1. [A cause of intracerebral calcifications that should be known: pseudohypoparathyroidism Ib]
- Author
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P, Faissolle, K, Wagner-Mahler, J-C, Mas, M, Moreigne, A, Khalfi, V, Léonetti, M, Silvy, A, Barlier, H, Giudicelli, Service de Pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Interactions cellulaires neuroendocriniennes (ICN), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- Subjects
Male ,musculoskeletal diseases ,MESH: Signal Transduction ,MESH: Hypocalcemia ,MESH: GTP-Binding Proteins ,Adolescent ,MESH: Protein Structure, Quaternary ,MESH: Calcinosis ,MESH: Basal Ganglia Diseases ,Basal Ganglia Diseases ,Seizures ,MESH: Cell Proliferation ,MESH: Intracellular Signaling Peptides and Proteins ,MESH: Receptors, Somatostatin ,Humans ,natural sciences ,[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM] ,MESH: Extracellular Signal-Regulated MAP Kinases ,MESH: Adolescent ,MESH: Humans ,Hypocalcemia ,MESH: Pseudohypoparathyroidism ,Calcinosis ,MESH: Seizures ,MESH: Male ,MESH: Cell Line ,Radiography ,MESH: Dimerization ,Pseudohypoparathyroidism ,MESH: Arrestins - Abstract
International audience; In children, pseudohypoparathyroidism (PHP) is a rare but classical cause of basal ganglia calcifications. It is caused by resistance to parathormone (PTH). Hypocalcemia, which may be symptomatic, is its main feature. We report the case of a 13-year-old boy, affected by type Ib PHP revealed by hypocalcemia and seizures, with basal ganglia calcifications on the CT scan. We describe the characteristics of the 2 main types of PHP and emphasize the search for this disease when basal ganglia calcifications are discovered, even fortuitously, on a cerebral CT scan.
- Published
- 2008