Omphalocele and macroglossia: a case of Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder which predisposes to tumor development. The following case study examined a prenatal finding of omphalocele with postnatal findings of macroglossia and cutaneous hemangioma, ultimately leading to a diagnosis of BWS. This case highlighted the features of BWS, the diagnostic principles and the importance of a multidisciplinary team approach to its management.

Abordagem interdisciplinar no tratamento da macroglossia na síndrome de Beckwith-Wiedemann: relato de caso / Interdisciplinary approach in the treatment of macroglossia in Beckwith-Wiedemann syndrome: case report

RESUMO O objetivo deste estudo foi relatar a abordagem interdisciplinar no manejo da macroglossia em um caso de paciente com síndrome de Beckwith-Wiedemann, no período de dez anos. O acompanhamento iniciou pela equipe de Cirurgia Bucomaxilofacial, seguido da Fonoaudiologia, em função de dificuldades alimentares. Após avaliação clínica e instrumental, aos 8 meses de idade, iniciou-se a intervenção fonoaudiológica com foco na disfagia orofaríngea e na terapia miofuncional orofacial. Foi verificado, com 1 ano e 11 meses, ausência de sinais de alteração de deglutição em fase faríngea e melhora na postura de lábios e língua. Aos 3 anos, foram iniciados estímulos para retirada dos hábitos orais e o treino da função mastigatória. O tratamento ortodôntico para correção de mordida aberta anterior e mordida cruzada posterior unilateral iniciou-se aos 6 anos. Aos 7 anos e 5 meses de idade, constatou-se estabilidade do modo respiratório nasal e adequação da postura de repouso de lábios e língua. Aos 9 anos, em função de recidiva das alterações oclusais, optou-se pela redução cirúrgica da língua seguida de terapia miofuncional orofacial, retomada aos 9 anos e 3 meses. O resultado foi a correção da postura da língua na deglutição e a adequação da fala. A associação dos tratamentos, envolvendo Fonoaudiologia, Ortodontia e Cirurgia Bucomaxilofacial foi considerada efetiva no manejo da macroglossia, resultando na adequação e equilíbrio das funções orofaciais.

ABSTRACT This study aims to report the interdisciplinary management of macroglossia in a Beckwith-Wiedemann syndrome patient during ten years. Clinical follow-up started by the Oral and Maxillofacial Surgery team, followed by Speech Therapy due to feeding difficulties. After clinical and instrumental evaluation, at 8 months old, the speech therapy intervention was indicated, focusing on oropharyngeal dysphagia and orofacial myofunctional therapy. At 1 year and 11 months, no signs of swallowing alteration in the pharyngeal phase and improvement in the posture of the lips and tongue were found. At the age of 3, stimulation to remove oral habits and train masticatory function were initiated. Orthodontic treatment to correct anterior open bite and unilateral posterior crossbite started at age 6. At 7 years and 5 months, there was stability in the nasal breathing mode and adequacy of resting posture of lips and tongue. At the age of 9, due to relapse of the occlusal alterations, surgical reduction of the tongue was indicated, followed by orofacial myofunctional therapy, restarted at the age of 9 years and 3 months. The result was the correction of the posture of the tongue during swallowing and speech adequacy. The association of treatments involving Speech Therapy, Orthodontics and Oral and Maxillofacial Surgery was considered effective in the management of the macroglossia. It resulted in the adequacy and equilibrium of orofacial functions.

Glosoplastía con Técnica de Harada, en un Paciente con Macroglosia por Amiloidosis

RESUMEN: La Macroglosia, corresponde a un cuadro caracterizado por un aumento de tamaño lingual, pudiendo causar alteraciones estéticas y funcionales, llegando incluso a comprometer la vía aérea. Es una de las manifestaciones temprana de la amiloidosis, que a su vez se encuentra asociada a algunos casos de Mieloma Múltiple. Se presenta caso clínico de paciente sexo masculino de 73 años de edad, que presenta macroglosia en servicio de Cirugía Maxilofacial del Hospital del Carmen Maipú, Santiago de Chile. Donde se determinó que la macroglosia estaba en contexto de una amiloidosis, se describe diagnóstico y tratamiento quirúrgico realizado, además de complicación caracterizada por obstrucción de vía aérea, requiriendo Glosoplastía mediante técnica de Harada.

ABSTRACT: Macroglossia corresponds to a condition characterized by an increase in lingual size, which can cause aesthetic and functional alterations, even compromising the airway. It is one of the early manifestations of amyloidosis, which is associated with some cases of Multiple Myeloma. Presented a clinical case of a 73-year-old male patient, presenting macroglossia in the Maxillofacial Surgery service of the Hospital del Carmen Maipú, Santiago de Chile, where it was determined that the macroglossia was in the context of amyloidosis. The diagnosis and surgical treatment performed is described, as a complication characterized by airway obstruction requiring Glossoplasty using the Harada technique.

An Overview on Developmental Disturbances of the Tongue

Tongue is a vital organ present in the oral cavity. Besides the important functions of speech and deglutition, it may act as an index for underlying systemic diseases. Although it is easy to examine the various developmental anomalies of the tongue clinically still some anomalies may present a diagnostic and therapeutic dilemma

Macroglosia en Amiloidosis Primaria como Clave Diagnostica: reporte de un Caso / Primary Amyloidosis with Macroglossia as Diagnostic Key: case Reporte

Amiloidosis se refiere a un grupo de enfermedades caracterizadas por el deposito extracelular de proteínas insolubles llamadas amiloide. La presentación intraoral de amiloidosis con macroglosia como signo primario es una entidad extraña, la cual puede afectar la funcionalidad de los pacientes aparte de la patología subyacente. Reportamos el caso de una paciente femenina de 85 años sin antecedentes mórbidos que al examen físico presenta macroglosia. La biopsia del tejido afectado fue estudiada bajo inmunohistoquimíca con tinción rojo congo, asociada al análisis de laboratorio que consignó un aumento en el componente monoclonal de cadenas livianas lambda. Se diagnosticó como amiloidosis primaria (AL). Se considera fundamental el entrenamiento al odontólogo general para el diagnóstico precoz de estos signos clínicos, por la baja sobrevida de la amiloidosis y la probabilidad de patologías ocultas como mieloma múltiple, el cual está asociado en un 20 % con AL.

Amyloidosis groups a large set of diseases characterized by the deposit of an extracellular insoluble protein known as amyloid. Intraoral presentation of macroglossia induced by amyloidosis is a rare entity that can impair patient function and hide other pathological conditions. We report a case of an 85-year-old woman with no morbid background were the physical examination revealed macroglossia. Primary systemic amyloidosis (AL) definitive diagnosis was made after the tongue biopsy resulted positive under congo red histochemical staining, and serum immunoelectrophoresis had elevated levels for lambda light chains. Primary dental dentistry training on semiotics is imperative to diagnose early stages of hidden pathologies with low life expectancy such as AL, which in 20 % of cases are associated with life threatening diseases like multiple myeloma.

Clinical Profile of Patients with Head and Neck Amyloidosis: A Single-Institution Retrospective Chart Review

Abstract Introduction Isolated amyloidosis involving the head and neck is a rare entity. The pathophysiology of the localized disease appears to be distinct from that of the systemic counterpart. Systemic progression of the localized disease is unusual, and the prognosis of the localized form is excellent. Objective To describe the demographic and clinicopathological characteristics of patients presenting with localized head and neck subsite amyloidosis. Methods A retrospective chart review of the patients with head and neck amyloidosis identified by the electronic search of the electronic database of the Departments of Pathology and Otorhinolaryngology was performed. The various demographic and clinical data were tabulated. Results In total, seven patients (four females, three males) with localized head and neck amyloidosis (three supraglottic, three lingual and one sinonasal) were identified. Six patients had AL-amyloid deposits, and one patient had AA-amyloid deposits. Supraglottic involvement and that of the base of the tongue were treated surgically using CO2 laser, and these patients were disease-free at the last follow-up. The patient with sinonasal amyloidosis experienced symptom recurrence after six months of the functional endoscopic sinus surgery. All of the patients were screened for systemic amyloidosis with abdominal fat pad biopsy, and were found to be free of systemic spread. Conclusion Isolated head and neck amyloidosis, as opposed to systemic amyloidosis, has an excellent prognosis in terms of survival. Therefore, systemic amyloidosis should be excluded in all cases. The treatment of choice remains surgical excision; however, watchful waiting may be a suitable strategy for mild symptoms or for cases in which the disease was discovered incidentally.

Caso Clínico: Manejo Perioperatorio en Pacientes con Acromegalia / Case Report: Perioperative Management in Patients with Acromegaly

INTRODUCCIÓN: La acromegalia es una enfermedad crónica, progresiva y multisistémica causada por la hipersecreción de la hormona de crecimiento de un macroadenoma hipofisario en funcionamiento. Ciertas características clínicas de esta patología son de interés anestésico sobre todo aquellas que afectan la vía aérea superior, los sistemas respiratorio y cardíaco y el sistema metabólico. CASO CLÍNICO: Paciente de sexo masculino de 34 años de edad, que presentó incremento progresivo de tamaño de pies, manos, nariz, huesos del cráneo y aumento del tamaño de la lengua, diagnosticado de acromegalia por macroadenoma hipofisiario productor de hormona de crecimiento. Se sumaron más tarde SAHOS severo, insuficiencia mitral y tricúspidea leve; motivo por el cual se programa para resección de macroadenoma hipofisiario por acceso transepto-esfenoidal. Durante la evaluación preanestésica el paciente fue catalogado como Riesgo Quirúrgico ASA III, Riesgo Cardiaco de Lee 0.04 %, NYHA I, probabilidad alta de vía aérea difícil. Transquirúrgico: Inducción anestésica con propofol, 120 mg, remifentanilo 0.2 mcg/kg/min, rocuronio 50 mg. Se logró intubación orotraqueal atraumática utilizando McCoy hoja N4, con tubo endotraqueal reforzado N 7.5. EVOLUCIÓN: Fue llevado a Terapia Intensiva donde permaneció para control posquirúrgico. El paciente permaneció hospitalizado durante 7 días y fue dado de alta en condiciones estables, sin déficit neurológico. Se mantiene aún en seguimiento por el SAHOS severo que presenta. Se ha reportado que han mejorado sus episodios de apnea nocturna. CONCLUSION: Los pacientes con enfermedad de la glándula pituitaria sometidos a cirugía pueden presentar una serie de desafíos anestésicos, desde el manejo de la vía aérea hasta cambios hemodinámicos y ventilatorios importantes durante el procedimiento quirúrgico. Es importante prever y prevenir las complicaciones y corregirlas a tiempo, para evitar lesiones irreversibles que aumenten la morbilidad del paciente.(au)

BACKGROUND: Acromegaly is a chronic, progressive and multisystemic disease caused by growth hormone hypersecretion by a functioning pituitary macroadenoma. Some clinical features of this disease are important for anesthetic management, especially those that affect the upper airway, and the cardiac, respiratory and metabolic systems. CASE REPORT: Male 34 year old patient, with progressive increase of feet, hands, nose, skull bone and tongue size, diagnosed with acromegaly caused by growth hormone producing pituitary macroadenoma. Later he presents with severe SAHOS, mitral and mild tricuspid insufficiency; so transsphenoidal resection of pituitary macroadenoma was programed. During preanesthetic evaluation was classified as ASA III Surgical Risk, Lee Cardiac Risk 0.04%, NYHA I, and high probability of difficult airway. The anesthetic induction scheme was: propofol 120 mg, remifentanil 0.2 mcg / kg / min, rocuronium 50 mg. Atraumatic orotracheal intubation using McCoy leaf N4, with reinforced endotracheal tube N 7.5 was achieved. EVOLUTION: The patient was taken to Intensive Care Unit for post-surgical control. The patient remained hospitalized for 7 days and was discharged in stable condition without neurological deficit. He is still in follow up of the severe SAHOS. It has been reported improvement of the episodes of night apnea. CONCLUSION: Patients with pituitary gland disease undergoing surgery can present some anesthetic challenges, from the airway management, to the important hemodynamic and ventilatory challenges during the surgical procedure. It is important to anticipate and prevent the possible complications and correct them in time in order to avoid irreversible injuries that increase the patient's morbidity.(au)

Amiloidosis AL y mieloma múltiple: macroglosia como primera manifestación de una combinación infrecuente / AL amyloidosis and multiple myeloma: macroglossia as first manifestation of a rare combination

El diagnóstico diferencial de la macroglosia es amplio y puede estar en el contexto de una patología localizada o una enfermedad sistémica. Dentro de las enfermedades sistémicas que se manifiestan con macroglosia se describe la amiloidosis, caracterizada por un depósito irreversible de una proteína amorfa y fibrilar El compromiso de esta patología en el territorio de cabeza y cuello es infrecuente y su depósito en la lengua corresponde a menos del 9% de los casos. Se presenta el caso de un paciente que consultó por dolor en hemilengua derecha, disfagia y baja de peso. Se estudió inicialmente con exámenes de laboratorio y nasofibroscopía, sin hallazgos concluyentes. Dado persistencia de síntomas se realizó resonancia nuclear magnética (RM) que mostraba signos sugerentes de enfermedad de depósito, confirmándose mediante estudios histopatológicos una amiloidosis sistémica secundaria. El paciente fue derivado a hematología para completar estudio e iniciar el tratamiento. La amiloidosis sistémica es un diagnóstico infrecuente, que debe ser considerado por su mal pronóstico vital. El diagnóstico en etapas iniciales puede mejorar sustancialmente la sobrevida y calidad de vida de aquellos que padecen la enfermedad. Por lo anterior, es necesario completar un estudio acabado de la patología, apoyándose en métodos no invasivos como la RM.

The differential diagnosis of macroglossia is broad, and it may be present in the context of a localized pathology or a systemic disease. One of the systemic diseases that present macroglossia is amyloidosis, which is characterized by an irreversible deposit of an amorphous and fibrillar protein. The manifestation of this pathology in head and neck territory is infrequent, and its deposit in the tongue represents less than 9% of all types of amyloidosis. We present the case of a patient, who consulted with pain in the tongue, dysphagia, and weight loss. He was initially studied with laboratory tests and a nasofibroscopy with no conclusive findings. Given the persistence of symptoms, magnetic resonance imaging (MRI) was performed, showing signs of an infiltrative disease, which was confirmed as secondary systemic amyloidosis through histopathological studies. Given the above, the patient was referred to hematology to start treatment. Systemic amyloidosis is an uncommon diagnosis that should be suspected since it implies a poor vital prognosis. Moreover, an early diagnosis can substantially improve the survival rate and quality of life of those who suffer this disease. Therefore, a comprehensive study of this condition is needed, complementing with non-invasive methods such as MRI.

Beckwith-Wiedemann Syndrome- A Rare Case Report

Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder with classical features of macroglossia,exomphalocele and gigantism. Estimated incidence rate of BWS is 1in 13,700 in population. The incidence ofBWS is equal in both the sexes. We got a rare case of Beckwith-Wiedemann syndrome in our NICU. Thediagnosis is made by clinical findings suggestive of BWS. Baby born with a macroglossia and abdominal walldefects (exomphalocele), ear anomalies, renal abnormalities seen under ultrasound and neonatal hypoglycemia.Additional supportive findings were polyhydramnios and LGA baby, cardiomegaly, hemangioma over face,enlarged placenta and characteristic facies and infraorbital creases.

Reduction glossectomy of congenital macroglossia due to lymphangioma

Macroglossia is a rare clinical condition defined as an enlarged tongue. Macroglossia can cause structural deformities like diastema and disproportionate mandibular growth and present functional disorders such as dysarthria, dysphonia, and respiratory problems. A 7-year-old boy who had lymphangiomatous macroglossia was treated with a reduction glossectomy by anchor-shaped combination of a U-shape and modified key-hole resection. Postoperatively, the reduced tongue was contained completely within the oral cavity, but open bite remained due to prognathism. Sensory and motor nerves to the tongue appeared to be intact, and circulation was adequate. This patient will be monitored for recurrence of tongue enlargement.

Angina de ludwig: reporte de un caso en tolima, colombia / Ludwig's angina: case report in tolima, colombia

La angina de Ludwig es una patología de origen infecciosa que afecta principalmente el suelo de la boca, avanzando hacia los espacios submandibulares, sublinguales y submentonianos, progresando hacia la vía aérea, pudiendo causar su colapso, falla ventilatoria y muerte. Se realiza una revisión corta actual de la más reciente literatura acerca de esta patología. Se presenta paciente femenina adulta mayor que ingresa al servicio de urgencias con diagnóstico de celulitis en región facial. Es valorada por el médico internista de turno, quien rápidamente diagnostica la Angina de Ludwig, instaura tratamiento antibiótico de amplio espectro e interconsulta con cirugía general por posible falla ventiladora con vía aérea de difícil acceso. Gracias al rápido y oportuno diagnóstico se instauró el manejo adecuado y fue posible contener la patología sin complicaciones graves.

Ludwig's Angina is an infectious disease that affects mainly the floor of the mouth, progressing through submandibular, sublingual and submentonian spaces, making its way to the airway, being able to cause its collapse, thus causing ventilatory failure and death. First of all, we begin with a short review of the latest literature regarding this illness. Its presented an elderly female adult, who is brought into the emergency service with a face cellulitis diagnose. She is examined by the internist specialist on shift, who rapidly diagnoses Ludwig's Angina, establishes broad spectrum antibiotic treatment and interconsults with the general surgery service due to possible ventilatory failure with and a hard to access air way.Thanks to the rapid and timely diagnose an adequate treatment is established and it is possible to contain this pathology without grave complications.

Tratamiento quirúrgico de macroglosia grave en el síndrome de Beckwith-Wiedemann: reporte de un caso / Surgical treatment of macroglossia in Beckwith-Wiedemann syndrome: case report

El síndrome de Beckwith-Wiedemann es una enfermedad congénita, poco frecuente, caracterizada por presentar macroglosia, defectos de la pared abdominal, hemihipertrofia, onfalocele, hipoglucemia neonatal, hernia umbilical, hepatomegalia, anomalías cardíacas, entre otros. La macroglosia se presenta en el 90% de los casos y genera problemas en la masticación, deglución, fonación y respiración, que ocasionan un cierre de la vía aérea superior. La opción terapéutica de elección es la glosectomía parcial. Se presenta a un paciente pediátrico de dos meses de nacido, con síndrome de Beckwith-Wiedemann y obstrucción de la vía aérea por macroglosia grave. En los antecedentes médicos, se reportaron cardiopatías congénitas, comunicación interauricular, conducto arterioso persistente, epilepsia sintomática, falla renal, hipoglicemia, traqueotomía y gastrostomía por el colapso de la vía aérea y disfagia. Se realizó la técnica quirúrgica de glosectomía de reducción anterior, con resultados favorables.

Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia. It was performed an anterior tongue reduction surgery as a surgical treatment with favorable results.

Neutral zone approach and external impression for rehabilitation of macroglossia: a case report

Macroglossia is an obstacle in regard to general prosthodontic restoration. Not only is it difficult to obtain support and stability from dentures manufactured from normal protocol, obtaining efficacy from basic mastication is also difficult. In such cases, realizing harmony between the occlusion and surrounding muscle structures may be important with regard to manufacture of stable full dentures, and it is necessary to form the appropriate polished surface for this case. The neutral zone is defined as the potential area resulting from the neuromuscular function that results in equilibrium between the outward force exerted by the tongue and the inward force exerted by the lips and cheeks. The artificial teeth of the full denture lies in this area, and if the polished zone follows the anatomic form of the dynamic muscles, the movement of the muscles simply acts as an element of stabilizing the dentures improving the esthetics through facial support.

Un caso de amiloidosis AL / A case report of AL amyloidosis

Antecedentes: la amiloidosis es una enfermedad sistémica que resulta del depósito de proteínas mal plegadas; en la amiloidosis de cadena ligera de la inmunoglobulina (AL), las fibrillas están compuestas de fragmentos de cadenas ligeras monoclonales. En la Argentina, la densidad de incidencia de amiloidosis AL es 4,54 cada millón de personas/año. Caso: paciente femenina de 71 años que consulta por dolor neural localizado en miembro superior izquierdo, asociado a edemas en ambos miembros inferiores y disnea de esfuerzo, pérdida de peso, constipación y macroglosia. Al examen físico presenta tensión arterial de 100/60 mm Hg; está afebril, saturando 98% de aire ambiente; peso de 46 kg y un índice de masa corporal de 18,9. Se constatan cadenas livianas libres Kappa: 5,8 mg/L, Lambda: 430 mg/L y con relación K/L: 0,13 mg/L y un ProBNP de 1686 pg/mL. La biopsia de grasa abdominal informó depósitos de amiloide, tinción de rojo Congo positivo. Resonancia magnética (RM) de corazón con contraste (gadolinio), compatible con amiloidosis cardíaca. La tomografía computarizada (TC) de tórax demostró un área de consolidación en lóbulo superior del pulmón derecho, rojo Congo positivo focal. Ante el diagnóstico de amiloidosis AL se realiza tratamiento con CYBORD. Se consolidó el tratamiento con un trasplante autólogo de médula ósea. Discusión: la afectación cardíaca es la principal causa de morbilidad y mortalidad dentro de la amiloidosis. (AU)

Background: amyloidosis is a systemic disease resulting from the deposition of misfolding proteins, in immunoglobulin light chain amyloidosis (AL) fibrils are composed of fragments of monoclonal light chains. In Argentina the incidence density of AL amyloidosis is 4.54 per million people year. Case: a 71-year-old female patient who consults for neural pain located in the left upper limb, associated with edemas in both lower limbs and exertional dyspnea, weight loss, constipation and macroglossia. On physical examination she had blood pressure of 100/60 mmHg, afebrile, saturating 98% of ambient air, weight of 46 kg and body mass index of 18.9. The peripheral blood laboratory has Kappa free light chains: 5.8 mg/L, Lambda: 430 mg/L with K L ratio: 0.13 mg/L and a ProBNP of 1686 pg/mL. Abdominal fat biopsy reports positive Congo red staining. Cardiac magnetic resonance with contrast (gadolinium) has been performed and result compatible with cardiac amyloidosis. Chest CT showed an area of consolidation in the upper lobe of the right lung; positive congo red. With the diagnosis of AL amyloidosis she was treated with CYBORD. Autologous stem cell transplantation was performed. Discussion: cardiac involvement is the main cause of morbidity and mortality by amyloidosis. (AU)

Unusual complications caused by lipoma of the tongue

Lipoma is the most common, benign, soft tissue, mesenchymal tumour and is composed of mature adipose tissue. It is infrequent in the oral cavity (approximately 0.3% of all tongue neoplasias). We describe the case of a 68-year-old man with a swelling at the tongue edge and tongue dysesthesia. Medical history, clinical assessment, radiographic images, and cytological analysis enabled specialists to classify this neoplasia as a lipoma. The patient recovered fully after surgical excision of the affected area, and the neuralgic symptoms regressed. Surgical excision is an elective treatment; however, accurate differential diagnosis, histological examination, and follow-up are required.

Macroglosia congénita: características clínicas y estrategias de tratamiento en la edad pediátrica / Congenital macroglossia: clinical features and therapeutic strategies in paediatric patients

Resumen: La macroglosia congénita es una condición que se caracteriza por una lengua que en posición de reposo protruye más allá del borde alveolar; se ha clasificado en dos categorías: verdadera, que puede ser congénita o adquirida, y relativa. Debido a la asociación de esta alteración con múltiples causas, su incidencia es variable. Es más frecuente que la macroglosia se asocie con el síndrome de Beckwith-Wiedemann, con las mucopolisacaridosis y con la enfermedad de Pompe, y con menor frecuencia a linfangioma, hemangioma o hipertrofia muscular aislada. La macroglosia se caracteriza por una lengua alargada, engrosada o ancha, protruida crónicamente en reposo, con presencia o no de fisuras y úlceras, alteraciones del lenguaje, dificultad para la alimentación y deglución, sialorrea e infecciones recurrentes de la vía respiratoria superior u obstrucción de la misma. Su valoración en niños debe iniciarse con una historia clínica y exploración física completas y con la elaboración de un árbol genealógico de al menos tres generaciones, además de investigar la presencia o no de una entidad sindrómica. Se han propuesto más de 20 técnicas quirúrgicas para resolver la macroglosia congénita; sin embargo, a la fecha no existe consenso para la aplicación de una técnica en particular para reducir su tamaño. En esta revisión se pretende destacar los aspectos clínicos y quirúrgicos de la macroglosia, desde la perspectiva de pediatras no cirujanos y genetistas, dirigido a la comunidad de especialistas médicos que atiende a estos pacientes incluyendo a los cirujanos maxilofaciales que atienden a estos pacientes.

Abstract: Congenital macroglossia is a condition that consists in an enlarged tongue that in resting position protrudes beyond the alveolar ridge. It has been classified in two categories: true macroglossia, which occurs in congenital or acquired forms, and relative macroglossia. As this alteration may be due to different causes, its incidence is not known. It is more frequently associated to Beckwith-Wiedemann syndrome, to mucopolysaccharidosis diseases and to Pompe's disease, and it has been less frequently associated to lymphangioma, hemangioma or isolated muscular hypertrophy. Macroglossia is characterized by an enlarged and thick tongue that may have fissures and ulcers, may cause language alterations, difficulties for feeding and swallowing, sialorrhea and recurrent infections of the upper airway or even its obstruction. Its clinical evaluation must include a complete clinical chart with careful physical exploration and a pedigree of that may identify the presence or absence of a hereditary associated syndrome. Macroglossia management is complex. More than twenty different surgical options to reduce the tongue size have been proposed, however, so far there is not a general agreement in this respect. The objective of this work is to review clinical and surgical aspects related to macroglossia from the point of view of non-surgical pediatricians and genetists, addressed to the different medical specialists, including the maxillofacial surgeons involved in the management of these patients.

Linfangioma microcístico em língua: relato de caso / Microcystic Lymphangioma of the Tongue: Case Report

Linfangiomas são malformações hamartomatosas dos vasos linfáticos, raras, benignas, congênitas e de etiologia desconhecida. Tratam-se de proliferações benignas que envolvem o sistema linfático tendo uma predileção pela cabeça, pescoço e cavidade oral. Há um prognóstico bom em relação às lesões em língua na maioria dos casos, exceto quando lesões volumosas podem comprometer as vias aéreas. O objetivo deste estudo é relatar um caso clínico de linfangioma localizado na língua, bem como revisar a literatura pertinente enfocando os aspectos clínicos e possibilidades terapêuticas... (AU)

Lymphangiomas are hamartomatous malformations of the lymphatic vessels, rare, benign, congenital and of unknown etiology. These are benign proliferations involving the lymphatic system having a predilection for the head, neck and oral cavity. There is a good prognosis in relation to injuries to the tongue in most cases, except when bulky lesions may compromise the airway. The objective of this study is to report a case of lymphangioma located on the tongue, as well as review the literature focusing on the clinical and therapeutic possibilities... (AU)

True congenital macroglossia surgically managed using a modified Kole technique

@#<p style="text-align: justify;"><strong>OBJECTIVE:</strong> To describe a 2-year-old boy with true congenital macroglossia surgically managed using a modified Kole technique.<br /><strong>METHODS:</strong> <br /><strong>Design:</strong> Surgical Innovation<br /><strong>Setting:</strong> Tertiary Government Hospital<br /><strong>Patient:</strong> One<br /><strong>RESULTS:</strong> A 2-year-old boy presented with congenital macroglossia, associated with difficulty feeding and phonating. On physical examination, the massive tongue had both increased length and width. At rest, it protruded between the upper and lower teeth with drying and fissuring of the tip. Dribbling of saliva and mandible prognathism were also noted. The child was surgically treated with a modified Kole technique, wherein the apex of the anterior wedge resection was extended to the posterior third midline. Final histopathology was consistent with cavernous hemangioma.<br /><strong>CONCLUSION:</strong> The modified Kole technique proved viable as the preoperative results were considered satisfactory. Tongue volume was uniformly reduced in length and width enabling mouth and jaw closure while tongue sensation and mobility were preserved. Feeding, speech intelligibility and cosmesis were markedly improved. Future application of this modification may prove its usefulness.</p>

Glossectomy in the severe maxillofacial vascular malformation with jaw deformity: a rare case report / 대한악안면성형재건외과학회지

In the field of oral-maxillofacial surgery, vascular malformations present in various forms. Abnormalities in the size of the tongue by vascular malformations can cause mandibular prognathism and skeletal deformity. The risk in surgical treatment for patients with vascular malformation is high, due to bleeding from vascular lesions. We report a rare case of macroglossia that was treated by partial glossectomy, resulting in an improvement in the swallowing and mastication functions in the patient. A 25-year-old male patient with severe open-bite and mandibular prognathism presented to our department for the management of macroglossia. The patient had a difficulty in food intake because of the large tongue. Orthognathic surgery was not indicated because the patient had severe jaw bone destruction and alveolar bone resorption. Therefore, the patient underwent partial glossectomy under general anesthesia. There was severe hemorrhaging during the surgery, but the bleeding was controlled by local procedures.

Hipotiroidismo congénito y sus manifestaciones bucales / Congenital hypothyrodism and its oral manifestations

El hipotiroidismo es el más común de los trastornos de la tiroides, puede ser congénito si la glándula tiroides no se desarrolla correctamente (hipotiroidismo congénito). La predominancia femenina es una característica. Entre las características odontológicas del hipotiroidismo se observan labios gruesos, lengua de gran tamaño, que debido a su posición suele producir mordida abierta anterior y dientes anteriores en abanico, destaca que la dentición temporal y permanente presentan un retardo eruptivo característico y, aunque los dientes son de tamaño normal, suelen estar apiñados por el tamaño pequeño de los maxilares. Se presentan dos casos clínicos de pacientes de sexo femenino que acuden a la clínica de Especialidad en Odontopediatría de la Universidad Autónoma del Estado de México con diagnóstico de hipotiroidismo congénito.

Hypothyroidism is one of the most common thyroid disorders. Hypothyroidism can be congenital in cases when the thyroid gland does not develop normally. Female predominance is a characteristic of congenital hypothyroidism. Dental characteristics of hypothyroidism are thick lips, a large-sized tongue which, due to its position, can elicit anterior open bite as well as fanned-out anterior teeth. In these cases, delayed eruption of primary and permanent dentitions can be observed, and teeth, even though normal-sized, are crowded due to the small-sized jaws. This study presents clinical cases of female patients diagnosed with congenital hypothyroidism who sought treatment at the Dental Pediatrics Unit of the Autonomous University of the State of Mexico.