Neonatal, severe primary hyperparathyroidism: A 7-year clinical and radiological follow-up of one patient

Pediatric Radiology

Volumn 32, Issue 9, 2002, Pages 684-689

  Doria, Andrea S ^a   Huang, Carol ^a   Makitie, Outi ^a   Thorner, Paul ^a   Kooh, Sang W ^a   Sochett, Etienne ^a   Daneman, Alan ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Autotransplantation; Follow up; Imaging; Neonatal hyperparathyroidism; Primary hyperparathyroidism

Indexed keywords

ARTICLE; AUTOTRANSPLANTATION; BONE DEMINERALIZATION; BONE RADIOGRAPHY; BONE SCINTISCANNING; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; DOPPLER ECHOGRAPHY; FOLLOW UP; HUMAN; HYPERCALCEMIA; LONG TERM CARE; MALE; NEWBORN; NEWBORN DISEASE; PARATHYROID GLAND; PARATHYROID HYPERPLASIA; PARATHYROIDECTOMY; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; THORAX RADIOGRAPHY; TREATMENT OUTCOME; ULTRASOUND;

DIAGNOSTIC IMAGING; HUMANS; HYPERPARATHYROIDISM; INFANT, NEWBORN; MALE; PARATHYROID GLANDS; PARATHYROIDECTOMY; TRANSPLANTATION, AUTOLOGOUS;

EID: 0036935175     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00247-002-0737-0     Document Type: Article

References (17)

1. Pearce S, Steinmann B (1999) Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism. Clin Endocrinol 50:691-693
2. Eftekhari F, Yousefzadeh DK (1982) Primary infantile hyperparathyroidism: clinical, laboratory, and radiographic features in 21 cases. Skel Radiol 8:201-208
3. Lutz P, Kane O, Pfersdorff A, et al (1986) Neonatal primary hyperparathyroidism: total parathyroidectomy with autotransplantation of cryopreserved parathyroid tissue. Acta Pediatr Scand 75:179-182
4. Rhone DP (1975) Primary neonatal hyperparathyroidism. Report of a case and review of the literature. Am J Clin Pathol 64:488-499
5. Goldbloom RB, Gillis DA, Prasad M (1972) Hereditary parathyroid hyperplasia: a surgical emergency of early infancy. Pediatrics 49:514-523
6. Pollak MR, Brown EM, Chou Y-HW, et al (1993) Mutations in the human Ca (2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75:1297-1303
7. Thompson NW, Carpenter LC, Kessler DL, et al RH (1978) Hereditary neonatal hyperparathyroidism. Arch Surg 113:100-103
8. Nguyen VC, Sennott WM, Knox GS (1974) Neonatal hyperparathyroidism. Radiology 112:175-176
9. Grantmyre EB (1973) Roentgenographic features of "primary" hyperparathyroidism in infancy. J Can Assoc Radiol 24:257-260
10. Bradfort WD, Wilson JW, Gaede JT (1973) Primary neonatal hyperparathyroidism - an unusual cause of failure to thrive. Am J Clin Pathol 59:265-275
11. Pearce SHS, Trump D, Wooding C, et al (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692
12. Kobayashi M, Tanaka H, Tsuzuki K, et al (1997) Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. J Clin Endocrinol Metabol 82:2716-2719
13. Hendy GN, D'Souza-Li L, Yang B, et al (2000) Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 16:281-296
14. Silverthorn KG, Houston CS, Duncan BP (1987) Murk Jansen's metaphyseal chondrodysplasia with long-term followup. Pediatr Radiol 17:119-123
15. Pazzaglia UE, Beluffi G, Danesino C, et al (1989) Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of 2 cases. Pediatr Radiol 20:80-84
16. Hillman DA, Scriver CR, Pedvis S, et al (1964) Neonatal familial primary hyperparathyroidism. N Engl J Med 270:483-490
17. Blair JW, Carachi R (1991) Neonatal primary hyperparathyroidism - a case report and review of the literature. Eur J Pediatr Surg 1:110-114