A boy with 13q deletion syndrome and bilateral retinoblastoma diagnosed owing to poor weight gain and developmental delay

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  • Akiyama Masaharu
    Department of Pediatrics, The Jikei University Hospital Division of Clinical Genetics, The Jikei University Hospital
  • Honda Takaya
    Department of Pediatrics, The Jikei University Hospital
  • Tanaka Katsuo
    Department of Pediatrics, The Jikei University Hospital
  • Gonmori Chizuru
    Department of Pediatrics, The Jikei University Hospital
  • Sasamoto Takeaki
    Department of Pediatrics, The Jikei University Hospital
  • Yamaoka Masayoshi
    Department of Pediatrics, The Jikei University Hospital
  • Yanagisawa Takaaki
    Department of Neurosurgery, The Jikei University Hospital
  • Suzuki Shigenobu
    Department of Ophthalmic Oncology, National Cancer Center Hospital
  • Kawame Hiroshi
    Department of Pediatrics, The Jikei University Hospital Division of Clinical Genetics, The Jikei University Hospital

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  • 発達遅滞を契機に両側性網膜芽細胞腫合併の13q欠失症候群と診断された男児

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Abstract

<p>　An 8-month-old Japanese boy had been found at the 7-month health checkup to have poor weight gain and developmental delay. Bilateral retinoblastoma was diagnosed owing to bilateral intraocular neoplastic lesions found with magnetic resonance imaging and funduscopy. Chromosome examination revealed deletion of 46, XY, del (13) (q14q22), and the fluorescence in situ hybridization revealed deletion of region 13q14 of the RB transcriptional corepressor 1 gene (RB1)． Furthermore, the multiplex ligation-dependent probe amplification identified total deletion of exons 1 to 27 of RB1. These results led to the diagnosis of 13q deletion syndrome associated with retinoblastoma. In such cases, retinoblastoma must be treated and multifocal support, such as an early rehabilitation program against developmental delay, follow-up for future development of secondary cancer, and genetic counseling for the parents, should be suggested.</p>

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