Cranioectodermal dysplasia (CED) in sisters diagnosed with acute heart failure

DOI Web Site 11 References
  • Saito Ayako
    Department of Pediatrics, Ibaraki Childrenʼs Hospital
  • Izumi Isho
    Department of Pediatrics, Ibaraki Childrenʼs Hospital
  • Suzuki Ryutaro
    Department of Pediatrics, Ibaraki Childrenʼs Hospital
  • Tsukakoshi Takashi
    Department of Pediatrics, Ibaraki Childrenʼs Hospital
  • Lisheng Lin
    Department of Pediatrics, Ibaraki Childrenʼs Hospital
  • Shiono Junko
    Department of Pediatrics, Ibaraki Childrenʼs Hospital
  • Horigome Hitoshi
    Department of Pediatrics, Ibaraki Childrenʼs Hospital
  • Inagaki Ryusuke
    Department of Neurosurgery, Ibaraki Childrenʼs Hospital
  • Hamada Riku
    Department of Nephrology, Tokyo Metropolitan Childrenʼs Medical Center
  • Hataya Hiroshi
    Department of Nephrology, Tokyo Metropolitan Childrenʼs Medical Center
  • Ogata Kentaro
    Department of Pathology, Federation of National Public Service Personnel Mutual Aid Associations, Tachikawa Hospital
  • Morisada Naoya
    Department of Pediatrics, Kobe University Graduate School of Medicine
  • Nozu Kandai
    Department of Pediatrics, Kobe University Graduate School of Medicine
  • Iijima Kazumoto
    Department of Pediatrics, Kobe University Graduate School of Medicine
  • Sumazaki Ryo
    Department of Pediatrics, Ibaraki Childrenʼs Hospital

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Other Title
  • 急性心不全を契機に発見された頭蓋外胚葉異形成(CED)の姉妹例

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Abstract

<p>Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disease characterized by craniofacial and skeletal abnormalities and chronic kidney diseases, mainly nephronophthisis. We report sisters with heterozygous mutations in their WDR35 gene that caused their CED. Case 1 is the elder sister, and case 2 is the younger sister. Both have undergone surgery for craniosynostosis. Case 1 went to the hospital because she was pale at 3 years of age and was admitted with acute heart and renal failure. Case 2 visited our department at 1 year and 9 months of age, just after her sister was admitted. Both renal pathologies showed nephronophthisis and kidney alternative therapies were started. We checked their past blood tests and found that their chronic kidney diseases started from infancy. However, when we diagnosed renal failure, secondary heart failure had already developed. When skull, face, and skeletal abnormalities are observed, it is important to check renal function. Keeping CED in mind could prevent severe complications.</p>

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