CT volumetric analysis permits comparison of tongue size and tongue fat in different canine brachycephalic and mesaticephalic breeds.

While macroglossia is a newly accepted component of brachycephalic obstructive airway syndrome (BOAS) in dogs, macroglossia with increased tongue fat is a well-known cause for obstructive sleep apnea (OSA) in people, and targeted reduction procedures such as midline glossectomy are used to treat people with OSA. While midline glossectomy has been described in dogs, tissue contributions to macroglossia have not been characterized. The purpose of this retrospective, descriptive, case-control study was to describe and compare volumetric dimensions of the tongue and tongue fat in brachycephalic (BC) and mesaticephalic (MC) dogs using CT images. Data collected included head and neck CT images from 17 BC and 18 control MC dogs. Multiplanar reformatted and 3D reconstructed images were created using image segmentation and specialized visualization software to calculate volumetric dimensions of the total tongue, tongue fat, and tongue muscle. Rostral and caudal topographical distributions of fat were compared. Total tongue and tongue muscle volume (P < 0.0001) and tongue fat volume (P = 0.01) normalized to body weight (BW) were greater in BC dogs. More fat was localized in the caudal tongue in both groups (P < 0.04). In regression analysis, BC conformation and increased weight were significant predictors of increased tongue fat volume. As in people, increased tongue fat may contribute to macroglossia and sleep-disordered breathing in BC dogs. Use of CT volumetry to identify tongue fat deposits may permit targeted surgical reduction of tongue volume in BC dogs and contribute substantially to treatment of BOAS.

Recurrent macroglossia requiring tracheostomy after haemorrhagic basal ganglia stroke.

A 50-year-old African American woman with hypertension, congestive heart failure, chronic kidney disease and prior cerebral vascular accident was transferred from an outside hospital after being found unresponsive and subsequently intubated for severe orolingual swelling. Imaging showed left thalamic haemorrhagic stroke, and the lingual swelling was clinically concerning for angio-oedema, with which a lingual biopsy was consistent. Work-up was negative for hereditary or acquired angio-oedema, and imaging was negative for structural causes. Of note, the patient had an episode of severe orolingual swelling 3 months prior to this presentation after suffering left thalamic haemorrhage which self-resolved after approximately 2 months. In both episodes lingual swelling predated receipt of tissue plasminogen activator and she had discontinued ACE inhibitor therapy since her first episode of tongue swelling. Despite medical and supportive management, tongue swelling progressed during admission and the decision was made to allow the patient's tongue swelling to self-resolve.

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.

Craniofacial disorders.

The complexity of the craniofacial patient mandates the cooperation of a multidisciplinary team that can systematically evaluate each individual and ensure that a protocol-driven pathway is undertaken for the best patient care. Oral and maxillofacial surgeons contribute to surgical care in this setting with specific knowledge of growth and development of the face. This enables optimum timing for early skeletal correction where appropriate, and definitive surgery following the cessation of growth to maximize function and aesthetics. This chapter will describe the major principles in managing patients with specific craniofacial anomalies and provide examples of the outcomes possible.

Large facial lymphatic malformation treatment using sclerosing agent followed by surgical resection: clinical and pathology report.

Lymphatic malformations are rare slow-flow vascular malformations, with high tendency to appear in the head and neck region. The treatment of these lesions ranges from follow-up to sclerosing agent injection to surgical excision. The authors present a case of a new born with large extensive lingual and submandibular lymphatic malformation, for which the patient underwent tracheostomy and gastrostomy insertion. He was then treated successfully with sclerosing agent injections followed by surgical excision, with 7 years follow-up. The second case presented is a two and a half baby with large lingual lymphatic malformation, treated successfully with doxycycline injections followed by intraoral excision of the lesion. Pathology of the excised lesion is then demonstrated, which shows for the first time the different layers affected by the sclerosing agent.

A case of symmetrical lipomatosis of the tongue presenting as macroglossia.

UNLABELLED: Lipomas are the most common benign soft tissue mesenchymal tumours composed of mature adipose tissue. They are uncommon in the oral and maxillofacial regions, with 15-20 % of cases involving the head and neck region and less than 5% of all benign oral lesions. Multiple symmetric lipomatosis is rare and characterized by diffuse growth and nonencapsulated lipomas. It is usually found in the posterior neck and upper trunk and they are relatively infrequent on the oral and maxillofacial regions like Madelung disease. In the report, we describe a rare case of symmetrical lipomatosis of tongue with OSAS and Dysartria. This lesions were resected under general anesthesia. Intraoperative findings revealed only adipose tissues with replacement of lingual muscles and no capsulation. The lesion was finally diagnosed as symmetric lipomatosis of the tongue based on clinical radiological and histologic examination. SLT (Symmetrical lipomatosis of the tongue) is an extremely rare case that appears like a macroglossia. Partial glossectomy is the treatment of choice because of the improvement of symptoms and the low rate of recurrence. KEY WORDS: Macroglossia, Oral lipoma, Tongue lipomatosis.

[Beckwith-Wiedemann syndrome: What do you search in prenatal diagnosis? About 14 cases]. / Le syndrome de Beckwith-Wiedemann : que faut-il rechercher en anténatal? À propos d'une série de 14 cas.

OBJECTIVES: Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth syndrome and has an incidence of 1/13,700. The majority of the cases are diagnosed after birth. Patients with BWS have an increased risk of neonatal hypoglycemia and embryonal tumors development in childhood. We wanted to identify the ultrasound signs that must alert physicians to prepare best perinatal management strategies. METHODS: We conducted a retrospective study of a population of 14 cases of BWS diagnosed in perinatal period; four of them were detected prenatally by ultrasound. The anomalies signs described in prenatal were analyzed and compared with the clinical features of the postnatal period. RESULTS: The major features reported were represented by macrosomia for 71.4% with an increase of abdominal circumference, and macroglossia for 78.6%. The minor features were various with 64% of visceromegaly (nephromegaly and/or hepatomegaly), 50% of hydramnios and for 80% of male children a genital anomaly (crytorchidism and/or hypospadias). CONCLUSION: This study identified some prenatal ultrasound signs that should alert the clinician to the possibility of BWS. A genetic conseling, after confirmation by molecular diagnosis, could be proposed in a near future in prenatal, and could improve postnatal management strategies for these affected children at high postnatal risk.

[Myeloma disease with concomitant macroglossia: case report].

The paper describes a patient presenting with myeloma disease with concomitant macroglossia simulating a neoplasm in the bottom of the oral cavity and complicated by laryngeal paresis and the development of grade III stenosis. A brief characteristic of myeloma disease, amyloidosis, and macroglossia syndrome is provided. The authors focus attention on the main diagnostic criteria for this pathology and discuss possible diagnostic mistakes.

Dermoid cyst of the tongue: an association of dermoid cyst with bronchogenic epithelium.

A congenital dermoid together with a bronchogenic cyst of the tongue is extremely rare. The diagnosis made in this case of a 1-year-old boy was "teratoid cyst of the tongue". A surgical exploration was performed under general anaesthesia via a midline sagittal glossotomy. The tumour was completely dissected and excised, the microscopical examination of the surgical specimen revealed multiple cystic cavities lined by a keratinized squamous epithelium with skin appendages and fatty tissue. Others were composed of cylindrical, ciliated epithelial cells of respiratory type. This is the third reported case in the world literature. All cases were reviewed and compared with this case.

Oral lymphangioma: a case report.

Lymphangiomas are congenital malformations of lymphatic vessels filled with a clear protein-rich fluid containing few lymph cells. It can also occur in association with hemangioma. Large lymphangioma extending into the tissue spaces of neck is referred to as cystic hygroma. Herewith, we present a case of cystic hygroma associated with lymphangioma of tongue leading to macroglossia in a 5-year-old boy.

Prenatal diagnosis of Beckwith-Wiedemann syndrome.

OBJECTIVES: The diagnosis of Beckwith-Wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema. METHODS: Published reports obtained from Medline searches were reviewed and combined with our cases. RESULTS: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS. CONCLUSION: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies.

[Intralingual dermoid cyst: imaging features of a giant cyst]. / Kyste dermoïde de la langue: aspects en imagerie d'un kyste géant.

Dermoid cysts of the oral cavity are rare and most commonly involve the floor of mouth. Intralingual dermoid cysts are extremely rare and usually large at the time of diagnosis in adult patients. We report the case of 6 year old girl with macroglossia and swallowing and respiratory difficulties due to a giant intralingual dermoid cyst. Ultrasonography showed a large cystic intralingual lesion. MRI allowed accurate evaluation of the size, the extension and the relationship of the cystic mass with adjacent structures, the fat component of the cystic mass confirmed the dermoid origin. This case illustrates the diagnostic contribution of US and MRI in this disease.

Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical artery.

Beckwith-Wiedemann syndrome is an inherited disorder most commonly characterized by prenatal or postnatal overgrowth, macroglossia, omphalocele, unusual earlobe creases, and increased risk of neoplasia. Several reported cases of this syndrome have been prenatally diagnosed, but no report has described the occurrence of this syndrome in association with a single umbilical artery. We report a case in which prenatal sonographic examination demonstrated fetal overgrowth, macroglossia, and omphalocele together with a single umbilical artery; our prenatal diagnosis of Beckwith-Wiedemann syndrome was confirmed after birth of the infant. The possibility of this syndrome should be considered when performing a detailed sonographic examination of a fetus with a single umbilical artery.

Vanished twin and fetal alcohol syndrome in the surviving twin. A case report.

BACKGROUND: The diagnosis of twin pregnancy can be made early in pregnancy by ultrasonography (US). Follow-up examination occasionally demonstrates the disappearance of one of the twins. CASE: A twin disappeared on US examination; the surviving twin exhibited signs of fetal alcohol syndrome and other congenital anomalies, accompanied by a placental form of fetus papyraceus. CONCLUSION: Early US examination is useful for diagnosing multiple gestation. However, a follow-up examination is required to alert the clinician to the disappearance of one twin. Careful examination of the placenta may document fetal remnants. In this case a small, atretic nodule on the placental surface was evidence of the vanished twin.

Diagnosis of macroglossia and indications for reduction glossectomy.

Macroglossia can create dentomusculoskeletal deformities, instability of orthodontic and orthognathic surgical procedures, and masticatory, speech, and airway problems. The cause of macroglossia must be clearly defined, and true macroglossia separated from pseudomacroglossia (displacement of the tongue created by anatomic factors other than tongue size alone). This article discusses the signs and symptoms of macroglossia, including the clinical and radiographic features, treatment techniques, as well as previously reported results. Cases are shown to illustrate the applicability of this technique.

Angiomatous malformation of the floor of the mouth associated with fluctuating macroglossia in an adult: an unusual case report.

We report an unusual case of a large vascular lesion of the floor of the mouth of rapid onset in a 50-year-old man who presented with an external swelling in the submental region and a history of fluctuating swelling of the tongue. The clinical features, investigations, treatment and course of this rare condition are discussed.