Disease relevance of Macroglossia

• Physical examination demonstrated skeletal muscle enlargement, severe proximal muscle weakness, and macroglossia, consistent with amyloid-associated muscle pseudohypertrophy [1].
• Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder with a varying spectrum of clinical manifestations including macroglossia, omphalocele, hemihypertrophy, and a predisposition to a subset of embryonal tumors, most frequently Wilms' tumor (WT) [2].
• Thus amyloid myopathy even without the typical macroglossia and muscle pseudohypertrophy should be considered as one of the neurological causes of respiratory failure [3].
• Also, the type of these malformations was different from those (exencephaly, cleft palate and macroglossia) induced by a known teratogenic dose of vitamin A (1,200,000 IU) [4].
• The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect [5].

Psychiatry related information on Macroglossia

• Infants with plasma thyroxine values of 30 nmol/l or less had a significantly higher incidence of prolonged jaundice, feeding difficulties, lethargy, umbilical hernia and macroglossia, showed more severe delay of bone maturation on a knee radiograph, and had a higher proportion of thyroid agenesis on isotope scan [6].

High impact information on Macroglossia

• Low PIQ correlated with the presence of macroglossia, detected in 13 out of 50 patients [7].
• The occurrence of waxy, purpuric mucocutaneous lesions provides a crucial early pointer to underlying occult plasma cell dyscrasia; the combination of the symptoms of the carpal tunnel syndrome, macroglossia, and specific mucocutaneous lesions is highly characteristic [8].
• Acquired macroglossia due to lopinavir/ritonavir treatment [9].
• CONCLUSION: Mandibular growth retardation, coupled with relative macroglossia in E14 Dmm/Dmm mice, suggests that the concerted development of the palate and lower jaw complex in the mutant is aberrant [10].
• Regimen-related mucositis, oral acute GVHD, the administration of cyclosporine A, and the preexisting macroglossia might be responsible for the formation of granuloma [11].

Chemical compound and disease context of Macroglossia

• Between 1990 and 1992, five keyhole resections for congenital macroglossia were performed on four consecutive children at Texas Children's Hospital, Baylor College of Medicine, Houston. Patients had improved cosmesis and improved function of the oropharyngeal airway, with no change in speech and feeding [12].
• Micrognathia, cleft lip and palate, and macroglossia, which are best depicted with sagittal and coronal views of the face, are also associated with other fetal abnormalities [13].
• Thyroxine replacement therapy was associated with improvement in findings that reflect a compromised upper airway, such as macroglossia (4 [33%] vs. 1 [8%]; P=0.083), myoedema (5 [42%] vs. 1 [8%]; P=0.046) and facial puffiness (10 [83%] vs. 1 [8%]; P=0.003) [14].
• Episodic macroglossia as the sole manifestation of angiotensin-converting enzyme inhibitor-induced angioedema [15].
• Use of a modified occlusal bite guard to treat self-induced traumatic macroglossia (two case reports) [16].

Anatomical context of Macroglossia

• Connective tissue disorder, macroglossia, lower tongue posture, and tongue thrust swallowing have been identified as possible aetiological factors that may determine dysmorphism in the craniofacial complex in this KMS patient [17].

Gene context of Macroglossia

• Studies with the scanning electron microscope (SEM) on E15, 16, and 19 suggested strongly that the micrognathia caused a relative macroglossia and hence mechanical interference with palatal shelf reorientation [18].
• Nodular macroglossia with combined light chain and beta-2 microglobulin deposition in a long-term dialysis patient [19].
• Perinatal mortality can result from complications of prematurity, pronounced macroglossia, and rarely cardiomyopathy [20].
• Resolution of the macroglossia followed treatment with C1 esterase inhibitor concentrate, but the patient failed to wean from ventilatory support and died in the Intensive Care Unit [21].

Analytical, diagnostic and therapeutic context of Macroglossia

• Use of the intubating laryngeal mask in failed intubation associated with amyloid macroglossia [22].

References