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Congenital Generalized
Lipodystrophy synonym
Berardinelli-Seip Syndrome Congenital
Generalized Lipodystrophy is a rare genetic disease. It is characterized
by near complete absence of body fat. It is inherited as a autosomal
recessive
disorder. It is a disease involving the adipose tissue (fat tissue) of
the body. Parents are carriers of the genes but
are not affected. There is a 25% chance of transmission of both
defective genes to the affected children. The ratio of affected to
unaffected children is 1:4. Clinical features:
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The diagnosis is evident at birth or immediately
afterwards. These infants look very muscular due to the absence of
fat. Nearly the entire body is affected, only
the palms, soles and scalp are spared. |
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These patients also have accelerated growth during
their childhood and have a voracious appetite. |
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The onset of diabetes is usually during the
pubertal years and requires high dose of insulin to control the
blood glucose levels. |
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Severe insulin resistance; high serum insulin and
triglyceride levels and low levels of high-density lipoprotein (HDL)
cholesterol. |
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Patients also present
with acanthosis nigricans (dark velvety pigmentation of the skin)
in the axilla, neck or groin. |
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Enlarged hands, feet
and prominent mandible (acromegaloid features), umbilical hernia
and lytic lesions (look like bone is eaten-up on X-rays) in the
long bones of the body such as the humerus, femur, etc. after
puberty. |
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Females present with
enlarged clitoris, increased body hair, absence of or irregular
menstrual cycles and polycystic ovaries |
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Recently, a gene for
CGL has been localized on the long arm of chromosome 9 (9q34). |
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