From the specialties

New guide for follow-up of tuberous sclerosis

Norwegian

Ine Cockerell, Marit Bjørnvold, Ragnar Solhoff, Jon Arne Birkeland, Aart Imran Issa-Epe, Nicolai Wessel, Arild Egge, Aina Akerø, Jan Cezary Sitek, Mia Tuft, Caroline Lund

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Ine Cockerell

Ine Cockerell PhD, registered nurse and advisor at the Norwegian Centre for Rare Diseases, Unit for Brain Disorders, Oslo University Hospital

The author has completed the ICMJE form and declares the following conflict of interest: she has given a talk for UCB Nordic, with no financial compensation.

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Marit Bjørnvold

Marit Bjørnvold PhD, specialist in paediatric medicine and head of section at the National Center for Epilepsy, (SSE), Oslo University Hospital

The author has completed the ICMJE form and declares the following conflict of interest: she has received lecture fees from Jazz Pharmaceuticals.

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Ragnar Solhoff

Ragnar Solhoff, specialist in neurology and senior consultant at the Department of Adult Habilitation Services, Sørlandet Hospital

The author has completed the ICMJE form and declares no conflicts of interest.

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Jon Arne Birkeland

Jon Arne Birkeland PhD, specialist in nephrology and senior consultant at the Department of Nephrology, Oslo University Hospital

The author has completed the ICMJE form and declares no conflicts of interest.

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Aart Imran Issa-Epe

Aart Imran Issa-Epe, specialist in radiology and senior consultant at the Department of Radiology, Oslo University Hospital

The author has completed the ICMJE form and declares no conflicts of interest.

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Nicolai Wessel

Nicolai Wessel, specialist in urology and senior consultant at the Department of Urology, Oslo University Hospital

The author has completed the ICMJE form and declares no conflicts of interest.

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Arild Egge

Arild Egge, specialist in neurosurgery and senior consultant at the Department of Neurosurgery, Oslo University Hospital

The author has completed the ICMJE form and declares no conflicts of interest.

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Aina Akerø

Aina Akerø, specialist in pulmonary medicine and senior consultant at the Department of Respiratory Medicine, Oslo University Hospital

The author has completed the ICMJE form and declares no conflicts of interest.

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Jan Cezary Sitek

Jan Cezary Sitek, specialist in dermatology and venereology and head of the Department of Rheumatology, Dermatology and Infectious Diseases, Oslo University Hospital

The author has completed the ICMJE form and declares no conflicts of interest.

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Mia Tuft

Mia Tuft PhD, specialist in clinical neuropsychology at the Norwegian Centre for Rare Diseases, Unit for Brain Disorders, Oslo University Hospital

The author has completed the ICMJE form and declares no conflicts of interest.

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Caroline Lund

Caroline Lund PhD, specialist in neurology and senior consultant at the Norwegian Centre for Rare Diseases, Unit for Brain Disorders, and the Department of Neurohabilitation, Oslo University Hospital

The author has completed the ICMJE form and declares the following conflicts of interest: she has received lecture fees from Jazz Pharmaceuticals and UCB Nordic, and fees for participation in expert panels from Jazz Pharmaceuticals.

Article

Patients with tuberous sclerosis complex (TSC) are followed up by multiple medical specialties throughout their lives. The revised guide can be used by paediatricians, general practitioners and other specialists.

Information on tuberous sclerosis should be easily accessible and up to date. Because it is a rare disease, limited knowledge among healthcare providers can lead to inadequate follow-up and treatment. A revised guide for the follow-up of tuberous sclerosis is now available, along with a clinical procedure for treatment with mTOR inhibitors (1, 2).

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder affecting approximately 1 in 6,000–10,000 live births (3). The condition may be diagnosed in the fetus, in childhood or in adulthood, depending on symptoms and findings. It is estimated that 5–9 children are born with the diagnosis annually in Norway. The disease is caused by pathogenic variants in either TSC1 or TSC2, leading to overactivation of the mechanistic target of rapamycin (mTOR) signalling pathway and the development of tumours in multiple organs. The brain, kidneys, heart, lungs and skin are most frequently affected (4). Drug resistant epilepsy is common (5), and tumours, particularly in the brain, kidneys and lungs, can lead to life-threatening complications (3, 4).

Systematic follow-up

Systematic follow-up

Patients should be followed systematically by paediatricians in childhood and by multiple specialists in adulthood in order to monitor disease progression across organ systems (3). Early treatment of epilepsy is important and can improve cognitive development (3). There is no curative treatment, but immunomodulatory therapy with the mTOR inhibitor everolimus can slow the growth of certain tumours (3, 6, 7). Everolimus is generally well tolerated but can cause serious adverse effects (6, 7).

The Norwegian Centre for Rare Diseases at Oslo University Hospital has revised the Norwegian guide for follow-up and treatment of tuberous sclerosis (1) and devised a new clinical procedure for treatment with everolimus (2).

Systemic treatment with everolimus is, in some cases, recommended for drug-resistant epilepsy and for subependymal giant cell astrocytomas when surgical intervention is not feasible, or for renal angiomyolipomas with a risk of complications (3).

Patients may also benefit from topical formulations containing mTOR inhibitors (6). mTOR inhibitors may be considered in patients with lymphangioleiomyomatosis or cardiac rhabdomyomas (1).

Clinicians can refer patients to the tuberous sclerosis network (8) for advice on medical follow-up and treatment. The network comprises specialists from all relevant disciplines. In Norway, management of the disease is not centralised, unlike in many other countries (4), and the network therefore plays an important role in ensuring equal access to high-quality care nationwide.

References

Nasjonalt senter for sjeldne diagnoser. Veileder: tuberøs sklerose. https://share.articulate.com/ce6CxJVqPHavhPG-YVR32 Accessed 26.3.2026.
Oslo universitetssykehus. Behandling med mTor-hemmer (Votubia - everolimus) ved tuberøs sklerose. https://ehandboken.ous-hf.no/document/136599 Accessed 26.3.2026.
International Tuberous Sclerosis Complex Consensus Group. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol 2021; 123: 50–66. [PubMed][CrossRef]
Zöllner JP, Franz DN, Hertzberg C et al. A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC). Orphanet J Rare Dis 2020; 15: 23. [PubMed][CrossRef]
Chu-Shore CJ, Major P, Camposano S et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 2010; 51: 1236–41. [PubMed][CrossRef]
Sasongko TH, Kademane K, Chai Soon Hou S et al. Rapamycin and rapalogs for tuberous sclerosis complex. Cochrane Database Syst Rev 2023; 7.. [PubMed]
Cockerell I, Christensen J, Hoei-Hansen CE et al. Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice. Orphanet J Rare Dis 2023; 18: 377. [PubMed][CrossRef]
Oslo universitetssykehus. Rådgivende nettverk for medisinsk oppfølging og behandling ved tuberøs sklerose. https://www.oslo-universitetssykehus.no/avdelinger/barne-og-ungdomsklinikken/avdeling-for-sjeldne-diagnoser/sjeldensenteret-hjernesykdommer/radgivende-nettverk-for-medisinsk-oppfolging-og-behandling-ved-tuberos-sklerose/ Accessed 26.3.2026.

Published: 2 June 2026

Tidsskr Nor Legeforen 2 June 2026 Vol. 146.

doi:

10.4045/tidsskr.26.0183

Received 7.4.2026, first revision submitted 20.4.2026, accepted 27.4.2026.

Copyright: ©️️ Tidsskriftet 2026

Published: 2 June 2026

Tidsskr Nor Legeforen 2026 Vol. 146.

doi: 10.4045/tidsskr.26.0183

Received 7.4.2026, first revision submitted 20.4.2026, accepted 27.4.2026.

Copyright:
©️️ Tidsskriftet 2026

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