Neutral lipid storage disease

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(Redirected from Chanarin-Dorfman syndrome)

Chanarin-Dorfman Syndrome smear 2009-11-13

Genetic disorder characterized by the accumulation of neutral lipids in various tissues

Neutral lipid storage disease






Symptoms Muscle weakness, hepatomegaly, cardiomyopathy


Usual onset Childhood or adulthood
Duration Lifelong


Causes Genetic mutations
Risk factors Family history
Diagnosis Genetic testing, Biopsy



Treatment Symptomatic management


Prognosis Variable
Frequency Rare



Neutral lipid storage disease (NLSD) is a rare genetic disorder characterized by the accumulation of neutral lipids in various tissues of the body. This condition can affect multiple organs, including the muscle, liver, and heart.

Classification[edit]

NLSD is classified into two main types:

  • Neutral lipid storage disease with myopathy (NLSDM), also known as Chanarin-Dorfman syndrome.
  • Neutral lipid storage disease with ichthyosis (NLSDI).

Signs and Symptoms[edit]

The symptoms of NLSD can vary widely depending on the type and severity of the disease. Common symptoms include:

Genetics[edit]

NLSD is caused by mutations in specific genes responsible for lipid metabolism. The most commonly affected genes are:

  • ABHD5 (also known as CGI-58) in NLSDI
  • PNPLA2 (also known as ATGL) in NLSDM

These mutations lead to the improper breakdown and storage of neutral lipids within cells.

Diagnosis[edit]

Diagnosis of NLSD typically involves:

  • Genetic testing to identify mutations in the ABHD5 or PNPLA2 genes.
  • Biopsy of affected tissues to observe lipid accumulation.

Treatment[edit]

There is currently no cure for NLSD. Treatment focuses on managing symptoms and may include:

  • Physical therapy for muscle weakness
  • Medications for heart and liver complications
  • Skin care for ichthyosis

Prognosis[edit]

The prognosis for individuals with NLSD varies. Some may experience mild symptoms, while others may have severe complications affecting their quality of life.

Related Pages[edit]

Categories[edit]

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