RESUMO
We report an adolescent male with X-linked agammaglobulinemia (XLA) and recurrent episodes of pyogenic meningitis. The workup for proportionate short stature revealed isolated growth hormone deficiency. This patient highlights the delayed presentation of the XLA variant and the need to consider primary immunodeficiency in patients with recurrent serious infections, irrespective of age.
Assuntos
Agamaglobulinemia/complicações , Agamaglobulinemia/genética , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hormônio do Crescimento Humano/deficiência , Meningite/patologia , Adolescente , Antibacterianos/uso terapêutico , Eletroforese das Proteínas Sanguíneas , Estatura , Humanos , Contagem de Linfócitos , Masculino , Meningite/etiologia , Meningite/imunologia , Recidiva , Vômito/complicaçõesRESUMO
A 40 year old male victim of a road traffic accident presented to our emergency trauma services with multiple limb injuries and a Glasgow Coma Score (GCS) of 15/15. Soon after admission, he became confused, stuporous, febrile and tachycardic. A clinical diagnosis of thyrotoxic crisis precipitated by trauma was confirmed by relevant investigations, with appropriate therapeutic response. A review of the clinical features and management of this rare medical emergency, with only few cases reported worldwide, is presented.
