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[edit | edit source]

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 | edit source]

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[edit | edit source]

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 | edit source]

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 | edit source]

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 | edit source]

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