Cartilage-hair hypoplasia. A case report
Background: Cartilage-hair hypoplasia is a rare autosomal recessive disease, which is characterized by metaphyseal chondrodysplasia and thin hair. It can be accompanied by immunological disorders in varying degrees. Clinical case: The case of a 35-month-old girl is described. Since her birth, with...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Colegio Mexicano de Inmunología Clínica y Alergia, A.C.
2019-06-01
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| Series: | Revista Alergia México |
| Subjects: | |
| Online Access: | http://revistaalergia.mx/ojs/index.php/ram/article/view/561 |
| Summary: | Background: Cartilage-hair hypoplasia is a rare autosomal recessive disease, which is characterized by metaphyseal chondrodysplasia and thin hair. It can be accompanied by immunological disorders in varying degrees.
Clinical case: The case of a 35-month-old girl is described. Since her birth, with growth restriction, she has developed pneumonia eleven times, malabsorption syndrome and aganglionic megacolon, which is why she was diagnosed with cartilage-hair hypoplasia, with expression of non-severe combined immunodeficiency. The decision was to proceed with hematopoietic stem cell transplantation. At the time of this report, the patient was free from infectious processes.
Conclusion: Cartilage-hair hypoplasia is a condition with diverse clinical features and different degrees of immunodeficiency. As part of the treatment, it is possible to perform haematopoietic stem cell transplantation. |
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| ISSN: | 0002-5151 2448-9190 |