Inherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent
Abstract
Lipodystrophies comprise a large, heterogeneous group of disorders characterized by generalized or partial fat loss, accompanied by metabolic complications, including insulin resistance, which may or may not be associated with diabetes. Inherited lipodystrophies are a rare subgroup of lipodystrophies characterized by diverse systemic manifestations, posing a diagnostic and therapeutic challenge to clinicians. Here, we report two rare cases of lipodystrophy syndromes: mandibular dysplasia with deafness, progeroid features, and lipodystrophy (MDPL) (Online Mendelian Inheritance in Man (OMIM) #615381) and congenital generalized lipodystrophy type 4 (CGL4) (OMIM #613327). The presenting complaints were delayed puberty and young-onset diabetes in the former case and delayed puberty and achalasia cardia in the latter case. The molecular diagnosis was confirmed by whole-exome sequencing.
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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