Post Mortem Findings in a Young Male with Congenital Generalized Lipodystrophy, Type 4 due to CAVIN1 mutations.

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Post Mortem Findings in a Young Male with Congenital Generalized Lipodystrophy, Type 4 due to CAVIN1 mutations.

J Clin Endocrinol Metab. 2018 Nov 21;:

Authors: Patni N, Vuitch F, Garg A

Abstract
Context: Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by CAVIN1 mutations. Patients with CGL4 also have myopathy and cardiomyopathy with a predisposition for sudden death due to ventricular arrhythmias. However, underlying pathology for these morbidities remains unknown. Therefore, we report the first autopsy of a Hispanic boy with CGL4.
Case description: Our patient had early onset generalized lipodystrophy, feeding difficulties, myopathy, atlanto-axial dislocation and learning disabilities. He was diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) at age 8, had poor compliance with medications, and died suddenly at age 15.3 years. Autopsy showed marked loss of subcutaneous and omental fat with no inflammatory cells in adipose tissue and normal adipocytes in the parathyroid glands. There were adipocytes inter-digitating cardiac muscle fibers, with fibro-fatty infiltration in the right ventricle, near coronary sinus and atrioventricular node. There was no evidence of coronary heart disease. Quadriceps femoris muscle did not show any adipocyte infiltration, inflammation or fibrosis. Muscularis mucosa layer was thickened in esophagus and gastro-duodenal junction, and esophagus had prominent, large nerves in the subserosa. The liver was 3,000 g with minimal chronic inflammation and steatosis in 40% of parenchyma, primarily in zones 2 and 3. Interestingly, there was no spermatogenesis in the spermatic tubules.
Conclusions: Our data suggest that fibro-fatty infiltration of right ventricle may contribute to CPVT in CGL4 patients. Thick muscularis mucosa and large nerves in esophagus likely contributed to dysphagia and dysmotility. Lack of spermatids suggests infertility in the affected males.

PMID: 30476128 [PubMed - as supplied by publisher]

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