Sturge-Weber syndrome with massive macroglossia and anterior neck space infection- a case report and review of literature.

Sturge- Weber syndrome (SWS), is a rare neuro-cutaneous angiomatosis which affects male and females alike. The clinical manifestations include angiomas, haemangiomas of the lips, tongue and palatine region. The oral manifestations are usually unilateral and are susceptible to bleed. Patients can also present with macroglossia and maxillary bone hypertrophy which can lead to malocclusion of the oral cavity. Food accumulation due to occlusion can cause growth of bacteria which can intensify infections and can cause gingival hyperplasia. A case of a middle-aged 39 year old female was reported in the Ziauddin Hospital, Karachi on 2nd of February,2022 with the presenting complaints of intermittent fever and drowsiness for 10 days. On examination she had massive tongue enlargement, drooling, malocclusion, difficulty in eating and breathing. She was a known case of Sturgeweber syndrome. Based on the clinical and radiological findings, she was managed along the lines of prelaryngeal soft tissue and submandibular infection.

Management of MACROGLOSSIA: Case Series and Suggested Algorithm.

PURPOSE: Idiopathic macroglossia is a rare entity of true tongue enlargement without an underlying etiology. There are only a few case reports on the diagnosis and management of idiopathic macroglossia. This study's purpose was to present a series of patients with idiopathic macroglossia and suggest a treatment algorithm. METHODS: This was a retrospective case series of a cohort of patients with macroglossia who were treated by the Oral and Maxillofacial Surgery service at the University of Texas Health Science Center at Houston (UTHealth)and Emory University. The patient's medical comorbidities, history of present illness, clinical presentation, radiographic findings, and disease management were studied. The outcome variables include normalization of the tongue size, dependence on parenteral nutrition, and tolerating tracheostomy decannulation. RESULTS: Five patients with a mean age of 45 years were included in the study. All of the patients (n = 5, 100%) in our cohort developed macroglossia following prolonged oral intubation, with 3.5 weeks being the average length of intubation. All patients presented with difficulty feeding orally and breathing. The average tongue dimension was 12.20 x 6.25 cm. All tongue enlargements were located in the anterior 2/3 of the tongue, and all patients had displaced anterior dentition. In addition, 60% of the patients (n = 3) experienced altered tongue sensation (pain and/or decreased taste). These patients were surgically managed with tracheostomy and percutaneous endoscopic gastrostomy (PEG) tube placement followed by partial glossectomy (n = 5, 100%). We defined successful outcomes as 1) modifying the tongue to a functional, nonprotruding form, 2) tracheostomy decannulation and 3) PEG tube removal. Tracheostomy decannulation and PEG tube removal were achieved in 80% of the patients (n = 4). CONCLUSIONS: In this patient cohort, we were unable to identify the cause of the pathology based on existing clinical data. When the etiology is unclear or irreversible, management should involve tracheostomy and surgical feeding access for the initial stabilization, followed by modified glossectomy to improve form, function, and cosmesis thereby improving the overall quality of life.

Taming the Tongue: The Surgical Approach to Macroglossia.

While traditionally in the realm of otorhinolaryngology or oral maxillofacial surgery, conditions involving the tongue may also be managed by plastic surgeons. The authors present an unusual case of acquired macroglossia resulting from angiotensin-converting enzyme inhibitor-induced angioedema and review the literature to discuss its surgical management from a plastic surgery perspective. A 62-year-old female suffered severe airway obstruction, respiratory arrest, and anoxic brain injury from angioedema-associated macroglossia. After tracheostomy, the patient was managed nonsurgically, with bite wound care and medications to minimize angioedema to marginal effect. Ultimately, a partial glossectomy was planned. The edematous distal tongue was amputated and closed primarily. On postoperative day 2, she was successfully weaned off mechanical ventilation and no longer suffers trauma from tongue biting. The simple anterior tongue resection described in this paper was an appropriate approach for our patient. More research is needed to guide plastic surgeons in an optimal approach for clinical scenarios.

CT volumetric analysis permits comparison of tongue size and tongue fat in different canine brachycephalic and mesaticephalic breeds.

While macroglossia is a newly accepted component of brachycephalic obstructive airway syndrome (BOAS) in dogs, macroglossia with increased tongue fat is a well-known cause for obstructive sleep apnea (OSA) in people, and targeted reduction procedures such as midline glossectomy are used to treat people with OSA. While midline glossectomy has been described in dogs, tissue contributions to macroglossia have not been characterized. The purpose of this retrospective, descriptive, case-control study was to describe and compare volumetric dimensions of the tongue and tongue fat in brachycephalic (BC) and mesaticephalic (MC) dogs using CT images. Data collected included head and neck CT images from 17 BC and 18 control MC dogs. Multiplanar reformatted and 3D reconstructed images were created using image segmentation and specialized visualization software to calculate volumetric dimensions of the total tongue, tongue fat, and tongue muscle. Rostral and caudal topographical distributions of fat were compared. Total tongue and tongue muscle volume (P < 0.0001) and tongue fat volume (P = 0.01) normalized to body weight (BW) were greater in BC dogs. More fat was localized in the caudal tongue in both groups (P < 0.04). In regression analysis, BC conformation and increased weight were significant predictors of increased tongue fat volume. As in people, increased tongue fat may contribute to macroglossia and sleep-disordered breathing in BC dogs. Use of CT volumetry to identify tongue fat deposits may permit targeted surgical reduction of tongue volume in BC dogs and contribute substantially to treatment of BOAS.

[Preterm with Macroglossia and Persistent Hypoglycemia - Beckwith-Wiedemann Syndrome]. / Frühgeborenes mit Makroglossie und persistierender Hypoglykämie ­ Beckwith-Wiedemann-Syndrom.

Beckwith-Wiedemann syndrome (BWS) is a genetic disease with phenotypic variability and the following signs: macroglossia, asymmetry, lateralised overgrowth, overgrowth of the internal organs, abdominal wall defects, neonatal hypoglycemia and increased risk of embryonic tumours. The prevalence is reported as being between 1 in 10,000 and 1 in 21,000 live births. The disease is caused by molecular changes in gene clusters on the short arm of chromosome 11 region P15.5. We present the case of a female, born preterm at 32 0/7 weeks. A UPD(11)pat-mutation was diagnosed postnatally. The particular feature of her case was an early tongue reduction surgery which was necessary because of drinking and breathing difficulties. Long-lasting hypoglycemia was difficult to treat.

Tongue Reduction for Macroglossia.

INTRODUCTION: Macroglossia is a term used to describe a large tongue which protrudes outside of the mouth while in a resting position (Balaji, 2013). It is a cardinal sign in children with Beckwith-Wiedemann syndrome and can also be found in children with Down syndrome and Klippel-Trenaunay-Weber syndrome. Macroglossia can lead to airway and feeding difficulties, as well as problems with speech, drooling, and cosmesis. We present a review of tongue reduction operations performed for macroglossia over a 10-year period in Northern Ireland. METHODS: We performed a retrospective review of the medical notes of those children identified to have undergone a tongue reduction procedure in the regional pediatric hospital. We reviewed the presenting symptoms and concerns, the operative technique used, postoperative outcomes, and follow up. Outcomes data included improvements in symptoms, complications, and the need for revision procedures. RESULTS: Six children underwent tongue reduction procedures over a 10-year period. Age range at time of surgery was between 4 months to 10 years 3 months. Five children had an underlying diagnosis of Beckwith-Wiedemann syndrome and 1 child had Down syndrome. One child underwent a second tongue reduction for mild tongue protrusion at the 5-year follow up. There were no complications in relation to tongue reduction surgery for any of the children and importantly, there were no airway complications in our series. All patients were found to have improved feeding, better tongue position in the oral cavity, reduced drooling, and better speech development following surgery. CONCLUSION: Symptomatic macroglossia requiring a tongue reduction procedure is relatively rare and these procedures are, therefore, uncommonly performed. Despite the rarity of this procedure, when it is required, it can be life saving for some infants and children, and life altering for the remainder. Improvements in airway, feeding, speech, and psychosocial wellbeing are the desired outcomes with this procedure. Throughout our 10-year series we have found it to be a relatively safe procedure but potentially anesthetically challenging. We have demonstrated both good short and long-term outcomes for these children.

Giant Tongue in a Patient With Chiari Malformation and Neuroleptic-Induced Tardive Dyskinesia.

A 68-year-old woman, presented with a squamous cell carcinoma of the malar region, and underwent wide local excision. During her clinical examination, repetitive protrusion and intrusion of the tongue as well as stereotypic, abnormal movements of the mouth and lips were observed, in a pattern that resembled chewing, sucking or lip pursing; dyskinesias ceased when she was speaking or bringing food to the mouth. She was unaware of the movements and the tongue was observed to move similar to choreiform movements, while revealing a giant "snake-like" macroglossia. She had history of mental retardation and alcohol abuse, and was under classic antipsychotic medications for several years. During a previous neurological investigation, type I Chiari malformation was diagnosed. In this case, concomitant Chiari malformation and neuroleptic-induced tardive dyskinesia, may together have been responsible for giant macroglossia, and to our best knowledege no similar observation has been reported in the literature.

Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

The authors of the recently published, "Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases", provide an important review of the various mechanisms of lysosomal storage diseases (LSD) and how they culminate in similar clinical pathologies [...].

Non-motor manifestations in ALS patients with tracheostomy and invasive ventilation.

INTRODUCTION: This study aimed to investigate non-motor manifestations in amyotrophic lateral sclerosis (ALS) patients with tracheostomy and invasive ventilation (TIV) and their relevance to disease progression. METHODS: Sixty-seven ALS patients with TIV were enrolled, and followed-up prospectively. The patients were classified at the final evaluation into two subgroups according to the duration of TIV use or disease stage measured by communication impairment. We identified non-motor manifestations and investigated their frequencies and differences across the stages. RESULTS: The non-motor manifestations were macroglossia (22.4%), unstable blood pressure (38.8%), hypothermia (26.9%), dysuria (50.7%), and hyperglycemia (12.1%). These manifestations occurred significantly more frequently in patients with TIV ≥5 years than in patients with TIV <5 years, and more in patients with severe communication impairment than in those with preserved communication ability. DISCUSSION: Non-motor manifestations are observed at a high rate in ALS patients with TIV, and are possibly related to disease progression. Muscle Nerve 57: 735-741, 2018.

Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is a rare paediatric overgrowth disorder. Associated macroglossia is a feature of many children with BWS and is felt to be a risk factor for obstructive sleep apnoea (OSA). Sleep-disordered breathing is highly variable in this population. The relationship between degree of macroglossia or other genotypic or phenotypic factors and OSA severity has not been established. The natural history of OSA in this population is unknown; a variety of conservative and surgical therapies have been used to treat OSA in children with BWS but none have been studied systematically. Tongue reduction is the mainstay of surgical therapy for macroglossia associated with BWS, but limited data are available regarding its efficacy in treating OSA or its effect on speech and swallowing. More research is needed to better identify which children with BWS are at risk for OSA and the most effective treatment for these patients.

Unusual Case of a Massive Macroglossia Secondary to Myxedema: A Case Report and Literature Review.

Macroglossia is classified as true macroglossia, which exhibits abnormal histology with clinical findings, and relative macroglossia, in which normal histology does not correlate with pathologic enlargement. This report describes an atypical case of morbidity with massive macroglossia secondary to myxedema; the macroglossia enlarged over a 3-month period before being presented to the Department of Oral and Maxillofacial Surgery, University of Texas Health Science Center at Houston (Houston, TX). Substantial enlargement of the tongue (16 cm long × 10 cm wide) was first attributed to angioedema, which was refractory to the discontinuation of lisinopril and a C1 esterase inhibitor. A core tongue biopsy examination was performed to rule out angioedema, amyloidosis, myxedema, and idiopathic muscular hypertrophy. Interstitial tissue was positive for Alcian blue and weakly positive for colloidal iron, which are correlated with hypothyroidism and a diagnosis of myxedema. However, the macroglossia did not resolve after correcting for hypothyroidism. The patient required a wedge glossectomy for definitive treatment. She recovered unremarkably, with excellent cosmesis and preservation of lingual and hypoglossal function. There are some case reports of massive macroglossia but none with myxedema as the primary etiology.

Intermittent hypoxia causes mandibular growth retardation and macroglossia in growing rats.

INTRODUCTION: In this study, we aimed to examine the role of intermittent hypoxia (IH) in dentofacial morphologic changes in growing rats. METHODS: Seven-week-old male rats were exposed to IH at 20 cycles per hour (nadir of 4% oxygen to peak of 21% oxygen) for 8 hours per day for 6 weeks. Control rats were exposed to normoxia (N). Maxillofacial growth was compared between the 2 groups by linear measurements on cephalometric radiographs. To examine the dental arch morphology, study models and microcomputed tomography images of the jaws were taken. Additionally, tongue size was measured. RESULTS: The gonial angle and the ramus of the mandible were smaller in the IH group than in the N group, whereas the body weights were not different between the 2 groups. Morphometric analysis of the dentition showed a significantly wider mandibular dentition and narrower maxillary dentition in the IH than in the N group. The relative width (+4.2 %) and length (tongue apex to vallate papillae, +3.5 %) of the tongue to the mandible were significantly greater in the IH group than in the N group. CONCLUSIONS: IH induced dentofacial morphologic discrepancies in growing rats.

Macroglossia in advanced amyotrophic lateral sclerosis.

INTRODUCTION: An enlarged tongue (macroglossia) has been reported in advanced-stage patients with amyotrophic lateral sclerosis (ALS). METHODS: In this study we examined the prevalence of macroglossia and analyzed clinical correlations in 65 ALS patients on tracheostomy-invasive ventilation (TIV). RESULTS: Macroglossia was found in 22 patients (33.8%). Compared with those without macroglossia, patients with macroglossia had a younger age of onset, longer duration of disease and TIV use, lower ALS Functional Rating Scale score, higher body mass index, lower energy intake, more severe communication impairment, and lower oral function. Logistic multivariate analysis showed that body mass index (BMI; P = 0.007) and communication impairment (P = 0.029) were significantly correlated with macroglossia. The duration of TIV use was at the cut-off level of significance (P = 0.05). CONCLUSIONS: Macroglossia may be the result of overfeeding and replacement by fat during long-term TIV use in patients with advanced ALS. Muscle Nerve, 2016 Muscle Nerve 54: 386-390, 2016.

A 47-year-old man with tongue swelling.

Intermittent tongue angioedema can be the initial presentation of several disorders including angiotensin-converting-enzyme inhibitor induced angioedema and hereditary angioedema. Persistent angioedema on the other hand, can be associated with amyloidosis, tumors, thyroid disorders and acromegaly. We present a case of intermittent episodes of tongue swelling progressing to macroglossia.