First manifestation of citrullinemia type I as Sandifer syndrome

Area of Science:

• Pediatrics
• Metabolic Disorders
• Genetics

Background:

• Sandifer syndrome is characterized by a combination of gastrointestinal dysfunction and abnormal posturing.
• Urea cycle disorders are a group of genetic metabolic diseases characterized by defects in the urea cycle.

Purpose of the Study:

• To report the first case of citrullinemia type I presenting with Sandifer syndrome.
• To emphasize the need to include urea cycle disorders in the differential diagnosis of Sandifer syndrome.

Main Methods:

• Clinical presentation of an eleven-month-old infant girl.
• Metabolic evaluation.
• Molecular analysis.

Main Results:

• The infant was clinically diagnosed with Sandifer syndrome.
• Metabolic evaluation and molecular analysis confirmed citrullinemia type I.
• This is the first reported case of citrullinemia type I presenting as Sandifer syndrome.

Conclusions:

• Sandifer syndrome presentation can be a sign of underlying urea cycle disorders, specifically citrullinemia type I.
• Urea cycle disorders should be considered in the differential diagnosis of patients presenting with Sandifer syndrome.