Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy.

Objective: Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a presentation of Prader-Willi syndrome (PWS) and progressive neurologic symptoms was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed. Methods: A combination of clinical, molecular, and imaging data was included in this study. Results: We present the case of a 12-year-old boy with a blended phenotype of PWS and hereditary spastic paraplegia type 11 (HSP-SPG11) caused by maternal uniparental isodisomy of chromosome 15 (UPiD(15)mat) covering a loss-of-function variant in SPG11 (NM_025137.4: c.733_734del; p.Met245ValfsTer2). Although symptoms in early childhood including hypotonia, global developmental delay, hyperphagia, obesity, and seizures were consistent with PWS, additional features of progressive spastic paraparesis, parkinsonism, and cognitive decline in later childhood were atypical. Brain MR imaging showed thinning of the corpus callosum and signal abnormalities of the forceps minor, consistent with a "ears of the lynx" sign. Exome sequencing confirmed a frameshift variant in SPG11 located in the PWS imprinting region on chromosome 15. Discussion: This case highlights that atypical clinical features in patients with well-described imprinting disorders should lead to investigations for recessive conditions caused by variants in genes that localize to the region of homozygosity, including autosomal recessive forms of HSP.

Rhabdomyoma of the Larynx: A Case Report and Literature Review of a Rare Tumor in an Uncommon Location.

OBJECTIVES: Laryngeal rhabdomyomas are extremely rare, benign striated muscle tumors that have been documented only ∼50 times in the literature. They can be subdivided into two types: fetal and adult types, with the adult type being more common. Common presenting symptoms include hoarseness or progressive dysphagia. Diagnosis is made via immunohistochemical and microscopic analysis. Management is typically surgical, most commonly endoscopic, or open resection. METHODS: A comprehensive literature review was conducted with PubMed's MEDLINE index using the following search string: "rhabdomyoma" AND ("larynx" OR "laryngeal" OR "head" OR "neck"). After exclusion criteria were applied, a total of 58 cases were included. The purpose of our literature review was to elucidate information about age/gender, location, size, chief complaint and duration, treatment, and recurrence from each of the 58 cases to identify trends that could guide future diagnosis and management. RESULTS: The average age at diagnosis of laryngeal rhabdomyoma was 52.6 years with a 2.22:1 male predominance. Hoarseness and/or dysphonia was the most common chief complaint (42/58 cases, 72%), followed by dysphagia (12/58 cases, 21%). Common treatment options included endoscopic excision (18/48 cases, 37.5%) or open surgical resection (10/48 cases, 21%). Tumor recurrence was reported in 5/40 cases (14%), most likely due to incomplete removal of the tumor. CONCLUSIONS: Although laryngeal rhabdomyomas are rare, they should be considered in the differential diagnosis for patients with a submucosal laryngeal mass. Curative treatment is surgical via endoscopic resection. It is the preferred technique because of decreased morbidity compared to open resection. However, endoscopic resection was shown to have both higher rates of recurrence and shorter time to recurrence compared to open resection, necessitating frequent postoperative surveillance.

Photographic Confirmation of Biopsy Sites Saves Lives.

Quality photographic documentation of lesions prior to biopsy can decrease the risk of wrong site surgery, improve patient care, and save lives.

Middle ear effusion prevalence at time of tympanostomy before and during COVID-19 pandemic.

BACKGROUND: Management of pediatric otitis media with effusion (OME) and recurrent otitis media typically includes observation up to 3 months. Bilateral myringotomy and tube (BMT) placement is performed due to persistent effusion with associated symptoms such as decreased hearing. With the COVID-19 pandemic and mandatory stay at home orders (MSHO), children were quarantined at home and many remained home after MSHO. We reviewed the prevalence of middle ear effusion (MEE) at the time of BMT during similar time periods in the year before, during and after MSHO in this pandemic year. STUDY DESIGN: Retrospective summary of BMT cases at a single tertiary children's hospital. METHODS: All children <18 years who underwent BMT between March 1, 2020 and July 1, 2020 and between March 1, 2019 and July 1, 2019 were included. Statistical analysis included chi-squared and Mann-Whitney U tests. RESULTS: A total of 778 cases were reviewed; 551 (71%) were performed pre-pandemic and 227 (29%) during onset of pandemic (N = 778). There were no significant differences in gender, age, and BMI between groups, but significantly fewer Caucasians (58% vs. 45%, p < 0.05) and more Hispanics (20% vs. 33%, p < 0.05) during-COVID. The prevalence of intraoperative effusion during-COVID was significantly lower compared to pre-COVID (65% vs. 83%, p < 0.001). CONCLUSION: Pandemic and COVID-19 MSHO were associated with significantly lower intraoperative OME prevalence. Further research may elucidate the impact of face covering, social distancing, and virtual schooling on the incidence of pediatric ROM, OME, and ENT symptoms.