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Zorluk: OrtaPediatric Genetic and Metabolic Disorders

A 44-year-old boy is evaluated in the genetics clinic due to developmental delay and behavioral changes. His parents report that his early milestones were met on time, but over the past year, he has become increasingly hyperactive, aggressive, and his speech has regressed. Physical examination reveals a child with coarse facial features, a prominent forehead, and a widened nasal bridge. Abdominal examination demonstrates a liver edge palpable 4 cm4 \text{ cm} below the right costal margin and a palpable spleen. Musculoskeletal examination shows joint stiffness with decreased range of motion in the elbows, wrists, and knees. An ophthalmologic evaluation reveals clear corneas bilaterally without evidence of clouding. Which of the following is the most likely diagnosis?

  1. Hunter syndromeCevap
  2. B
    Hurler syndrome
  3. C
    Gaucher disease
  4. D
    Niemann-Pick disease
  5. E
    Tay-Sachs disease

Cevap

Hunter syndrome
The patient's presentation of developmental regression, coarse facial features, hepatosplenomegaly, and joint contractures without corneal clouding is characteristic of Hunter syndrome (mucopolysaccharidosis type II). It is an X-linked recessive lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase.

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1
Analyze the clinical presentation for syndromic features.
The patient has coarse facial features, hepatosplenomegaly, joint contractures, and developmental regression.
Identifying the constellation of physical and developmental signs points toward a mucopolysaccharidosis (MPS).
2
Evaluate the ophthalmologic findings.
The corneas are clear without any clouding.
The presence or absence of corneal clouding is the key differentiating feature between Hurler syndrome (MPS I) and Hunter syndrome (MPS II).
3
Synthesize the findings to establish the diagnosis.
The correct diagnosis is Hunter syndrome.
Hunter syndrome matches all clinical findings, specifically the lack of corneal clouding which rules out Hurler syndrome.

Anahtar Kavram

Hunter syndrome (Mucopolysaccharidosis type II)
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Konular

Pediatric Genetic and Metabolic Disorders

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