ABSTRACT
Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346-3325 IU/L) affected all of them (38/38). 39% had scoliosis (10/26) and 57% had atlantoaxial instability (8/14). Cardiac arrhythmias were detected in 57% (20/35) and 46% had ventricular tachycardia (16/35). Congenital pyloric stenosis was diagnosed in 39% (18/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17 years (range: 2 months to 39 years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias.
Subject(s)
Lipodystrophy, Congenital Generalized , RNA-Binding Proteins , Humans , Male , Female , Lipodystrophy, Congenital Generalized/genetics , Lipodystrophy, Congenital Generalized/complications , Lipodystrophy, Congenital Generalized/pathology , Adolescent , Child , Infant , Child, Preschool , Adult , Young Adult , Arrhythmias, Cardiac/genetics , Arrhythmias, Cardiac/pathology , Hypertriglyceridemia/genetics , Hypertriglyceridemia/complications , Hypertriglyceridemia/pathologyABSTRACT
Laundry detergent pods (LDPs) are a new, concentrated form of detergent covered by a membrane of polyvinyl alcohol or other water-soluble material. In contrast to traditional laundry detergents, the spectrum of responses to exposure to LDPs ranges from mild to life-threatening events. This is a case report of a 3-year-old male who ingested part of an LDP, leading to a depressed level of consciousness, upper airway obstruction, and severe respiratory distress. The patient required intubation and mechanical ventilation for 2 days before being discharged. This rare, severe clinical pattern demonstrates the potential toxicity of these laundry detergents. In the literature, few cases that required intubation and ventilation have been reported. To our knowledge, this is also the first case of LDP exposure reported from Turkey.
