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At least 361 records · Page 20Linked to original sources
PubMed1994

Obstructive sleep apnea syndrome in acid maltase deficiency.

A patient with adult acid maltase deficiency (AMD) developed severe obstructive sleep apnea (OSA) and respiratory insufficiency. Weaning failure was followed by diffuse pneumonia and death. At autopsy, profound muscle replacement by fibrofatty tissue was noted in the tongue and diaphragm, while the accessory and nonrespiratory muscles were variably preserved. To our knowledge, this case represents the first detailed clinical description of OSA associated with adult AMD. In addition, we suggest that severe tongue weakness due to fatty metamorphosis, in concert with macroglossia, provides a unique pathophysiologic mechanism for OSA.

Glucan 1,4-alpha-Glucosidase↗
PubMed1985

Sleep apnea in amyloidosis.

Obstructive sleep apnea (OSA) occurs in patients with narrowing of the pharyngeal airway due to a variety of pathologic conditions. We documented obstructive and mixed sleep apnea in a patient with narrowing of the airway caused by macroglossia associated with amyloidosis. Tracheostomy relieved the symptoms of OSA (hypersomnolence, confusion upon awakening, and hyperkinesis during sleep) despite the emergence of striking central sleep apnea following the procedure.

Aged↗
PubMed2006

Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.

We describe a female infant who developed transient neonatal diabetes mellitus (TNDM) (MIM 601410). At birth she presented with growth retardation and macroglossia. Diabetes was diagnosed on the fourth day of life and it resolved after two months of insulin therapy. Genetic testing revealed the presence of paternal uniparental disomy of chromosome 6 (UPD6) including heterodisomy of 6q24. This is the first documented case of uniparental heterodisomy for chromosome 6.

Chromosomes, Human, Pair 6↗
PubMed2003

Clinical treatment of oral manifestations of Beckwith-Wiedeman syndrome in a child.

Orthodontic treatment in a young patient with Beckwith-Wiedeman Syndrome (BWS) is reported and a multidisciplinary approach to the management of this syndrome is reviewed. The patient presented with a tendency to Class III malocclusion, an open-bite and a slight macroglossia, which was treated at an early age by glossotomy. It was decided to monitor growth without treatment and to wait for the best time to begin therapy. It was based only on functional rehabilitation, without any fixed appliances, in which optimum intercuspation of the teeth and the skeletal Class I relationship was achieved and maintained after the retention period of three years. In conclusion the treatment of BWS patients requires a multidisciplinary approach that includes orthodontics, orthopaedics and surgical intervention. It is also necessary to underline the significance of diagnosis at an early age and timely treatment to reduce the development of dento-skeletal alterations.

Adolescent↗
PubMed1991

Speech disorders in systemic amyloidosis.

The purpose of this study was to define more completely the speech disorders that can occur in systemic amyloidosis. Fifty-nine patients with histologically established primary systemic amyloidosis were studied. Of this group, 81% had abnormal voice quality, 43% had abnormal pitch, 7% had abnormal resonation and 15% had abnormal articulation. Twenty-two patients also had abnormal findings at laryngeal examination, consisting of bowing, oedema, thickening, dry irritation and polypoid changes of the vocal folds. Macroglossia was found in 17% of the patients and submandibular swelling in 10%. These results support previous studies which showed that abnormal phonation is a sign of systemic amyloidosis and that abnormal voice is by far the most common abnormal speech sign. The relationship between amyloid deposit and dysphonia was not clear. In 23 patients who had laryngeal examinations, no evidence of actual amyloid deposits was documented.

Adult↗
PubMedDate not supplied

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.

Child, Preschool↗
PubMed2000

Congenital macroglossal angiodysplasia ("Lymphangioendotheliomatosis").

A case of congenital lingual angiodysplasia with macroglossia in a 5-year-old girl is presented. A diffusely enlarged tongue was present at birth and continued to grow as the child aged. It was accompanied by impaired speech, difficulty in eating and breathing, and sleep apnea, necessitating surgical intervention. The fundamental lesion represents a complex vascular malformation of the lymphangioma-hemangioma type, involving extensively the deep musculature of the tongue. Multifocal and multicentric cavernous lymphangioma-like and hemangioma-like areas merge with benign angioendotheliomatous-like foci in a background of variable muscle degeneration and marked fibrosis. Neither a borderline nor an overtly malignant vasoformative neoplasm was present. Because of its distinctively widespread, multicentric intramuscular distribution, this lesion may be construed as a diffuse variant of lingual lymphangioma-hemangioma malformation, closely resembling a previously described case of macroglossal lymphangioendotheliomatosis.

Arteriovenous Malformations↗
PubMedDate not supplied

Adult orthodontic treatment: a challenging case report.

The case of a 61-year-old woman with a primary diagnosis of spondyloepiphyseal dysplasia and severe maxillary and mandibular spacing as well as anterior and posterior crossbites is presented. Clinical findings led to a diagnosis of macroglossia which required partial glossectomy in addition to comprehensive orthodontic treatment to correct malocclusion.

Dental Care for Chronically Ill↗
PubMed2000

Extensive haemorrhagic-bullous skin manifestation of systemic AA-amyloidosis associated with IgGlambda-myeloma.

In an 86-year-old woman with a multiple myeloma of the IgG lambda subtype a coinciding systemic amyloidosis manifested as a macroglossia, diffuse alopecia and generalized cutaneous involvement. The skin was affected by milium-like papules, petechial haemorrhages and an increased tissue fragility with subsequent blister formation. The typical histology and immunohistology pattern revealed large intradermal amyloid masses, reacting positively with anti-amyloid A antibodies, which surrounded cuff-like dilatated blood capillaries. The abundance of these amyloid deposits led to significant deflexibilization and fragility of the capillaries and the dermal matrix eventually resulting in the haemorrhagic-bullous eruptions. The peculiar feature of the present case is the intensity of bullous-haemorrhagic skin damage due to amyloid A deposition without any detection of cutaneous IgGl as the myeloma-derived paraprotein assumed to be causative for the development of systemic AA amyloidosis.

Aged↗
PubMed2000

Surgical alternatives for treatment of obstructive sleep apnoea: review and case series.

Obstructive sleep apnoea (OSA) affects up to 24% of middle aged males, resulting in excessive daytime sleepiness, cognitive dysfunction, hypertension, increased risks for acute coronary events, stroke and auto accidents. At special risk are individuals with BMI greater than 29, neck circumference greater than 43 cm (17 inches), macroglossia and retrognathia. Although non-surgical nasal positive air pressure (nCPAP) and mandibular advancement oral appliances are often effective and are the most widely used therapy, they are not definitive for more severe OSA and patients show poor long-term compliance. Surgical reduction of palatal, lingual and nasal soft tissue volumes improve airway functions in approximately 40% of patients with mild to moderate OSA. Maxillary and mandibular advancement osteotomies have proven over the past decade to reverse even severe OSA at greater than the 90% efficacy levels. Surgical treatment targeted to skeletal and airway soft tissue anomalies using a multidisciplinary treatment approach can have a major impact on this widespread and high-risk disorder.

Adolescent↗
PubMed2001

[Anesthetic management in a patient with Simpson-Golabi-Behmel syndrome].

We report the anesthetic management of a 4-yr-old boy with Simpson-Golabi-Behmel syndrome. This syndrome is an X-linked condition characterized by pre- and postnatal overgrowth with visceral and skeletal anomalies. Affected males have a distinctive facial appearance with wide nasal bridge, anteverted nostrils, wide-open mouth, enlarged tongue, and large protruding maxilla and jaw. Although it had been speculated preoperatively that airway management would be complicated by the macroglossia, there was no difficulty in endotracheal intubation in the present patient. Preparations for difficult airway management should be made by the anesthesiologist before induction of anesthesia.

Abnormalities, Multiple↗
PubMed2002

[A neonate with Beckwith-Wiedemann syndrome who developed upper airway obstruction after glossopexy].

We report a case of a female neonate with Beckwith-Wiedemann syndrome who manifested upper airway obstruction soon after birth and suffered from intractable hypoglycemia and abdominal distention caused by nephromegaly. She was delivered at 31 weeks of gestation with 2480 g and was diagnosed as Beckwith-Wiedeman syndrome, manifesting macroglossia, hepatomegaly, nephromegaly and omphalocele. Her trachea was intubated 30 minutes after birth due to upper airway obstruction. At 12 days of life, glossopexy was performed to relieve the airway obstruction. Although tracheal extubation was successfully accomplished 12 days later, 21 days after the glossopexy she manifested apnea and hypoxia and required tracheal intubation and mechanical ventilation again. We suspected hypoglycemia or central apnea to be the cause of apnea and started the administration of somatostatin analog as a treatment for hypoglycemia. In addition to the apnea, abdominal distention caused by nephromegaly exacerbated her respiratory condition. At 69 days of life she died of sepsis complicated with disseminated intravascular coagulation and renal failure. A needle biopsy at autopsy revealed nephroblastomatosis.

Airway Obstruction↗
PubMedDate not supplied

Dental characteristics of patients with Duchenne muscular dystrophy.

A comprehensive assessment of the dental characteristics of 23 patients with Duchenne muscular dystrophy (DMD) was carried out, based on dental records, oral examinations and dental models. Decreasing muscle function was associated with increased plaque and calculus accumulation, leading to gingival inflammation, but caries experience was low. Disturbances in tooth form, number and eruption of the second premolars were observed in 39% of patients. Anterior and posterior open bites were common, associated with lip incompetence, mouth breathing, macroglossia and tongue thrusting. Maxillary and mandibular arch breadths were significantly larger, on average, in the DMD group than in controls. Rather than a normal parabolic arch form, the dental arches in DMD patients tended to be hyperbolic, with the posterior teeth being displaced buccally, consistent with an imbalance between the lingual and facial musculature.

Adolescent↗
PubMed1992

Congenital syndromes connected with tongue malformations.

Malformations of the tongue, are structural defects, present at birth and happening during embryogenesis. Developmental anomalies or defects may be major or minor, single or multiple, depending on their size, site and effect. The aim of this study was to present and to describe congenital syndromes which are associated with tongue malformations and to classify these malformations in groups, according to the tongue's clinical manifestations. The most common malformations of the tongue combined with syndromes associated with them, are fully discussed in this review article. Malformations of the tongue which are discussed in this review article, have been classified in the following categories: 1. Aglossia 2. Microglossia 3. Tongue hemiatrophy 4. Tongue hemihypertrophy 5. Macroglossia 6. Long tongue 7. Ankyloglossia 8. Cleft or bifid tongue 9. Syndromes that affect tongue and cannot be classified in a special condition Each category is discussed separately in this article.

Atrophy↗
PubMed2003

[Seip Berardinelli: the effect of the partial tongue resection].

The Seip Berardinelli or undiagnosed endocrine metabolic syndrome is a rare autosomal recessive pathology mainly described in families of Portuguese origins. This syndrome presents various metabolic disturbances responsible of various dysmorphies. We report the case of two brothers seen during their childhood for respiratory, speaking and feeding problems related to a class 3 of Angle and macroglossia. The object was to study the interaction between the size of the tongue, the prognathism and the disturbances presented in order to organize early surgery (partial glossectomy).

Child↗
PubMed1992

[Anesthetic management for partial tongue resection in a patient with Beckwith-Wiedemann syndrome].

A 14-month-old baby weighing 4300 g was a giant infant with macroglossia. Exomphalos was not present, but diastasis recti abdominis was observed. The patient was therefore diagnosed as having Beckwith-Wiedemann syndrome (EMG syndrome). Other characteristic signs such as neonatal hypoglycemia, hemihypertrophy, and a small ventricular septal defect were also recognized, but nephromegaly or hepatomegaly was not present. Tongue reduction by wedge resection was performed under general anesthesia. Some of the problems associated with anesthetic management in this syndrome are hypoglycemia, airway obstruction and cardiovascular status. After induction with increasing concentration of halothane (0.5-4.0%) and 66% nitrous oxide in oxygen, a nasotracheal tube was inserted. Endotracheal intubation was easy without using a neuromuscular blocking agent. Anesthetic maintenance was accomplished with nitrous oxide 66% in oxygen and halothane 0.5-1.0% and no neuromuscular blocking agent was used. The plasma glucose level was kept within normal ranges during and after the operation by infusion of acetate Ringer's solution with 5% glucose. The postoperative progress was uneventful.

Anesthesia, Inhalation↗
PubMed2006

[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.

Child, Preschool↗