A Single-System Ectopic Ureter in a Child: A Challenge for Early Diagnosis.

An ectopic ureter is an uncommon anomaly, usually associated with a duplicated urinary system. Up to 20% of ectopic ureters occur in a single system. In females, only 25% of ectopic ureters insert into the vagina and usually cause urinary incontinence, which can be confused with vaginal discharge. The diagnostic investigation includes urinary tract ultrasound, DMSA, and urethrocystography, which evaluate renal morphology and function, determining factors for surgical treatment decision that aims to preserve renal function, prevent the recurrence of infections, and reestablish urinary continence. The rarity of this anomaly and the delay in recognizing symptoms are factors related to late diagnosis.

Respiratory sleep disorders, nasal obstruction and enuresis in children with non-syndromic Pierre Robin sequence.

INTRODUCTION: Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea and nasal obstruction and between obstructive sleep apnea and enuresis. Assessment of the relationship between these variables in non-syndromic Pierre Robin sequence patients is scarce. OBJECTIVE: The present study aims to evaluate the relationship between symptoms of obstructive sleep apnea, nasal obstruction and enuresis, determining the prevalence of symptoms suggestive of these conditions, in schoolchildren with non-syndromic Pierre Robin sequence, and describe the prevalence of excessive daytime sleepiness habitual snoring and voiding dysfunction symptoms associated with enuresis. METHODS: This was a prospective analytical cross-sectional study developed at a reference center. Anthropometric measurements and a structured clinical interview were carried out in a sample of 48 patients. The instruments "sleep disorders scale in children" "nasal congestion index questionnaire" (CQ-5), and the "voiding dysfunction symptom score questionnaire" were used. Statistical analysis was performed for p < 0.05. RESULTS: Positive "sleep disorders scale in children" scores for obstructive sleep apnea and CQ-5 for nasal obstruction were observed in 38.78% and 16.33%, respectively. Enuresis was reported in 16.33% of children, being characterized as primary in 71.43% and polysymptomatic in 55.55%; according to the "voiding dysfunction symptom score questionnaire". There was a significant relationship between nasal obstruction and obstructive sleep apnea symptoms (p < 0.05), but no significance was found between obstructive sleep apnea symptoms and enuresis, and between nasal obstruction and enuresis. The prevalence of excessive daytime sleepiness was 12.24% and of habitual snoring, 48.98%. A family history of enuresis, younger age in years and a positive "voiding dysfunction symptom score questionnaire" score were associated with a higher prevalence of enuresis (p < 0.05). CONCLUSION: Children with non-syndromic Pierre Robin sequence are at high risk for obstructive sleep apnea symptoms and habitual snoring, with a correlation being observed between nasal obstruction and obstructive sleep apnea symptoms. In addition, the study showed that non-syndromic Pierre Robin sequence, obstructive sleep apnea and nasal obstruction symptoms were not risk factors for enuresis in these patients.

Respiratory sleep disorders, nasal obstruction and enuresis in children with non-syndromic Pierre Robin sequence / Desordens respiratórias do sono, obstrução nasal e enurese em crianças com sequência de Pierre Robin não sindrômica

Abstract Introduction Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea and nasal obstruction and between obstructive sleep apnea and enuresis. Assessment of the relationship between these variables in non-syndromic Pierre Robin sequence patients is scarce. Objective The present study aims to evaluate the relationship between symptoms of obstructive sleep apnea, nasal obstruction and enuresis, determining the prevalence of symptoms suggestive of these conditions, in schoolchildren with non-syndromic Pierre Robin sequence, and describe the prevalence of excessive daytime sleepiness habitual snoring and voiding dysfunction symptoms associated with enuresis. Methods This was a prospective analytical cross-sectional study developed at a reference center. Anthropometric measurements and a structured clinical interview were carried out in a sample of 48 patients. The instruments "sleep disorders scale in children" "nasal congestion index questionnaire" (CQ-5), and the "voiding dysfunction symptom score questionnaire" were used. Statistical analysis was performed for p< 0.05. Results Positive "sleep disorders scale in children" scores for obstructive sleep apnea and CQ-5 for nasal obstruction were observed in 38.78% and 16.33%, respectively. Enuresis was reported in 16.33% of children, being characterized as primary in 71.43% and polysymptomatic in 55.55%; according to the "voiding dysfunction symptom score questionnaire". There was a significant relationship between nasal obstruction and obstructive sleep apnea symptoms (p< 0.05), but no significance was found between obstructive sleep apnea symptoms and enuresis, and between nasal obstruction and enuresis. The prevalence of excessive daytime sleepiness was 12.24% and of habitual snoring, 48.98%. A family history of enuresis, younger age in years and a positive "voiding dysfunction symptom score questionnaire" score were associated with a higher prevalence of enuresis (p< 0.05). Conclusion Children with non-syndromic Pierre Robin sequence are at high risk for obstructive sleep apnea symptoms and habitual snoring, with a correlation being observed between nasal obstruction and obstructive sleep apnea symptoms. In addition, the study showed that non-syndromic Pierre Robin sequence, obstructive sleep apnea and nasal obstruction symptoms were not risk factors for enuresis in these patients.

Resumo Introdução A apneia obstrutiva do sono apresenta elevada prevalência na população com sequência de Pierre Robin não sindrômica. Estudos constataram provável relação entre apneia obstrutiva do sono e obstrução nasal e entre apneia obstrutiva do sono e enurese, é escassa a avaliação da relação entre essas variáveis na sequência de Pierre Robin não sindrômica. Objetivo Avaliar a relação entre sintomas de apneia obstrutiva do sono, obstrução nasal e enurese, determinar a prevalência de sintomas sugestivos dessas condições, em crianças em idade escolar com sequência de Pierre Robin não sindrômica, assim como descrever a prevalência de sonolência excessiva diurna, ronco habitual e sintomas de disfunção miccional associados à enurese. Método Estudo prospectivo transversal analítico desenvolvido em centro de referência. Fez‐se aferição antropométrica e entrevista clínica estruturada em amostra de 48 pacientes. Os instrumentos usados foram: "escala de distúrbios do sono em crianças", questionário "índice de congestão nasal" (CQ‐5) e questionário "sistema de escore de disfunção miccional". A análise estatística foi feita para p < 0,05. Resultados Escores positivos da "escala de distúrbios do sono em crianças" para apneia obstrutiva do sono e do CQ‐5 para obstrução nasal foram observados em 38,78% e 16,33%; respectivamente. Enurese foi relatada em 16,33% das crianças e foi caracterizada como primária em 71,43% e polissintomática em 55,55%; conforme "sistema de escore de disfunção miccional". Observou‐se relação significante entre obstrução nasal e sintomas de apneia obstrutiva do sono (p < 0,05), porém não significante entre sintomas de apneia obstrutiva do sono e enurese, e obstrução nasal e enurese. A prevalência de sonolência excessiva diurna foi de 12,24% e de ronco habitual, de 48,98%. História familiar de enurese, menor idade em anos e escore positivo na "sistema de escore de disfunção miccional" foram associados a maior prevalência de enurese (p < 0,05). Conclusão Crianças com sequência de Pierre Robin não sindrômica estão sob alto risco para sintomas de apneia obstrutiva do sono e ronco habitual, foi observada correlação entre obstrução nasal e sintomas de apneia obstrutiva do sono. Demonstrou‐se, também, que sequência de Pierre Robin não sindrômica, sintomas de apneia obstrutiva do sono e obstrução nasal não constituíram fator de risco para enurese na população estudada.

Symptoms of Obstructive Sleep Apnea, Nasal Obstruction, and Enuresis in Children With Nonsyndromic Cleft Lip and Palate: A Prevalence Study.

OBJECTIVE: To estimate the prevalence of symptoms of obstructive sleep apnea (OSA), nasal obstruction, and enuresis in children with nonsyndromic unilateral cleft lip and palate. DESIGN: Prospective cross-sectional study. SETTING: Referral care center. PARTICIPANTS: One hundred seventy-four children aged 6 to 12 years of both genders. INTERVENTIONS: Symptoms of OSA and nasal obstruction were investigated by analysis of scores obtained by the Sleep Disturbance Scale for Children (SDSC) and Congestion Quantifier (CQ-5). Enuresis was considered as present when urinary loss was reported during sleep (at least 1 episode/month, last 3 months). To characterize the enuresis as mono- or polysymptomatic, symptoms of dysfunction of the lower urinary tract (DLUT) were investigated by the Dysfunctional Voiding Scoring System (DVSS). Statistical analysis was performed at a 5% level of significance. RESULTS: Positive SDSC scores for OSA were observed in 60 (34%) children; positive CQ-5 scores for nasal obstruction in 45 (26%), positive DVSS scores for DLUT in 30 (17%), and enuresis was reported by 29 (17%), being categorized as primary in 66% and polysymptomatic in 72% of the children. Compared to the pediatric population, OSA, nasal obstruction, and enuresis prevalence ratios were up to 7 (95% confidence interval [CI] 5-9), 2 (95% CI 2-3), and 3 times (95% CI 2-5) higher, respectively. There was a positive/moderate correlation between symptoms of OSA and nasal obstruction ( P = .0001). No correlation was seen between symptoms of OSA and enuresis. CONCLUSIONS: Children with nonsyndromic cleft lip and palate have high prevalence of nasal obstruction and enuresis and are at risk of OSA.

Surgical Closure of the Cleft Palate Has a Transient Obstructive Effect on the Upper Airway in Children.

OBJECTIVE: To prospectively investigate the occurrence of respiratory symptoms related to obstructive sleep apnea (OSA) following primary palatoplasty in children with cleft palate (CP). METHOD: Fifty-six nonsyndromic children presenting CP with a previously repaired cleft lip (CL) or without CL were assessed before and after palate repair. Twenty nonsyndromic children with isolated CL were analyzed as controls before and after lip repair. Respiratory symptoms were investigated preoperatively, and at early and late postoperative periods. Based on the parent reports of "difficulty of breathing (D), apnea events (A) and/or snoring (S) during sleep, a validated OSA index (1.42D + 1.41A + 0.71S - 3.83) was used to predict absence of OSA, possible OSA, and presence of OSA, at the 3 periods analyzed. RESULTS: Screening for OSA showed that the CP group exhibited an increased mean index at the early postoperative assessment, suggesting "possible OSA," and a higher frequency of snoring at the early and late postoperative assessments, as compared to the CL group (P < .05). Sleep apnea events were not reported. CONCLUSIONS: Surgical closure of the palate has an obstructive effect on the upper airway in the short term, causing OSA-related respiratory symptoms, mostly transient. However, the high prevalence of snoring still observed in the long term indicate that children with a palatal cleft who undergo surgical repair are at risk for OSA. The results support the conclusion that OSA is underappreciated in this population.

Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery Hospital for Rehabilitation of Craniofacial Anomalies in Brazil from January 1999 through August 2010 was performed. Patients between 11 and 36 years of age (mean 18.29 ± 5.80), received cognitive evaluations, cerebral magnetic resonance imaging, and molecular DNA analyses. Eight patients with Apert syndrome (AS) had full scale intelligence quotients (FSIQs) that ranged from 47 to 108 (mean 76.9 ± 20.2), and structural brain abnormalities were identified in five of eight patients. Six patients presented with a gain-of-function mutation (p.Ser252Trp) in FGFR2 and FSIQs in those patients ranged from 47 to78 (mean 67.2 ± 10.7). One patient with a gain-of-function mutation (p.Pro253Arg) had a FSIQ of 108 and another patient with an atypical splice mutation (940-2A →G) had a FSIQ of 104. Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7). These reveal that molecular aspects are another factor that can be considered in studies of global and cognitive development of patients with Apert and Crouzon syndrome (CS). © 2016 Wiley Periodicals, Inc.

Nasal Airway Dimensions of Children With Repaired Unilateral Cleft Lip and Palate.

OBJECTIVE: To measure cross-sectional areas of the main nasal constrictions as a function of the distance into the nose in children with repaired unilateral cleft lip and palate, as compared with children without cleft, by acoustic rhinometry. DESIGN: Prospective analysis. SETTING: Craniofacial anomalies hospital. PARTICIPANTS: A total of 39 children with repaired unilateral cleft lip and palate and 34 healthy controls without cleft, of both genders, aged 6 to 9 years. Interventions/Variables : Nasal cross-sectional areas measured at the three main deflections of the rhinogram (CSA1, CSA2, CSA3) and distances from the nares (dCSA1, dCSA2, dCSA3) were assessed by means of an Eccovision Acoustic Rhinometer, before and after nasal decongestion. Differences were analyzed at a significance level of 5%. RESULTS: At the cleft side, mean CSA1, CSA2, and CSA3 values ± standard deviation obtained before nasal decongestion were 0.17 ± 0.12, 0.29 ± 0.20, and 0.40 ± 0.28 cm(2), respectively, and dCSA1, dCSA2, and dCSA3 values ± standard deviation were 2.02 ± 0.40, 3.74 ± 0.51, and 5.50 ± 0.44 cm, respectively. At the noncleft side, these were 0.33 ± 0.11, 0.65 ± 0.28, and 0.90 ± 0.43 cm(2), respectively, and 1.69 ± 0.48, 3.67 ± 0.53, and 5.60 ± 0.70 cm, respectively. Increased cross-sectional area means were seen after nasal decongestion in the control and cleft groups. Mean cross-sectional area values at the cleft side were significantly smaller than noncleft side and control values, and the mean dCSA1 value was smaller at the noncleft side before and after decongestion. CONCLUSIONS: Objective assessment of internal nasal dimensions has shown that children with unilateral cleft lip and palate have a significant impairment of nasal patency due to the reduced cross-sectional areas seen at the cleft side.