| CASE REPORT |
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| Year : 2016 | Volume
: 11
| Issue : 3 | Page : 267-270 |
Neuropsychiatric phenotype in a child with pseudohypoparathyroidism
Paola Visconti1, Annio Posar2, Maria Cristina Scaduto1, Angelo Russo1, Federica Tamburrino3, Laura Mazzanti3
1 Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy
2 Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
3 Department of Pediatrics, Pediatric Endocrinology and Rare Diseases Unit, S. Orsola-Malpighi University Hospital, University of Bologna, Bologna, Italy
Correspondence Address:
Annio Posar
Department of Biomedical and Neuromotor Sciences, Child Neurology and Psychiatry Unit, IRCCS Institute of Neurological Sciences of Bologna, University of Bologna, Via Altura 3, 40139 Bologna
Italy
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1817-1745.193373
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.
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