China
Africa
Explore chapters and articles related to this topic
Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Skeletal muscle disease is prominent in all infantile patients. It is manifested by marked hypotonia and weakness associated with diminished or absent deep tendon reflexes. The clinical picture may be suggestive of amyotonia congenita [21]. Muscle mass is normal, but the muscles may feel hard. Classically, the tongue is enlarged. A protuberant tongue (Figures 60.7 and 60.10) with failure to thrive, hypotonia, a protuberant abdomen, and possibly an umbilical hernia may suggest a diagnosis of hypothyroidism or Down syndrome. Macroglossia is caused by infiltration of the muscle fibers of the tongue with glycogen, but macroglossia is noted in fewer than half of patients. Among 12 adult-onset patients 11 had ptosis [22]; it was the presenting feature in three.
Simpson–Golabi–Behmel Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Distinctive facies include (i) macrocephaly (70% of cases); (ii) ocular hypertelorism, epicanthal folds, downslanting palpebral fissures, strabismus or esotropia, cataracts, coloboma of the optic disc, ocular nerve palsies; (iii) redundant, furrowed skin over the glabella; (iv) wide nasal bridge and anteverted nares in infants, broad nose in older individuals; (v) macrostomia (abnormally large mouth); (vi) macroglossia (abnormally large tongue); (vii) dental malocclusion; (viii) midline groove in the lower lip and/or deep furrow in the middle of the tongue; (ix) cleft lip and/or submucous cleft palate (with a bifid uvula, 13%), high and narrow palate; (x) micrognathia (small mandible) in neonates, macrognathia in older individuals; (xi) preauricular tags, fistulas, ear lobule creases, helical dimples [2].
Peculiarities in surgical treatment in childhood: Can we ignore?
Published in Byung-Boong Lee, Peter Gloviczki, Francine Blei, Jovan N. Markovic, Vascular Malformations, 2019
The tongue is frequently involved. Macroglossia with associated mucosal bleeding vesicles, halitosis, pain, and dental malocclusion must be treated early. Radiofrequency ablation, CO2 laser fulguration, and glossectomy can be safely performed in the first years of life in order to prevent mandibular distortion and speech disorders.
Macroglossia secondary to lisinopril-induced acute angioedema
Published in Baylor University Medical Center Proceedings, 2019
Colten Ducote, Matthew J. Kesterke, Ritesh Bhattacharjee, Andrew Read-Fuller, Likith V. Reddy
Macroglossia is a clinical condition resulting in enlargement of the tongue beyond the anterior teeth.1 The condition is caused by vascular anomalies, allergic reactions,2,3 or congenital conditions.4–8 Angiotensin-converting enzyme inhibitors (ACEIs) are the most common medication causing angioedema.9,10 Studies found that the incidence of ACEI angioedema is higher in older adults, patients with chronic heart failure, and African American women.11 ACEIs also inhibit the kallikrein-kinin system from degrading bradykinin, leading to increased vasodilation.12,13 Angioedema can cause significant swelling, resulting in acute airway obstruction and eventual death.5,12,14 Partial glossectomy is a valid treatment option for macroglossia that does not resolve with medication.5,7 This case report documents the diagnoses and surgical treatment of two cases of ACEI-induced angioedema and macroglossia treated at Baylor University Medical Center (BUMC) at Dallas.
Macroglossia in primary lateral sclerosis: a case report
Published in International Journal of Neuroscience, 2019
In 2013, McKee et al. reported that two patients with ALS who had developed macroglossia. In that study, both patients initially showed tongue atrophy; after tracheostomy and continuous mechanical ventilation had been applied, they eventually developed macroglossia. A tongue biopsy and an MRI scan of the patients revealed atrophy of the tongue muscles and fatty replacement, resulting in macroglossia. Similarly, Matsuda et al. also reported 22 patients out of 65 advanced ALS patients with tracheostomy and continuous mechanical ventilation (33.8%) showed macroglossia. The same author group also reported that the majority of patients with macroglossia (93.3%) had undergone tracheostomy and received continuous mechanical ventilation for more than five years in another study [3].
Utility of the 18F-Florbetapir positron emission tomography in systemic amyloidosis
Published in Amyloid, 2018
Jaume Mestre-Torres, Carles Lorenzo-Bosquet, Gemma Cuberas-Borrós, Mercedes Gironella, Roser Solans-Laque, Andreu Fernández-Codina, Segundo Bujan-Rivas, Joan Castell-Conesa, Fernando Martínez-Valle
PET correctly identified the presence of thyroid disease. It also showed tongue involvement despite patients not having macroglossia. Lung involvement was present in 1 patient without previous clinical suspicion. Stomach involvement could not be proven using FBP.