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  3. Infantile neuronal ceroid lipofuscinosis
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Infantile neuronal ceroid lipofuscinosis


Title




Other Names:
Lipofuscin storage disease; Hagberg-Santavuori disease; INCL; Lipofuscin storage disease; Hagberg-Santavuori disease; INCL; Infantile NCL; Santavuori disease; Santavuori-Haltia disease See More

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 79263

Definition
Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.

Epidemiology
Infantile NCL occurs worldwide but is most common in Finland with a prevalence of around 1/190,000 and incidence of 1/20,000 live births. The disorder is less frequent in other Scandinavian countries with a prevalence of below 1/1,000,000 in Sweden and Norway.

Clinical description
After an initial period of normal development, the disorder manifests after six months of age when mental development reaches a plateau and then starts to deteriorate, accompanied by motor dysfunction. The deterioration of mental abilities is accompanied by seizures, spasticity and loss of vision. Brain atrophy results in slower than normal growth of the head circumference and microcephaly. Stiffness and irritability may also be noted. Psychomotor abilities deteriorate rapidly and children fail to thrive leading to a vegetative state within several months.

Etiology
INCL is inherited in an autosomal recessive manner and is caused by mutations in the PPT1 gene (designated CLN1; 1p32) encoding the lysosomal enzyme palmitoyl-protein thioesterase 1.

Diagnostic methods
Diagnosis is based on clinical findings from neurologic and ophthalmologic examinations and development assessments, and measurement of activity of palmitoyl-protein thioesterase 1 in leukocytes, dry blood samples or cultured skin fibroblast cells. The diagnosis can be confirmed by molecular analysis. Pathologic studies reveal the presence of autofluorescent lysosomal granular osmophilic deposits (GRODs) with characteristic accumulation of saposins A and D.

Differential diagnosis
The differential diagnosis should include other early-onset progressive neurologic diseases, including infantile Krabbe disease, early-stage Rett syndrome and gangliosidosis (see these terms).

Antenatal diagnosis
Prenatal diagnosis is possible on the basis of enzymatic analysis or molecular genetic testing if the mutation in the family has already been identified.

Genetic counseling
Genetic counseling should be provided to affected families.

Management and treatment
There is no curative treatment. Management consists of palliative care including administration of anticonvulsive drugs and treatment of severe spasticity with muscular relaxants. Oral opiates or fentanyl-containing plasters can be helpful for management of painful spastic crises occurring later in the disease course. Stem cell therapy may provide an alternative treatment for INCL in the future.

Prognosis
The prognosis is severe but life expectancy is variable, depending on the use of supportive measures such as gastrostomy feeding.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2010

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 17 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal electroretinogram 0000512
Abnormality of visual evoked potentials 0000649
Ataxia 0001251
Blindness 0000618
Cerebral atrophy
Degeneration of cerebrum
0002059
EEG abnormality 0002353
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Irritability
Irritable
0000737
Macular dystrophy 0007754
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Motor deterioration
Progressive degeneration of movement
0002333
Myoclonus 0001336
Optic atrophy 0000648
Seizure 0001250
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
0000733
Visual loss
Loss of vision
Vision loss
[ more ]
0000572
Showing of 17 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Infantile neuronal ceroid lipofuscinosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Infantile neuronal ceroid lipofuscinosis. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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