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Central hypothyroidism and Sturge-Weber syndrome
Anne M Comi1, Sridevi Bellamkonda, Lisa M Ferenc
1Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA. comi@kennedykrieger.org
Pediatric Neurology
|June 17, 2008
Summary
Sturge-Weber syndrome patients with brain involvement have a higher risk of central hypothyroidism. Routine thyroid function testing is crucial for early detection and management in these individuals.
Area of Science:
- Endocrinology
- Neurology
- Genetics
Background:
- Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by facial port-wine stains and intracranial vascular malformations.
- SWS is associated with neurological complications including seizures and stroke-like episodes.
- Previous research indicated a higher prevalence of growth hormone deficiency in SWS patients, suggesting hypothalamic-pituitary axis involvement.
Observation:
- This study screened patients with SWS for hormonal abnormalities at a specialized multidisciplinary center.
- Two out of 83 pediatric patients (2.4%) with SWS and brain involvement were diagnosed with central hypothyroidism.
- The observed prevalence of central hypothyroidism in SWS patients significantly exceeds that in the general population.
Findings:
- Central hypothyroidism was diagnosed based on clinical presentation and laboratory results in pediatric SWS patients.
- The findings suggest a higher incidence of hypothalamic-pituitary dysfunction in SWS patients with central nervous system involvement.
- Anticonvulsant medications, commonly used in SWS, can also affect thyroid function, potentially exacerbating central hypothyroidism.
Implications:
- Routine thyroid function testing is recommended for all patients with Sturge-Weber syndrome, particularly those with neurological involvement.
- Early identification of central hypothyroidism in SWS patients allows for timely intervention and management of potential complications.
- This highlights the importance of comprehensive endocrine screening in the multidisciplinary care of Sturge-Weber syndrome.
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