Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome.

Haberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, and ectomesodermal dysgenesis. The diagnosis of ECCL is classically made by clinical presentation, imaging, and histopathological findings, but due to the spectrum of clinical presentation and symptom severity, diagnosis is often delayed until adolescence or adulthood. Here we present a newborn male infant, one of the earliest case diagnoses to our knowledge, with a unique constellation of physical exam and neuroimaging findings consistent with this diagnosis. We aim to address important neonatal findings to aid in early detection and diagnosis of this unique disease, which is thought to improve clinical outcomes and patient quality of life.

Prevalence of Metabolic Syndrome in Young Adults With Congenital Heart Disease.

Adults with congenital heart disease (ACHD) are at risk of developing metabolic syndrome (MetS) at a younger age. We sought to obtain the prevalence of MetS in ACHD from a large population-based database in the United States. We conducted a retrospective cohort study of patients with ACHD in Explorys (IBM Inc., Armonk, New York) database from 2008 to 2019. The ACHD cohort included patients aged 20 to 39 years, with moderate and severe congenital heart disease, as defined by ACHD anatomic and physiologic classification. Patients were diagnosed with MetS using the modified International Diabetes Federation's diagnostic criteria. Logistic regression analysis was performed to compare the risk of MetS in the ACHD cohort. MetS was diagnosed in 1,860 of 6,720 patients with ACHD (27.6%). Among 7,359,470 controls, MetS was seen in 742,010 (10.1%). The average age of MetS in ACHD was 31.5 and 32.7 years in controls (p <0.001). The risk of MetS was higher in ACHD versus controls (odds ratio [OR] 2.75 [2.61 to 2.89], p <0.001). The risk of MetS in ACHD was higher in men (OR 3.01 [2.78 to 3.26], p <0.001) and those aged <25 years (men OR 7.57 [6.31 to 9.07], women OR 4.66 [3.85 to 5.63]; p <0.001). The risk of MetS was higher in patients with severe versus moderate ACHD (OR 1.4 [1.56 to 1.74], p <0.001). In conclusion, MetS and its risk factors are more common in young ACHD than in the general population.