Symmetrical lipomatosis of the tongue is an extremely rare condition. To date, only eight cases have been reported in the literature. We present an extremely rare case of intramuscular lipomatosis of the tongue in a 67-year-old male. The present case is unique because of its infiltrating nature and the extension of the lesion. Glossectomy was performed to reduce the size of the tongue and for d...

the typical findings of short stature, enlarged head, broad nose, thickened lips, and macroglossia. He had deficient iduronate 2-sulfatase enzyme activity in white cells. He had been receiving weekly i.v. enzymatic replacement therapy A 62-year-old man with chronic atrial fibrillation was admitted to hospital with dyspnea on effort. He had a medical history of mucopolysaccharidosis type II (MPS...

Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism,...

OBJECTIVES The aim of this study was to develop an effective single intraoral, minimally invasive technique to reduce the enlarged tongue base in children with obstructive macroglossia. METHODS We present the anatomic dissection of fresh cadavers and a representative case series of children who underwent submucosal minimally invasive lingual excision (SMILE) with a plasma-mediated radiofreque...

Beckwith-Wiedemann syndrome (BWS) is a clinically variable disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, visceromegaly, and an increased susceptibility to childhood tumors. The disease has been linked to a large cluster of imprinted genes at human chromosome 11p15.5. A subset of BWS patients has been identified with loss-of-function mutations in p57(KIP2), ...

INTRODUCTION Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of α-l-iduronidase. The otolaryngological findings include hearing loss, otorrhea, recurrent otitis, hypertrophy of tonsils and adenoid, recurrent rhinosinusitis, speech disorders, snoring, oral breathing and nasal obstruction. OBJECTIVE To evaluate the impact of enzymatic replacement therapy with lar...