Santavuori disease

Santavuori disease
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, seizures, vision loss
Complications	N/A
Onset	Infancy
Duration	Progressive
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care
Medication	N/A
Prognosis	Poor
Frequency	Rare
Deaths	N/A

Santavuori disease, also known as infantile neuronal ceroid lipofuscinosis, is a rare, inherited neurodegenerative disorder that primarily affects infants. It is one of the forms of neuronal ceroid lipofuscinosis (NCL), a group of disorders characterized by the accumulation of lipopigments in the body's tissues.

Etiology

Santavuori disease is caused by mutations in the CLN1 gene, which provides instructions for making an enzyme called palmitoyl-protein thioesterase 1 (PPT1). This enzyme is involved in the breakdown of certain proteins in the lysosome, a compartment within cells that digests and recycles materials. Mutations in the CLN1 gene lead to a deficiency of PPT1, resulting in the accumulation of lipopigments in the neurons and other cells, which is toxic and leads to cell death.

Clinical Presentation

The symptoms of Santavuori disease typically begin between 6 months and 2 years of age. Early signs include:

• Developmental delay
• Seizures
• Vision loss
• Hypotonia (reduced muscle tone)
• Ataxia (lack of muscle coordination)

As the disease progresses, affected children may experience:

• Myoclonus (involuntary muscle jerks)
• Dementia
• Spasticity
• Loss of motor skills

Diagnosis

Diagnosis of Santavuori disease is based on clinical evaluation, family history, and genetic testing. Magnetic resonance imaging (MRI) of the brain may show characteristic changes, and an electroencephalogram (EEG) may reveal abnormal brain activity. Genetic testing can confirm mutations in the CLN1 gene.

Pathophysiology

The pathophysiology of Santavuori disease involves the accumulation of autofluorescent lipopigments, known as ceroid and lipofuscin, within the lysosomes of neurons and other cells. This accumulation disrupts normal cellular function and leads to progressive neurodegeneration.

Management

There is currently no cure for Santavuori disease, and treatment is primarily supportive. Management strategies include:

• Anticonvulsant medications to control seizures
• Physical therapy to maintain mobility
• Occupational therapy to assist with daily activities
• Nutritional support

Prognosis

The prognosis for individuals with Santavuori disease is poor. The disease is progressive, and most affected children do not survive beyond early childhood.

Epidemiology

Santavuori disease is a rare condition, with a higher prevalence in certain populations, such as those of Finnish descent. The exact incidence is unknown, but it is considered one of the rarer forms of neuronal ceroid lipofuscinosis.

History

Santavuori disease was first described by Finnish neurologist Pentti Santavuori in the 1970s. It is part of a group of disorders known as the Finnish disease heritage, which includes several rare genetic conditions more common in Finland.

See also

• Neuronal ceroid lipofuscinosis
• Neurodegenerative disease
• Genetic disorder