Berardinelli Seip Syndrome: A rare case report

Samreen Ashraf, Shadab Masood, Farrah Naz, Junaid Rashid

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1 Citation (Scopus)


Berardinelli Seip Congenital Lipodystrophy (BSCL) or Congenital Generalized Lipodystrophy (CGL) is one of the four subgroups of lipodystrophy syndrome which is characterized by varying degrees of loss of adipose mass in the body. It is an extremely rare autosomal recessive disorder and commonly reported clinical presentations include muscular hypertrophy, gigantism, hepatomegaly, impaired glucose tolerance, acanthosis nigricans, hypertriglyceridaemia, cardiomyopathy, intellectual impairment, bone cysts and phlebomegaly. We present a case of a 4.5 years old male child born to consanguineous parents, presented with pneumonia. There was history of recurrent diarrhea and chest infection in the past. He had acromegaly like features, hirsutism, firm hepatomegaly, a well defined bone cyst in proximal right femur, pancytopenias with normal bone marrow biopsy report, hypertriglyceridemia and selective IgA deficiency. This is the first case of BSCL, reported in Pakistan with a bone cyst and IgA deficiency. Such patients need to be identified and monitored for complications like diabetes mellitus and hypertrophic cardiomyopathy.

Original languageEnglish
Pages (from-to)969-971
Number of pages3
JournalJournal of the Pakistan Medical Association
Issue number5
Publication statusPublished - May 2022
Externally publishedYes


  • Berardinelli Seip Syndrome
  • Bone cyst
  • Lipodystrophy


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