Neuropsychiatric phenotype in a child with pseudohypoparathyroidism

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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

Fingerprint

Pseudohypoparathyroidism
Tics
Dyskinesias
Phenotype
Hypoparathyroidism
Inborn Genetic Diseases
Calcitriol
Nervous System Diseases
Parathyroid Hormone
Psychiatry
Calcium
Therapeutics

Keywords

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

ASJC Scopus subject areas

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

Cite this

Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. / Visconti, Paola; Posar, Annio; Scaduto, Maria; Russo, Angelo; Tamburrino, Federica; Mazzanti, Laura.

In: Journal of Pediatric Neurosciences, Vol. 11, No. 3, 01.07.2016, p. 267-270.

Research output: Contribution to journalArticle

Visconti, Paola ; Posar, Annio ; Scaduto, Maria ; Russo, Angelo ; Tamburrino, Federica ; Mazzanti, Laura. / Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. In: Journal of Pediatric Neurosciences. 2016 ; Vol. 11, No. 3. pp. 267-270.
@article{330025dc64424899856df24f3f026531,
title = "Neuropsychiatric phenotype in a child with pseudohypoparathyroidism",
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..",
keywords = "Behavior, Chiari type 1 anomaly, childhood, dyskinesias, pseudohypoparathyroidism type 1b",
author = "Paola Visconti and Annio Posar and Maria Scaduto and Angelo Russo and Federica Tamburrino and Laura Mazzanti",
year = "2016",
month = "7",
day = "1",
doi = "10.4103/1817-1745.193373",
language = "English",
volume = "11",
pages = "267--270",
journal = "Journal of Pediatric Neurosciences",
issn = "1817-1745",
publisher = "Medknow Publications and Media Pvt. Ltd",
number = "3",

}

TY - JOUR

T1 - Neuropsychiatric phenotype in a child with pseudohypoparathyroidism

AU - Visconti, Paola

AU - Posar, Annio

AU - Scaduto, Maria

AU - Russo, Angelo

AU - Tamburrino, Federica

AU - Mazzanti, Laura

PY - 2016/7/1

Y1 - 2016/7/1

N2 - 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..

AB - 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..

KW - Behavior

KW - Chiari type 1 anomaly

KW - childhood

KW - dyskinesias

KW - pseudohypoparathyroidism type 1b

UR - http://www.scopus.com/inward/record.url?scp=84995803039&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84995803039&partnerID=8YFLogxK

U2 - 10.4103/1817-1745.193373

DO - 10.4103/1817-1745.193373

M3 - Article

AN - SCOPUS:84995803039

VL - 11

SP - 267

EP - 270

JO - Journal of Pediatric Neurosciences

JF - Journal of Pediatric Neurosciences

SN - 1817-1745

IS - 3

ER -