No abstract available.
Amyloidosis* ; Macroglossia*

Thyroid disorders are prevalent in the paediatric population and untreated hypothyroidism leads to several adverse consequences like mental retardation, neurological impairment, short stature, delayed puberty and increased morbidity. Owing to a wide range of non-specific clinical manifestations, one must have a high index of suspicion for timely diagnosis and treatment of primary hypothyroidism. We describe the case of an adolescent girl who presented with short stature, delayed puberty and feeding difficulties owing to undiagnosed and subsequently untreated hypothyroidism.
Macroglossia ; Puberty, Delayed ; Hypothyroidism

Thyroid disorders are prevalent in the paediatric population and untreated hypothyroidism leads to several adverse consequences like mental retardation, neurological impairment, short stature, delayed puberty and increased morbidity. Owing to a wide range of non-specific clinical manifestations, one must have a high index of suspicion for timely diagnosis and treatment of primary hypothyroidism. We describe the case of an adolescent girl who presented with short stature, delayed puberty and feeding difficulties owing to undiagnosed and subsequently untreated hypothyroidism.
Macroglossia ; Puberty, Delayed ; Hypothyroidism

Study two cases of primary amyloidosis with the pathognomonic symptom of macroglossia , the diagnosis and treatment of primary amyloidosis. The first one presented with lesions of the tongue, peripheral neuropathy and the bone marrow aspiration revealed <30% plasmocyte with neither bone destruction nor heart, kidney injury. The second case showed diffuse infiltration of amyloid, not only caused the macroglossia but also led to the injury of the heart, pleura, kidneys, subcutaneous tissues, and the autonomic nervous system with postural hypotension
Amyloidosis ; Macroglossia ; Hypotension, Orthostatic ; diagnosis ; Therapeutics

We experienced one case of Beckwith syndrome. This one day aged male neonate manifested macroglossia, umbilical hernia, visceromegaly, hypoglycemia, gigantism and polycythemia. A brief review of related literature is also presented.
Gigantism ; Hernia, Umbilical ; Humans ; Hypoglycemia ; Infant, Newborn ; Macroglossia ; Male ; Polycythemia

The tongue is located inside the oral cavity at rest, and the structural interrelations between the tongue and the oral cavity is essentially important for normal tongue function. Macroglossia is clinically diagnosed whenever the tongue does not fit the oral cavity, thus patients complain of noisy breathing, drooling, speech and swallowing dysfunction, malocclusion, and social ridicule. Partial glossectomy for macroglossia volume has been assumed to be difficult. In this study, we attempted to measure the tongue volume with the plaster tongue model in a 7-year-old macroglossia patient. This method is reliable and simple for measuring the tongue volume in macroglossia.
Child ; Deglutition ; Glossectomy* ; Humans ; Macroglossia* ; Malocclusion ; Mouth ; Respiration ; Sialorrhea ; Tongue*

Beckwith-Wiedemann sydrome is a multisystemic pattern of congenital anomalies with overgrowth. This syndrome is first described independently by Beckwith in 1963 and by Wiedemann in 1964. There is wide spectrum of clinical manifestations, including prenatal or postnatal overgrowth, neonatal hypoglycemia, macroglossia, visceromegaly, omphalocele, hemihypertrophy and a predisposition for embryonal tumors, most frequently Wilms' tumor. We experienced a case of Beckwith-Wiedemann syndrome who developed left adrenal cortical neoplasm of indeterminate malignant potential.
Beckwith-Wiedemann Syndrome ; Hernia, Umbilical ; Hypoglycemia ; Macroglossia ; Wilms Tumor

Beckwith-Wiedemann Syndrome (BWS) is a rare congenital overgrowth disorder due to alterations in specific genes in chromosome 11p15. It has a variable clinical picture. Infants may exhibit a combination of the following characteristics: macroglossia, macrosomia, abdominal wall defects, ear creases or posterior helical pits, hypoglycemia, polyhydramnios and prematurity. Presented is a case of a 24-year-old gravida 3 para 2 (2002) who manifested with preterm labor and polyhydramnios. She delivered a preterm live baby girl who was diagnosed to have Beckwith-Wiedemann syndrome. The rarity of this condition, as well as the significant maternal and perinatal complications associated with it, is discussed in this paper.

Human ; Female ; Adult ; Infant Newborn ; Pregnancy ; Congenital Macroglossia ; Macroglossia ; Beckwith-wiedemann Syndrome ; Polyhydramnios ; Abdominal Wall ; Fetal Macrosomia ; Hypertrophy ; Chromosomes ; Hypoglycemia

The pathogenesis and mechanism of obstructive sleep apnea (OSA) has been under investigation for over 25 years, but its etiology and mechanism remains elusive. Skeletal (maxillary and/or mandibular hypoplasia or retrodisplacement, inferior displacement of hyoid) and soft tissue (increased volume of soft tissue, adenotonsillar hypertrophy, macroglossia, thickened lateral pharyngeal walls) factors, pharyngeal compliance (increased), pharyngeal muscle factors (impaired strength and endurance of pharyngeal dilators and fixators), sensory factors (impaired mechanoreceptor sensitivity, impaired pharyngeal dilator reflexes), respiratory control system factors (unstable respiratory control) and so on facilitate collapse upper airway. Therefore, OSA may be a heterogeneous disorder, rather than a single disease entity and various pathogenic factors contribute to the OSA varies person to person. As a result, patients may respond to different therapeutic approaches based on the predominant abnormality leading to the sleep disordered breathing.
Compliance ; Humans ; Hypertrophy ; Macroglossia ; Mechanoreceptors ; Pharyngeal Muscles ; Sleep Apnea Syndromes ; Sleep Apnea, Obstructive*

Airway obstruction in pediatric patients always poses a challenge for anesthesiologists. Beckwith-Wiedemann syndrome causes various abnormalities such as macroglossia and omphalocele. Patients with these abnormalities often need corrective surgeries. Management of difficult airway caused by conditions such as macroglossia in patients with this syndrome could be challenging. We encountered a case of difficult airway in an infant with Beckwith-Wiedemann syndrome. It was predicted that macroglossia might cause difficult ventilation, intubation, and extubation. Preoperative assessment and preparations for difficult airway should be considered.
Airway Management* ; Airway Obstruction ; Anesthesia, General ; Beckwith-Wiedemann Syndrome* ; Hernia, Umbilical ; Humans ; Infant ; Intubation ; Macroglossia ; Ventilation