Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review.

PURPOSE: PTEN hamartoma tumor syndrome (PHTS) comprises a group of rare genetic conditions caused by germline mutations in PTEN gene and characterized by development of both benign and malignant lesions in many body tissues. In this study, we aimed to evaluate the incidence of thyroid findings in both adult and pediatric PHTS patients. METHODS: A retrospectively analysis conducted in 19 (13 adult and 6 pediatric) patients with PHTS, all confirmed with genetic testing, observed from 2015 to 2021 at the Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. RESULTS: We found a thyroid involvement in 12 adult patients (92%): 11 patients had benign lesions (85%) and the remaining developed a follicular thyroid carcinoma (8.3%). The median age at time of the first available record was 30 years. Among benign lesions, multinodular goiter was the most observed finding (10/11, 91%). Only 1 out of 6 (16%) pediatric patients was diagnosed with a thyroid lesion (unifocal lesion in mild lymphocytic thyroiditis) at the age of 8 years. CONCLUSIONS: Thyroid disorders affected nearly all adult PHTS patients, but a much lower proportion of pediatric patients. We discuss about the natural history of thyroid involvement, age of PHTS clinical onset, and optimized surveillance.

Oral viscous budesonide as a first-line approach to esophageal stenosis in epidermolysis bullosa: an open-label trial in six children.

BACKGROUND: Esophageal and pharyngeal problems are common in the majority of patients with epidermolysis bullosa (EB). Repeated blister formation and ulceration, coupled with chronic inflammation, result in scarring and development of esophageal strictures. OBJECTIVE: This study aimed to evaluate whether oral viscous budesonide (OVB) was useful for treating esophageal structures in six pediatric patients (aged 8-17 years) with EB who were affected by dysphagia and esophageal strictures. METHODS: Patients were treated for 4 months with twice-daily oral budesonide nebulizer solution 0.5 mg/2 mL mixed with maltodextrin 5 g and artificial sweeteners. RESULTS: One patient developed a severe oral mycotic infection and discontinued treatment. The other five patients completed the treatment regimen and displayed significantly lower stricture indices (SIs) post-treatment (mean SI ± standard deviation 0.736 ± 0.101 pre-treatment versus 0.558 ± 0.162 post-treatment; p = 0.008). Patients experienced a mean SI decrease of 0.178 (range 0.026-0.296), as well as improved dietary habits in the absence of side effects. CONCLUSION: These findings indicated that topical corticosteroids may significantly alleviate strictures in pediatric patients with EB, thereby limiting the need for endoscopic dilation and considerably improving patients' quality of life.

Association between radiological findings and severity of community-acquired pneumonia in children.

BACKGROUND: There are few published data concerning radiological findings and their relationship with community-acquired pneumonia (CAP) severity. The aim if this study was to assess radiographic findings in children with CAP of different severity in order to evaluate whether some parameters are associated with severe CAP. METHODS: We analysed the characteristics of parenchymal densities in 335 chest radiographs of otherwise healthy children (173 males; mean age ± standard deviation, 7.5 ± 4.5 years) admitted to our Emergency Room for CAP. Upon admission, chest radiographs were obtained in the two standard projections, and the children with severe or mild/moderate CAP were compared in order to identify any correlations between CAP severity and the radiological findings. RESULTS: Seventy-six of the 335 enrolled children (22.7%) fulfilled the criteria for severe CAP. In comparison with the children with mild/moderate CAP, in severe CAP there was a significantly greater frequency of a bilateral multifocal distribution (p = 0.01), the simultaneous involvement of ≥ 3 sites (p = 0.007), and the involvement of the right hilum (p = 0.02). The same results were confirmed in the multiple logistic regression model. CONCLUSIONS: This study shows that radiological findings such as a multifocal bilateral distribution, the simultaneous involvement of at least three sites, and right hilar consolidation are associated with severe CAP in otherwise healthy children, and could be considered markers of disease severity in children with CAP.

Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.

We describe an infant affected by adenine phosphoribosyltransferase (APRT) deficiency diagnosed at 18 months of age with a de novo mutation that has not been previously reported. APRT deficiency is a rare defect of uric acid catabolism that leads to the accumulation of 2,8 dihydroxyadenine (2,8-DHA), a highly insoluble substance excreted by the kidneys that may precipitate in urine and form stones. The child suffered from renal colic due to a stone found in the peno-scrotal junction of the bulbar urethra. Stone spectrophotometric analysis allowed us to diagnose the disease and start kidney-saving therapy in order to avoid irreversible chronic kidney damage. APRT deficiency should always be considered in the differential diagnosis of pediatric urolithiasis.