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[Macrocephaly and multiple hamartoma: a very variable entity].

J N Mcheik1, M P Cordier, M Longy

  • 1Service de chirurgie pédiatrique, centre hospitalo-universitaire de Poitiers, 350, avenue Jacques-Coeur, BP 577, 86021 Poitiers, France. j.mcheik@chu-poitiers.fr

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|January 1, 2004
PubMed
Summary
This summary is machine-generated.

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Bannayan-Zonana syndrome, a rare polymalformation disorder, presents with macrocephaly and lipomas. This case highlights its variable expression and the need for management, even without PTEN gene mutations.

Area of Science:

  • Genetics and rare diseases
  • Pediatric neurology and dysmorphology

Context:

  • Bannayan-Zonana syndrome is an autosomal dominant polymalformation disorder.
  • The syndrome is characterized by multiple hamartomas and significant variability in clinical presentation.
  • Macrocephaly is a consistent feature across various hamartoma syndromes.

Purpose:

  • To report a case of Bannayan-Zonana syndrome in a pediatric patient.
  • To discuss the clinical manifestations, including macrocephaly and cervical lipoma.
  • To explore the genetic underpinnings and diagnostic challenges, noting the absence of PTEN mutations.

Summary:

  • A 3-year-old girl with Bannayan-Zonana syndrome presented with macrocephaly and a progressive cervical lipoma.
  • Her mother had a history of neurofibromatosis I, suggesting potential overlapping or related genetic factors.

Related Experiment Videos

  • No PTEN gene mutation was identified, underscoring the genetic heterogeneity of the condition.
  • Surgical reduction of the lipoma was required due to its progressive nature.

    • Impact:

    • This case contributes to understanding the phenotypic variability of Bannayan-Zonana syndrome.
    • It emphasizes the importance of clinical observation and management of specific manifestations like lipomas.
    • Highlights the diagnostic complexity of hamartoma syndromes, especially when common genetic markers are absent.