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chondrocalcinosis/seizures
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4 results
Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene.
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We describe the pattern of early childhood seizures within a family with autosomal dominant chondrocalcinosis (CCAL, which causes adult-onset arthritis). All affected family members with CCAL experienced seizures in early childhood, usually, but not always, associated with fever. Similarities exist
Hypomagnesemia due to renal disease of unknown etiology.
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A young man, investigated because of tetanic convulsions and arthritic pains, was shown to have hypomagnesemia, hypermagnesuria, hypokalemia, hypercalciuria, progressive nephrocalcinosis and chondrocalcinosis. In this syndrome, renal function was normal except for the abnormal excretion of
Calcium crystals and cartilage damage.
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Recent advances in understanding the pathogenesis and mechanisms whereby calcium crystals contribute to cartilage damage are highlighted in this review. Studies that help elucidate pathologic crystal formation in cartilage are discussed. The effect of calcium pyrophosphate dihydrate crystals on the
Behandlung der Hypophosphatasie.
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Hypophosphatasia (HPP) is a rare disorder with perinatal, infantile, childhood, and adult presentations. Severe forms are autosomal recessive with an early onset, whereas milder forms have a later onset. The underlying cause of the disease is a mutation based on a genetic disorder of the tissue
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