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Rev Alerg Mex. 2019 Jul-Sep;66(3):379-383. doi: 10.29262/ram.v66i3.561.

[Cartilage-hair hypoplasia. A case report].

[Article in Spanish; Abstract available in Spanish from the publisher]

Author information

1
Instituto Mexicano del Seguro Social, Hospital de Especialidades, Servicio de Alergia e Inmunología, Monterrey, Nuevo León, México. ceciliahernandezfdez@gmail.com.

Abstract

in English, Spanish

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.

KEYWORDS:

Cartilage-hair hipoplasia; Hematopoietic stem cell transplantation; Non-severe combined immunodeficiency

PMID:
31606024
DOI:
10.29262/ram.v66i3.561

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