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 [...].

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.

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.

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.

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.

[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.

[Method of tongue size reduction with maintenance of taste and other types of sensitivity].

All known operations for tongue size reduction in cases of macroglossia foresee end and part of back tongue excision. In this case patient will get rid of gustatory and other types of sensitivity and it is considered inevitable. Method is described to reduce tongue size allowing preserve all types of sensitivity. During the operation of end tongue excision narrow part of its edge is left in the form of mucous-muscle flap on feeding stem. Scheme of the operation is described.

Amyloidosis with oral involvement.

Amyloidosis is a disease complex in which amyloid fibrils, formed from various serum proteins, may be deposited in a local or systemic distribution. When this deposition affects vital organs the disease usually is fatal because there is no effective treatment. This paper reports a case of amyloidosis with oral involvement and discusses recent advances concerning the properties of amyloid fibrils and the various pathogenic mechanisms responsible for their formation.

Primary amyloidosis causing macroglossia and respiratory symptoms.

Amyloidosis may involve the tongue, causing macroglossia. Such a case is described which resulted in airway obstruction. The subsequent management was by permanent tracheostomy.

Severe dental open bite malocclusion with tongue reduction after orthodontic treatment.

We treated a 21-year-old woman with a severe open bite and macroglossia with a standard edgewise appliance and without partial glossectomy. This was followed by retention using a Begg-type plate retainer for the upper dental arch and a fixed canine-to-canine for the lower arch. A crib was added to the upper plate retainer for suppression of a tongue thrust. The lower arch relapsed during the retention period, with a widening of the intermolar distance, flaring of the anterior teeth, and increased mobility of the teeth. We chose tongue reduction to resolve these problems and one-third of the middle dorsal part of the tongue was excised. After the tongue reduction, the patient experienced no functional problem in mastication, swallowing, and gustation, but she complained of mild speech difficulty and slight pain on the dorsal portion of her tongue. These symptoms disappeared 6 months after surgery. At this time, the mandibular dental arch was markedly improved. The flared lower dental arch had returned to an upright position and the tooth mobility reduced to normal. No appliance was used after surgery. Most of the recovery changes occurred within 4 months. This case highlights the importance of the teeth tending to move toward a balance between the tongue pressure from the inside and labio-buccal pressure from the outside.

Influence of surgical tongue reduction on pressure from the tongue on the teeth.

Pressures from the tongue on the teeth were recorded in 21 children and adolescents before and after surgical reduction of the tongue. The recordings were made before surgery, and 6 and 12 months after the operation. Simultaneous measurements were made at the lingual surfaces of the maxillary and mandibular central incisors and at the left first molar, in the rest position and during chewing and swallowing. The method had been used in a previous study of normal cases, which served as a reference. Presurgical pressures recorded in the rest position at the maxillary incisors agreed with measurements recorded in the same location in the reference sample. Measurements recorded during rest in the other locations were somewhat higher than those of the reference group. Pressures recorded before the surgery during chewing and swallowing varied from similar measurements made in the reference group. At the recording 6 months after surgery, resting pressures at the molars were lower than they had been presurgically. No significant differences were found for pressures during chewing. A lower pressure was recorded in one location during swallowing. At the recordings made 12 months after surgery none of the pressures differed significantly from the presurgical values. Resting pressures were, however, lower than they had been before surgery and were closer to those of the reference sample.

Oral manifestations of Beckwith-Wiedemann syndrome.

A report of case of a patient with Beckwith-Wiedemann syndrome is presented. The macroglossia associated with the syndrome necessitated long-term dental follow-up to prevent and treat problems with occlusion, speech, and esthetic appearance that might develop. Early intervention might be required if feeding or respiratory difficulties, resulting from the macroglossia, arise. The diagnosis of the syndrome should alert the dentist to the increased incidence of intra-abdominal malignancies and the need for periodic observation.

[Tongue reduction in children with Down's syndrome; a functional operation]. / Tongreductie bij kinderen met het syndroom van Down; een functionele operatie.

In this article the results of tongue reduction in a group of seven children with Down's syndrome are described. This surgical procedure was performed because of macroglossia, present in all seven children. Postoperatively all children eat and drink better, drooling has stopped and both articulation and phonation have improved. Therefore tongue reduction should be considered a functional operation that can improve the quality of life of the child and its family.

Long term effects of the palatal plate therapy for the orofacial regulation in children with Down syndrome.

The objective of this study was to evaluate long term effects of orofacial regulation therapy with modified Castillo-Morales palatal plate on 68 Down children that attended our Unit from 1992 to 2001. Corrections obtained with palatal plate therapy were evaluated according to the following parameters: spontaneous lingual protrusion based on three level scale, position "open mouth", labial hypotonia and sialorrhea. The results showed distinct improvement in nearly all of the parameters compared to initial conditions.

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.

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.