Perfil epidemiológico da criança e do adolescente com fissura oral atendidos em um centro de referência em Curitiba, PR, Brasil / Epidemiological profile of children and adolescents with oral cleft treated at a referral center in Curitiba, PR, Brazil

INTRODUÇÃO: A fissura oral é a segunda maior causa de anomalias congênitas e representa a principal alteração craniofacial em nascidos vivos. O objetivo do presente estudo foi determinar os dados epidemiológicos do Centro de Atenção Integral ao Fissurado Labiopalatal, no período entre janeiro de 2011 e dezembro de 2014. MÉTODOS: Estudo retrospectivo utilizando prontuários clínicos. Foram avaliados 1262 prontuários de pacientes portadores de fissura oral. Após aplicação dos critérios de inclusão e exclusão, 52,7% prontuários foram incluídos no estudo. RESULTADOS: Entre os 666 prontuários, 57,4% foram do gênero masculino e 42,6% do feminino. Verificou-se que 34,8% dos pacientes apresentaram fissuras transforame, 27,2% fissuras pré-forame, 25,8% fissuras pós-forame e 12,2% outros tipos de fissuras. Pacientes oriundos de Curitiba e Região Metropolitana correspondem a 36,6%, aqueles do Interior do Paraná abrangem 61% dos atendimentos no Centro de Atenção. As medianas de idade na primeira consulta, entre os pacientes de Curitiba e Região Metropolitana e do Interior do Paraná, são de 1 mês e 2 meses, respectivamente. E a primeira cirurgia, realizada no Centro de Atenção, foi em torno de 6 meses, nos pacientes de Curitiba e Região Metropolitana, e de 7 meses naqueles oriundos do Interior do Paraná. CONCLUSÃO: Verificou-se predomínio de fissuras em meninos e maior frequência da fissura pós-forame incompleta. Observou-se que, apesar da distância, as crianças oriundas do Interior do Paraná realizaram a cirurgia de correção e chegaram ao centro de referência com apenas um mês de diferença em relação aquelas da cidade sede do Centro de Atenção Integral ao Fissurado Labiopalatal.

INTRODUCTION: Oral cleft is the second major cause of congenital anomalies and represents a major craniofacial alteration in live births. The objective of this study was to analyze the epidemiological data collected from the Center for Comprehensive Care to Individuals with Cleft Lip and Palate in the period from January 2011 to December 2014. METHODS: This retrospective study evaluated 1,262 medical records of patients with an oral cleft. After applying the inclusion and exclusion criteria, 52.7% of the medical records were included in the study. RESULTS: Among the 666 medical records, 57.4% were of male patients and 42.6% were of female patients. Of these, 34.8% of the patients had a trans-foramen cleft, 27.2% had a pre-foramen cleft, 25.8% had a post-foramen cleft, and 12.2% had another type of cleft. Patients from Curitiba and the metropolitan region constituted 36.6% of the cases, and patients from rural areas of Paraná represented 61% of the visits to the care center. The median age at the first visit of the patients from Curitiba/metropolitan region and rural areas of Paraná was 1 and 2 months, respectively. The first surgery was performed at the care center at the age of 6 months in patients from Curitiba and metropolitan region and 7 months in patients from rural areas of Paraná. CONCLUSION: There was a predominance of boys and a higher prevalence of incomplete post-foramen clefts in the total population. Despite the long distance to the care center, children from rural areas of Paraná underwent the correction surgery and were treated at the referral center with an age difference of only 1 month compared with patients who lived in Curitiba, where the care center is located.

[Interstitial laser coagulation in Twin Reversed Arterial Perfusion sequence]. / Mikroinwazyjna laserowa koagulacja naczyn wewnatrzbrzusznych w zespole odwróconej perfuzji tetniczej.

Twin Reversed Arterial Perfusion (TRAP) sequence complicates about 1% of all monochorionic twin pregnancies and about 1 to 35000 of all pregnancies. It involves an acardiac twin whose structural defects are incompatible with life, and an otherwise normal "pump" co-twin. As the blood flow in the acardiac twin is reversed, it keeps on growing owing to the oxygenated blood from the co-twin. Here we report a case of monochorionic, diamniotic twin pregnancy after ICS/-ET complicated with TRAP sequence, diagnosed at 11 weeks of pregnancy The unusual finding in this case was the residual heart in the so called acardiac twin. Gradually the normal twin developed signs of hemodynamic compromise. Reversed a-wave in ductus venosus was observed. The acardiac twin showed subcutaneous oedema. On 24 November 2011 a successful interstitial ultrasound-guided laser coagulation was performed at 16 weeks of gestation. 17G needle and 0.6 mm laser fibre were used. The needle was introduced into the pelvic region of the acardiac twin through the abdominal wall. A series of laser bursts lasting 5-10 seconds were fired, until cessation of blood flow in the pelvic vessels and umbilical cord of the acardiac twin was confirmed using colour Doppler. The course of the intervention was uneventful. Routine steroid therapy was administered at 27 weeks of gestation. At 32 weeks the patient was hospitalized and oral antibiotics were administered due to premature rupture of the membranes and suspicion of intrauterine growth retardation of the pump twin. The patient delivered spontaneously at completed 33 weeks of pregnancy (weight 1805g, Apgar 10). After the delivery a stage 2 intraventricular hemorrhage and jaundice were observed in the neonate. Phototherapy was administered and the mother and the child were eventually discharged from the hospital, both in good general condition. Since then, two more successful interstitial laser coagulations in TRAP sequence were performed in our institution. The essence of the treatment of TRAP sequence is cessation of the blood flow from the pump to the acardiac twin. Fetoscopic cord ligature or coagulation, and laser or radiofreqency ablations of the acardiac twin vessels, are the possible methods of intervention. The interstitial laser coagulation of the acardiac twin is less invasive than fetoscopic umbilical cord coagulation, as the outer diameter of the 17G needle is much smaller. A meticulous comparison of these methods would require a randomised study but at 16 weeks of MCDA twin pregnancy interstitial laser coagulation seems to be the method of choice. The outcome of the procedure and possible treatment options in case of TRAP together with the review of literature, are presented in the article.

Combined vertical reduction rectoplasty and sacral nerve stimulation for rectal evacuatory dysfunction and faecal incontinence associated with previous anorectal malformation.

Functional outcomes following surgery for anorectal malformation are variable, with many children experiencing persisting anorectal dysfunction. We describe a 34-year-old female with previous vestibular fistula who experienced lifelong rectal evacuatory dysfunction and faecal incontinence; she was treated in a two stage process producing efficient defecation and almost total continence.

Comparison of anorectal angle and continence after Georgeson and Peña procedures for high/intermediate imperforate anus.

AIM: The anorectal angle (AA) influences defecation after pull-through (PT) for imperforate anus (IA). We compared postoperative AA and continence after Georgeson's laparoscopy-assisted colon PT (GPT) and Peña's posterior sagittal anorectoplasty (PSARP) for high/intermediate-type IA. METHODS: We reviewed 33 high/intermediate-type IA cases (20 GPTs and 13 PSARPs) prospectively. All had colostomy initially as neonates. Anorectal angle was measured as the angle between the rectum and the anal canal on barium enema. A fecal continence evaluation questionnaire (FCEQ) consisting of 5 parameters (frequency of defecation, staining/soiling, perianal erosion, anal shape, and requirement for medication; maximum score = 10) was evaluated in 28 cases (15 GPTs and 13 PSARPs) followed up for more than 3 years. RESULTS: Mean age at PT was similar (6.6 months for GPT and 6.3 months for PSARP; P = not significant). There was no significant difference in mean AA. The FCEQ scores for GPT were generally higher throughout the study and significantly better from 3 years postoperatively (P < .05). CONCLUSIONS: We are the first to confirm that effective AA similar to PSARP can be achieved after GPT, although FCEQ would suggest that GPT has less detrimental functional impact.

Vesico-vaginal fistula in a patient with Meyer-Rokitansky-Kuster-Hauser syndrome.

This was a case of Gishiri cut in a patient with Meyer-Rokitansky-Kuster-Hauser syndrome resulting in a vesico-vaginal fistula and urethral loss. This followed an attempt to enlarge and lengthen the vagina to enhance penile penetration. Few cases of MRKH syndrome presenting with complications after an attempt at treatment by traditional birth attendants have been reported. This report is particularly of essence as most urinary fistulae in Nigeria are obstetric fistulae following prolonged obstructed labour.

Nodoventricular pathway associated with twin AV nodes: complexity of ablation in single ventricle physiology.

We report the case of a patient with heterotaxy syndrome including complex single ventricular morphology and interrupted IVC in association with twin conduction systems and a nodoventricular accessory pathway connection. The presence of 3 distinct QRS morphologies was inadvertently discovered during a hemodynamic catheterization study and prompted formal EP testing prior to hepatic venous inclusion into the Fontan circuit and loss of access to the atrial chamber for testing and therapy. This patient underscores the importance of close surveillance and high index of suspicion of arrhythmia mechanisms in patients with heterotaxy syndrome in conjunction with single ventricle morphology.

Individualized management of upper rectal atresia.

BACKGROUND/PURPOSE: Congenital colonic atresia (CA) or stenosis is an infrequent cause of low intestinal obstruction in the neonate. Atresias can occur at any level, and the management of CA is determined by the atretic site and by the presence or absence of associated anomalies. We report our experience dealing with upper rectal atresia during a 5-year period. METHODS: Between January 2004 and December 2008, 3 female newborns with upper rectal atresia with or without associated anomalies were treated. Modes of clinical presentation, methods of diagnosis, associated anomalies, alternative management techniques, and clinical outcome were retrospectively analyzed. RESULTS: All 3 patients had progressive abdominal distension, bilious vomiting, and failure to pass meconium. Contrast enema showed an atresia at the upper rectum in 2 patients. At laparotomy, case 1 was found to have type III atresia of the upper rectum. Resection of the dilated portion of the proximal colon with end sigmoid colostomy was accomplished in the neonatal period followed by a transanal mucosectomy with takedown of the colostomy and a pull-through procedure at age 3 months. Case 3 had multiple jejunoileal atresias and an upper rectal atresia. The initial management was multiple resections of atretic bowel and anastomoses and an end sigmoid colostomy. The secondary procedure was a takedown of the colostomy and transanal mucosectomy with a pull-through procedure. Case 2 had type I upper rectal atresia in association with imperforate anus complicated by colon perforation during performance of a distal colostogram leading to a complicated and protracted clinical course. All the patients are currently well with voluntary bowel movements, and one has occasional soiling with follow-up of 9 months to 3 years. CONCLUSIONS: Colon atresia, especially at the level of the upper rectum, is uncommon. Whether to proceed with an ostomy or to individualize the operative procedure according to the location of the atresia is still controversial. Transanal mucosectomy was a useful technique at the time of the definitive pull-through for the treatment of upper rectal atresia. In cases of upper CA associated with imperforate anus, delay in diagnosis and potential complications may result if the diagnosis of upper rectal atresia is missed.

10-year outcome of children born with anorectal malformation, treated by posterior sagittal anorectoplasty, assessed according to the Krickenbeck classification.

BACKGROUND: Anorectal malformations (ARMs) affect 1 in 4000 to 5000 births. The Krickenbeck conference developed a classification based on anatomical and functional criteria to better compare treatment outcome. AIM: The aim of this study is to evaluate the functional outcome in patients 10 years following standardized surgical treatment of ARM related to the Krickenbeck classification. . METHODS: Anatomical anomalies were classified as above. Children and carers were followed closely in a multidisciplinary clinic. Data were collected using a functional outcome questionnaire for a minimum of 10 years after surgical reconstruction. Outcome measurements were related to the Krickenbeck classification. RESULTS: There were 53 children in the study group (29 male, 24 female). Krickenbeck anatomy: perineal fistula, 36%; vestibular fistula, 26%; rectourethral fistula, 36%; rectovesical fistula, 2%. All children were treated by posterior sagittal anorectoplasty. In children with perineal fistula, continence was achieved in 90%. Grade 2 constipation was noted in 21%. One child had a Malone antegrade continence enema (MACE) procedure. In children with vestibular fistula, continence was achieved in 57%. Grade 3 constipation was noted in 28%. One child had grade 1, and one child had grade 2 soiling. Two children had a MACE procedure. In children with rectourethral fistula, continence was achieved in 58%. One child had grade 3 soiling. Grade 3 constipation was found in 42% of children and grade 2 constipation in 1 child. A MACE procedure was performed in 36%. The only child with a bladder neck fistula had a MACE procedure for intractable soiling. CONCLUSIONS: The outcome for patients with ARM is related to the severity of the anomaly. The uniform application of the Krickenbeck classification should allow rational comparison of treatment outcome.

Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome.

Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut. Though HSCR is isolated (nonsyndromic) in most cases, its association with chromosomal aberrations, some congenital anomalies, and a few syndromes has been documented. We report the association of HSCR with Bardet-Biedl syndrome in 2 siblings born to consanguineous Saudi Arabian parents. Both cases were diagnosed during the neonatal period. The first patient had the severe variety of the disease with aganglionosis involving the entire colon and terminal ileum. He died of postoperative complications. The second child had a limited short segment variety of HSCR. For social reasons, the surgical intervention was done only at 5 years of age with no documented complications.

Successful ablation of atrioventricular node reentry tachycardia in a patient with crisscross heart and situs inversus levocardia.

Crisscross heart is a complex congenital anomaly that is rarely seen in the absence of important associated structural defects. We describe a 41-year-old woman with recurrent dizziness and tachycardia but no previous cardiovascular symptoms. Narrow-QRS tachycardia was detected, and magnetic resonance imaging showed situs inversus levocardia with a circulatory pattern typical of crisscross heart. Electrophysiologic study revealed atypical atrioventricular (AV) node reentry tachycardia of the "fast-slow" type. Despite the unusual anatomy, we successfully modified the AV node physiology by ablating the "slow AV node inputs" with the guidance of a multielectrode basket catheter in the anatomic right atrium.

Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome.

PURPOSE: To describe the surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. PATIENTS AND METHODS: Two children with Weill-Marchesani syndrome (4 eyes) undergoing lensectomy, anterior vitrectomy, and sutured intraocular lens (IOL) and Molteno tube shunt surgery at Wills Eye Hospital were prospectively studied. Visual acuity and intraocular pressure (IOP) were recorded. RESULTS: Both patients presented with increasing myopia and advanced glaucomatous damage. Laser iridotomy was ineffective in deepening the anterior chamber. The first patient developed a flat anterior chamber after trabeculectomy. At the 12-month follow-up visit, all 4 eyes had an important decrease in IOP and cupping after combined lensectomy, anterior vitrectomy, and sutured IOL and Molteno tube shunt placement. One eye had a transitory postoperative choroidal effusion and retinal detachment that resolved spontaneously. CONCLUSIONS: Advanced chronic angle closure glaucoma in Weill-Marchesani syndrome may be treated with a combination of lensectomy, anterior vitrectomy, and sutured IOL and Molteno tube shunt surgery. In early cases, prophylactic peripheral iridotomies should be stressed.

Radiographic characteristics of lower-extremity bowing in children.

Lower-extremity bowing is common in infants and children and can result from a variety of conditions. At radiography, developmental bowing shows varus angulation centered at the knee, "metaphyseal beaking," thickening of the medial tibial cortices, and tilted ankle joints. Tibia vara (Blount disease) demonstrates genu varum and depression of the proximal tibia medially. Congenital bowing manifests as posteromedial bowing with cortical thickening along the concavity of the curvature and, in some cases, diaphyseal broadening. In rickets, radiographic changes occur primarily at sites of rapid growth and are predominantly metaphyseal, with widening of the zone of provisional calcification. Achondroplasia is characterized by shortening and thickening of the long bones with metaphyseal flaring and cupping. In neurofibromatosis, there may be anterolateral bowing of the tibia, and there is often focal narrowing and intramedullary sclerosis or cystic change at the apex of the angulation. The tibia is typically involved at the junction of the middle and distal thirds. Osteogenesis imperfecta demonstrates bowing from softening due to osteoporosis and multiple fractures and typically involves the entire skeleton. In camptomelic dysplasia, lower-extremity bowing is associated with a short trunk, short limbs, and deficiencies in pelvic bone development. Recognition of these pathologic conditions is important for differentiating those that will resolve spontaneously from those that require surgery or other treatment.

Central hypoventilation and diaphragmatic eventration: diagnosis and management.

Congenital central alveolar hypoventilation syndrome (CCAHS) is a disorder of ventilatory control that occurs without neuromuscular blockade or pulmonary disease. It is characterized by a lack of response to habitual respiratory stimulants, especially hypercapnia. In this article, the management of this syndrome by diaphragmatic pacing is discussed. Paralysis of the phrenic nerve in small children usually results from injury during birth or during a cardiothoracic operation and results in eventration of the hemidiaphragm. Alternatively, eventration of the diaphragm may be a congenital condition. In both cases it may lead to respiratory distress in the newborn. In this article, we review the diagnosis of these conditions and their management, focusing on the surgical indications. We also discuss outcome.

[Multiple gastrointestinal tract duplication : a neonatal case report]. / Duplication digestive multiple: à propos d'un cas néonatal.

We report the case of newborn with multiple GI tract duplication cysts. Prenatal diagnosis was that of duodenal stenosis. A complete screening for polymalformative syndrome is required in the neonatal period and the authors insist on the importance of US and color Doppler US imaging.

Omphalocele, colonic atresia, and Hirschsprung's disease: an unusual cluster of malformations in a single patient.

Omphalocele, colonic atresia (CA), and Hirschsprung's disease (HD) are individually rare congenital malformations. An association between CA and HD has been described, but the co-occurrence of all three malformations has not been previously reported. We present an infant born with all three malformations and review the management issues relevant to this case, with an emphasis on the importance of considering co-existent HD in any infant born with CA.

[Congenital cystic bile duct dilatation. Presentation of clinical symptoms, diagnostic possibilities and therapy based on 6 cases]. / Angeborene zystische Gallengangerweiterungen. Darstellung der klinischen Symptomatik, der diagnostischen Möglichkeiten und der Therapie anhand von 6 Erkrankungsfällen.

BACKGROUND AND METHODS: Congenital cystic dilatation of the bile ducts represents an uncommon anomaly of the biliary system. We report on 6 patients suffering from cystic biliary duct dilatations which were treated in our hospital between 1980 and 1992. Clinical signs included upper abdominal pain, white or clay-colored stool, icterus and/or palpable tumor. According to the classification of Todani, 4 children had type Ia cysts, 1 child a type Va cyst and 1 child a type Ia cyst with extrahepatic biliary atresia. RESULTS: Among the diagnostic methods sonography is preeminent and permitted demonstration of intra- and extrahepatic biliary duct dilatations in all of our patients. In 2 patients small cystic dilatations could be distinguished from hepatic vessels by colour-coded Doppler sonography. CONCLUSION: The treatment of choice is the resection of the dilated extrahepatic biliary ducts followed by hepaticojejunostomy using the Roux-en-Y-technique.

Malrotation of the intestines in children: the effect of age on presentation and therapy.

Because of the devastating consequences of midgut volvulus as a result of malrotation, we reviewed the charts of 70 consecutive children to define the spectrum of presentation. Although 27 patients (39%) had presenting symptoms within the first ten days of life, 35 (50%) were older than 2 months of age. In general, the older children had a longer course of vague, antecedent symptoms such as intermittent, nonbilious vomiting and chronic abdominal pain. Associated congenital anomalies were common, with 32 patients (46%) presenting with 56 anomalies, the most prevalent of which were intestinal atresia, imperforate anus, duodenal web, and cardiac and orthopedic anomalies. Upper gastrointestinal (GI) series revealed the diagnosis in 29 cases (41%), as did contrast enema in 24 (34%). It is important to note that volvulus, intestinal gangrene, and mortality occurred regardless of age or chronicity of symptoms. Fifteen patients (21%) were discovered serendipitously while being evaluated and treated for seemingly unrelated conditions. No morbidity of mortality occurred in those patients who underwent subsequent semielective Ladd's procedure. The majority of morbidity and all seven mortalities occurred in patients with volvulus and intestinal necrosis. This study emphasizes the need for consideration of Ladd's procedure for children of all ages. In addition, due to the broad range of initial symptoms, a high index of suspicion is required in evaluating children with possible malrotation. Because it remains impossible to predict which patients will have catastrophic complications (based on age or type of presentation), we urge that even incidentally discovered patients with intestinal malrotation undergo Ladd's procedure.

Focal ectasia of the terminal bowel accompanying low anal deformities.

Three patients were treated at birth for low anal deformities and developed intractable constipation, not imputable to usual causes of rectal inertia. Barium enema, done the first time at ten days of age in one case, revealed focal ectasia of the terminal bowel, with a peculiar "balloon-like" aspect of the rectum. Optimal treatment includes resection of the terminal bowel down to the dentate line. Incidence of this anomaly in association with low anal deformities has been 5% in our series.

Congenital rectovesical fistula in the absence of imperforate anus.

Two neonates with multiple congenital anomalies presented with contamination of the urinary tract with fecal organisms. Both patients had normal anorectal areas but in both, a work-up of the urinary tract infection including cystogram and barium enema revealed a rectovesical fistula. This is highly unusual and as far as can be determined, no reports similar to this could be found. Patient 1 succumbed from severe cardiovascular disease after colostomy so that no further diagnostic or therapeutic measures could be taken. Patient 2 underwent sigmoid colostomy to divert the fecal contamination of the bladder. He then underwent successful surgical division of the rectovesical fistula from an abdominal approach and subsequently had his colostomy closed. Intraoperatively, a catheter placed in the fistula via the rectum was quite helpful in identification of the fistula. This very unique lesion in this second patient was one of a constellation of anomalies including megalourethra, epispadiac urethral fistula, undescended testes, bilaterally, a floppy lower abdominal wall, and absent left kidney. This patient could be construed as a variant of the prune belly syndrome.