Fatemeh Aghamahdi - Assistent professor of Alborz University of Medical Sciences
Hananeh Tosifi - Department of Pediatrics, Alborz University of Medical Sciences, Karaj, IR Iran
Salma Akhtari Amoli - Pediatric Nursing, Imam Ali Clinical Developmental Unit, Alborz University of Medical Sciences, Karaj, IR Iran
Malihe Shams Nateri - Pediatric Nursing, Imam Ali Clinical Developmental Unit, Alborz University of Medical Sciences, Karaj, IR Iran

Introduction:Galactosaemia is an autosomal recessive disorder of galactose metabolism. It occurs as consequence of deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme. It presents after about two weeks of birth with prolonged icter, hepatomegaly, lethargy, hypotonia, hypoglycemia, vomiting, cataract, seizure and developmental delay. Without treatment, affected infants often become mental retard. Early diagnosis and early implementation of diet can save the neurological and liver function. We present rare case of galactosaemia with immune deficiency and urinary tract anomaly.Case report:We present years old boy that he is the third children of consanguineous parents with history of galactosaemia in other children of the family. So galactosaemia has been diagnosed for him just after birth and neurological and liver function was saved by early implementation of diet. He had history of recurrent infections like neonatal sepsis, pneumonia, otitis media and upper respiratory tract infections. The circumcision has not done for him because of hypospadias but evaluation for urinary tract anomalies has not been done until one month ago when urinary tract infection (UTI) occured. Due to failure to thrive (FTT) and UTI Sonography and VCUG were requested. Posterior urethral valve was diagnosed based on both kidney hydronephrosis and dilation of both ureters and pelvicalyceal systems. He was admitted because of pyelonephritis before the surgery. Based on lab data during the admission and his past lab data, chronic neutropenia was diagnosed (absolute neutrophyl count less than 500). The patient was treated with intravenous antibiotics and discharged after recovery with prophylactic antibiotics. Genetic study was recommended to find out the mutation which caused immunodeficiency. Discussion and conclusion:E. coli sepsis is common in galactosaemia. However, urinary tract anomaly, recurrent respiratory tract infections and chronic neutropenia are not manifestations of this disease. So this combination can be due to other possible mutations that are responsible for immunodeficiency in this patient. Pay enough attention to the patient history, careful physical examination and in time evaluation of urinary tract anomaly and recurrent respiratory infections could have led to early diagnosis and prevent FTT. This case teaches us that although the metabolic disorder can be cause of FTT in children, other differential diagnosis must be in mind when the patient has atypical presentation.

Galactosaemia, Urinary tract infection, Immunodeficiency