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.
authors.affiliation: Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Visconti
authors.affiliation: Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Annio
authors.initials: A
authors.lastname: Posar
authors.affiliation: Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Scaduto
authors.affiliation: Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Russo
authors.affiliation: Department of Pediatrics, Pediatric Endocrinology and Rare Diseases Unit, S. Orsola-Malpighi University Hospital, University of Bologna, Bologna, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Tamburrino
authors.affiliation: Department of Pediatrics, Pediatric Endocrinology and Rare Diseases Unit, S. Orsola-Malpighi University Hospital, University of Bologna, Bologna, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Mazzanti
keywords: Behavior; Chiari type 1 anomaly; childhood; dyskinesias; pseudohypoparathyroidism type 1b