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.
Key words
Cerebellar ataxia - Delayed myelination - Pancytopenia - Thrombocytopenia - Immunodeficiency - Høyeraal-Hreidarsson syndrome
References
-
1
Aalfs C M, van den Berg H, Barth P G, Hennekam R CM.
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.
Eur J Pediatr.
1995;
154
304-308
-
2
Berthet F, Caduff R, Schaad U B, Roten H, Tuchschmid P, Boltshauser E, Seger R A.
A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.
Eur J Pediatr.
1994;
153
333-338
-
3
Berthet F, Tuchschmid P, Boltshauser E, Seger R A.
The Hoyeraal-Hreidarsson syndrome: Don't forget the associated immunodeficiency.
Eur J Pediatr.
1995;
154
998
-
4
Carbonari M, Cherchi M, Paganelli R, Giannini G, Galli E, Gaetano C, Papetti C, Fiorilli M.
Relative increase of T cells expressing the gamma/delta rather than the alpha/beta receptor in ataxia-telangiectasia.
N Engl J Med.
1990;
322
73-76
-
5
Giampietro P F, Adler-Brecher B, Verlander P C, Pavlakis S G, Davis J G, Auerbach A D.
The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.
Pediatrics.
1993;
91
1116-1120
-
6
Hoar D I, Sargent P.
Chemical mutagen hypersensitivity in ataxia telangiectasia.
Nature.
1976;
261
590-592
-
7
Høyeraal H M, Lamvik J, Moe P J.
Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers.
Acta Pediatr Scand.
1970;
59
185-191
-
8
Hreidarsson S, Kristjansson K, Johannesson G, Johannsson J H.
A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.
Acta Pediatr Scand.
1988;
77
773-775
-
9
Li F P, Hecht F, Kaiser-McCaw B, Baranko P V, Potter N U.
Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia.
Cancer Genet Gytogenet.
1981;
4
189-196
-
10
Mahmood F, King M D, Smyth O P, Farrell M A.
Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.
Neuropediatrics.
1998;
29
302-306
-
11
Nespoli L, Lascari C, Maccario R, Nosetti L, Broggi U, Locatelli F, Binda S, Gaudio F, Casalone R, Bosi F.
The Høyeraal-Hreidarsson syndrome: the presentation of the seventh case.
Eur J Pediatr.
1997;
156
818-820
-
12
Strich S J.
Pathological findings in three cases of ataxia-telangiectasia.
J Neurol Neurosurg Psychiat.
1966;
29
489-499
-
13
Toyoshima M, Hara T, Zhang H, Yamamoto T, Akaboshi S, Nanba E, Ohno K, Hori N, Sato K, Takeshita K.
Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase like domain.
Am J Med Genet.
1998;
75
141-144
-
14
Welshimer K, Swift M.
Congenital malformations and developmental disablilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.
Am J Hum Genet.
1982;
34
781-793
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
