Neuropsychiatric phenotype in a child with pseudohypoparathyroidism

Paola Visconti, Annio Posar, Maria Scaduto, Angelo Russo, Federica Tamburrino, Laura Mazzanti

Research output: Contribution to journalArticle

Abstract

Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general and with PHP in particular, while for childhood, data are scanty. We report a case of a boy with PHP type 1b, in whom neurological signs at the onset prevailed, characterized by tic-like dyskinesias associated with a series of heterogeneous not well-defined neurological and behavioral features, describing the diagnostic work-up performed and the follow-up. We suggest that the diagnostic hypothesis of PHP might be considered when dealing with a child with tic-like dyskinesias, especially if associated with a series of heterogeneous not well-defined neurological and behavioral features. In these cases, treatment with calcitriol and calcium has to be started as soon as possible to achieve a prompt and persistent clinical improvement..

Original languageEnglish
Pages (from-to)267-270
Number of pages4
JournalJournal of Pediatric Neurosciences
Volume11
Issue number3
DOIs
Publication statusPublished - Jul 1 2016

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Keywords

  • Behavior
  • Chiari type 1 anomaly
  • childhood
  • dyskinesias
  • pseudohypoparathyroidism type 1b

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neuroscience(all)

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