In a group of 5 patients it was found that the presence of succinylacetone in urine as well as increased urinary excretion of delta-aminolaevulinic acid are a good criterion for the diagnosis of type I tyrosinaemia, and may serve for monitoring of the effectiveness of treatment with low-tyrosine diet. Determination of tyrosine levels in blood and urine by the semiquantitative method may be deceptive.

Amino Acid Metabolism, Inborn Errors↗

PubMedDate not supplied

[Two cases of epileptiform attacks due to hypocalcemia in a child with hypoparathyroidism].

Two cases are described of epileptiform convulsive seizures and consciousness disturbances in girls. The diagnosis of hypocalcaemia due to hypoparathyroidism was considerably delayed, and was made only when irreversible brain damage developed. The pathological mechanism, principles of diagnosis and treatment of hypoparathyroidism are discussed.

Adolescent↗

PubMedDate not supplied

[Role of the parathyroid glands in the pathogenesis of intracerebral calcifications].

Investigations of calcium-phosphate metabolism were carried out in a group of 11 children and adults with intracerebral calcifications. It was possible to isolate three different pathogenetic types of calcifications in the striatum and dentate nuclei in the cerebellum. The authors suggest restriction of the term "Fahr's syndrome" to cases without true of false hypoparathyroidism. The assessment of the calcium-phosphate metabolism, and particularly, the test with parathyroid hormone, seem to be an indispensable element in the differential diagnosis of this type of intracerebral calcifications.

Adolescent↗

PubMedDate not supplied

[Varix of the pulmonary vein].

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Adult↗

PubMedDate not supplied

[Kawasaki syndrome--lymphadenopathy with skin and mucous membrane lesions].

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Child, Preschool↗