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[Macroglossia and amyloidosis. Apropos of a case].

In the present treatise, a classification scheme for macroglossia has been formulated, based on clinical and etiological features of an enlarged tongue. The pathogenesis of each form-type of macroglossia is then described. In addition to, the authors report a case of female patient suffering from macroglossia, who was admitted in their Clinic. This pathological condition was the single and the very first clinical sign (symptom) of her, and (which) led up to the diagnosis of amyloidosis. They present the procedure of the diagnosis and differential diagnosis for this patient, they emphasize their conclusions (considerations) and make comments on the coexistence or correlation of macroglossia with amyloidosis.

Aged

[Differential diagnosis of macroglossia].

In addition to a survey of differential diagnoses to be considered in cases of macroglossia, rare general disorders connected with macroglossia are pointed out. As shown especially in a case of primary amyloidosis, recognition of and differential diagnostic considerations with regard to macroglossia sometimes make it possible to diagnose a general disorder not yet recognized.

Acromegaly

Episodic macroglossia in Down's syndrome.

We report a unique case of recurrent gross enlargement of the tongue associated with lymphangiectasia and tongue protrusion in an adult male with Down's syndrome. There were three episodes of acute macroglossia with no clinically identifiable cause. Spontaneous resolution always occurred after five to six days. Histological examination of the tongue, at post mortem, revealed a primary lesion of the lingual lymphatics. The possible mechanisms of acute macroglossia and the surgical techniques which could have been used to reduce the tongue bulk are discussed.

Acute Disease

The efficacy of tongue resection in treatment of symptomatic macroglossia in the child.

Nine patients with symptomatic macroglossia, 3 with Beckwith-Wiedemann syndrome, 3 with Down's syndrome, and 3 with lymphatic malformation of the tongue, were evaluated for postoperative improvement following partial glossectomy. Symptoms evaluated were speech intelligibility, oral competence at rest, drooling, and normal deglutition. All patients with Down's syndrome and Beckwith-Wiedemann syndrome were improved postoperatively. All patients with Down's syndrome exhibited improved deglutition and reduced drooling. Only 1 patient (33%), however, achieved oral competence. Speech was improved postoperatively in 2 patients (67%) with Down's syndrome. Patients with lymphatic malformation of the tongue did not exhibit consistent long-term improvement postoperatively, suggesting that conservative management of macroglossia in this patient group may be indicated.

Adolescent

Macroglossia and amyloidoma of the buttock: evidence of systemic involvement in dialysis amyloid.

A 48-year-old male on cuprophane haemodialysis for 18 years, with a history of dialysis arthropathy and recurrent carpal tunnel syndrome developed macroglossia and bilateral buttock tumoral masses. The tongue and buttock masses were biopsied. Histology of both biopsies showed amyloid deposits of the beta 2-microglobulin (B2M) variety. Amyloidomas in the gluteal region and macroglossia have not been previously described in amyloid derived from B2M. These findings suggest that systemic B2M amyloidosis can have a similar tissue distribution to AL amyloidosis. This case also stresses the importance of inspection of the tongue, and palpation of the gluteal region for masses, in the assessment of patients with dialysis arthropathy.

Amyloid

Macroglossia, transient neonatal diabetes mellitus and intrauterine growth failure: a new distinct entity?

A newborn infant, small for her gestational age with macroglossia and transient insulinopenic diabetes mellitus is described. Two similar cases have been found in the literature. Flat glucose tolerance test results were found in the mother, the mechanism of which was not disclosed; there was no evidence of hyperinsulinism or malabsorption syndrome and the response of plasma growth hormone, and cortisol, and of urinary epinephrine to insulin-induced hypoglycemia was adequate. It is suggested that the triad of intrauterine growth retardation, macroglossia, and transient neonatal diabetes mellitus constitutes a distinct clinical entity. The link to the maternal abnormalities of carbohydrated homeostasis remains speculative.

Blood Glucose

Macroglossia: a review.

Macroglossia is defined as a resting tongue that protrudes beyond the teeth or alveolar ridge. Complications of macroglossia include articulation errors, mandibular deformities, deglutition difficulties, and airway obstruction. Etiologies include hypothyroidism, the Beckwith-Wiedemann syndrome, lymphangiomatosis, and amyloidosis. Surgical correction of this condition at an early age may prevent or minimize the maxillofacial deformities and speech defects.

Humans

Surgical correction of macroglossia in Beckwith-Wiedemann syndrome.

Two cases of Beckwith-Wiedemann syndrome have been reported. The children were large at birth and had an umbilical defect and macroglossia. After considering several alternatives, the elliptical (modified Butlin-Handley), U-shaped excision was used in case 1 for the following reasons: symmetry and minimal disturbance of muscle attachment, reduction of thickness without reduction of width, and reduction in length of the tongue. Use of the V-shaped excision proved most advantageous in the second case where length, rather than thickness, was the only problem. It was hoped that partial glossectomy at an early age might help circumvent the attendant sequelae of macroglossia in patients with Beckwith-Wiedemann syndrome.

Abnormalities, Multiple

Macroglossia in the Beckwith-Wiedemann syndrome.

An infant with the Beckwith-Wiedemann syndrome is described, with emphasis placed on the occurrence of macroglossia and possible maxillofacial deformities. In addition to placing the syndrome among the clinical entities which result in macroglossia, attention is also brought to concurrent metabolic disorder through hypoglycemia and possible late-occurring visceral malignancy which may produce significant patient compromise.

Abnormalities, Multiple

Macroglossia in acromegaly and hypothyroidism.

The tongues of two patients with macroglossia were examined at autopsy. One of the patients had acromegaly and the other had hypothyroidism. To evaluate the size of the enlarged tongues, the average weight of the tongue in the human adult was determined first in a series of 20 unselected autopsies, 10 males and 10 females (ages 44 to 85). The weight of the tongue was greater in males than in females and was directly correlated with the height of the subject. Cachexia had relatively little effect on the weight. In acromegaly (case 21) and myxedema (case 22) the tongue was enlarged by at least 50%. Histopathology showed enlargement of muscle fibers especially anteriorly in acromegaly and hypothyroidism, thickening of the epithelium and increased subepithelial and interstitial connective tissue. Incidental findings included venous thrombi and telangiectasia in the subepithelial connective tissue in both hypothyroidism and acromegaly and a corpus amylaceum and two islands of hyaline cartilage in the tongue of hypothyroidism.

Acromegaly

A method of repair for unilateral macroglossia. Case report.

A method is described for the operative correction of unilateral macroglossia. The method permits the tongue to be reconstructed so that it assumes a relatively normal size and shape. The scar is led out to the lateral border of the tongue so that the reconstructed tip retains sensation.

Female

Lymphangiomatous macroglossia.

Lymphangiomatous macroglossia, or giant tongue, usually presents within the first two years of life. The tongue enlarges to the point of protrusion from the mouth with resultant ulceration and frank necrosis of the tip. There may be associated malocclusion and prognathia produced by the enlargement of the tongue. The pathology and clinical manifestations of lymphangioma of the tongue are discussed in this paper, and a case report is presented.

Child

Familial macroglossia-omphalocele syndrome.

A kindred is reported in which 8 infants were affected with the macroglossia-omphalocele syndrome. Their characteristics varied from an almost complete clinical picture to nodular hyperplasia with cytomegaly of the adrenals as the only manifestation of the disease. Chromosome analysis was normal. This syndrome appears to be inherited as an autosomal recessive trait, with a high proportion of incomplete clinical forms. The index patient also has signs of the Rubinstein-Taybi syndrome. The simultaneous occurrence of these two syndromes is probably a fortuitous event.

Adrenal Glands