Abstract

Berardinelli-Seip Congenital lipodystrophy is a rare autosomal recessive disorder characterized by acanthosis nigricans, loss of subcutaneous fat, hepatosplenomegaly, mental retardation, hypertriglyceridemia, insulin resistance. An inability to store energy in adipose tissue is one of the important pathogenetic mechanisms. In congenital lipodystrophy, insulin resistance is present from birth, resulting in hyperlipidaemia, hyperinsulinaemia, insulin resistance diabetes and acanthosis nigricans. We report here a case of congenital lipodystrophy presenting with seizure and acanthosis nigricans in absence of insulin resistance.

Highlights

  • Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disorder characterized by generalized loss of fat involving face, trunk and limbs

  • We report here a case of BSCL because of its rarity and unusual features

  • BSCL families are classified into BSCL1, BSCL 2 and BSCL X [2]

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Summary

Introduction

Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disorder characterized by generalized loss of fat involving face, trunk and limbs. There was no history of jaundice, swelling of the body or any breathlessness. Her bodyweight was 15 kg and the height was 119 cm. Five days prior to hospitalization the girl had an attack of generalized seizure associated with loss of consciousness lasting for about ten minutes. On examination the girl had generalized loss of subcutaneous fat including cheeks, generalized pigmentation over skin, which was more prominent over axilla and neck. Abdominal examination revealed the liver, which were firm, nontender and 6 cm palpable below the right costal arch. The spleen was firm, 3 cm palpable below the left costal arch (Table 1). Rest of the systemic examination did not reveal any abnormality

Height Seizure Loss of consciousness Skin Scalp hairs Abdomen
Serum cholesterol
Discussion

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