Santavuori disease



What is Santavuori disease?

Santavuori disease is an extremely rare pathological condition which belongs to a group of disorders called Neuronal ceroid lipofuscinoses. Santavuori disease is the infantile form of the disorders.

Santavuori disease is a condition in which fatty deposits and carbohydrates accumulate in the brain cells, spinal cord, and other vital organs of the body.  This accumulation of fatty deposits results in gradual deterioration of brain function along with neurological impairment and other signs and symptoms.

How common is Santavuori disease?

Santavuori disease affects males and females in equal numbers. In the United States, Santavuori disease along with other forms of Neuronal ceroid lipofuscinosis occurs in approximately three in 100,000 live births. Santavuori disease occurs with greater frequency in Finland where its prevalence is estimated to be 1 in 190,000. Please discuss with your doctor for further information.


What are the symptoms of Santavuori disease?

In majority of the cases, the first symptoms of Santavuori disease start to appear when the child is about 2 years of age.

In the first phase, the child may exhibit some psychomotor retardation in which there will be a delay in mental coordination.

Additionally, the child may also lose whatever mental and physical abilities he or she might have developed before (developmental regression.)

After this, the disease starts to progress rapidly as the fats and carbohydrates start to accumulate in the brain and spinal cord leading to seizures, loss of ability to voluntarily move muscles, hypotonia.

The child may also develop ocular abnormalities. As the condition progresses there will be increased neurological impairments making the child lose his or her ability to respond to stimuli, suffer from frequent bouts of seizures, and virtually become immobile.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Santavuori disease?

The root cause of Santavuori disease is mutation of the PPT1 gene. The PPT1 gene is responsible for producing enzyme palmitoyl-protein thioesterase 1 which is extremely important for functioning of lysosomes. Lysosomes are present in cells and assist in breakdown of fatty substances, sugars, and carbohydrates. As a result of the faulty gene, the palmitoyl-protein thioesterase 1 enzyme does not function adequately leading to malfunction of lysosomes.

Due to this, there is gradual accumulation of fatty products, sugar, and carbohydrates in the tissues of the body including the brain and spinal cord resulting in development of Santavuori disease.

Risk factors

What increases my risk for Santavuori disease?

Santavuori disease is an autosomal recessive disorder meaning that two copies of the faulty gene need to be inherited from each parent in order for a child to develop this condition. Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Santavuori disease diagnosed?

A diagnosis of Santavuori disease may be based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic physical findings, and a variety of specialized tests including enzyme assays and molecular genetic testing.

Clinical testing and workup

An enzyme assay is a test that measures the activity of a specific enzyme. For Santavuori disease, doctors will look for the activity of the enzyme palmitoyl-protein thioesterase 1 in white blood cells (leukocytes), a dried blood sample, or cultured fibroblasts. Cultured fibroblasts are connective tissue cells obtained from a skin sample and grown in a laboratory.

Molecular genetic testing can confirm a diagnosis of Santavuori disease. Molecular genetic testing looks for alterations (mutations) in the PPT1 gene known to cause the disorder, but is available only as a diagnostic service at specialized laboratories.

In some instances, diagnosis may require the microscopic examination (i.e., electron microscopy) and study of the chemical components (histochemical examination) of samples of tissue (biopsy), usually from the skin. The study of such tissue samples reveals abnormal accumulations of deposits (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) in membrane-bound cavities within the body (cytoplasm) of cells (inclusion bodies).

How is Santavuori disease treated?

There is no clear cut cure for Santavuori disease as the treatment is basically symptomatic and supportive.

The treatment for Santavuori disease will require a multidisciplinary team including neurologist, neurosurgeons, ophthalmologists, people with expertise in speech therapy, and the like.

The seizures and muscle spasms can be controlled with anticonvulsants and muscle relaxants.

Children who complain of anxiety and depression may be treated with anxiolytics and antidepressants.

Pain medications in the form of NSAIDs and opioids may also be given to cope with the pain the condition result in.

Additionally, the affected child may require aggressive physical therapy to regain some of the strength and movement back.

Affected children may benefit from occupational, physical, and speech therapy.

In some cases, affected infants may require the insertion of a tube through a small opening in the stomach (gastronomy tube) to ensure they receive sufficient food and nutrition.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Santavuori disease?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.


Review Date: February 6, 2018 | Last Modified: February 6, 2018

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