Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. It is caused by pathogenic variants in the GPC3 gene on chromosome Xq26.2. Here, we performed a comprehensive literature review and phenotyping of known patients with molecularly confirmed SGBS and reviewed a novel cohort of 22 patients. Using these data, we characterized the tumor risk for Wilms tumor and hepatoblastoma to suggest appropriate screening for this patient population. In addition, we discuss the phenotypic overlap between SGBS and Beckwith-Wiedemann Spectrum.

OBJECTIVE: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase. Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its frequency and functional impact on patients\' daily life.
METHODS: We reviewed 100 adult LOPD patients followed in 17 hospitals in France included in the French national Pompe disease registry. The Swallowing Quality of Life Questionnaire and the Sydney Swallow Questionnaire were completed by patients, and a specialist carried out a medical examination focused on swallowing and assigned a Salassa score to each patient. Respiratory and motor functions were also recorded. Subgroup analysis compared patients with and without swallowing difficulties based on Salassa score.
RESULTS: Thirty-two percent of patients presented with swallowing difficulties, often mild but sometimes severe enough to require percutaneous endoscopic gastrostomy (1%). Daily dysphagia was reported for 20% of our patients and aspirations for 18%; 9.5% were unable to eat away from home. Macroglossia was described in 18% of our patients, and 11% had lingual atrophy. Only 15% of patients presenting with swallowing disorders were followed by a speech therapist. Swallowing difficulties were significantly associated with macroglossia (p = 0.015), longer duration of illness (p = 0.032), and a lower body mass index (p = 0.047).
CONCLUSIONS: Swallowing difficulties in LOPD are common and have significant functional impact. Increased awareness by physicians of these symptoms with systematic examination of the tongue and questions about swallowing can lead to appropriate multidisciplinary care with a speech therapist and dietitian if needed.

UNASSIGNED: A 6-month-old male entire domestic shorthair cat presented for presumptive Toxoplasma myopathy that was non-responsive to antiprotozoal therapy. Clinical features included marked macroglossia, dysphagia, regurgitation, truncal muscle hypertrophy, pelvic limb gait abnormalities and megaoesophagus. Relevant diagnostics included serial creatine kinase activity, cardiac troponin I, fluoroscopic swallow study and routine muscle histopathology. Ultimately, post-mortem histopathology with immunostaining demonstrated markedly decreased or absent staining for the rod and carboxy terminus of dystrophin, confirming a dystrophin-deficient muscular dystrophy (MD). The misdiagnosis of toxoplasmosis was based on an increased IgG titre and muscle histopathology submitted to a local laboratory. Treatment for megaoesophagus included vertical feeding of wet food only, sildenafil and omeprazole. Dysphagia and regurgitation improved moderately. Presumptive hyperaesthesia and muscle pain were managed with anti-inflammatory doses of prednisolone. The patient was ultimately euthanased as a result of progressive MD signs and uraemia at 2 years of age.
UNASSIGNED: This case report highlights the collective clinical features of MD, as they could be considered pathognomonic for this rare condition and must be differentiated from other myopathies via specific immunostaining of muscle biopsies. This is crucial to obtain a correct and early diagnosis, allowing instigation of potentially valuable treatments. Megaoesophagus is an inconsistent feature in feline MD in addition to the more commonly observed oropharyngeal dysphagia. Management with a canned diet, sildenafil, omeprazole and upright feeding was beneficial with moderate improvement in the frequency of regurgitation. Prednisolone was thought to minimise the presumptive myalgia.

The tongue supports the upper dental arch and encourages healthy dental arch development when it rests against the roof of the mouth. On the other hand, over time, malocclusion can result from incorrect tongue position, such as lying low in the mouth or thrusting forward during swallowing or speaking. As a muscular organ, the tongue applies forces to the jaws and teeth that may help with malocclusion or hinder it from aligning properly. The dentition and jaws grow and align according to the way the tongue, teeth, and surrounding structures interact. The tongue\'s morphogenetic function includes forming the arches and having an important impact on the maxillary complex\'s development. The tongue frequently assumes a balancing and compensatory function in subsequent phases, functioning more or less like a natural orthodontic bite. In adults, the tongue is able to compensate for problems like open bites, teeth that are out of alignment, or differences in the occlusal and sagittal planes of the spine. In this context, the tongue\'s ability to sustain occlusion during malocclusion can be considered a compensatory response. This is comparable to how lingual dysfunction may contribute to malocclusion or act as a potential source of recurring orthodontic instability. In order to diagnose and treat orthodontic issues, dental professionals must know the connection between tongue position and dental malocclusion. Malocclusion can be prevented or minimized with early intervention, such as myofunctional therapy to correct tongue position and habits, improving dental health and well-being overall.

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that affects fetal growth in which those afflicted present with features pertaining to that, such as macrosomia, macroglossia, hemihypertrophy, and abdominal wall defects. This case reports the presentation of an infant diagnosed with BWS who was born with an extremely low birth weight of 980 grams, in contrast to the typical presentation of overgrowth and macrosomia. As a result, reaching a diagnosis of BWS was delayed until the patient reached eight months of age, when other clinical features of BWS, such as hemihypertrophy, became apparent on follow-up visits. Although genetic testing can be used to diagnose this condition, a clinical scoring system consisting of a patient\'s clinical features is sufficient, allowing for a timely and precise diagnosis, which is of great significance to allow for early screening and detection of the associated embryonal tumors with such a syndrome.

Macroglossia, an uncommon anatomical anomaly, can manifest as either congenital or acquired. The size of the tongue undergoes variations with age, peaking at 8 years and reaching full maturity at 18 years. Congenital macroglossia stems from diverse conditions, such as muscular hypertrophy, hemangioma, lymphangioma, Down syndrome, and others. Acquired macroglossia can result from malignancies, endocrine and metabolic disorders, chronic infectious diseases, and head and neck infections, among other factors. Additionally, extended-prone surgery can lead to its development. The incidence of macroglossia is likely underreported. This presentation is rare with only six reported cases in the literature.

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We present a 43-year-old patient with a left-sided cerebellopontine angle meningioma with extension to the internal acoustic meatus and jugular foramen. The patient underwent a resection using a retrosigmoid approach, which resulted in near-complete tumor removal. Postoperatively, the patient experienced tongue swelling, swallowing difficulties and right-sided subcutaneous swelling, caused by patient positioning and endotracheal tube placement. Imaging showed phlegmonous infiltration of subcutaneous fat tissue with submandibular gland enlargement. The patient\'s condition gradually improved with conservative management. This case highlights the rare occurrence of combined macroglossia and sialoadenitis after posterior fossa surgery, emphasizing the importance of patient positioning and tube placement.

We are reporting a case of hypothyroidism presenting as fissured tongue, demonstrating significant resolution of fissure tongue upon thyroid hormone replacement therapy.