RESUMO
Eyaid's syndrome or Transaldolase Deficiency (TD) (OMIM 606003) is a rare autosomal recessive inborn error of metabolism. In this report, we describe the case of an eight-year-old Saudi girl with a history of hepatosplenomegaly since infancy, who presented to the emergency department for a short history of cough and worsening cyanosis. She had growth retardation, facial dysmorphia, cardiac defect, neutropenia, and thrombocytopenia, besides hepatosplenomegaly. A thorough investigation led to the diagnosis of hepatopulmonary syndrome and whole exome sequencing showed a homozygous frameshift variant in the TALDO1gene, c.793del, p.Gln265fs. Thus, the patient was diagnosed with TD complicated with hepatopulmonary syndrome, and the indication of liver transplantation was discussed.
RESUMO
Sarcoidosis is a rare condition among native Saudis. It typically presents with asymptomatic chest radiographs, exertional breathlessness and cough. The coexistence of sarcoidosis and HIV is also rare, and the overlap of the symptoms makes their differential diagnosis challenging. Nevertheless, the outcome of sarcoidosis is favourable with or without the presence of HIV. We present a case of a 55-year-old native Saudi man with extremely atypical sarcoidosis presentation coexisting with HIV. This case highlights the association between the two pathologies, and the difficulties encountered in establishing a proper diagnosis in the presence of two overlapping diseases.
