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1.
Sleep Breath ; 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38842644

RESUMEN

PURPOSE: Patients with syndromic hemifacial microsomia (SHFM) are at risk of obstructive sleep apnea (OSA). The aim of the study was to describe the prevalence of OSA and its management, especially in patients with Goldenhar syndrome (GS). METHODS: The respiratory polygraphies and clinical management of 15 patients, aged 2 to 23 years, evaluated at a national reference center, were analyzed. RESULTS: Four (27%) patients had no OSA, 4 (27%) had mild OSA, and 7 (46%), of whom 5 were ≤ 2 years old, had severe OSA. None of the patients had central apneas. Only one patient had alveolar hypoventilation, and another one had nocturnal hypoxemia. Two patients had severe OSA despite prior adenoidectomy or mandibular distraction osteogenesis. Median duration of follow-up was 3.5 years (range 0.5-9 years). None of the patients without OSA or with mild OSA at baseline respiratory polygraphy developed OSA during the follow up. Among the 7 patients with severe OSA, 3 required continuous positive airway pressure or noninvasive ventilation, and one patient required a tracheostomy. CONCLUSION: In conclusion, patients with SHFM are at high risk of severe OSA at any age, underlining the importance of systematic sleep studies to diagnose and evaluate the severity of OSA. Individualized treatment should be privileged, based on a careful examination of the entire upper airway, taking in account potential associated risk factors. All patients with SHFM should be managed by a pediatric expert multidisciplinary medical/surgical team until the end of post pubertal growth.

2.
Ann Surg ; 278(5): e932-e938, 2023 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-36692109

RESUMEN

OBJECTIVE: To report one-year morbidity of robotic-assisted laparoscopic surgery (RALS) in a dedicated, multidisciplinary, pediatric robotic surgery program. Summary Background Data. RALS in pediatric surgery is expanding, but data on morbidity in children is limited. METHODS: All children who underwent RALS (Da Vinci Xi, Intuitive Surgical, USA) were prospectively included (October 2016 to May 2020; follow-up ≥1 year). Analyzed data: patient characteristics, surgical indication/procedure, intraoperative adverse events (ClassIntra classification), blood transfusion, hospital stay, postoperative complications (Clavien-Dindo). RESULTS: Three hundred consecutive surgeries were included: urology/gynecology (n=105), digestive surgery (n=83), oncology (n=66), ENT surgery (n=28), thoracic surgery (n=18). Median age and weight at surgery were 9.5 [interquartile range (IQR)=8.8] years and 31 [IQR=29.3] kg, respectively. Over one year, 65 (22%) children presented with ≥1 complication, with Clavien-Dindo ≥III in 14/300 (5%) children at ≤30 days, 7/300 (2%) at 30-90 days, and 12/300 (4%) at >90 days. Perioperative transfusion was necessary in 15 (5%) children, mostly oncological (n=8). Eight (3%) robotic malfunctions were noted, one leading to conversion (laparotomy). Overall conversion rate was 4%. ASA ≥3, weight ≤15 kg, and surgical oncology did not significantly increase the conversion rate, complications, or intraoperative adverse events (ClassIntra ≥2). ASA score was significantly higher in children with complications (Clavien-Dindo ≥III) than without (p=0.01). Median hospital stay was 2 [IQR=3] days. Three children died after a median follow-up of 20 [IQR=16] months. CONCLUSIONS: RALS is safe, even in the most vulnerable children with a wide scope of indications, age, and weight. Robot-specific complications or malfunctions are scarce.


Asunto(s)
Laparoscopía , Procedimientos Quirúrgicos Robotizados , Robótica , Humanos , Niño , Procedimientos Quirúrgicos Robotizados/efectos adversos , Procedimientos Quirúrgicos Robotizados/métodos , Robótica/métodos , Estudios Prospectivos , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Laparoscopía/métodos , Morbilidad , Estudios Retrospectivos , Resultado del Tratamiento
3.
Dev Med Child Neurol ; 65(2): 215-222, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-35765978

RESUMEN

AIM: To compare paediatric patients with cerebral sinovenous thrombosis (CSVT) with and without head/neck infection to improve management of the condition. METHOD: We conducted a bicentric retrospective study of consecutive children (neonates excluded) with radiologically confirmed CSVT, comparing children with a concurrent head/neck infection and children with other causes. RESULTS: A total of 84 consecutive patients (46 males and 38 females) with a median age of 4 years 6 months (range 3 months-17 years 5 months) were included. Associated head/neck infection was identified in 65.4% of cases and represented the main identified CSVT aetiology. Children in the head/neck infection group displayed a milder clinical presentation and less extensive CSVT. Median time to complete recanalization was significantly shorter in this group (89 days [interquartile range 35-101] vs 112.5 days [interquartile range 83-177], p = 0.005). These findings were even more pronounced in the subgroup of patients with otogenic infection and no neurological sign. INTERPRETATION: As CSVT in the setting of an otogenic infection and no neurological sign seems to represent a milder condition with a shorter course, these results suggest adapting current recommendations: consider earlier control imaging in paediatric otogenic CSVT, and shorter anticoagulant treatment if recanalization is obtained. WHAT THIS PAPER ADDS: Children with cerebral sinovenous thrombosis related to head/neck infections have a milder clinical presentation. They also have a shorter recanalization time, especially if there is otogenic infection without neurological symptoms.


Asunto(s)
Trombosis de los Senos Intracraneales , Trombosis de la Vena , Niño , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Factores de Riesgo , Trombosis de los Senos Intracraneales/complicaciones , Trombosis de los Senos Intracraneales/diagnóstico por imagen , Trombosis/complicaciones
4.
Am J Otolaryngol ; 44(2): 103749, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36577169

RESUMEN

INTRODUCTION: Bilateral choanal atresia (CA) is a rare congenital anomaly, that causes neonatal respiratory distress. No consensus exists regarding the most appropriate surgical approach in low-birth weight preterm infants. CASE REPORT: We present (with video) the case of a male born at 29 weeks' gestation, 1200 g, affected by bilateral CA. He was successfully treated with an endoscopic transnasal approach performed on day 4 of life which allowed a very early extubation. Otologic instruments and 2.7 mm wide endoscope were used to be able to operate in very narrow nasal cavities. Thulium LASER® was used to limit bleeding. At the follow-up visit, four months after surgery, the neochoana was widely patent. DISCUSSION: In low-birth weight preterm infants, endoscopic transnasal surgery (ETS) may be considered technically not feasible or with a high risk of early restenosis. With early ETS, we were able to avoid the morbidity of a prolonged intubation and sedation. CONCLUSION: Bilateral CA is a life threatening and challenging clinical entity, particularly difficult to treat in low-birth preterm infants. Early surgery to reduce intubation and sedation is preferable, but requires experienced teams with a surgical technique and instruments tailored to the narrowness of the nasal cavity.


Asunto(s)
Atresia de las Coanas , Lactante , Humanos , Recién Nacido , Masculino , Atresia de las Coanas/cirugía , Peso al Nacer , Resultado del Tratamiento , Recien Nacido Prematuro , Nariz/cirugía , Endoscopía/métodos , Stents
5.
Int J Audiol ; 62(6): 592-598, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-35533092

RESUMEN

OBJECTIVE: Hearing loss can seriously impact children's quality of life. Disease-specific questionnaires are required to optimise medical care. This study aims to translate, adapt and validate the French version of the PEACH score for the auditory performance of children. DESIGN: This is a controlled, prospective study, conducted between April and October 2020. The translation was conducted using a forward-backward technique, and statistical validation was conducted with a test and re-test, on a patient population and a control population. STUDY SAMPLE: Patients were included if they were 1-11 years old, and had at least 30 dB hearing loss in one ear. The mean age was 6 years for the 39 patients and 3.9 years for the 34 controls. RESULTS: Reproducibility, measured by Spearman's coefficient between global scores of the test and re-test was 0.78 (p < 0.001). The test was internally consistent (Cronbach's alpha was 0.89) and item per item construct validity was satisfactory. The ROC curve showed a moderate area under the curve (0.74 p < 0.001) with 67% sensitivity and 73% specificity. CONCLUSIONS: The French PEACH had good statistical properties, although a brief 13-item questionnaire, and can be used for evaluation of the disease-specific quality of life for young children with hearing loss.


Asunto(s)
Sordera , Pérdida Auditiva , Humanos , Niño , Preescolar , Lactante , Calidad de Vida , Reproducibilidad de los Resultados , Estudios Prospectivos , Pérdida Auditiva/diagnóstico , Padres , Encuestas y Cuestionarios , Psicometría
6.
Int J Audiol ; 62(8): 738-746, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-35671326

RESUMEN

OBJECTIVES: Hearing loss can seriously impact children's daily life. This study aims to translate and validate the French versions of the hearing performance questionnaires, SSQ-Parent (for 5-18 years old children), and SSQ-Children (for 11-18 years old children). DESIGN: This controlled prospective trial was conducted between April and October 2020. The forward-backward translation method was used, and a test-retest procedure was carried out on a case and a control population. Cases had at least 30 dBHL hearing loss. STUDY SAMPLE: 54 cases (mean age 10.4 years old) and 32 controls (mean age 12.5 years old) answered the SSQ-Parent. 35 cases (mean age 13.1 years old) and 35 controls (mean age 14.3 years old) answered the SSQ-Children. RESULTS: Spearman's correlation coefficients between global scores of the test and re-test were 0.91 (p < 0.001) for SSQ-Parent, and 0.89 (p < 0.001) for SSQ-Children. Both tests were discriminant (respectively, global score 57.8 vs 92 p < 0.001, 61.2 vs 92.6 p < 0.001), and internally consistent (Cronbach's alpha 0.94 and 0.97). Items-global score correlation was satisfactory. ROC curves showed high area under curve for the SSQ-Children (0.990), and SSQ-Parent (0.988). CONCLUSION: The SSQ-Parent and SSQ-Children revealed excellent statistical properties, and can be used for the evaluation of hearing performance of children.


Asunto(s)
Sordera , Pérdida Auditiva , Percepción del Habla , Adolescente , Niño , Preescolar , Humanos , Audición , Pérdida Auditiva/diagnóstico , Padres , Estudios Prospectivos , Calidad de Vida , Habla , Encuestas y Cuestionarios
7.
Am J Med Genet A ; 188(7): 1964-1971, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35278041

RESUMEN

The relationship between neurofibromatosis type 1 (NF1) and sleep-disordered breathing (SDB) has not been widely studied. The aim of the study was to analyze SDB in children with NF1 of the respiratory system. All children with NF1 followed between September 2008 and July 2020 who had a respiratory polygraphy (RP) were included. The clinical charts, cerebral and cervical magnetic resonance imaging (MRI), and RP were analyzed. Twenty-two patients (11 girls, median age at RP 8.3 [0.2-18.2] years) were included in the study. Nine patients (41%) had a NF1 involvement of the upper airways, 13 (59%) patients of the central nervous system (CNS), the cranial nerves (CN) and/or medulla, and 17 (77%) patients had a hypertrophy of the adenoids and/or tonsils. Five patients were treated with Continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) before their first evaluation because of severe obstructive sleep apnea (OSA). Accordingly, 10 (45%) patients had no OSA, one (5%) mild OSA, 2 (9%) moderate OSA, and nine (41%) severe OSA. None of the patients had central sleep apnea. Despite upper airway surgery, three patients required CPAP, two could be weaned and one died after a switch to tracheostomy. None of the patients treated with CPAP/NIV could be weaned, one patient required tracheostomy. Neither the clinical nor the MRI findings were able to predict OSA on a RP. The prevalence of OSA in NF1 is high, regardless of the nature of airway obstruction and the clinical and MRI findings, underlining the value of a systematic RP. CPAP may reduce the need of tracheostomy.


Asunto(s)
Neurofibromatosis 1 , Síndromes de la Apnea del Sueño , Apnea Central del Sueño , Apnea Obstructiva del Sueño , Niño , Presión de las Vías Aéreas Positiva Contínua/métodos , Femenino , Humanos , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/terapia , Síndromes de la Apnea del Sueño/diagnóstico , Síndromes de la Apnea del Sueño/epidemiología , Síndromes de la Apnea del Sueño/terapia , Apnea Central del Sueño/diagnóstico , Apnea Central del Sueño/epidemiología , Apnea Central del Sueño/etiología , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/epidemiología
8.
Eur J Pediatr ; 181(2): 647-652, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34498170

RESUMEN

To assess the quantitative and qualitative impact of the COVID-19 lockdown on pediatric otolaryngology emergency activity. A retrospective study was conducted in a pediatric otolaryngology tertiary care center. Emergency activity during the lockdown period from March 17 to May 11, 2020, was compared to the 2019 and 2018 averages for the same period. Study data included a number of emergency consultations and the number and type of surgical procedures: infection management, endoscopic airway procedure, and post-tonsillectomy hemorrhage. Only 350 children were referred to the pediatric otolaryngology emergencies in our center during the lockdown, compared to 761 on the same period the year before (- 54%); 62 emergency surgeries were performed, compared to 93 (- 33%). The ratio between emergency surgeries and consultations was 18% in 2020, versus 12% previously (p = 0.014). The number of surgical procedures for infectious diseases decreased (- 68%), at 16% of surgical emergencies in 2020 compared to 33% previously (p = 0.017). In 2020, 52 emergency endoscopies were performed, versus 59 previously (- 12%), 27% being performed for suspected tracheobronchial or esophageal foreign bodies, compared to 66% in previous years (p < 0.0001). No post-tonsillectomy hemorrhages were managed in 2020.Conclusion: The COVID-19 lockdown changed pediatric ENT emergency activity quantitatively and also qualitatively. What is Known: • SARS-CoV-2 pandemic impacted pediatric ENT emergency activity quantitatively and qualitatively. What is New: • here was a 54% decrease in pediatric ENT emergency consultation and 33% decrease in emergency ENT surgeries. • Rates of surgery for infection of whatever type decreased by 68%.


Asunto(s)
COVID-19 , Otolaringología , Niño , Control de Enfermedades Transmisibles , Servicio de Urgencia en Hospital , Humanos , Estudios Retrospectivos , SARS-CoV-2
9.
Am J Med Genet A ; 185(7): 2108-2118, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33908178

RESUMEN

Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020. Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 ADO, 4 GD, 3 AD, and 8 SCD). Sixteen patients had obstructive sleep apnea (OSA): 11 patients (2 with SEDC, 1 with SEMD, 1 with ADO, 1 with GD, 2 with AD, and 4 with SCD) had mild OSA, 2 (1 SEMD and 1 GD) had moderate OSA, and 3 (1 SEDC, 1 MD, 1 SEMD) had severe OSA. Adenotonsillectomy was performed in one patient with SCD and mild OSA, and at a later age in two other patients with ADO and AD. The two patients with moderate OSA were treated with noninvasive ventilation (NIV) because of nocturnal hypoxemia. The three patients with severe OSA were treated with adenotonsillectomy (1 SEDC), adeno-turbinectomy and continuous positive airway pressure (CPAP; 1 MD), and with NIV (1 SEMD) because of nocturnal hypoventilation. OSA and/or alveolar hypoventilation is common in patients with skeletal dysplasias, underlining the importance of systematic screening for SDB. CPAP and NIV are effective treatments for OSA and nocturnal hypoventilation/hypoxemia.


Asunto(s)
Disostosis/congénito , Discapacidad Intelectual/terapia , Osteocondrodisplasias/congénito , Costillas/anomalías , Síndromes de la Apnea del Sueño/terapia , Apnea Obstructiva del Sueño/terapia , Columna Vertebral/anomalías , Adenoidectomía , Adolescente , Adulto , Niño , Preescolar , Presión de las Vías Aéreas Positiva Contínua/métodos , Disostosis/diagnóstico por imagen , Disostosis/patología , Disostosis/terapia , Femenino , Humanos , Lactante , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/patología , Masculino , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/patología , Osteocondrodisplasias/terapia , Polisomnografía , Costillas/diagnóstico por imagen , Costillas/patología , Síndromes de la Apnea del Sueño/diagnóstico por imagen , Síndromes de la Apnea del Sueño/patología , Apnea Obstructiva del Sueño/diagnóstico por imagen , Apnea Obstructiva del Sueño/patología , Columna Vertebral/diagnóstico por imagen , Columna Vertebral/patología , Tonsilectomía , Resultado del Tratamiento , Adulto Joven
10.
Am J Med Genet A ; 182(1): 122-129, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31680459

RESUMEN

Upper airway obstruction is a common feature in pycnodysostosis and may cause obstructive sleep apnea (OSA). The aim of our study was to analyze sleep-disordered breathing and respiratory management in children with pycnodysostosis. A retrospective review of the clinical charts and sleep studies of 10 consecutive children (three girls and seven boys) with pycnodysostosis seen over a time period of 10 years was performed. Six patients had severe OSA and/or nocturnal hypoventilation and were started on continuous positive airway pressure (CPAP) as a first treatment at a median age of 3.4 ± 2.6 years, because of the lack of indication of any surgical treatment. Three patients could be weaned after several years from CPAP after spontaneous improvement (two patients) or multiple upper airway surgeries (one patient). Three patients had upper airway surgery prior to their first sleep study with two patients still needing CPAP during their follow-up. Only one patient never developed OSA. Patients with pycnodysostosis are at a high risk of severe OSA, underlying the importance of a systematic screening for sleep-disordered breathing. Multidisciplinary care is mandatory because of the multilevel airway obstruction. CPAP is very effective and well accepted for treating OSA.


Asunto(s)
Picnodisostosis/fisiopatología , Síndromes de la Apnea del Sueño/fisiopatología , Apnea Obstructiva del Sueño/fisiopatología , Niño , Preescolar , Presión de las Vías Aéreas Positiva Contínua/métodos , Femenino , Humanos , Lactante , Masculino , Polisomnografía , Picnodisostosis/complicaciones , Picnodisostosis/cirugía , Síndromes de la Apnea del Sueño/complicaciones , Síndromes de la Apnea del Sueño/cirugía , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/cirugía
11.
Pediatr Blood Cancer ; 67(4): e28154, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31930719

RESUMEN

BACKGROUND: Esthesioneuroblastoma (ENB) is a rare neuroectodermal tumor that seldom occurs during childhood. Multimodal treatments are currently proposed, but the place of each therapy is still in debate. Our objective is to describe clinical evolution, especially the pattern of relapses and determine contributors to tumor progression. PROCEDURE: Medical charts of all children (≤18 years) affected by ENB treated in France from January 1990 to December 2015 were retrospectively analyzed. RESULTS: Eighteen patients were selected (10 males). Median age at diagnosis was 12.2 years (0.9-18). Tumor extension was Kadish stage A (n = 1), B (n = 3), C (n = 10), and D (n = 4). Hyams histological grades were I (n = 1), II (n = 3), III (n = 6), and IV (n = 6) (in two cases not defined). Initial cervical nodal spread was assessed by magnetic resonance imaging (n = 15), computed tomography scan (n = 16), fluorodeoxyglucose-positron emission tomography-computed tomography (n = 7), and cytological/histological analysis (n = 2). N1 stage was confirmed by imaging in two of 18 cases and one of two cases had cervical node dissection with neck irradiation (58 Gy). After a median follow-up of survivors of 7.6 years (3.8-17.9), 10 patients developed neuromeningeal progression, whereas no cervical nodal relapse occurred and only eight survived. Both 5-year overall and event-free survival rates were 44.4% (±11.7%). CONCLUSIONS: The poor prognosis is mainly related to neuromeningeal dissemination that should be considered during treatment strategy. However, cervical lymph node relapse is rare.


Asunto(s)
Estesioneuroblastoma Olfatorio/patología , Cavidad Nasal/patología , Recurrencia Local de Neoplasia/patología , Neoplasias Nasales/patología , Enfermedades Raras/patología , Adolescente , Niño , Preescolar , Terapia Combinada , Estesioneuroblastoma Olfatorio/terapia , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Recurrencia Local de Neoplasia/terapia , Neoplasias Nasales/terapia , Pronóstico , Enfermedades Raras/terapia , Estudios Retrospectivos , Tasa de Supervivencia
12.
Paediatr Anaesth ; 30(4): 435-445, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-31995659

RESUMEN

BACKGROUND: Knowledge about airway dimensions during child growth is of paramount importance for pediatric clinical practice. Decisions about airway management in children are based on relatively limited, imprecise, or incomplete data about airway size. AIMS: The aim of this work was to determine the anatomical development and size of airway structures from birth to adolescence using high-resolution computed tomography scans and to study the correlation between airway measurements and biometric data. METHODS: We conducted a retrospective study of all high-resolution computed tomography scans including the respiratory tract, performed in our tertiary pediatric center (for reasons unrelated to airway symptoms) between June 1, 2016, and October 15, 2017, on children aged from 1 day to 14 years old. On each scan, 23 measurements of the larynx, trachea, and mainstem bronchi were performed. Patients were stratified into 16 groups according to their age. We calculated median value for each measurement in each group. Statistical models were calculated to explore correlation between measurements and age or weight. RESULTS: A total of 192 scans were included (127 boys/65 girls). The mean age was 7 years. The correlations between airway measurements and age or weight were always significant. The relationship between measurements and age was found to be suitably represented by a cubic polynomial equation suggesting that the airway has a rapid growth phase in the first 3 years, followed by a slow growth phase and a second rapid growth phase during adolescence. The most relevant biometric parameter was age concerning 21 of the measurements. CONCLUSION: This comprehensive anatomical database of upper airway dimensions provides important data in the field of pediatric airway anatomy, particularly relating to the cricoid. We demonstrated that laryngeal, tracheal, and bronchial parameters correlate better to age and have three different growth phases.


Asunto(s)
Pesos y Medidas Corporales , Bronquios/anatomía & histología , Laringe/anatomía & histología , Tomografía Computarizada por Rayos X/métodos , Tráquea/anatomía & histología , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos
13.
Pediatr Dermatol ; 37(6): 1128-1130, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32770747

RESUMEN

We report the case of a 5-year-old girl with congenital right-sided facial hemihypertrophy and right hemi-macroglossia with lingual mucosal neuromas. The segmental presentation of findings suggested the diagnosis of congenital infiltrating lipomatosis of the face (CILF), which belongs within the PIK3CA-related overgrowth spectrum (PROS). This was confirmed by genetic analysis showing a mosaic mutation in PIK3CA H1047R. CILF/PROS should be considered in the differential diagnosis of mucosal neuromas.


Asunto(s)
Lipomatosis , Neuroma , Preescolar , Fosfatidilinositol 3-Quinasa Clase I/genética , Cara , Asimetría Facial , Femenino , Humanos , Mutación
14.
Am J Med Genet A ; 179(7): 1196-1204, 2019 07.
Artículo en Inglés | MEDLINE | ID: mdl-31038846

RESUMEN

Mucolipidosis (ML) is a rare lysosomal storage disorder with a wide spectrum of disease severity according to the type. Sleep-disordered breathing is recognized as a characteristic feature of ML but objective data are scarce. The aim of the study was to describe sleep data and medical management in children with ML α/ß. All patients with ML α/ß followed at a national reference center of ML were included. Five patients had ML II, one patient had ML III and one patient had ML II-III. One patient was started on noninvasive ventilation (NIV) to allow extubation after prolonged invasive mechanical ventilation. The six other patients underwent sleep study at a median age of 1.8 years (range 4 months-17.4 years). Obstructive sleep apnea (OSA) was observed in all patients with a median apnea-hypopnea index (AHI) of 36 events/hr (range 5-52) requiring continuous positive airway pressure (CPAP) or NIV. CPAP/NIV resulted in an improvement of nocturnal gas exchange and was continued in all patients with an excellent compliance. Two patients died. Systematic sleep studies are recommended at time of diagnosis in ML. CPAP or NIV are effective treatments of OSA, well tolerated, and may contribute to improve the quality of life of patients and caregivers.


Asunto(s)
Presión de las Vías Aéreas Positiva Contínua/métodos , Mucolipidosis/fisiopatología , Mutación , Ventilación no Invasiva/métodos , Apnea Obstructiva del Sueño/fisiopatología , Transferasas (Grupos de Otros Fosfatos Sustitutos)/genética , Adolescente , Niño , Preescolar , Manejo de la Enfermedad , Femenino , Expresión Génica , Humanos , Lactante , Masculino , Mucolipidosis/complicaciones , Mucolipidosis/genética , Mucolipidosis/terapia , Cooperación del Paciente , Polisomnografía , Calidad de Vida , Índice de Severidad de la Enfermedad , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/genética , Apnea Obstructiva del Sueño/terapia , Transferasas (Grupos de Otros Fosfatos Sustitutos)/deficiencia , Resultado del Tratamiento
15.
J Pediatr Hematol Oncol ; 40(4): 320-324, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29016414

RESUMEN

We present the case of a woman referred to our department at 34 weeks of pregnancy with a fetal ultrasonographic scan showing a mass that had developed within the right maxilla with invasion of the orbit. A retrospective examination showed that this tumor had been present since the 12th week of pregnancy. At 39+4 weeks of gestation, a boy was born. He presented a black firm aspect in the maxilla. A computed tomographic scan and magnetic resonance imaging revealed a soft tissue swelling over the right maxilla, extending into the orbit but without invasion of the globe. Surgical biopsy confirmed a melanotic neuroectodermal tumor of infancy. The pathologic examination did not show any neuroblast-like component on the hematoxylin eosin saffron staining. Because of the extension and the size of the lesion, neoadjuvant chemotherapy was carried out. At day 21, the patient received 1 cycle of low-dose cyclophosphamide and vincristine, 2 cycles of etoposide and carboplatin, and thereafter 1 cycle of cyclophosphamide, adriamycin, and vincristin because the lesion kept growing. After stabilization of the size of the tumor, at 4 months, a maxillectomy and partial resection of the orbital floor and lateral orbital wall was performed on the patient. As a complete resection would have required orbital exenteration, surgery was performed deliberately incomplete leaving a macroscopic residue (R2). At 2.5 years of follow-up, the patient showed complete remission with no lesions evident on magnetic resonance imaging.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Enfermedades Fetales/terapia , Enfermedades del Recién Nacido/terapia , Tumor Neuroectodérmico Melanótico/terapia , Neoplasias Orbitales/terapia , Adulto , Carboplatino/administración & dosificación , Ciclofosfamida/administración & dosificación , Doxorrubicina/administración & dosificación , Etopósido/administración & dosificación , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/patología , Humanos , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico por imagen , Enfermedades del Recién Nacido/patología , Masculino , Tumor Neuroectodérmico Melanótico/diagnóstico por imagen , Tumor Neuroectodérmico Melanótico/patología , Neoplasias Orbitales/diagnóstico por imagen , Neoplasias Orbitales/patología , Embarazo , Vincristina/administración & dosificación
16.
Am J Med Genet A ; 173(4): 868-878, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28239978

RESUMEN

Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 ± 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA). Thirteen children had an obstructive apnea-hypopnea index (OAHI) < 5/hr, four had an OAHI between 5 and 10/hr, and seven had an OAHI ≥ 10/hr. Ten of the 15 children who had previous upper airway surgery still had an abnormal P(S)G. All the patients with an AHI ≥ 10/hr were under 7 years of age and none had a prior tonsillectomy. The children who underwent adeno-tonsillectomy, coupled in most cases with turbinectomy, were significantly older (mean age 7.5 ± 3.5 vs. 3.5 ± 1.7 years old, P = 0.015) and had significantly better P(S)G results than those who underwent only adeno-turbinectomy. No correlation was observed between the mean AHI value at the baseline P(S)G and the type of academic course (standard, supported or specialized). In conclusion, OSA is common in children with achondroplasia. The observation of a reduced prevalence of OSA after (adeno-)tonsillectomy is in favor of this type of surgery when possible.


Asunto(s)
Acondroplasia/cirugía , Adenoidectomía/estadística & datos numéricos , Apnea Central del Sueño/cirugía , Apnea Obstructiva del Sueño/cirugía , Tonsilectomía/estadística & datos numéricos , Acondroplasia/complicaciones , Acondroplasia/patología , Acondroplasia/fisiopatología , Niño , Preescolar , Manejo de la Enfermedad , Femenino , Humanos , Lactante , Masculino , Polisomnografía , Estudios Retrospectivos , Apnea Central del Sueño/complicaciones , Apnea Central del Sueño/patología , Apnea Central del Sueño/fisiopatología , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/patología , Apnea Obstructiva del Sueño/fisiopatología
17.
Audiol Neurootol ; 22(2): 83-88, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28738350

RESUMEN

OBJECTIVE: Unilateral sensorineural hearing loss (USNHL) is known to impact on school performance and social skills during childhood, but the etiologies remain unclear. The aim of this study was to assess various etiologies and to study the clinical contexts in this population. METHODS: The study is a retrospective review. Characteristics of hearing loss (HL), audiometric parameters, imaging, and genetic and medical contexts were analyzed. RESULTS: Eighty children were included. USNHL was profound in 68%, could be progressive in 19%, and become bilateral in 7.5% of cases. Inner ear malformations were identified in 41% of cases; cochlear nerve deficiency (CND) was frequent (33%). Cytomegalovirus (CMV) infection and genetic syndromes were confirmed in 10 and 6% of cases, respectively. CONCLUSION: Long-term hearing follow-up remains useful in USNHL as it can become bilateral. Looking to etiology, MRI should be the gold standard, as CND is frequently observed and screening for CMV infection should be systematic. Genetic etiologies appear to be different compared to bilateral HL. Further genetic research in this domain is needed.


Asunto(s)
Nervio Coclear/anomalías , Infecciones por Citomegalovirus/complicaciones , Pérdida Auditiva Sensorineural/etiología , Pérdida Auditiva Unilateral/etiología , Malformaciones del Sistema Nervioso/complicaciones , Adolescente , Audiometría , Niño , Preescolar , Cóclea/anomalías , Cóclea/diagnóstico por imagen , Anomalías Congénitas/diagnóstico por imagen , Infecciones por Citomegalovirus/congénito , Progresión de la Enfermedad , Femenino , Pérdida Auditiva Sensorineural/diagnóstico por imagen , Pérdida Auditiva Sensorineural/epidemiología , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Unilateral/diagnóstico por imagen , Pérdida Auditiva Unilateral/epidemiología , Pérdida Auditiva Unilateral/genética , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X , Enfermedades Vestibulares/complicaciones
20.
Eur Radiol ; 25(1): 239-45, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25163899

RESUMEN

OBJECTIVES: The purpose of this study was to evaluate the clinical efficacy and safety of endovascular treatment (EVT) compared with iterative surgery (IS) in paediatric patients with secondary post-tonsillectomy haemorrhage (PTH) refractory to surgical haemostasis (SH). METHODS: We retrospectively identified 424 consecutive children with secondary PTH. PTH ceased spontaneously in 215 patients, but SH was required in the remaining patients, failing in 15 cases. In these 15 children, we analyzed the benefit of EVT by comparing the outcomes of the nine patients who underwent IS with the six children who underwent an EVT. RESULTS: After a first attempt at surgical haemostasis failed, the success rate of additional surgical procedures was 50% for the second procedures (6/12) and 67% (2/3) for the third. Conversely, EVT was always successful, even though no vascular source of bleeding was found in any patient. EVT did not elicit any complications. Moreover, it tended to reduce the hospitalization duration and the number of red blood cell transfusions. CONCLUSIONS: In the event of failure of the first attempt at surgical haemostasis in the presence of secondary PTH, our study suggests that in most instances, endovascular treatment is preferred to iterative surgical haemostasis, even if no vascular source of bleeding is found. KEY POINTS: • In recurrent secondary post-tonsillectomy haemorrhage, the rate of success declined with additional surgery. • Endovascular treatment was always successful and did not elicit any complications. • Embolization was useful even if no source of bleeding was found. • Embolization tended to reduce hospitalization duration and red blood cell transfusions. • Embolization may be considered as an alternative option to iterative surgery.


Asunto(s)
Embolización Terapéutica/métodos , Hemorragia Posoperatoria/terapia , Tonsilectomía/efectos adversos , Niño , Femenino , Estudios de Seguimiento , Hemostasis Quirúrgica , Humanos , Masculino , Recurrencia , Estudios Retrospectivos , Resultado del Tratamiento
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