What are the signs and symptoms?
Children with OCLN-related disorder typically show signs from very early in life.
Nearly all children will have:
• A small and slow-growing head:Often already smaller than average at birth, with growth slowing further over time
• Seizures that start very early: Usually within the first few months; can be difficult to control even with several medications
• Severe developmental delay:Most children do not reach typical milestones; some manage small steps like holding their head up or social smiling
• Low muscle tone that becomes stiffness over time:Babies often start "floppy," progressing to stiffness in the arms and legs
• Specific brain scan findings:A characteristic band of calcium deposits and an unusual brain folding pattern (polymicrogyria)
Some children will also have:
• Kidney problems:Ranging from mild changes on scans to more serious kidney dysfunction over time
• Diabetes insipidus:Excessive urination and risk of dehydration; usually treatable with desmopressin once recognized
• Heart or other organ differences:Such as a septal defect, cleft lip or palate
• Feeding difficulties:Related to low muscle tone and swallowing coordination
• Vision or hearing difficulties
The severity and exact combination of symptoms can vary from child to child, even within the same family.
OCLN