Bowel perforation in a pediatric patient with congenital generalized lipodystrophy type 4

Munoz, Amanda; Radulescu, Andrei; Baerg, Joanne; Mendez, Yomara S.; Khan, Faraz A.

doi:10.1016/j.epsc.2019.101257

Cited by 1 publication

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“…A few patients have reportedly died of cardiac disease, mainly due to the development of ventricular arrhythmias but not congestive heart failure (Akinci et al, 2016; Patni et al, 2019; Rajab et al, 2010). While congenital pyloric stenosis requiring early surgery has been reported in some patients, other gastrointestinal complications are not well recognized (Akinci et al, 2016; Gunes et al, 2020; Munoz et al, 2019; Shastry et al, 2010; Sorkina et al, 2020).…”

Section: Introductionmentioning

confidence: 99%

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

Akinci,

Alyaarubi,

Patni

et al. 2024

American J of Med Genetics Pt A

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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.

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