Berardinelli-Seip syndrome in a 6-year-old boy

Area of Science:

• Endocrinology
• Genetics
• Dermatology

Background:

• Berardinelli-Seip syndrome is a rare autosomal recessive disorder characterized by generalized lipodystrophy, insulin resistance, and hyperandrogenism.
• It is caused by mutations in genes involved in adipocyte differentiation and function.
• Early diagnosis and management are crucial for improving patient outcomes.

Observation:

• A 6-year-old boy presented with abnormal habitus, delayed language, frequent falls, and recent fever.
• Clinical examination revealed hyperandrogenic features, generalized fat paucity, muscular overdevelopment, and acanthosis nigricans.
• Skin biopsy showed features of acanthosis nigricans and absence of subcutaneous fat.

Findings:

• The patient was diagnosed with Berardinelli-Seip syndrome.
• He also presented with bilateral pneumonia and generalized tonic-clonic seizures.
• Histopathological findings confirmed the absence of subcutaneous tissue.

Implications:

• This case underscores the diverse clinical manifestations of Berardinelli-Seip syndrome.
• It emphasizes the importance of a multidisciplinary approach for diagnosis and management.
• Understanding the histopathology aids in differentiating it from other conditions with similar features.