Hunter syndrome presenting as macrocephaly and hydrocephalus.

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Hunter syndrome (mucopolysaccharidosis II) is a rare genetic disorder.
• It results from deficiency of the enzyme iduronate-2-sulfatase, leading to glycosaminoglycan accumulation.
• Early diagnosis is crucial for timely intervention and management.

Observation:

• A 2-year-old boy presented with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly.
• The patient exhibited a paucity of obvious physical findings.
• His ethnic origin was also noted as a factor potentially complicating initial assessment.

Findings:

• The patient was diagnosed with mild Hunter syndrome (mucopolysaccharidosis II).
• Diagnostic challenges were attributed to the patient's young age and subtle clinical manifestations.
• This case highlights the importance of considering rare genetic disorders even with non-specific symptoms.

Implications:

• This case underscores the need for a high index of suspicion for mucopolysaccharidosis II in pediatric patients with neurological and visceral findings.
• It emphasizes the importance of integrating clinical observations with biochemical and genetic testing for accurate diagnosis.
• Early identification of mild Hunter syndrome allows for proactive management strategies to mitigate long-term complications.