We describe thoracic spinal stenosis with progressive myelopathy in association with Albright hereditary osteodystrophy (AHO) in a 12-year-old child with delayed diagnosis and review the relevant literature in order to identify the pathophysiological mechanism. The child was successfully treated by decompressive upper thoracic laminoplasty with full neurological recovery. The pathological changes of the skin also dissolved. Ten more cases of myelopathy and paraparesis in association with AHO, of whom two were children, could be found in the literature. Basically, two different causes for the spinal canal stenosis could be identified: abnormal ossifications of ligaments and congenital narrow spinal canal due to short vertebral pedicles. Awareness of structural spinal column changes in AHO is essential in order to appreciate the neurological symptoms of a beginning myelopathy before irreversible damage to the myelum occurs.

Keywords:
Albright hereditary osteodystrophy, Spinal stenosis, Pseudohypoparathyroidism, Paraparesis, Myelopathy, Pseudopseudohypoparathyroidism
1.
Albright F, Burnett CH, Smith PH, Parson W: Pseudohypoparathyroidism – an example of ‘Seabright-Bantam syndrome’: report of three cases. Endocrinology 1942;30:922–932.
2.
Fitch N: Albright’s hereditary osteodystrophy: a review. Am J Med Genet 1982;11:11–29.
3.
Kinard RE, Walton JE, Buckwalter JA: Pseudohypoparathyroidism: report on a family with four affected sisters. Arch Intern Med 1979;139:204–207.
4.
Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA: Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright’s hereditary osteodystrophy. N Engl J Med 1990;322:1412–1419.
5.
Mantovani G, Spada A: Mutations in the Gs alpha gene causing hormone resistance. Best Pract Res Clin Endocrinol Metab 2006;20:501–513.
6.
Doty RL, Fernandez AD, Levine MA, Moses A, McKeown DA: Olfactory dysfunction in type I pseudohypoparathyroidism: dissociation from Gs alpha protein deficiency. J Clin Endocrinol Metab 1997;82:247–250.
7.
Illum F, Dupont E: Prevalences of CT-detected calcification in the basal ganglia in idiopathic hypoparathyroidism and pseudohypoparathyroidism. Neuroradiology 1985;27:32–37.
8.
Villarreal-Nunez F, Adames-Quintero AE, Noriega L: Late onset epilepsy as the first symptom of pseudohypoparathyroidism (in Spanish). Rev Neurol 2005;41:155–158.
9.
Kanda T, Nagashima T, Oda M, Hirose K, Tanabe H: Pseudopseudohypoparathyroidism with recurrent polyneuropathy: an autopsy report with special reference to the peripheral nervous system. J Neurol Sci 1991;103:42–47.
10.
Oyama H, Kida Y, Tanaka T, Iwakoshi T, Niwa M, Kitamura R, Kobayashi T: Hemifacial spasm in Albright’s hereditary osteodystrophy with pseudopseudohypoparathyroidism and nephrogenic diabetes insipidus – case report. Neurol Med Chir (Tokyo) 1995;35:380–384.
11.
Kutilek S, Kabicek P, Nedvidkova J, Bayer M: Pseudohypoparathyroidism type IA and II with severe neuropsychic manifestations. Turk J Pediatr 2001;43:70–75.
12.
Scheinfeld NS: Obesity and dermatology. Clin Dermatol 2004;22:303–309.
13.
Sinha S, Schwartz RA: Juvenile acanthosis nigricans. J Am Acad Dermatol 2007;57:502–508.
14.
Chen H, Tseng F, Su D, Chen H, Tsai K: Multiple intracranial calcifications and spinal compressions: rare complications of type la pseudohypoparathyroidism. J Endocrinol Invest 2005;28:646–650.
15.
Cullen DR, Pearce JM: Spinal cord compression in pseudohypoparathyroidism. J Neurol Neurosurg Psychiatry 1964;27:459–462.
16.
Firooznia H, Golimbu C, Rafii M: Case report 312. Diagnosis: progressive paraparesis in a woman with pseudohypoparathyroidism (PHP) with ossification of the posterior longitudinal ligament from C4 to T5. Skeletal Radiol 1985;13:310–313.
17.
Goadsby PJ, Lollin Y, Kocen RS: Pseudopseudohypoparathyroidism and spinal cord compression. J Neurol Neurosurg Psychiatry 1991;54:929–931.
18.
Iwase T, Nokura K, Mizuno T, Inagaki T: Spastic tetraparesis in a patient with pseudopseudohypoparathyroidism. J Neurol 2002;249:1457–1458.
19.
Van Dop C, Wang H, Mulaikal RM, Tolo VT, Rosenbaum AE: Pseudopseudohypoparathyroidism with spinal cord compression. Pediatr Radiol 1988;18:429–431.
20.
Yamamoto Y, Noto Y, Saito M, Ichizen H, Kida H: Spinal cord compression by heterotopic ossification associated with pseudohypoparathyroidism. J Int Med Res 1997;25:364–368.
21.
Okazaki T, Takuwa Y, Yamamoto M, Matsumoto T, Igarashi T, Kurokawa T, Ogata E: Ossification of the paravertebral ligaments: a frequent complication of hypoparathyroidism. Metabolism 1984;33:710–713.
22.
Cavallo A, Meyer WJ III, Bodensteiner JB, Chesson AL: Spinal cord compression: an unusual manifestation of pseudohypoparathyroidism. Am J Dis Child 1980;134:706–707.
23.
Greco R, Sagratella S, Landucci C, Canova A: Paraplegia due to spondylogenic myelopathy in a patient with Albright’s osteodystrophy type II or pseudopseudohypoparathyroidism (in Italian). Riv Neurobiol 1978;24:243–254.
24.
Okada K, Iida K, Sakusabe N, Saitoh H, Abe E, Sato K: Pseudohypoparathyroidism-associated spinal stenosis. Spine 1994;19:1186–1189.
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2008
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