This case reports an acute porphyria-like crisis in a child with tyrosinemia type 1, revealing severe hyponatremia and highlighting the role of fluid management.
Key Points
Management with intravenous hemin therapy led to full neurological recovery in a 9-year-old girl.
The patient exhibited severe symptomatic hyponatremia and presented with abdominal pain and vomiting.
This case marks the first successful treatment of an acute porphyria-like episode in tyrosinemia type 1 in Türkiye.
Recognition of SIADH is crucial for effective management in acute neurological crises associated with tyrosinemia type 1.