status. Then, we inhibited the lysosome and proteasome and knocked down clathrin heavy chain (CHC) expression in primary chondrocytes isolated from girls with AIS and evaluated Ob-R expression. We investigated the effects of leptin combined with a lysosome inhibitor or CHC knockdown in primary chondrocytes obtained from AIS patients; Compared with the controls, AIS patients showed similar total serum leptin levels, reduced JAK2 and STAT3 phosphorylation, and decreased cartilage matrix synthesis in the facet joint. Lower metabolic activity and lower membrane expression of Ob-R were observed in primary chondrocytes from the AIS group than in the controls. Lysosome inhibition increased the total Ob-R content but had no effect on the membrane expression of Ob-R or leptin's effects on AIS primary chondrocytes. CHC knockdown upregulated the membrane Ob-R levels and enhanced leptin's effects on AIS primary chondrocytes; The underlying mechanism of chondrocytes that are hyposensitive to leptin in some girls with AIS is low plasma membrane Ob-R expression that results from an imbalance between the rate of receptor endocytosis and the insertion of newly synthesized receptors into the membrane. [ABSTRACT FROM AUTHOR]

The article discusses the case of a 14-year-old girl with anti-N-methyl-D-aspartate antibodies-receptor (NMDAR) encephalitis. Topics include the treatment given to the girl while in the hospital, seizures as a common presentation in an anti-NMDA encephalitis, and the presence of extreme delta brushes (EDP) in the electroencephalogram (EEG) of individuals with anti-NMDA encephalitis.

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition that commonly affects the clavicle and pelvis. Case presentation: We report here a case a 12 years old girl with CRMO arising with recurrent episodes of left supraorbital headache, followed by the appearance of a periorbital dyschromia. Magnetic resonance imaging (MRI) of the skull and orbits revealed an important subacute inflammatory process. Few months after, the child presented a painful swelling of the left clavicle; the histological examination of the related biopsy allowed to establish the diagnosis of CRMO. Conclusion: CRMO presenting as acute headache involving neurocranium is rare; to our knowledge this is the first recognized case in the world literature. This pathological condition is frequently misdiagnosed as infection or neoplasm and needs a deep investigation for the differential diagnosis. The physical, laboratoristic and instrumental diagnostic investigations of the patient and the treatment employed are described in detail. [ABSTRACT FROM AUTHOR]

Peutz-Jeghers syndrome (PJS) is a rare disease characterized by intestinal polyposis and mucocutaneous pigmentation. Central nervous system manifestations of this disease are not yet fully known. A 14-year-old girl with PJS visited clinic after experiencing the first unprovoked seizure. She experienced impairment of consciousness after an epigastric sensation followed by a generalized seizure for about 2 minutes. She had undergone small bowel segment resection because of the small bowel intussusception caused by small intestinal polyposis at the age of 5. She was diagnosed with PJS on the basis of presence of melanoic pigmented lip and multiple hamartomatous polyps in gastrointestinal tracts. The electroencephalography showed occasional sharp wave discharges on the right temporo-parietal areas. After her second seizure, she was diagnosed with focal epilepsy and began to receive anticonvulsants. With anticonvulsants, her seizures had been controlled for 3 years. However, when the anticonvulsants were discontinued, her seizures recurred after 6 months and persisted. The brain magnetic resonance imaging showed asymmetrical atrophy of the right hippocampus. The final diagnosis was the mesial temporal lobe epilepsy with right hippocampal sclerosis. Currently, seizures are not controlled completely with anticonvulsants, and surgical treatment is being taken into consideration. Mesial temporal lobe epilepsy might be considered one of central nervous system manifestations in PJS. [ABSTRACT FROM AUTHOR]

The article describes the case of a young girl with Class I, deep bite malocclusion after Herbst Appliance Therapy who underwent Biobloc Orthotropic treatment. Panoramic radiograph showed a late eruption pattern and the patient was motivated to undergo treatment. The patient was diagnosed with convex facial profile with an obtuse nasolabial angle of 130 degrees. Treatment objectives, treatment plans, and patient progress are then mentioned.

Turner's syndrome is a common genetic disorder of girls and women, for which characteristic clinical symptoms encompass short stature, gonadal dysgenesis, systemic defects, multiple dysmorphic features and skin changes, including an increased number of melanocytic nevi, hypertrophic scars and keloids. The affected girls are treated with recombinant human growth hormone to improve the height. We present a case of a 15-year-old girl with Turner's syndrome, hypertrophic scars and a keloid. At the age of 12 years and 8 months, the girl started recombinant human growth hormone treatment. During the therapy, a surgical excision of 4 out of 42 benign melanocytic nevi was performed. After 2 months the hypertrophic scars as well as a keloid were noted at sites of excision. Parents of girls with Turner's syndrome undertake various attempts to improve not only the height and maturity of their daughters, but also their appearance by commonly performed surgical corrections of the webbed neck and pigmented nevi. The presented case suggests an increased risk of scars hypertrophy and keloid formations after surgical intervention in Turner's syndrome patients who are treated with recombinant human growth hormone at the same time. Due to that it should be advised to postpone all planned surgical procedures until the therapy has been completed. [ABSTRACT FROM AUTHOR]

Objective: To describe gonadal dysfunction and evaluate polycystic ovary syndrome (PCOS) and its association with metabolic syndrome (MeS) among girls in a morbidly obese adolescent population. Design: In a cross-sectional study of 174 girls, height, weight, waist circumference, Tanner stage, reproductive hormones, carbohydrate and lipid markers, drug use, and menstrual history were obtained at baseline. Exclusion criteria were menarcheal age <2 years, hormonal contraceptive or metformin use, Tanner stage <4, and incomplete data on PCOS or MeS classification. Setting: University medical center outpatient clinic. Patient(s): Ninety-eight girls ages 13–19.6 years, Tanner 5, average body mass index of 46.6 kg/m2, menarche at 11.4 years, and average menarcheal age of 5 years. Intervention(s): None. Main Outcome Measure(s): Polycystic ovary syndrome and MeS. Result(s): Ninety-eight girls were divided into four groups: PCOS by National Institutes of Health criteria (PCOSN, n = 24), irregular menses only (n = 25), elevated T (≥55 ng/dL) only (n = 6), and obese controls (n = 43). Metabolic syndrome by modified Cook criteria affected 32 girls or 33% overall: 6 of 24 PCOSN, 7 of 25 irregular menses only, 4 of 6 elevated T only, and 15 of 43 obese controls. Polycystic ovary syndrome by National Institutes of Health criteria and its individual components were not associated with MeS after adjusting for body mass index. Conclusion(s): Unlike obese adults, PCOSN and its individual components were not associated with MeS in the untreated morbidly obese adolescent population. [Copyright &y& Elsevier]

Systemic lupus erythematosus (SLE) and myasthenia gravis (MG) are autoimmune diseases, their association in the same patient being rarely described. Here, we report a case of SLE in a 19-year-old girl who within 2 years of the diagnosis of SLE developed MG, and underwent thymectomy for a benign thymoma immediately thereafter. [ABSTRACT FROM AUTHOR]

Objective: To evaluate adult height (AH) in 25 girls with Turner syndrome (TS) who were treated from before 6 years of age for 10.0±1.7 years with a fixed GH dose of 0.33 mg/kg per week. Patients and design: After a 6-month pretreatment assessment all patients were measured 6-monthly under therapy to assess height SDS (H-SDS) and height velocity (HV) until AH achievement. Results: Following initial acceleration, HV declined after the first 4 years of therapy. At the end of the sixth year of therapy, H-SDS gain was 1.9±1.1. Thereafter, H-SDS gain from baseline decreased, becoming 0.9±0.9 SDS at AH achievement. Bone maturation velocity did not significantly change throughout the prepubertal period. According to Lyon standards for TS, mean AH SDS was significantly higher than pretreatment H-SDS (P<0.0001), with a mean H-SDS change of 0.9±0.9. However, the prevalence of patients with AH ± - 2 SDS (according to Sempé standards) was close to those recorded at the start of therapy (16/25 vs 18/25). No significant differences in terms of AH were found between patients with either X monosomy or X-chromosomal abnormalities and between girls with either spontaneous or induced puberty. Conclusions: We infer that the therapeutic regimen adopted in this prospective study is sufficient to induce a significant growth acceleration during the first year, but the response waned after 6 years of treatment. [ABSTRACT FROM AUTHOR]

Abstract: Toothbrushing-induced seizures are rare reflex seizures triggered by the brushing of one’s own teeth. We encountered an 11-year-old girl with severe mental retardation, hypotonic cerebral palsy and epilepsy who presented with toothbrushing-induced seizures. She had had spontaneous brief tonic seizures several times a day since the age of 1year and 2months and started presenting with the same type of seizures induced by toothbrushing from the age of 8years. As she could not brush her teeth by herself due to her disabilities, her mother brushed her teeth daily for her. The interictal EEG showed spike-and-wave complexes in the frontal regions bilaterally. The [Tc-99m]HMPAO-SPECT at the time of the seizure induced by toothbrushing suggested that the seizures originated from the left perisylvian cortex. This is the first report of toothbrushing-induced seizures triggered by the brushing of the patient’s teeth by another person (‘passive toothbrushing’). [Copyright &y& Elsevier]

Purpose: In girls with congenital adrenal hyperplasia the degree to which excess androgen exposure leads to the development of prostatic tissue is largely uncharacterized, except in rare case reports of prostatic growth and adenocarcinoma. Such growth yields concern for future malignant degeneration. Materials and Methods: Chart review identified 43 adult women with congenital adrenal hyperplasia who had been longitudinally followed from birth, of whom 11 were available for history and physical examination, laboratory testing for androgen metabolites, and pelvic magnetic resonance imaging. Results: Periurethral thickening was noted on digital rectal examination in 1 patient with increased 17-hydroxyprogesterone and tissue analogous to prostatic tissue was impalpable in the remaining 10. Prostate specific antigen was 0.2 ng/ml in another patient with notably increased testosterone, androstenedione, dihydrotestosterone and 17-hydroxyprogesterone, and was less than 0.1 ng/ml in the remaining patients. Magnetic resonance imaging revealed an absence of definitive prostatic tissue in all 11 patients despite evidence of genitourinary masculinization in all. Of the 11 women 7 had marked androgen excess. Conclusions: Despite androgen excess and genitourinary masculinization in patients with congenital adrenal hyperplasia, as well as case reports citing evidence of prostatic tissue and adenocarcinoma in these women, our study successfully documents the absence of notable prostatic growth in these patients. A better understanding of the timing and factors involved in prostatic growth would aid in identifying the degree to which adult women with congenital adrenal hyperplasia are at risk for adverse sequelae of Skene gland growth. [Copyright &y& Elsevier]

Mutations in the X-linked cyclin dependent kinase like 5 (CDKL5) gene have been reported in approximately 80 patients since the first description in 2003. The clinical presentation partly corresponds with Rett syndrome, considering clinical features as intellectual disability, hypotonia, and poor visual, language, and motor development. However, these patients do not meet the consensus criteria for Rett syndrome since they lack the clear period of regression. Furthermore, in contrast to Rett syndrome, patients with CDKL5 mutations, have seizures or infantile spasms starting in the first weeks of life. We present clinical phenotype of 5 girls having a mutation in the CDKL5 gene. All mutations are novel and are pathogenic since they either lead to a frameshift in the reading frame or affect a consensus splice site. Four of the mutations are detected de novo in the affected girl. [ABSTRACT FROM PUBLISHER]

Polycystic ovarian syndrome (PCOS) is frequently characterized by obesity and metabolic diseases including hypertension, insulin resistance, and diabetes in adulthood, all leading to an increased risk of atherosclerosis. The present study aimed to evaluate serum and production of inflammatory markers in adolescent Sardinian PCOS. On the basis of HOMA findings, patients were divided into noninsulin resistant (NIR) and insulin resistant (IR), and were weight- and age-matched with healthy girls. Inflammatory cytokines (TNF-α, IL-6, Il-10, TGF-β) andlipokines (leptin, adiponectin), the reactant hs-CRP, and in vitro inflammatory lympho-monocyte response to microbial stimulus were evaluated. In healthy and PCOS subjects, leptin and hs-CRP were correlated with BMI, whereas adiponectin was significantly reduced in all PCOS groups. Although cytokines were similar in all groups, Interleukin-6 (IL-6) was significantly higher in IR PCOS. Moreover, in the latter group lipopolysaccharide-activated monocytes secreted significantly higher levels of IL-6 compared to NIR and control subjects. To conclude, IR PCOS displayed increased IL-6 serum levels and higher secretion in LPS-activated monocytes, whilst revealing no differences for other inflammatory cytokines. These results suggest that in PCOS patients an altered immune response to inflammatory stimuli is present in IR, likely contributing towards determining onset of a low grade inflammation. [ABSTRACT FROM AUTHOR]

Abstract: Recently, there have been many reports on the efficacy and safety of tacrolimus (FK506) treatment for adult patients with intractable generalized myasthenia gravis (MG). There have also been a few reports of successful FK506 therapy in patients with severe childhood-onset generalized MG involving a myasthenic crisis. Herein, we report the efficacy of FK 506 for refractory ocular symptoms in a 3-year-old girl with ocular type MG. Ptosis and alternating strabismus had appeared at 10 months of age. No bulbar signs, respiratory failure or generalized muscle weakness had been seen during her course. Her ocular symptoms had persisted despite repeated steroid pulse therapy, high dose oral prednisolone and thymectomy. Adverse effects of steroids, including obesity, growth retardation, osteoporosis, cataracts and hyperlipidemia, gradually worsened. After obtaining written informed consent from her parents, we started oral tacrolimus at a dose of 0.5mg/day and her symptoms resolved completely within 3 weeks at a maximum dose of 2.5mg/day. No adverse effects, such as renal failure or glucose intolerance, were seen. FK506 treatment allowed the steroid dose to be reduced, eliminating its adverse effects. In patients with intractable childhood-onset MG with ocular manifestations, FK506 is an alternative to steroid therapy or thymectomy. [Copyright &y& Elsevier]

Objective: To determine whether premature ovarian insufficiency (POI) associated with classic galactosemia results from a true impairment of ovarian function or from aberrant FSH.Design: Cross-sectional study.Setting: University research laboratory.Patient(s): Study subjects included 35 girls and women with galactosemia and 43 control girls and women between the ages of <1 and 51 years.Intervention(s): Blood sampling and medical and reproductive histories were obtained.Main Outcome Measurement(s): We determined FSH and anti-Müllerian hormone (AMH) levels in subjects with and without classic galactosemia. FSH bioactivity was measured in a subset of girls and women with and without galactosemia who were not on hormone therapy.Result(s): FSH levels were significantly higher and AMH levels were significantly lower in our galactosemic cases relative to controls. FSH bioactivity did not significantly differ between cases and controls.Conclusion(s): Close to 90% of girls and women with classic galactosemia have a profound absence of ovarian function, a deficit that is evident shortly after birth, if not before. These patients have no evidence of abnormally functioning FSH. AMH levels can be assessed before menarche or after initiation of hormone therapy and may supplement FSH as a useful blood biomarker of ovarian function for patients with classic galactosemia. [ABSTRACT FROM AUTHOR]

Objective. Complete androgen insensitivity syndrome (CAIS) is a rare disease. However, there is a higher rate of CAIS in girls with inguinal hernia. The aim of this study was to estimate the incidence of CAIS in girls with inguinal hernia and to find a proper screening test for CAIS in these girls. Material and methods. A total of 109 consecutive girls attending the University Hospitals of Turku and Tampere, Finland, for inguinal hernia repair between January 2003 and December 2007 participated in the study. After induction of anaesthesia, vaginal length was measured with a small, lubricated Hegar dilator. During hernia repair, tension was placed on the round ligament to identify the contents of the hernial sac. The karyotype of all patients was measured, with identification of the Y-chromosome from a buccal mucosa swab sample. Vaginal length measurements were plotted against age and standards for vaginal length in prepuberty were established. Results. Four patients were found to have very short vaginas, with one CAIS patient confirmed as having a 46XY karyotype from the verification of the Y-chromosome from buccal mucosa. The other three patients with abnormal vaginal length were karyotypically normal XX girls and had visible ovaries, fallopian tubes or round ligament, which suggests an error in the measurements. Unlike all the other operated girls, the CAIS patient lacked a round ligament. Conclusions. The incidence of CAIS in girls undergoing hernia repair was 1%. The CAIS patient had a significantly shorter vagina than girls with normal karyotype. Vaginal length is a useful additional clinical tool in screening girls for karyotyping CAIS, especially if abnormalities in the round ligament and contents of the hernial sac are suspected. It is recommended that ovaries and fallopian tubes are searched for if the round ligament is not found to be normal during the hernia operation. If no ovaries or fallopian tubes are found, consent for karyotyping should be sought in cases where the vaginal length is <4 cm in girls older than 4 years and <3 cm in younger girls. [ABSTRACT FROM AUTHOR]

A four-year-old girl was brought to the dermatology outpatient department with scaling all over the body since birth. She had history of episodic vomiting and abdominal distension. A dermatological diagnosis of lamellar ichthyosis was made. Abdominal examination revealed a nontender hepatomegaly, fatty liver on ultrasonography and deranged liver function tests. Peripheral blood smear showed lipid vacuoles in the granulocytes consistent with Jordans' anomaly. Similar lipid vacuoles were seen in the basal layer in skin biopsy. An inflammatory infiltrate, moderate fibrosis in the portal tract and diffuse severe fatty change in hepatocytes were seen in liver biopsy. The patient was diagnosed as a case of Dorfman-Chanarin syndrome. [ABSTRACT FROM AUTHOR]

Herein we present the largest retrospective case-control series of deep sedation in patients with Rett syndrome, including discussion of the unique aspects of Rett syndrome that make these patients at high risk for sedation. Twenty-one patients with Rett syndrome and 21 control patients who received propofol for deep sedation to facilitate lumbar puncture were compared. Patients with Rett syndrome required significantly less propofol than control patients when standardized for weight and the duration of the procedure (P = .004). Seven of the 21 patients with Rett syndrome compared with none of the control patients experienced a serious adverse event, most of which were due to prolonged apnea (P = .004). All adverse events were transient, and all patients returned to their baseline after the procedure was completed. Sedation of patients with Rett syndrome is associated with a relatively high rate of complications and should not be done without appropriate personnel available who recognize the risks of sedating this unique population. [ABSTRACT FROM AUTHOR]

Objective. – To describe a specific electroclinical type of epileptic seizure in a patient with Rett syndrome.Patient and methods. – We present the case of a girl with Rett syndrome and epilepsy, whose seizures followed two differentiated phases, namely (a) a brief hypertonic onset with tonic-axial predominance, followed by (b) a posterior prolonged clinical absence. These two phases were associated, respectively, to a paroxystic desynchronisation or generalised rapid spikes discharges, followed by a critical slow activity.Conclusions. – The epileptic seizures described in this report have not been previously documented in Rett syndrome. We review and discuss pathophysiological hypotheses in the light of this and previously reported cases of the syndrome. [Copyright &y& Elsevier]

Rett syndrome (RTT) is a neurodevelopmental disorder affecting primarily females, with an incidence of around 1 in 15,000 females. In 1999, mutations in the X‐linked gene methyl‐CpG‐binding protein 2 (MECP2) were first reported in RTT subjects, and since that time there have been a number of publications describing cohorts of patients and their mutations. In addition, MECP2 mutations have been reported in patients who do not fit the diagnostic criteria for Rett syndrome. We have developed a new locus‐specific database, RettBASE (http://mecp2.chw.edu.au/), loosely based on the PAHdb website. The aim is to obtain data relating to all known instances of MECP2 variations, including published ta and data directly submitted by one of various means (either by using an online submission form, or by sending the same form in Adobe portable document format (pdf) or Microsoft Word format by email or fax to the database curators). The database has a range of query capabilities, allowing for simple or complex interrogation of the database. To address the issue of patient confidentiality, we have incorporated an Excel spreadsheet algorithm that allows the generation of a unique number based on the subject's name and date of birth. We believe this database will prove to be a useful resource, allowing the development of accurate prevalence data for disease‐causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype–genotype correlations to be drawn. Hum Mutat 21:466–472, 2003. © 2003 Wiley‐Liss, Inc. [ABSTRACT FROM AUTHOR]

This study evaluated bone status and bone turnover in 82 females (ages 2-21 years) with the Rett Syndrome (RS) and 82 age-matched controls. Bone mineral density (BMD) by dual X-ray absorptiometry (DXA) at the ultradistal and proximal radius and ultrasonographic (QUS) parameters at the calcaneus [speed of sound(SOS), broadband ultrasound attenuation(BUA), and stiffness] and at the phalanxes (amplitude dependent speed of sound: AD-SOS) were measured. We also measured serum calcium, phosphate, 25-hydroxyvitamin D, and biochemical markers of bone turnover. DXA and QUS parameters were significantly lower in patients with RS compared with controls and, among RS alone, in those treated with anticonvulsants and in those who are nonambulatory. Ambulatory RS patients showed QUS and DXA parameters significantly greater than nonambulatory patients but significantly lower than controls. Patients with RS treated with anticonvulsants presented QUS and DXA parameters lower than those of other RS. In RS patients, walking significantly influences BMD-UD, BMD-P, SOS. BUA. and Stiffness. Serum 25-hydroxyvitamin D was significantly lower in RS than in controls. These results suggest that ambulatory status, to a major extent, and anticonvulsant therapy certainly play an important role in the reduction of bone mass and bone quality, but they cannot completely explain the altered bone status. Whatever the cause, girls with RS present abnormal bone status with an increase in the risk of fracture. [ABSTRACT FROM AUTHOR]

The case of a 17-year-old Italian girl with thalassemia minor and fatal acute Wilson's disease together with severe hemolysis is reported. The fortuitous(?) occurrence of both genetically determined conditions in the same patient was the source of delayed diagnosis of the metabolic disorder. [ABSTRACT FROM AUTHOR]

Osteoma of the temporal bone most commonly occurs in the external ear. Osteomas in the middle ear are not common, and only 25 relevant cases (18 papers) have been reported in the English literature. With only 5 cases reported to date, osteoma of the promontory in the middle ear is rare. This study reports a case of asymptomatic osteoma of the promontory in the middle ear mimicking a congenital cholesteatoma in a 4-year-old girl. [ABSTRACT FROM AUTHOR]

Describes the case of an acute leukemic girl with extensive skin manifestations of herpes simplex infection. Medical history of the child; Results of her clinical examination; Treatment options.

Abstract: We report our clinical experience concerning the incidental finding of a ruptured ovarian yolk sac tumor combined with hemoperitoneum in a patient with abdominal blunt injury. An girl 8 years of age visited emergency department due to vomiting and persistent abdominal pain after abdominal blunt injury. Physical examination revealed pale conjunctiva, abdominal distension, and tenderness over bilateral lower abdomen without any obvious peritoneal sign. After stabilization of her condition, one huge pelvic tumor with ascites was identified by abdominal sonography and computed tomography scan. Subsequently, hemoperitoneum was confirmed by paracentesis procedure. During exploratory laparotomy, one ruptured left ovarian tumor with bleeding was identified. Therefore, she underwent left oophorectomy and left salpingectomy. Typical structures of Schiller-Duval bodies and hyaline globules in the tumor cells were identified. Biopsy of the omental tissues also confirmed metastatic lesions of the tumor. Ovarian yolk sac tumor (FIGO Stage 3) was confirmed. She received four courses of chemotherapy after the operation and received subsequent regular follow-up at the hospital with an uneventful recovery. This case highlights the possibility of ruptured ovarian yolk sac tumor after abdominal blunt injury as the cause of internal bleeding, and it should be taken into consideration as one possible etiology of hemoperitoneum in a young girl. [Copyright &y& Elsevier]

Primary biliary cirrhosis (PBC) is a slowly progressive cholestatic liver disease of autoimmune etiology. The initial presentation of PBC is varies from asymptomatic, abnormal liver biochemical tests to overt cirrhosis. Unlike other autoimmune liver diseases, PBC has rarely been reported in childhood. We report a case of primary biliary cirrhosis in a 12-year-old girl. In addition to characteristic histology features, strongly positive antimitochondrial antibodies, increased liver enzyme levels, increased serum quantitative immunoglobulin M levels, and cholestasis were discovered. She had been treated with ursodeoxycholic acid. In the world literature, we found only few pediatric patients of primary biliary cirrhosis. Aetiology, pathogenesis, the long-term natural history, and prognosis remain obscure. Due to increased awareness of early-onset PBC, rather than typical older ones, further pediatric cases may be discovered. [ABSTRACT FROM AUTHOR]

Renal cell carcinoma in the pediatric population is a rare disease. A limited number of cases of renal cell carcinoma exist worldwide in the pediatric population. Reported herein is a case of a 17-year-old female who presented to an outside hospital with gross hematuria and shortness of breath. She was found to have a pulmonary embolus on computed tomography scan. After further imaging, a large renal mass with renal vein and vena cava involvement was observed. Intraoperatively, the tumor demonstrated extensive invasion of the wall of the vena cava. [Copyright &y& Elsevier]

Abstract: A 14-year-old girl with juvenile dermatomyositis developed extensive and debilitating calcinosis, unresponsive to colchicine, while muscle involvement subsided. Pamidronate (2mg/kg/year) produced dramatic improvement of pain and function within 2 months and calcinosis had completely resolved by 2 years. No new calcifications have been noted with a 5-year follow-up. [Copyright &y& Elsevier]

The article presents the case study of a 17-year-old Japanese girl with sudden onset of calciphylaxis, a condition of skin necrosis. It is stated that calciphylaxis characterized by medial calcification of the dermal and subcutaneous small arteries. The patient was associated with an episode of temporary hypotension with chronic kidney failure undergoing peritoneal dialysis. She was treated with oral calcium carbonate and oral sevelamer hydrochloride.

Abstract: The subject of the case study was a 13 years old girl with Nijmegen breakage syndrome (NBS), having mild mental retardation and age inappropriate language skills. The case demonstrated severely delayed receptive and expressive language skills. The symptoms of NBS including congenital microcephaly, mild dysmorphic facial appearance, growth retardation, short stature, mental retardation, chromosome instability, speech and language delay were present in our case. Therefore treatment efforts were directed towards general speech and language stimulation techniques, expanding communicative intentions expressed, strengthening oro-facial musculature for articulatory precision, speech intensity and intelligibility. The client showed relatively better results over a short period of time. The favorable outcome of the present study provides an important example of the beneficial effects of therapy even for clients with poor prognosis. [Copyright &y& Elsevier]

Abstract: The association between an abdominal aortic aneurysm (AAA) and tuberous sclerosis (TS) is rare. An 8-month-old girl presented with a seizure, and the clinical evaluation revealed TS. An abdominal evaluation showed a 3-cm infrarenal AAA. A normal diameter of infrarenal aorta for an 8-month-old girl is about 6mm. The patient underwent an open repair with a polytetrafluoroethylene (PTFE) prosthesis. The pathology showed a loss of elastin fibres in the media of the aorta. The graft was patent on computed tomography (CT) angiography, performed 4 months after the operation. However, the patient died of complications related to seizures 5 years after the surgery. The graft remained patent until the time of death. [Copyright &y& Elsevier]

Ductal aneurysm is a rare but potentially fatal condition. We report the case of an asymptomatic 4-year-old girl who was noted to have a murmur and with further evaluation by echocardiography and computed tomographic angiography was diagnosed with a giant ductal aneurysm. The aneurysm occupied a large space in the mediastinum, compressed the pulmonary arteries, and was in close proximity to the sternum. At surgery, the aneurysm was successfully resected after careful separation from adjacent structures. Because the anterolateral wall of the ascending aorta was noted to be extraordinarily thinned-out, it was replaced with a patch. [Copyright &y& Elsevier]

This report describes the delayed presentation of right-side Morgagni hernia in a 15-year-old girl with Turner syndrome. It is commonly associated with a number of systemic malformations and abnormalities. Morgagni hernia is a rare type of congenital diaphragmatic hernia, which may not be symptomatic until adulthood when the patient presents with acute symptoms or incarceration. As this result, patients with Turner syndrome should be investigated for Morgagni hernia because there may be an association between the two, and Morgagni hernia may be asymptomatic. [ABSTRACT FROM AUTHOR]

Postvoiding urine accumulation in the vestibule is clearly demonstrated in a 5-year-old girl who suffered from urgent urinary incontinence and postvoiding urine leakage. Before catheterization for urodynamic study, the two labia majorae fused temporarily by sticky mucoid substance and easily separated by the examiner's fingers. Temporary adhesion of labia majora might be the cause of urinary incontinence, which was quickly reversed by correcting to normal voiding posture. [ABSTRACT FROM AUTHOR]

Le but de notre travail c’est de souligner l’intérêt de l’imagerie et notamment l’IRM dans le diagnostic et le suivi de la nephroblasromatose. Nous rapportons l’observation d’une fille âgée de 10 mois, sans antécédents pathologiques notables ni de syndrome dysmorphique, hospitalisée dans notre formation pour une pâleur. L’examen a objectivé des masses au niveau des deux flancs mesurant 8cm à droite, et 4cm à gauche. L’enfant a bénéficié d’une échographie qui a objectivé une néphromégalie bilatérale. La biologie a montré un syndrome inflammatoire avec une insuffisance rénale modérée. La patiente à reçu une antibiothérapie après avoir retenu le diagnostic d’infection urinaire. Devant la persistance d’un syndrome inflammatoire et de la néphromégalie, un uroscanner fut demandé, parlant de néphromégalie avec lésions hypodenses. Nous avons complété par une uroIRM qui a permis de retenir le diagnostic de néphroblastomatose. La malade fut alors transférée dans le service d’hémato- oncologie pour une meilleure prise en charge. Cette observation illustre bien les difficultés diagnostiques que pose la néphroblastomatose et montre. [ABSTRACT FROM AUTHOR]

The article presents a case study of 10-year-old girl who was first observed due to the presence from two years on the flexor surface of the left forearm of asymptomatic lesions in linear distribution with centrifugal evolution. It mentions that her physical examination revealed lesions and based on clinical and dermoscopic findings, the patient was diagnosed with linear porokeratosis.

Three siblings (two girls and one boy) and their father are reported who developed Huntington's disease (HD). The two girls had onset at less than six years of age, while the boy started with symptoms at 12 years of age. The girl, the child number two, has expired and the youngest one is in a vegetative state. The elder brother is still mildly affected. The disease presented in a severe form and early in the females while it remained mild and presented late in the males. This is a rare disease involving all the three surviving siblings and their father. The diagnosis was confirmed after genetic testing. [ABSTRACT FROM AUTHOR]

Background Vaginal discharge is the most common gynecological symptom in prepubescent girls. Case We report a case of vaginitis caused by Corynebacterium amycolatum in a prepubescent girl and successful treatment with targeted antibiotics. Summary and Conclusion Vaginal discharge is most commonly attributed to poor hygiene or nonspecific irritants; however, some patients have recurrent vulvovaginitis that is primarily caused by a variety of bacteria. For these patients, identifying the associated pathogens is critical for treatment. [ABSTRACT FROM AUTHOR]

Background Xanthogranuloma, also known as cholesterol granuloma, is an extremely rare intracranial neoplasm most commonly located in the middle ear, petrous apex, or choroid plexus. Exclusively suprasellar xanthogranulomas are exceptional and this report presents a very rare case in the pediatric population, particularly unique due to the presence of calcification. Case Description A 17-year-old girl presented with primary amenorrhea with computed tomography and magnetic resonance imaging showing a large calcified enhancing suprasellar mass, which was presumptively diagnosed as a craniopharyngioma on the basis of its clinical and radiologic appearance. Gross total resection of a well-encapsulated, exclusively suprasellar tumor was achieved, without postoperative neurologic deficits. Histologic examination found fibrous tissue with abundant cholesterol clefts, multinucleated giant cells, and hemosiderin deposits but no epithelial cells. The final histologic diagnosis was a xanthogranuloma. Conclusions Xanthogranuloma, although extremely rare in the pediatric population, may present as a calcified suprasellar mass and manifest with primary amenorrhea. The prognosis after gross total resection is likely favorable; however, long-term follow-up is indicated for these rare neoplasms. [ABSTRACT FROM AUTHOR]

The article discusses the case of an 8-year old girl patient who presented with a fever and rash, strawberry tongue and enlarged cervical lymph nodes and was diagnosed with Kawasaki disease.

Focuses on the clinical case of a Japanese girl with Kawasaki disease followed by haemophagocytic syndrome. Information on the clinical signs shown by the patient; Summary of laboratory data; Details of the daily dose of the treatments administered to the patient.