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Hyperintensity of posterior pituitary on MR T1WI in a boy with central diabetes insipidus caused by missense mutation of neurophysin II gene.

Abstract
We present a 10-year old boy with central diabetes insipidus (CDI) showing hyperintensity in a normal-sized posterior pituitary on magnetic resonance (MR) T1-weighted image (T1WI). He complained of nocturnal enuresis and polyuria. Daily urine volume increased to 4 to 5 L, and AVP plasma level was very low. Polymerase chain reaction (PCR)-amplified exons of the arginine vasopressin (AVP)-neurophysin (NP) II gene were sequenced. Nucleotide-1884 guanine in Exon 2 was substituted with thymine, which induced a substitution of glycine for valine at amino acid position 65 in the NP II moiety. However, MR imaging showed hyperintensity in the posterior pituitary on T1WI. These results suggest that the MR findings of the posterior pituitary in CDI may vary.
AuthorsT Kubota, T Yamamoto, K Ozono, T Shimotsuji
JournalEndocrine journal (Endocr J) Vol. 48 Issue 4 Pg. 459-63 (Aug 2001) ISSN: 0918-8959 [Print] Japan
PMID11603568 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Neurophysins
  • Guanine
  • Thymine
Topics
  • Child
  • Diabetes Insipidus (diagnosis, genetics, pathology)
  • Guanine
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense
  • Neurophysins (genetics)
  • Pituitary Gland, Posterior (pathology)
  • Polymerase Chain Reaction
  • Polyuria
  • Sequence Analysis, DNA
  • Thirst
  • Thymine

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