Association of fungal sepsis and galactosemia.

Galactosemia is one of the rare inborn errors of metabolism, which if detected early can be treated effectively. Galactosemic infants have a significant increased risk of developing sepsis. E. coli sepsis is a known entity, and also an important cause of early mortality in these children. But fungal sepsis in these patients is rarely reported. Here is a case of 45 day-old child who presented with fungal sepsis, which on investigation turned out to be galactosemia.

Galactosaemia - presentation, diagnosis and management

Galactosaemia is a rare autosomal recessive metabolic disorder. It presents in early life with hypoglycaemia and encephalopathy or progressive jaundice followed by liver failure. Cataract may be visible on naked eye examination. Diagnosis is highly suggested by detecting reducing substances in urine without glycosuria in an infant with hepatic dysfunction. Dietary therapy by elimination of galactose is the mainstay of treatment. The outcome for treated galactosaemia is not yet optimal. This paper reports the experience of presentation, diagnosing and management of galactosaemia at The Childrens Hospital and the Institute of Child Health, Lahore. This paper presents a prospective, observational study from January 1999 to April, 2004. Diagnosis was made on the criteria including [a] clinical presentation of a neonate with hepatic dysfunction, [b] strongly positive urine reducing substances with the absence of glycosuria as determined by negative Clinistix test and [c] rapid clinical improvement on elimination of galactose from the diet of infants. Diagnosis of galactosaemia was made in 18 infants over the study period. Their age at presentation ranged from 35 days - 9 months [median 10 weeks]. There were 12 males and 6 females [M/F ratio 2:1]. Most common mode of presentation was fulminant hepatic failure [FHF]. Cataract was present in the majority of patients. Laboratory values showed raised bilirubin and universal coagulopathy. Fourteen patients responded to galactose elimination and showed initial dramatic improvement in clinical and lab parameters. Four patients [22%] died. Galactosemia is not uncommon in our community; diagnosis needs to be suspected in sick neonates and infants with severe hepatic dysfunction. Early galactose elimination from diet leads to dramatic clinical improvement

Galactosemia: presentación de un caso clínico, revisión y actualización / Galactosemia: report of a clinical case, review and updating

Presentamos un caso de galactosemia en un recién nacido de pretérmino, treinta y seis semanas de edad gestacional por examen físico, que a partir del tercer día de vida comienza con sintomatología (Ictericia), recibiendo alimentación desde su ingreso con fórmula de inicio y posteriormente al pecho; hasta el 6§ día de vida que debe ser ingresado en UTI en delicado estado clínico. Realizado el diagnóstico tras completar los estudios, con indicación de fórmula libre de lactosa egresa del hospital a los 33 días de vida, continuando su seguimiento por consultorio externo de clínica pediátrica y seguimiento de especialistas en metabolopatías.

Síndrome tóxico por galactosa: (un caso clínico) / Galactosa toxic syndrome: (a clinical case)

Se presenta el caso de una lactante de dos meses afectada de galactosemia con ictericia desde el sexto día de vida y posteriormente hepatomegalia, cataratas, déficit pondoestatural y retardo psicomotor. La biopsia hepatica orientaba hacia el diagnóstico el cual fue confirmado mediante la determinación de la actividad enzimática de la galactosa-1-fosfato uridiltransferasa en glóbulos rojos. Se hace una revisión de la patogenia, clínica, diagnóstico y tratamiento de la enfermedad