Dysspondyloenchondromatosis in the newborn. Report of four cases.

Dysspondyloenchondromatosis is a rare form of generalised enchondromatosis with hypoplastic/dysplastic changes in the lower thoracic and upper lumbar spine. The disease presents at birth as neonatal dwarfism and is characterised later in life by marked shortening of stature, unequal length of the extremities and early development of kyphoscoliosis. We report four newborn babies--three boys and a girl--with dysspondyloenchondromatosis, who had skeletal survey performed shortly after birth. The condition can be established in the newborn, as the radiographic examination (skeletal survey) shows diagnostic radiographic findings.

Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

We diagnosed the carbohydrate-deficient glycoprotein syndrome in five children who were seen during their first year of life with failure to thrive, feeding difficulties, psychomotor retardation, hypotonia, esotropia, inverted nipples, lipodystrophy, pericardial effusion, and hepatic dysfunction. Steatosis was observed in liver biopsy specimens, and cerebellar hypoplasia was present on computed tomography. The disorder is characterized by a complex carbohydrate deficiency in certain glycoproteins, notably transferrin, which can be used as a marker of the disease. The carbohydrate-deficient glycoprotein syndrome may be an important and easily identifiable cause of failure to thrive and neurologic dysfunction in infancy. The presence of the disorder in siblings of different gender and the finding of biochemical abnormalities in some unaffected parents suggest an autosomal recessive inheritance.

A metal ion-binding site in the kringle region of bovine prothrombin fragment 1.

45Ca(II) binding studies (equilibrium dialysis) on the kringle domain of bovine prothrombin fragment 1 were conducted using a mixture of peptides (residues 43-156 and 46-156) resulting from limited alpha-chymotryptic hydrolysis of fragment 1. Analysis of the Scatchard plot of these data indicates a single, low affinity Ca(II)-binding site to be present. Similar results were obtained from studies on the decarboxylated fragment 1 derivative, 10-gamma-MGlu-fragment 1. Acetylation of bovine fragment 1 in the absence of Ca(II) or Mg(II) ions results in the loss of the metal ion-promoted quenching of the intrinsic Trp fluorescence of the protein and the Ca(II)-mediated binding to phosphatidylserine/phosphatidylcholine (PS/PC) vesicles. The acetylation of the NH2 alpha-group of Ala-1 has been shown (Welsch, D. J., and Nelsestuen, G. L. (1988) Biochemistry 27, 4946-4952) to abolish the PS/PC binding property of fragment 1. The present study demonstrates that acetylation of a second site possibly Ser-79 or Thr-81 using the conditions described in the preceding paper results in loss of both the fluorescence transition and the Ca(II)-mediated PS/PC binding of the resulting protein derivative. Removal of the O-acetyl group at the Ser-79/Thr-81 site is accomplished by aminolysis with 0.2 M hydroxylamine, pH 10, 50 degrees C; the fluorescence transition is partially restored. PS/PC binding is partially restored if the NH2 alpha-group of Ala-1 is trinitrophenylated but is not restored if the NH2 alpha-group of Ala-1 is acetylated. We conclude that the Ser-79/Thr-81 site may represent a portion of the metal ion-binding site within the kringle domain of fragment 1. Occupancy of this site by a Ca(II) ion appears to be important in the binding of the protein to PS/PC vesicles.

A prospective study on the incidence and significance of congenital cytomegalovirus infection.

Screening of 3060 neonates for congenital cytomegalovirus (CMV) infection by virus excretion in the urine showed an overall incidence of 0.4%. The incidence was about 1% for mothers between 16 and 25 years and only 0.2% for mothers between 25 and 35. No mothers over 35 years of age gave birth to congenitally infected infants. The percentage of women in the child-bearing age susceptible to CMV infection was estimated by the absence of CMV complement-fixing antibodies in cord sera and ranged from 48% to 33% with increasing age. None of the infected infants showed obvious signs of congenital CMV infection at birth. At follow-up, two infants showed slight, but transient symptoms compatible with a foetal infection; a pair of premature twins exhibited retarded physical and psychomotor development, but this could just as well be ascribed to the prematurity itself. None of the infants had detectable CMV--IgM antibodies in cord sera, but a trend towards elevated total IgM concentration in cord sera and elevated virus excretion titres appeared in the infants with symptoms. With the very low incidence and no signs of sensomotor sequelae the preliminary conclusion is that foetal CMV infection in our population by no means has a significance to deserve screening or a vaccination programme.

Sinus histiocytosis with massive lymphadenopathy.

The present case report brings to attention an unusual form of massive benign lymphadenopathy which can stimulate malignant lymphoma. The disease occurs mainly in children and is characterized by a protracted course with painless enlargement of the cervical lymph nodes, fever, leucocytosis, mild anaemia, raised erythrocyte sedimentation rate and hypergammaglobulinaemia. The diagnosis is confirmed by a quite distinct microscopic picture of the involved lymph nodes. SHML is considered to be an unusual response to an infection in an individual with abnormal host defence, though this is not confirmed by the investigations undertaken in the presented case.

Unstable-haemoglobin haemolytic anaemia.

A 6-year-old girl suffering from chronic haemolytic anaemia with crisis induced by drugs and infections is described. The disorder was diagnosed as an unstable-haemoglobin haemolytic anaemia. The heat stability test, simple and specific for unstable haemoglobins is mentioned, it should be done in every child suffering from unexplained chronic haemolytic anaemia. The haemoglobin variant is also known in a patient in Brazil as Hb Niteroi.