# A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing

## TL;DR

A rare genetic disorder was misdiagnosed as Cushing syndrome but was identified through whole-exome sequencing.

## Contribution

The study highlights the importance of genetic testing in atypical cases of lipodystrophy.

## Key findings

- A missense variant in the Laminin A gene (R582H) was identified through whole-exome sequencing.
- The patient's symptoms did not match classical presentations of the gene variant.
- The case emphasizes the need for a high suspicion of lipodystrophy in atypical presentations.

## Abstract

Familial partial lipodystrophy type 2 is a rare disease, particularly when it is
caused by nonclassical gene variants. A high index of suspicion is essential for
a timely diagnosis. We present the case of a 32-year-old woman, referred to
evaluation of a possible Cushing syndrome, which was clinically and
biochemically ruled out. Yet, due to the finding of a rather abnormal fat
distribution during physical examination, the diagnosis of lipodystrophy was
cogitated. Whole-exome sequencing revealed a missense variant of exon 11 R582H
of the gene encoding Laminin A (rs57830985,c.1745G>A, p.Arg582His). The
patient presented some clinical and biochemical characteristics discordant with
those previously reported in patients harboring other classical variants of this
gene.