M. Kawai et al., LIVER-TRANSPLANTATION IN A CASE OF HYPOPROTEINEMIA AND COAGULOPATHY, Acta Paediatrica Japonica Overseas Edition, 40(1), 1998, pp. 96-98
A female infant with hypoproteinemia and coagulopathy associated with
hypertyrosinemia was successfully treated with living-related liver tr
ansplantation (LRLT). On the 12th day of life plasma amino acid analys
is revealed a marked elevation of tyrosine, so the patient was fed on
a low-tyrosine and low-phenylalanine diet. However, hepatosplenomegaly
, hypotonia, alopecia, eczema and psychomotor delay did not improve an
d recurrent episodes of disseminated intravascular coagulation (DIC) c
aused her condition to deteriorate. Liver biopsy on the 230th day reve
aled marked fatty change accompanied by mild to moderate cholestasis.
Therefore, LRLT from her father was performed on the 286th day resulti
ng in improvement of all the aforementioned signs and symptoms. Despit
e a thorough examination, no diagnosis of a known disorder could be es
tablished. However, her elder brother had also been born with severe h
ypoproteinemia and coagulopathy, and died of DIC on the second day of
life. Thus, the disorder is designated as a new entity, namely 'congen
ital hypoproteinemia and coagulopathy associated with hypertyrosinemia
'.