Oil Red-O Positive lipid blobs on peripheral blood film examination in a muscular infant with the diagnosis of Berardinelli-Seip syndrome.

Abstract

Lipodystrophy syndromes can be acquired or hereditary in nature and are characterized by abnormal fat distribution including the inability of the body to develop and sustain healthy adipose tissue. They may be generalized or partial in nature. The congenital generalized form is termed as Berardinelli–Seip syndrome and may occur due to mutations in the AGPAT2 or BSCL2 genes. In this case report, we present an infant diagnosed with type-1 Berardinelli–Seip syndrome due to pathogenic variation in the AGPAT2 gene. Though this type of lipodystrophy is less severe than the type-2 form, the case highlights the early presentation of the condition in infancy with increased frequency of stools and hypertriglyceridemia. In addition, we want to highlight that identification of characteristic physical appearances and recognition of abnormal findings during basic investigations is important, which can guide a clinician in making a correct diagnosis.