Neuropediatrics 2000; 31(3): 141-144
DOI: 10.1055/s-2000-7531
Short Communication

Georg Thieme Verlag Stuttgart · New York

A Case of Høyeraal-Hreidarsson Syndrome: Delayed Myelination and Hypoplasia of Corpus Callosum are Other Important Signs

Shinjiro Akaboshi1 , Masaki Yoshimura1 , Toshiro Hara1 , Hiroko Kageyama1 , Ken-ichi Nishikwa2 , Tetsuo Kawakami2 , Atsushi Ieshima3 , Kenzo Takeshita1
  • 1 Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
  • 2 Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan
  • 3 Department of Pediatrics, Tottori Prefectural Kaike Rehabilitation Center for Disabled Children, Yonago, Japan
Weitere Informationen

Publikationsverlauf

Publikationsdatum:
31. Dezember 2000 (online)

We report the case of a 7-year old girl with Høyeraal-Hreidarsson syndrome (HHS) and review other cases of HHS. In addition to the previously described important signs of HHS, i.e., prenatal growth retardation, microcephaly, psychomotor retardation, progressive pancytopenia, immunological abnormalities, and cerebellar hypoplasia and ataxia, we consider that delayed myelination of cerebral white matter and hypoplastic corpus callosum should be added to the list of important signs. However, it is not clear whether delayed myelination of white matter in HHS indicates dysmyelination or demyelination. Furthermore, we suggest that immunological abnormalities of both T and B cells are one of the important signs of HHS. We consider these new important signs to be valuable for the diagnosis of HHS.

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M.D. Shinjiro Akaboshi

Division of Child Neurology Institute of Neurological Sciences Faculty of Medicine Tottori University Nishi-machi 36-1 Yonago 683-8504 Japan