Abstract
A newborn with a CNS midline defect and persistent hyponatremia was diagnosed with a "reset" osmostat using a 3% hypertonic saline test. The diagnosis was established by measuring urinary arginine vasopressin (UAVP) and plasma osmolality (P(Osmoil)). In this infant a chromosome abnormality with the karyotype 46, X, -X, +der(X) t(X;13) (p22.1;q22) was associated with the midline defect and a reset osmostat.
MeSH terms
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Arginine Vasopressin / metabolism*
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Arginine Vasopressin / urine
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Blood / metabolism
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Chromosomes, Human, Pair 13 / genetics
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Female
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Humans
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Hyponatremia / diagnosis
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Hyponatremia / etiology*
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Hyponatremia / genetics
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Infant, Newborn
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Karyotyping
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Osmolar Concentration
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Saline Solution, Hypertonic
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X Chromosome / genetics
Substances
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Saline Solution, Hypertonic
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Arginine Vasopressin