Sturge-Weber syndrome with massive macroglossia and anterior neck space infection- a case report and review of literature.

Sturge- Weber syndrome (SWS), is a rare neuro-cutaneous angiomatosis which affects male and females alike. The clinical manifestations include angiomas, haemangiomas of the lips, tongue and palatine region. The oral manifestations are usually unilateral and are susceptible to bleed. Patients can also present with macroglossia and maxillary bone hypertrophy which can lead to malocclusion of the oral cavity. Food accumulation due to occlusion can cause growth of bacteria which can intensify infections and can cause gingival hyperplasia. A case of a middle-aged 39 year old female was reported in the Ziauddin Hospital, Karachi on 2nd of February,2022 with the presenting complaints of intermittent fever and drowsiness for 10 days. On examination she had massive tongue enlargement, drooling, malocclusion, difficulty in eating and breathing. She was a known case of Sturgeweber syndrome. Based on the clinical and radiological findings, she was managed along the lines of prelaryngeal soft tissue and submandibular infection.

Evaluation of keyhole-pattern reduction glossoplasty for macroglossia in beckwith-wiedemann syndrome: A multidimensional analysis of postoperative course and outcomes.

The aim of this study was to evaluate the postoperative course and long-term functional and aesthetic outcomes in patients with Beckwith-Wiedemann syndrome (BWS) following surgical reduction of macroglossia, using multiple questionnaires. Patients with BWS who underwent keyhole reduction for macroglossia were included in this study. The postoperative course for each patient was recorded, and multiple questionnaires were administered to evaluate aesthetic concerns, oral incompetence or feeding difficulties, sleep-disordered breathing symptoms, and speech. Nine patients underwent ten reduction glossoplasty surgeries. The mean age at surgery was 22 months. The postoperative course for each case was uneventful, except for one patient who had wound dehiscence. The questionnaires revealed significant improvements in tongue appearance, feeding, drooling, facial appearance, and psychosocial outcomes. There was also a significant reduction in sleep-disordered breathing symptoms after surgery. Keyhole reduction glossoplasty is a safe and effective procedure for the treatment of macroglossia in BWS patients, with excellent functional and aesthetic outcomes and a low complication rate.

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.

Clinical aspects, food management, and clinical evolution of a cat with hypertrophic muscular dystrophy / Aspectos clínicos, manejo alimentar e evolução clínica de um gato com distrofia muscular hipertrófica

Hypertrophic feline muscular dystrophy (HFMD), rarely reported in the literature, is a disease caused by a hereditary recessive dystrophin deficiency linked to the X chromosome, mainly affecting young male cats. Here, we presented the clinical aspects, food management, and clinical evolution of a seven-year-old mixed-breed cat diagnosed with HFMD, having a primary history of progressive tongue protrusion.

A distrofia muscular hipertrófica felina é uma doença causada por uma deficiência da distrofina com caráter hereditário recessivo ligado ao cromossomo X, com poucos registros de ocorrência na literatura, que acomete principalmente gatos machos jovens. Neste trabalho, são relatados os aspectos clínicos, manejo alimentar e evolução clínica de um gato, sem raça definida, de sete anos com histórico principal de protrusão progressiva da língua e diagnosticado com distrofia muscular hipertrófica felina.

Manifestaciones bucales de pacientes con mucopolisacaridosis / Oral manifestations in patients with mucopolysaccharidosis

Objetivo: Describir las características bucales prevalentes de pacientes argentinos con mucopolisacaridosis (MPS) atendidos en el Servicio de Odontología del Hospital Nacional "Prof. Alejandro Posadas". Materiales y métodos: Se consideraron las historias clínicas de 19 pacientes con diagnóstico de MPS. Se registraron la edad, el sexo, el lugar de residencia, el tipo de MPS y la presencia de retraso madurativo. La muestra estuvo constituida por 13 niños (6,7±3 años) y 6 adultos (26±9 años): 2 eran mujeres (1 con MPS tipo I; 1 con MPS tipo IV A) y 17 eran hombres (15 con MPS tipo 2; 1 con MPS tipo 1; 1 con MPS tipo III); 13 de los pacientes presentaban discapacidad intelectual. Se evaluaron: tipo de dentición, oclusión, macroglosia, hipoplasias del esmalte, tipo de respiración predominante, clase molar y tratamiento realizado. Resultados: Ambos casos con MPS I presentaban mordida abierta anterior y giroversión dental, y solo uno de estos, diastemas, microdoncia, hipoplasias del esmalte, macroglosia y respiración bucal. De los 15 pacientes con MPS II, 11 presentaban mordida abierta anterior (73%), 3 mordida cruzada posterior (20%), 5 giroversión dental (33%), 11 diastemas (73%), 3 retraso en la erupción (20%), 4 hiperplasia gingival (26%), 13 macroglosia (87%), 7 hipoplasias del esmalte (47%), 2 microdoncia (13%), 9 respiración bucal (60%). Se registraron 5 pacientes con clase molar I (33%), 3 con clase molar II (20%), 3 con clase molar III (20%) y en 3 casos no se pudo evaluar (20%). En el paciente con MPS tipo III se halló mordida abierta anterior, diastemas, retraso en la erupción, macroglosia, respiración bucal y clase molar II; y en el caso de MPS tipo IV A, mordida abierta anterior, diastemas, hiperplasia gingival, macroglosia y clase molar II. El 90% de los pacientes requirió tratamiento odontológico (AU)

Aim: To identify the most prevalent oral manifestations of 19 Argentine patients with mucopolysaccharidos (MPS) attending the Dentistry Service of the National Posadas Hospital. Materials and methods: The medical records of 19 patients diagnosed with MPS were considered. Age, sex, place of residence, type of MPS, and presence of maturational delay were recorded. The sample consisted of 13 children (6.7 ± 3 years) and 6 adults (26 ± 9 years): 2 were women (1 with MPS type I; 1 with MPS type IV A) and 17 were men (15 with MPS type 2; 1 with MPS type 1; 1 with MPS type III); 13 of the patients had intellectual disabilities. The following were evaluated: type of dentition, occlusion, macroglossia, enamel hypoplasia, predominant type of respiration, molar class and treatment performed Results: Both cases with MPS I presented anterior open bite and dental gyroversion, and only one of these, diastemas, microdontia, enamel hypoplasia, macroglossia and mouth respiration. Of the 15 patients with MPS II, 11 presented anterior open bite (73%), 3 posterior crossbite (20%), 5 dental gyroversion (33%), 11 diastemas (73%), 3 delayed eruption (20%), 4 gingival hyperplasia (26%), 13 macroglossia (87%), 7 enamel hypoplasia (47%), 2 microdontia (13%), 9 mouth breathing (60%). 5 patients with molar class I (33%), 3 with molar class II (20%), 3 with molar class III (20%) and in 3 cases it could not be evaluated (20%). In the patient with type III MPS, anterior open bite, diastemas, delayed eruption, macroglossia, mouth breathing and molar class II were found; and in the case of type IV A MPS, anterior open bite, diastemas, gingival hyperplasia, macroglossia and molar class II. 90% of the patients required dental treatment. Conclusion: The most observed oral manifestations were macroglossia (84.2%) and anterior open bite (73%) (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.

Amiloidosis primaria y mieloma múltiple, una asociación frecuente / Primary amyloidosis and multiple myeloma, a frequent association

La amiloidosis primaria (AL) es la forma más común de amiloidosis y se caracteriza por presentar una población clonal de células plasmáticas que producen una cadena ligera monoclonal de tipo lambda o kappa; en algunos sujetos dicha cadena se deposita en forma de amiloide en los órganos y tejidos, dando lugar a manifestaciones clínicas como proteinuria o síndrome nefrótico, miocardiopatía restrictiva y hepatomegalia. El mieloma múltiple (MM) es una enfermedad neoplásica en la que hay proliferación de células plasmáticas en la médula ósea y una sobreproducción de inmunoglobulinas monoclonales completas. Representa el 13 % de los cánceres hematológicos y la edad media al diagnóstico son los 65 años. El dolor óseo, las fracturas patológicas y la hipercalcemia son las principales manifestaciones clínicas. La prevalencia de AL asociada a MM varía desde el 13 al 26 %. Presentamos el caso de una paciente con AL asociada a MM con particularidades únicas en su desarrollo

Primary amyloidosis (PA) is the most common form of amyloidosis and is characterised by a clonal population of plasma cells which produce a lambda or kappa monoclonal light chain. In some subjects, this chain is deposited in the form of amyloid on organs and tissues, causing clinical expressions such as proteinuria or nephrotic syndrome, restrictive cardiomyopathy, and hepatomegaly. Multiple myeloma (MM) is a neoplastic disease with plasma cell proliferation in the bone marrow and overproduction of complete monoclonal immunoglobulins. It represents 13 % of hematologic cancers and the average age at diagnosis is 65 years. Bone pain, pathological fractures, and hypercalcemia are the main clinical expressions. The prevalence of PA associated with MM ranges from 13 to 26 %. We present the case of a woman with PA associated with MM, with unique features during its course

Prevalencia de lesiones bucales en tejido blando encontradas en la Clínica de Estomatología de la Facultad de Odontología de la Universidad de los Andes: periodo 2015-2018 / Prevalence of oral lesions in soft tissue found in the Clinic of Stomatology of the Faculty of Dentistry of the University of los Andes: 2015-2018 period

Introducción: La epidemiología sobre alteraciones en tejidos blandos bucales es limitada cuando se compara con caries, enfermedades periodontales y maloclusiones, por lo que su estudio representa un paso adelante en la odontología más allá de los dientes. Objetivo: Describir la prevalencia de las lesiones bucales en tejido blando encontradas en la Clínica de Estomatología de la Facultad de Odontología de la ULA, del 2015 al 2018, con la finalidad de proporcionar una fuente de datos actualizada, que oriente a una mejor prevención y oportuno diagnóstico. Material y métodos: Se realizó una investigación descriptiva, documental, retrospectiva y multivariable. Resultados: De 1,000 fichas clínicas estudiadas, las patologías más frecuentes fueron: lengua saburral (50.6%), queilitis (33.4%), traumatismo de la mucosa de los carrillos (27.6%), várices linguales (18.3%), anquiloglosia (13.7%) y agrandamiento de rugas palatinas (11.7%). La zona con mayor alteración fue la lengua (92.1%), mientras que el paladar fue la menos afectada (29%). De los hábitos predisponentes a la formación de lesiones, el mordisqueo de mucosa fue el más común (16.5%). En cuanto a los factores locales asociados, una higiene oral regular/ deficiente resultó el principal (53.8%). Conclusión: La educación del paciente sigue siendo considerada la clave para disminuir la aparición de patologías y su evolución a entidades más graves (AU)

Introduction: Epidemiological studies on soft tissue alterations in the mouth are limited when compared with caries, periodontal diseases and malocclusions, so their study represents a step forward in dentistry beyond the teeth. Objective: To describe the prevalence of soft tissue oral lesions found in the Stomatology Clinic of the ULA School of Dentistry, from 2015 to 2018, in order to provide an up-to-date data source, to guide better prevention and timely diagnosis. Material and methods: A descriptive and documentary, retrospective and multivariable research was carried out. The statistical package IBM SPSS Statistics v 23 was applied for the analysis. Results: 1,000 clinical records studied, the most frequent pathologies were: saburral tongue (50.6%), cheilitis (33.4%), traumatism of the cheek mucosa (27.6%), lingual varices (18.3%), ankyloglossia (13.7%) and enlargement of palatal rugas (11.7%). The tongue was the most affected (92.1%), while the palate was the least affected (29%). Of the predisposing habits to the formation of lesions, mucosal nipping was the most common (16.5%). Regarding the associated local factors, a regular / deficient oral hygiene was the main one (53.8%). Conclusion: Patient education is still considered the key to diminish not only the appearance of pathologies but their evolution to more serious entities (AU)

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.

Beckwith-Wiedemann Syndrome: Open bite evolution after tongue reduction

Background: Macroglossia causes functional deficits such as airway obstruction, drooling, phonation difficulties, and leads to protrusion of dentoalveolar structures resulting in an anterior open bite and a prognathic mandibular appearance. Macroglossia is present in the majority of patients with Beckwith-Wiedemann syndrome (BWS) and surgical treatment may be indicated. Material and Methods: A retrospective review was conducted including BWS patients who underwent surgical tongue reduction between 2000 and 2015 at the Hospital Universitario La Paz, Madrid. Results: Out of 16 patients with BWS, surgery was performed in 11 cases. Tongue protrusion with open bite was the main indication for surgical treatment. Reduction glossectomy was performed using the keyhole technique. We analysed the relationship between age at surgery and evolution of open bite. Complications were minimal and satisfactory outcomes were observed with a decrease in anterior open bite. Conclusions: In this study we have observed that surgical treatment in patients with BWS and open bite accompanied by macroglossia seems to provide positive results with a satisfactory outcome in dentoskeletal alterations (AU)

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Glossectomia parcial associada à cirurgia ortognática: relato de caso / Partial glossectomy associated with orthognathic surgery: case report

A macroglossia é caracterizada pelo aumento de volume da língua, a qual afeta todo o sistema estomatognático em função de sua posição e tamanho. Ela é considerada um fator etiológico para: mordida aberta, protrusão bimaxilar, espaçamento entre os arcos dentários e pode causar instabilidade pós-tratamento ortodôntico/ortodôntico-cirúrgico. Aglossectomia é uma cirurgia com prognóstico favorável, pois melhora a estabilidade oclusal, esta pode ser associada antes, simultaneamente ou após a cirurgia ortognática. Nos casos em que o tamanho da língua inviabiliza a realização da cirúrgiaortognática. Descrever um relato de caso de glossectomia associada à cirurgia ortognática, apresentando o diagnóstico, tratamento instituído, técnica cirúrgica e acompanhamento pós operatório. Paciente sexo feminino, acompanhada há 10 anos pelo preceptor do serviço foi submetida à cirurgia ortognática e glossectomia em mesmo tempo cirúrgico, com retração mandibular instituída através de osteotomia bilateral e fixação com duas placas no sistema 2.0. A técnica selecionada para a glossectomia foi de "buraco de fechadura" modificada sem avançar a incisão muito a posterior. Não houve sequelas e a paciente ficou muito satisfeita com o resultado. A macroglossia é uma condição de difícil diagnóstico que precisa ser tratada para uma melhor qualidade de vida e desenvolvimento do paciente, melhor resultado pós operatório em cirurgias ortognáticas, evitar recidivas devido a memória muscular e a influência da língua na posição alvéolo dentaria(AU)

The macroglossia is characterized by an increase in the volume of the tongue, which affect the entire stomatognathic system in function of the tongue position and size. It is considered an etiological factor for: open bite, bimaxillary protrusion, spacing between dental arches and may cause orthodontic / orthodontic-surgical post-treatment instability. Glossectomy is a surgery with favorable prognosis, because cause a improvement of occlusal stability, may be associated before, simultaneously or after an orthognathic surgery. In cases where the size of the tongue makes it impossible to perform orthognathic surgery. To describe a case report of glossectomy associated with orthognathic surgery, presenting the diagnosis, treatment instituted, surgical technique and postoperative follow-up. Female patient, followed for 10 years by the preceptor of the service. She had been submited toaorthognathic surgery and glossectomy in one surgical time, with mandibular retraction instituted through bilateral osteotomy and fixation with two plaques in the 2.0 system. The technique selected for glossectomy was a modified "keyhole" without advancing the incision much later. There were no sequels and patient was very satisfied with the result. Macroglossia is a difficult diagnosis condition that needs to be treated for a better quality of life and development of the patient, better postoperative result in orthognathic surgeries, to avoid relapses due to a Muscular memory and the influence of the tongue in the dental alveolus position(AU)

Oral manifestations in children with mucopolysaccharidosis / Manifestações orais de mucopolissacaridose em crianças

BACKGROUND: Patients with mucopolysaccharidosis have several changes of the stomatognathic complex, representing a challenge for dentists. OBJECTIVE: The study aimed to evaluate and characterize oral health in patients with mucopolysaccharidosis in a reference center of Portugal. METHOD: The sample consisted of twelve participants with mucopolysaccharidosis followed in Metabolic Diseases Unit of the S. João Hospital Centre and twelve healthy participants followed at Faculty of Dental Medicine, University of Porto. The clinical oral evaluation was performed by a complete extra-oral and intra-oral examination to assess the presence of oral pathologies, gingival index and occlusion status. RESULTS: Mucoplysaccaridosis patients and controls presented similar age ranges and sex distribution. In comparison to controls, children with mucopolysaccharidosis presented a higher prevalence of tooth decay, gingival bleeding, macroglossia, dental hypoplasia, lingual interposition, delayed tooth eruption, anterior open bite, right and left posterior cross-bite, limitation of mouth opening, alteration on the size and shape of the teeth, diastemata and maxillary compression. CONCLUSIONS: Patients with mucopolysaccharidosis have a high prevalence eruption delay, teeth morphology alterations, occlusal problems, dental caries and bleeding gums, highlighting the need of oral health care providers to improve diagnostics and preventive protocols to overcome the factors that limit the oral health of these patients and promote together with parent/caregiver efficient oral care strategies.

INFORMAÇÕES GERAIS: Os pacientes com mucopolissacaridose apresentam diversas alterações do complexo estomatognático, representando um desafio para os médicos dentistas. OBJETIVO: O estudo pretendeu avaliar e caracterizar a saúde oral em pacientes com mucopolissacaridose num centro de referência em Portugal. MÉTODO: A amostra foi constituída por doze pacientes com mucopolissacaridose (MPS) seguidos na Unidade de Doenças Metabólicas do Centro Hospitalar de São João e doze participantes saudáveis seguidos na Faculdade de Medicina Dentária da Universidade do Porto. A avaliação clínica oral consistiu num completo exame extra-oral e intra-oral para avaliação de patologias orais, índice gengival e perfil oclusal. RESULTADOS: Pacientes com MPS e controlos apresentaram médias similares de idade e de distribuição de género. Em comparação com os controlos, crianças com mucopolissacaridose apresentam maior prevalência de dentes cariados, sangramento gengival, macroglossia, hipoplasia dentária, interposição lingual, erupção dentária atrasada, mordida aberta anterior, mordida cruzada posterior direita e esquerda, limitação da abertura da boca, alteração do tamanho e forma dentária, diastemas e compressão maxilar. CONCLUSÃO: Pacientes com mucopolissacaridose apresentam maior prevalência de erupção dentária atrasada, alterações morfológicas dentárias, problemas oclusais, cáries dentárias e gengivas inflamadas, reforçando a necessidade de prestadores de saúde oral para melhorar diagnósticos e protocolos preventivos para ultrapassar os fatores que limitam a saúde oral destes pacientes e promover em conjunto com pais/cuidadores estratégias de saúde oral eficientes.

Amiloidosis cardiaca: descripción de una serie de 143 casos / Cardiac amyloidosis: Description of a series of 143 cases

Introducción y objetivos: Recientemente se han producido importantes avances en el diagnóstico y tratamiento de la amiloidosis cardiaca (AC). Nos propusimos realizar una descripción actualizada de sus 2 tipos más frecuentes: la AC por transtirretina (AC-ATTR) y la AC por cadenas ligeras (AC-AL).MétodosRegistro prospectivo de pacientes diagnosticados de AC en 7 hospitales de Galicia entre el 1 de enero de 2018 y el 30 de junio de 2020. Se recogieron variables relativas a características clínicas, pruebas complementarias, supervivencia y causas de muerte.ResultadosSe incluyeron de forma consecutiva 143 pacientes con AC, 128 AC-ATTR (89,5%) y 15 AC-AL (10,5%). La edad media fue de 79,6±7,7 años y un 23,8% fueron mujeres. La mayoría de los pacientes con AC-ATTR se diagnosticaron de forma no invasiva (87,5%). En la exploración física, un 35,7, un 35 y un 7% de los pacientes presentaban el signo de Popeye, contractura de Dupuytren y macroglosia, respectivamente. La supervivencia a los 12 y 24 meses fue del 92,1 y el 76,2% en el grupo AC-ATTR, y del 78,6 y el 61,1% en el grupo AC-AL (p=0,152). La causa de muerte fue cardiovascular en el 80,8% de la cohorte.ConclusionesLa AC-ATTR puede ser diagnosticada en la mayoría de los casos de manera no invasiva y es la forma de AC más frecuente en la práctica clínica habitual. Además, parece observarse un aumento en la supervivencia a corto plazo de la AC que en parte podría deberse a los avances relacionados con su diagnóstico y tratamiento. (AU)

Introduction and objectives: Recently, there have been important advances in the diagnosis and treatment of cardiac amyloidosis (CA). Our aim was to provide an updated description of its 2 most frequent types: the transthyretin CA (ATTR-CA) and the light chain CA (AL-CA).MethodsProspective registry of patients with CA diagnosed in 7 institutions in Galicia (Spain) between January 1, 2018 and June 30, 2020. Variables related to clinical characteristics, complementary tests, survival and causes of death were collected.ResultsOne hundred and forty-three patients with CA were consecutively included, 128 ATTR-CA (89.5%) and 15 AL-CA (10.5%). Mean age was 79.6±7.7 years and 23.8% were women. Most patients with ATTR-CA were diagnosed non-invasively (87.5%). On physical examination, 35.7, 35 and 7% had Popeye's sign, Dupuytren's contracture and macroglossia, respectively. Twelve-month and 24-month survival was 92.1 and 76.2% in the ATTR-CA group, and 78.6 and 61.1% in the AL-CA group (P=.152). The cause of death was cardiovascular in 80.8% of the cohort.ConclusionsATTR-CA can be diagnosed non-invasively in most cases and it is the most common type of CA in routine clinical practice. Furthermore, an increase in the short-term survival of CA appears to be observed, which could be due to advances related to its diagnosis and treatment. (AU)

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)

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)

Recidiva de fibroadenoma juvenil en paciente afecta de síndrome de Beckwith-Wiedemann / Recurrence of juvenile fibroadenoma in a patient with Beckwith-Wiedemann syndrome

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Evaluación de la articulación temporomandibular en sujetos con síndrome de Down / Temporomandibular joint evaluation in subjects with Down syndrome

Introducción: Los sujetos con síndrome de Down (SD) presentan hipotonía y disfunciones en el sistema estomatognático, tales como disminución de la cavidad oral, macroglosia y maloclusiones, incrementando la prevalencia de los trastornos temporomandibulares. Objetivo: Evaluar la articulación temporomandibular de los sujetos con SD a fin de verificar la prevalencia de los trastornos temporomandibulares y las posibles relaciones posturales. Métodos: Se incluyó en este estudio a 40 individuos con SD. Se evaluó la articulación temporomandibular mediante examen físico funcional y preguntas sobre los hábitos diarios de cada participante. Posteriormente, los sujetos fueron fotograbados delante de un posturógrafo, evaluándose sus posturas. Resultados: La mayoría de los participantes presentó disfunción de la articulación temporomandibular (77,5%). Los signos y los síntomas más frecuentes fueron alteraciones en relación con el tipo de mordida y hábitos parafuncionales, con una correlación significativa con la presencia de disfunción temporomandibular (p = 0,038). Todos los participantes que manifestaron dolor presentaron disfunción articular (p = 0,016). Las alteraciones posturales encontradas no tuvieron correlación con la presencia de disfunción temporomandibular. Conclusión: Se observó una alta prevalencia de disfunción temporomandibular en los individuos evaluados y una importante relación entre la disfunción y la presencia de hábitos parafuncionales y dolor en sujetos con SD (AU)

Background: Subjects with Down syndrome present hypotonia, stomatognathic alteration system, such as small oral cavity, macroglossia and malocclusions, may suggest a higher risk for temporomandibular disorders. Aim: to evaluate the temporomandibular joint of Down syndrome subjects with, to verify temporomandibular disorders prevalence and possible postural associations. Methods: Forty subjects was included in this study. Temporomandibular joint was evaluated across functional physical screening and questions about daily habits. After, the subjects was submitted a postural evaluation through photographic registers in front of a crisscross space. Results: Most subjects was presented temporomandibular disorders (77.5%). The most common signs and symptoms found were bite alterations and parafunctional habits. Moreover, parafunctional habits and pain were positively correlated to temporomandibular disorder in these subjects (p = 0.038 and p = 0.016 respectively). Postural alterations were not significant correlation with temporomandibular disorder. Conclusion: To verified a high prevalence of temporomandibular disorder and important relationship between parafunctional habits and pain in subjects with Down syndrome (AU)