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A 1-year and 4-month-old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia

Solomie Jebessa Deribessa1, Mekdes Endale Bisrat1, Zewdu Terefework2

  • 1Department of Pediatrics and Child Health St. Paul's Hospital Millennium Medical College Addis Ababa Ethiopia.

Clinical Case Reports
|December 1, 2021
PubMed

Insights

This case report details a young boy diagnosed with Mucopolysaccharidoses type II (MPS II), or Hunter syndrome, an X-linked genetic disorder. Early recognition and genetic testing confirmed the diagnosis, crucial for patient management.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Mucopolysaccharidoses (MPSs) are lysosomal storage disorders caused by enzyme deficiencies in glycosaminoglycan degradation.
  • MPS II (Hunter syndrome) is an X-linked recessive disorder, distinct from other autosomal recessive MPS types.
  • Early diagnosis is critical for managing progressive symptoms and improving patient outcomes.

Observation:

  • A 1-year-and-4-month-old boy presented with developmental delays, back deformity, and scrotal swelling.
  • Clinical features included coarse facial appearance, macrocephaly, widened wrists, thoracolumbar kyphosis, and inguinal hernia.
  • These signs were consistent with a clinical suspicion of MPS II.

Findings:

  • Genetic testing confirmed the diagnosis of MPS II through pathogenic variants in the IDS gene.
  • This represents the first reported case of MPS II in Ethiopia.
  • The confirmation provided essential natural history and surveillance data.

Implications:

  • Highlights the importance of early clinical recognition of rare genetic disorders like MPS II.
  • Demonstrates the critical role of genetic testing in confirming diagnoses and guiding patient care.
  • Emphasizes the need for increased awareness and diagnostic capabilities for MPS in underrepresented regions.

Keywords:
Hunter syndromeglycosaminoglycansiduronate‐2‐sulfatasemucopolysaccharidosis

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