Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux

Area of Science:

• Pediatric Gastroenterology
• Clinical Genetics
• Neurology

Background:

• Gastroesophageal reflux and feeding difficulties are common in infants.
• Sandifer syndrome is a condition characterized by gastrointestinal issues and abnormal posturing.
• G syndrome is a rare genetic disorder with distinctive facial features and neurological symptoms.

Observation:

• A 3-month-old male infant presented with severe gastroesophageal reflux, feeding difficulties, and dystonia in the neck and upper limbs.
• The infant exhibited abnormal ear morphology but otherwise normal genitalia, larynx, and trachea.
• Initial diagnosis was Sandifer syndrome, leading to surgical intervention (gastrostomy and Nissen fundoplication).

Findings:

• The patient's characteristic facial appearance was key to reconsidering the diagnosis.
• The clinical presentation, particularly the facial features, led to a revised diagnosis of G syndrome.
• This case highlights the importance of considering rare genetic syndromes beyond initial diagnoses.

Implications:

• Accurate diagnosis of G syndrome is crucial for appropriate management and genetic counseling.
• Recognizing the distinct features of G syndrome can prevent misdiagnosis and unnecessary procedures.
• This case underscores the need for a comprehensive diagnostic approach in complex pediatric cases.