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Growth hormone deficiency in a case of crouzon syndrome with hydrocephalus

Mei-Hong Wen1, Hui-Pin Hsiao, Mei-Chyn Chao

  • 1Department of Pediatrics, Kaohsiung Municipal United Hospital, Kaohsiung 813, Taiwan.

International Journal of Pediatric Endocrinology
|June 30, 2010
PubMed

Insights

Crouzon syndrome, a craniofacial disorder, can present with severe growth retardation and hydrocephalus, potentially linked to growth hormone deficiency. This case highlights an unusual presentation requiring further investigation into associated endocrine abnormalities.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Crouzon syndrome is an autosomal dominant craniofacial disorder characterized by craniosynostosis.
  • It is typically associated with specific FGFR2 gene mutations.
  • Growth retardation is not a commonly reported feature.

Observation:

  • A case report of an 11.5-year-old boy with Crouzon syndrome presenting with severe growth retardation.
  • The patient exhibited hydrocephalus since infancy, dizziness, and significantly delayed bone age.
  • Magnetic resonance imaging revealed shallow orbits, obstructive hydrocephalus, and cerebellar tonsil herniation.

Findings:

  • Growth hormone provocative tests indicated a reduced peak growth hormone response.
  • Severe iron deficiency anemia was concurrently diagnosed.
  • Molecular analysis confirmed a Cys278Phe mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.

Implications:

  • This case suggests a potential association between Crouzon syndrome, hydrocephalus, and growth hormone deficiency.
  • Further research is warranted to understand the incidence and mechanisms of growth retardation in Crouzon syndrome.
  • Highlights the importance of comprehensive endocrine evaluation in craniofacial syndromes with atypical presentations.

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