Niemann-Pick disease type C, severe perinatal form is a rare, inherited metabolic disorder that affects the body's ability to metabolize cholesterol and other lipids (fats). It is characterized by an accumulation of cholesterol and other lipids in the liver, spleen, and other organs. Symptoms can include enlarged liver and spleen, jaundice, poor feeding, vomiting, seizures, and developmental delays. In severe cases, the disease can be fatal in infancy.

The symptoms of Niemann-Pick disease type C, severe perinatal form, can vary greatly from person to person, but may include:

- Poor feeding
- Seizures
- Developmental delays
- Abnormal eye movements
- Difficulty swallowing
- Abnormal muscle tone
- Abnormal breathing patterns
- Liver and spleen enlargement
- Jaundice
- Abnormal facial features
- Abnormal bone growth
- Abnormal accumulation of fat in the liver and spleen
- Abnormal accumulation of cholesterol in the brain
- Abnormal accumulation of lipids in the brain
- Abnormal accumulation of iron in the brain
- Abnormal accumulation of copper in the brain
- Abnormal accumulation of calcium in the brain
- Abnormal accumulation of magnesium in the brain
- Abnormal accumulation of zinc in

Niemann-Pick disease type C, severe perinatal form is caused by mutations in the NPC1 or NPC2 genes. These genes provide instructions for making proteins that are involved in the transport of cholesterol and other lipids (fats) within cells. Mutations in either of these genes lead to an accumulation of lipids in certain cells, particularly in the brain, liver, and spleen. This accumulation of lipids causes the signs and symptoms of Niemann-Pick disease type C.

The treatments for Niemann-Pick disease type C, severe perinatal form, include:

1. Dietary management: A low-cholesterol, low-saturated fat diet is recommended to reduce the amount of cholesterol and other lipids in the body.

2. Enzyme replacement therapy: This involves the administration of an enzyme called acid sphingomyelinase (ASM) to help break down the lipids that accumulate in the body.

3. Bone marrow transplantation: This is a procedure in which healthy bone marrow cells are transplanted into the patient to replace the defective cells.

4. Gene therapy: This involves the introduction of a healthy gene into the patient’s cells to replace the defective gene.

5. Cholesterol-lowering medications: These medications can help reduce the amount of cholesterol

1. Family history of Niemann-Pick disease type C
2. Maternal age over 35
3. Maternal consanguinity
4. Maternal history of a previous child with Niemann-Pick disease type C
5. Maternal history of a previous pregnancy affected by Niemann-Pick disease type C
6. Maternal history of a previous pregnancy affected by a lysosomal storage disorder
7. Maternal history of a previous pregnancy affected by a metabolic disorder
8. Maternal history of a previous pregnancy affected by a neurological disorder
9. Maternal history of a previous pregnancy affected by a genetic disorder
10. Maternal history of a previous pregnancy affected by a chromosomal abnormality

Unfortunately, there is no cure for Niemann-Pick disease type C, severe perinatal form. However, there are medications that can help manage the symptoms and slow the progression of the disease. These medications include enzyme replacement therapy, cholesterol-lowering medications, and medications to help manage seizures. Additionally, physical, occupational, and speech therapy can help improve quality of life.