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Results for “Macroglossia”

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PubMed1975

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↗
PubMed1990

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↗
PubMed1989

[Indications for the surgical management of macroglossia in children].

Macroglossia means long or large tongue. Since it is difficult to establish clinical criteria for assessment of the size of the tongue, usually it is related to the size of the mandible. We present the indications for the surgical management of macroglossia in children and we discuss the results after the Becker operation. We also present the results in relation to the preservation of taste, the mobility of the tongue, the restoration of normal speech, disturbances of sensitivity, as well as the timing for the operation.

Adolescent↗
PubMed1978

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↗
PubMed1986

[Macroglossia in plasmacytoma. A case report].

A case of macroglossia is presented the underlying cause of which was a generalized amyloidosis due to a plasmacytoma. Differential diagnosis of macroglossia comprises acromegaly, myxoedema, tumours, allergic reactions, inflammatory diseases, congenital muscular hypertrophy, glycogen storage defects and amyloidosis.

Aged↗
PubMed1985

The Beckwith-Wiedemann syndrome: a longitudinal study of the macroglossia and dentofacial complex.

Case reports provide insights into fundamental mechanisms and also assist clinicians in treatment of similarly affected patients [Pruzansky, 1976]. The present investigation examines the natural history of the macroglossia associated with a case of Beckwith-Wiedemann syndrome (BWS) and its influence on dentofacial development. Facial skeletal growth and tongue size were assessed by analyzing cephalometric radiographs from age 2 months to 7.5 years. The data were compared with cephalometric norms and new normative data derived from 13 patients with cleft lip. The major influence of the macroglossia was protrusion of dentoalveolar structures, particularly in the lower jaw. This resulted in an anterior cross-bite in the primary dentition. In addition, an abnormally obtuse gonial angle was observed increasing the effective length of the mandible. Tongue size in BWS was generally greater than the norm, but the increase with age paralleled the mean growth curve of the tongue in the control. Over time the base of the tongue became longer and the hyoid bone moved posteriorly and inferiorly, allowing for accommodation of the tongue within the oral cavity. The changes in tongue shape and dentofacial morphology support the position that early partial glossectomy should be delayed or abandoned. In cases where tongue reduction is considered necessary, the new cephalometric normative data on tongue size provided herein can be used to establish objective criteria for such surgery.

Aging↗
PubMed1995

Autosomal dominant macroglossia: an addendum to the etiological classification.

There are multiple causes and classifications of macroglossia. We report a new observation of this entity in a mother and her daughter. Together with our previous report in two Mexican families with autosomal dominant transmission, we now expand the current classification with a new category: autosomal dominant macroglossia.

Adult↗
PubMedDate not supplied

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↗
PubMed2007

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.

Adrenal Insufficiency↗
PubMed1977

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↗
PubMed2002

[Development of macroglossia associated with neurosurgery in a seated position].

A case report is presented in which post-operatively a distinct macroglossia including an additional swelling running up to the trachea developed within the framework of a neurosurgical intervention in a seated position. Pathomechanisms and possible therapeutic methods are described and discussed with the help of a review of the literature.

Aged↗
PubMed1988

Macroglossia and ankyloglossia in Beckwith-Wiedemann syndrome.

Since the recognition of the Beckwith-Wiedemann syndrome was first noted in 1963, the number of associated anomalies has vastly increased. The rate of appearance of this abnormality is 1 in 13,5000 births. This article presents a case that includes macroglossia and ankyloglossia along with a bifid uvula and a submucous cleft of the palate. A discussion of treatment follows.

Ankylosis↗
PubMed1989

A tongue resection in macroglossia due to primary amyloidosis.

A lady of 62 years with longstanding macroglossia from primary amyloidosis had the anterior two-thirds of her tongue successfully resected. She had Factor X deficiency. The surgical, anaesthetic and haematological problems encountered are described.

Amyloidosis↗
PubMed1985

Macroglossia: etiologic considerations and management techniques.

Tongue enlargement of varying degrees occurs in many people and often requires no therapy. However, marked tongue enlargement, when present, requires direct intervention. In this case, the otolaryngologist is presented with a dilemma, for the etiology of the problem is often obscure. In many cases, the tongue enlargement is secondary to systemic disease, and medical management is indicated. When tongue reduction is indicated, there are many modalities available. Of these, only excision offers an acceptable functional result with minimal morbidity. Even large protuberant tongues can be reduced with minimum difficulty. The type of tongue excision can be tailored to the involved area and to special patient requirements. The problem of macroglossia is explored and management techniques are reviewed to present an alternative for optimal management of the enlarged tongue.

Acromegaly↗
PubMed2002

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.

A novel form of congenital muscular dystrophy in four unrelated patients is proposed. Congenital hypotonia, markedly increased CK, calf pseudohypertrophy and proximal weakness were common early findings. Two cases were severely affected since infancy and never walked. The phenotypical homogeneity was not very evident until advanced stages of the disease. All the patients showed catastrophic progression of the weakness, severe restrictive respiratory insufficiency, macroglossia, peculiar extreme amyotrophy of hands and feet, and a round and 'puffy' face. All patients became tetraplegic and required mechanical ventilation. Two cases had signs of mild cardiac involvement. The only non-tracheotomised patient died of respiratory complications. No mental retardation or specific brain abnormalities were observed. All patients showed secondary deficit of laminin 2 and up-regulation of laminin 5 in muscle. Expression of -dystroglycan was severely reduced in two available muscle samples. The known loci for congenital muscular dystrophies were excluded in the only consanguineous case by linkage analysis. Clinical, immunohistochemical and genetic findings strongly suggest a distinct entity.

Adolescent↗