Galactosaemia with fatal cerebral oedema.
Galactosaemia with fatal cerebral oedema.
复制标题
半乳糖血症伴有致命性脑水肿。
DOI：
10.1007/bf01802050
复制
发表时间：
1989
影响因子：
4.2
通讯作者：
McCabe,ER
中科院分区：
文献类型：
--
作者：
Perelmuter,B;Goodman,SI;McCabe,ER
Galacmsaemia due to galactose-l-phosphate uridyltransferase deficiency (McKusick 23040) is associated, in the untreated patient, with gastrointestinal symptoms, hepatomegaly, hepatic dysfunction, cataracts, septicaemia and, eventually, mental retardation. Neonates with classical galactosaemia may also present with increased intracranial pressure, which is reported to resolve on a galactose-free diet (Huttenlocher et al., 1970; Belman et al., 1986). We describe a newborn with galactosaemia who died at 19 days of age with cerebral oedema unresponsive to medical management.This 3340g female was born to a GI P1 mother after uneventful pregnancy, labour and delivery. She was fed Similac. On the third day of life her total bitirubin was 13.4 mg/dl and phototherapy was started. Total bilirubin rose to 17mg/dl on the seventh day of life. Evaluation revealed a haematocrit of 54% with mother's blood type'B+, baby's blood type O+, and direct Coombs test negative. On the tenth day of life she was lethargic and fed poorly. After a sepsis workup, antibiotics were started. On the llth day of life she developed seizures and was treated with iv valium and phenobarbital. Shortly after receiving the phenobarbital, she had a respiratory arrest which responded immediately to mechanical ventilation. Hepatomegaly was noted and urine revealed positive reducing substances. Oral feeding was stopped and she was transferred to Denver's Children's Hospital on the 12th day of age where she was flaccid without spontaneous movements or respiration. Pupils were unreactive, and deep tendon reflexes were absent. Cataracts were not observed. Total bilirubin was 14.4 mg/dl, conjugated bilirubin 2.2 mg/dl. Total protein was 2.0 mg/dl and ammonia 185 mg/dl. AST and ALT were slightly elevated. Cultures of blood, urine and cerebrospinal fluid were repeated, and were negative, as at the previous hospital.
