Down syndrome as a cause of abnormalities in the craniofacial region: A systematic literature review.

Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and characteristics found in trisomy 21, which greatly affect the functioning of the stomatognathic system. The most significant disorders include the following: false macroglossia, muscular hypotonia and gothic palate. These abnormalities affect articulation, breathing, food intake, and swallowing. We analyzed the morphological characteristics of the craniofacial region in children with DS based on the current literature review. The following databases were used for the analysis: MEDLINE (via PubMed), Scopus, Infona, and Dentistry & Oral Sciences Source. In the course of the study, 199 pieces of literature were analyzed; the analysis also included 18 articles on children and adults with DS. It also took into account the structure of the palate, dental and skeletal defects, size of the tongue, muscular hypotonia, and temporomandibular joint dysfunction. Down syndrome is still a current subject of research. Although macroglossia, hypotonia, malocclusion, and temporomandibular joint abnormalities are not features exclusive to DS, numerous dysfunctions and parafunctions as well as retarded psychomotor development greatly complicate the treatment. Therefore, interdisciplinary treatment of patients with trisomy 21 and early treatment in the first months of life with the use of the Castillo-Morales plate are very important, as they ensure better adaptation to the subsequently used apparatus and reduce the risk of disorders of the stomatognathic system.

Macroglossia in primary lateral sclerosis: a case report.

Purpose/Aim: Macroglossia is a rare condition, especially in patients with motor neuron disease. In this case report, we describe a patient with macroglossia in the early stages of motor neuron disease. Case report: A 62-year-old woman presented with macroglossia in the early stages of motor neuron disease. She was referred to the department of physical medicine and rehabilitation of a university hospital for rehabilitation with the diagnosis of motor neuron disease, most likely primary lateral sclerosis. Her speech was incomprehensible, and she also showed significant sialorrhea and had difficulty in chewing large solid food. Her tongue was enlarged on examination, and she could not close her mouth fully. No other possible causes of macroglossia were found. She showed nocturnal hypercapnia on overnight capnography examination coupled with desaturation, which was believed to result from the macroglossia. After commencing non-invasive ventilation with pressure control mode, follow-up overnight capnography revealed EtCO2 values within the normal range. Conclusions: To the best of our knowledge, this is the first report of macroglossia in PLS. Further study would be needed to ascertain the pathogenesis of this phenomenon.

Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

The authors of the recently published, "Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases", provide an important review of the various mechanisms of lysosomal storage diseases (LSD) and how they culminate in similar clinical pathologies [...].

[A woman with a painful and enlarged tongue]. / Een vrouw met een pijnlijk vergrote tong.

A 53-year-old woman presented with painful macroglossia and periorbital papules. Based on this clinical features and biopsies the diagnosis of nodular amyloidosis was established. Further analysis revealed that multiple myeloma was the underlying hematological disorder.

Macroglossia / Macroglosia

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Videolaringoscopio King Vision®, ¿una alternativa en la intubación del paciente despierto? / Videolaryngoscope King Vision™, an alternative in the intubation of the awake patient?

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Successful Treatment of Macroglossia Due to Lymphatic Malformation With Sirolimus.

OBJECTIVE: To evaluate the effectiveness and safety of sirolimus therapy in a child with macroglossia due to lymphatic malformation. METHODS: Sirolimus treatment was applied to the patient with an initial dosing of 0.8 mg/m2 per dose, administered orally, twice daily at approximately 12-hour intervals. RESULTS: After 9 months of sirolimus therapy, there was a nearly complete resolution of lymphatic malformation. The last evaluation was performed 6 months after withdrawal of treatment, and the lesion had almost completely resolved. CONCLUSION: This article presents a novel approach to the treatment of lymphatic malformation of the tongue using sirolimus, which appears to be safe and effective for the management of complex cases.

Response of glandular organs to experimental macroglossia.

Response of glandular organs to tongue enlargement was studied in 16 outbred male rats; each of them received injections of hydrophobic polyacrylamide gel (0.05 ml) in midline of the tongue. Changes in the studied glandular organs of external secretion (salivary glands) and internal secretion (thyroid and adrenal glands) were morphometrically detected.

The effects of macroglossia on speech: a case study.

This article presents a case study of speech production in a 14-year-old Amharic-speaking boy. The boy had developed secondary macroglossia, related to a disturbance of growth hormones, following a history of normal speech development. Perceptual analysis combined with acoustic analysis and static palatography is used to investigate the specific articulatory compensations arising from the macroglossia. The subset of sounds chosen for study were the denti-alveolar and alveolar plosives, fricatives, ejectives, nasal, lateral and trill produced in single words, as well as in short phrases. The phonetic analysis revealed both spatial and temporal atypicalities in the realisations of the sounds in question. Speaking rate was slow relative to his peer's speech and attempts to increase speech rate resulted in dysfluent speech. Given the phonological system of Amharic, however, the atypical segmental realisations, while reducing both the intelligibility and acceptability of the participant's speech production, did not result in loss of phonological contrasts.

Anterior tongue reduction surgery for paediatric macroglossia.

OBJECTIVE: Anterior tongue reduction is indicated when macroglossia causes problems with oral hygiene, airway compromise, deglutition, articulation or orthognathic complications. Causes of macroglossia include hypothyroidism, mucopolysaccharide and lipid storage disease, lymphangioma, haemangioma, neurofibroma, and muscular macroglossia. This paper presents an 11-year experience of anterior tongue reduction at Great Ormond Street Hospital. METHOD: Retrospective study of patient medical records identified from the hospital ENT database. Anterior wedge resection was the preferred technique. RESULTS: Anterior tongue reduction was performed on 18 patients, due to cystic hygroma with tongue involvement (nine patients), Beckwith-Wiedemann syndrome (eight) and Down's syndrome (one). Anterior wedge resection was preferred, using electrocautery in the majority, except for four cases involving CO2 laser. All but one patient had a good surgical outcome (i.e. tongue in mouth at rest). One patient subsequently required multiple laser procedures for recurrent macroglossia. CONCLUSION: Anterior tongue reduction can be a safe procedure, with limited post-operative morbidity, consistently resulting in good surgical outcomes and improvement in macroglossia symptoms. Speech development does not appear to be adversely affected.

Macroglossia - not always AL amyloidosis.

AL amyloidosis and transthyretin (ATTR) amyloidosis are the most frequent forms of systemic amyloidosis diagnosed in the United States. Macroglossia is considered to be a pathognomonic feature of AL amyloidosis. We report on two cases of systemic amyloidosis with macroglossia that defied routine clinical diagnosis, in which the deposits were typed as ATTR in one case and AL in the other using immunoelectron microscopy. These cases highlight: (1) the difficulty of typing amyloidosis on clinical criteria alone; (2) the utility of immunoelectron microscopy and (3) that macroglossia, while occurring much more frequently in AL, can also accompany ATTR amyloidosis.

Angioedema associated with dihydropyridine calcium-channel blockers in a child with Burkitt lymphoma.

PURPOSE: A case of severe macroglossia and angioedema in a child with Burkitt lymphoma who was treated with two dihydropyridine calcium-channel blockers is reported. SUMMARY: An eight-year-old white boy arrived at the pediatric emergency department with complaints of abdominal pain and distention after an episode of mild abdominal trauma. Physical examination results were significant for diffuse abdominal tenderness and distention, with a large palpable mass in the right quadrants. Computed tomography revealed a large abdominal mass, and a biopsy confirmed a diagnosis of Burkitt lymphoma. Before initiation of chemotherapy, the child developed tumor lysis syndrome, with subsequent renal failure and cardiorespiratory compromise. Once the patient was stabilized and sedated on mechanical ventilation, tumor-directed chemotherapy was initiated, and rapid tumor regression ensued. To control episodes of hypertension, nicardipine was initiated and titrated to achieve the blood pressure goals. Three days after initiation of nicardipine therapy, the child developed facial swelling and significant, protruding macroglossia. Eight days after nicardipine initiation, a tracheotomy was required due to upper airway obstruction; at that time, the patient was converted to amlodipine administered via nasogastric tube for continued blood pressure control. The boy's macroglossia persisted for another 18 days, until a multi-disciplinary drug therapy review resulted in the discontinuation of amlodipine. Within one week of the withdrawal of amlodipine, the child's macroglossia was completely resolved. CONCLUSION: An eight-year-old boy with Burkitt lymphoma developed severe macroglossia and angioedema when treated with nicardipine. The reaction persisted throughout treatment with amlodipine and resolved quickly after amlodipine was withdrawn.

Upper lip bite test in a patient with McCune Albright syndrome with acromegaly.

We report a patient with McCune Albright syndrome with acromegaly and features predictive of difficult airway except a class I upper lip bite (ULB) test. Our patient, a 33-year-old woman, had a history of polyostotic fibrous dysplasia. Tracheal intubation was performed under general anaesthesia. Although we did not find any difficulty in visualizing the glottis by direct laryngoscopy; our patient had multiple poor predictive signs of airway assessment including a Mallampati grade III, restricted neck movement and macroglossia. Our report suggests that the ULB test in people with acromegaly may act as an indicator of easy intubation in spite of other poor predictive signs. However, this finding needs further corroboration by a large study to evaluate the role of the ULB test in people with acromegaly.

A modified keyhole technique for correction of macroglossia.

The enlarged tongue, or macroglossia, may compromise vital function to the point that surgical correction is necessary. Although earlier procedures simply aimed at reducing tongue bulk, contemporary techniques attempt to decrease lingual dimension yet preserve critical neurosensory function. Still, modern approaches advise a broad variety of differing incisions and propose excision of various anterior, lateral, central, or circumferential lingual tissues. The keyhole technique allows direct excision of midline musculomucosal tissue along the tongue's length. With this central tongue-reduction procedure, significant lingual resection is possible and crucial tongue function and neurovascular structure are maintained. In this article, as a supplement to our video demonstration, we describe a modified keyhole technique for macroglossia correction.

Tiroiditis de Hashimoto: microcirculación lingual y labial en pacientes afectados por macroglosia / Hashimoto's thyroiditis: lingual and labial capillary microcirculation in patients affected by macroglossia

The aim of this study is to estudy lingual and labial microcirculation differences among healthy subjects and those with Hashimoto's thyroiditis affected by macroglossia. Twenty healthy patients and 20 patients suffering from Hashimoto's thyroiditis were examined. Labial and lingual capiUaroscopy were used to investigate the characteristics of microcirculation. For each patient we evaluated visibility, course, tortuosity and the possible presence of microhaemorrhages, average calibre of capillary loops and the number of visible capillary loops per square millimetre. The investigations of the labial and lingual mucous were simple, non invasive and repeatable for each patient. In Hashimoto's thyroiditis patients it was possible to observe a wide vascular architectural disorganisation, morphologic anomalies of the capillary loops, loosening of the U shape, reduced capillary diameter This study shows that capillary alterations in patients suffering from Hashimoto's thyroiditis occur in the labial and lingual mucous microcirculation. In the patients affected by macroglossia a reduced number of capillary density was observed and it was correlated to the deposition of proteinaceous ground substance.

El objetivo de este estudio fue verificar las diferencias en la microcirculación lingual y labial entre sujetos sanos y con tiroiditis de Hashimoto afectados por macroglosia. Fueron examinados 20 pacientes sanos y 20 que sufrían de tiroiditis de Hashimoto. Fue utilizada capiloroscopía labial y lingual para investigar las características de la microcirculación. Para cada paciente examinamos visibilidad, curso, tortuosidad y la posible presencia de microhemorragias, el calibre medio de curvaturas capilares y el número visible de curvaturas capilares por milímetro cuadrado. La investigación de la mucosa labial y lingual fue simple, no invasiva y repetible para cada paciente. En pacientes con tiroiditis de Hashimoto fue posible observar una desorganización arquitectónica vascular, anomalías morfológicas de las curvaturas capilares, pérdida de la forma de U y reducción del diámetro capilar. Este estudio demuestra que las alteraciones capilares en pacientes que sufren de tiroiditis de Hashimoto ocurren en la microcirculación de la mucosa labial y lingual. En los pacientes afectados por macroglosia fue observada una reducción de la densidad capilar y esto está correlacionado a la deposición de...

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

We describe a patient with Duchenne muscular dystrophy (DMD) who additionally suffered from intractable seizures, severe mental retardation, and a marked macroglossia. He also had endocrinologic abnormalities consisting of growth hormone deficiency, delayed puberty, and adrenal hypoplasia. We detected a duplication of DMD exon 18 and flanking introns that caused a frame-shift and was not removed by corrective splicing. A coincident mutation in the FKRP gene was excluded by direct sequencing. Complex DNA rearrangements, deletions, and duplications >100 kb were excluded through microarray-comparative genomic hybridization (CGH), although we were not able to exclude a second coincident mutation with certainty. In conclusion, we present a case of DMD that conflicts with current understanding of genotype-phenotype relations and discuss putative pathogenetic mechanisms for this uncommon phenotype.

Acute exacerbation of macroglossia leading to necrosis of the anterior third of the tongue.

Macroglossia is defined as an enlarged tongue that protrudes beyond the teeth or the alveolar ridge in the resting position. Macroglossia may be classified into generalised and localised based on the extent of tongue involvement. Each of these groups can be subdivided into congenital, inflammatory, traumatic, metabolic and neoplastic lesions [Myer III CM, Hotaling AJ, Reilly JS. The diagnosis and treatment of macroglossia in children. Ear Nose Throat J 1986;65:444-8]. The congenital causes are vascular anomalies such as haemangioma and lymphovenous malformations. We report the case of a large lymphovenous malformation of the tongue in a 17 month old child who developed an acute exacerbation of macroglossia following trauma. This eventually led to necrosis of the anterior third of his tongue requiring a partial glossectomy.