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Revista alergia México
versión On-line ISSN 2448-9190
Resumen
STAINES-BOONES, Tamara Aidé; GONZALEZ-VILLARREAL, María Guadalupe y HERNANDEZ-FERNANDEZ, Cecilia. Cartilage-hair hypoplasia. A case report. Rev. alerg. Méx. [online]. 2019, vol.66, n.3, pp.379-383. Epub 19-Feb-2020. ISSN 2448-9190. https://doi.org/10.29262/ram.v66i3.561.
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.
Palabras llave : Cartilage-hair hypoplasia; Non-severe combined immunodeficiency; Hematopoietic stem cell transplantation.