Children with Albright's hereditary osteodystrophy (AHO) suffering from spinal cord compression are rarely reported worldwide. The association of compressive myelopathy with AHO is not still well known. AHO is a rare heterogeneous group of inherited disorders and results from the GNAS mutation. AHO manifests in two different phenotypes, pseudohypoparathyroidism type Ia (PHP-Ia) and pseudopsedohypoparthyroidim (PPHP), which may happen in the same family members. We present the case of a 15-year-old boy with AHO features, who was later diagnosed with PHP-Ia. He suffered from cervical myelopathy with paraparesis due to spinal stenosis. His mother with AHO phenotype was diagnosed with PPHP without spinal stenosis. Genetic analysis revealed a novel heterozygous nonsense mutation within exon 1 of GNAS(c.49A>T; p.Lys17*) in both of them. This is the first clinically, biochemically, and genetically identified child case of spinal stenosis and paraparesis associated with PHP-Ia, having a novel GNAS mutation in Korea.
Keywords: Albright’s hereditary osteodystrophy; Children; G proteins; Pseudohypoparathyroidism Type Ia; Pseudopseudo-hypoparathyroidism; Spinal stenosis; paraparesis.
© 2015 by the Association of Clinical Scientists, Inc.