Hoyeraal–Hreidarsson syndrome
Medical condition
From Wikipedia, the free encyclopedia
Hoyeraal–Hreidasson syndrome[2] is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita.[2][3] Being an X-linked disorder, Hoyeraal–Hreidasson syndrome primarily affects males. Patients typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth restriction.[2] The primary cause of death in Hoyeraal–Hreidasson syndrome is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant.[4][5][6]
| Hoyeraal–Hreidarsson syndrome | |
|---|---|
| Other names | Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome[1] |
| |
| This condition is inherited in an X-linked recessive manner. | |
| Specialty | Medical genetics  |
| Causes | Mutation in genes related to telomere maintenance |
Presentation
The currently recognized features are cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth restriction. Patients also commonly exhibit symptoms such as microcephaly, aplastic anemia, and intellectual disability.[3]
Overlap with dyskeratosis congenita
Patients with Hoyeraal–Hreidasson syndrome frequently present with the mucocutaneous triad of nail dysplasia, lacy skin pigmentation, and oral leukoplakia.[citation needed]
Pathogenesis
Diagnosis
- Neuroimaging – cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications
- Molecular genetic testing – for confirmation
Treatment
Current treatment is supportive:[citation needed]
- The aplastic anemia and immunodeficiency can be treated by bone marrow transplantation.
- Supportive treatment for gastrointestinal complications and infections.
- Genetic counselling.