Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis and xerostomia syndrome caused by a novel claudin-10 variant in an adult with hypokalaemic metabolic alkalosis.
Santosha Mantha, Sanket Tiven Marwah, Vikram Singh Shekhawat et al.
✦ AI-curated · Sources linked
Case in brief
A man in his mid-30s presented with persistent hypokalaemia and was initially suspected to have Gitelman syndrome due to hypokalaemic metabolic alkalosis. However, atypical findings, including normal magnesium levels and low urine osmolality, led to further evaluation. Genetic testing revealed a novel variant in CLDN10, confirming HELIX syndrome. The patient required short-term potassium supplementation, after which his serum potassium stabilized.
What made this case unusual
The case highlights a novel homozygous frameshift variant in CLDN10, expanding the mutational spectrum of HELIX syndrome.
Diagnostic / clinical pearl
Clinicians should consider HELIX syndrome in patients presenting with features resembling Gitelman syndrome but with preserved serum magnesium levels.
Why it matters
This case underscores the importance of genetic testing in atypical presentations to ensure accurate diagnosis and management.