Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years.
The authors describe a patient with infantile form of hypophosphatasia who has presented a favourable course and is surviving at the age of 2 years, whereas usually the subjects affected by this disease show an unfavourable prognosis with death within the first 18 months of life. From the age of 5 to 10 months, the patient has been treated with weekly fresh plasma transfusions, with the purpose to supply the deficient enzyme. During treatment a progressive improvement of the clinical and radiological signs was observed. The authors hope that the study of other patients affected by this disease and treated with fresh plasma transfusions, might confirm the effectiveness of this substitutive therapy.
D001803:Blood Transfusion; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy*; D007223:Infant; D010375:Pedigree; D011859:Radiography