Neutral lipid storage disease

Chanarin-Dorfman Syndrome smear 2009-11-13

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

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

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

• Muscle weakness
• Hepatomegaly (enlarged liver)
• Cardiomyopathy (heart muscle disease)
• Ichthyosis (dry, scaly skin) in NLSDI

Genetics

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

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

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

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

• Genetic disorder
• Lipid metabolism
• Muscle disease
• Liver disease
• Heart disease