A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report

Background Pseudohypoparathyroidism is a rare genetic disease characterized by hypocalcaemia and hyperphosphataemia due to the defect to the guanine nucleotide-binding protein alpha subunit (GNAS) gene. Patients with pseudoparathyroidism type 1a and 1c could manifest Albright’s hereditary osteodystrophy and multiple hormone resistance including gonadotropin and thyroid stimulating hormone. Case presentation Here we report a Chinese man who presented with fatigue, recurrent seizure and Albright’s hereditary osteodystrophy. His genetic study revealed a heterozygote mutation in the GNAS gene [NM_000516.4(GNAS): c2787_2788del (p.Val930AspfsTer12)]. After calcium and calcitriol supplement, his seizures achieved partially remission. Conclusions We report a case of PHP1a or 1c with a novel frameshift mutation in GNAS gene in a patient presenting with AHO, as well as TSH and partial gonadotropin resistance. This mutation in this case has not been reported in literature and adds to the spectrum of genetic mutations related to PHP.

Prosthetic rehabilitation of a child affected with Albright’s hereditary osteodystrophy: a case report

<p>Albright’s hereditary osteodystrophy is a rare metabolic disease resulting from an inability of the kidneys and bones to respond appropriately to circulating parathyroid hormone (PTH), the principal regulator of calcium and phosphorous levels in the body. The deranged parathyroid hormone levels along with the disturbed metabolism of calcium and phosphorous significantly affects the development and calcification of the dental hard tissues along with the bone matrix. Oral manifestations include multiple impacted and aplastic teeth, tooth hypoplasias, small crowns with blunt roots, thin enamel with large pulp chambers, malocclusion and premature loss of teeth resulting from caries. The present case report highlights the essential dental findings of the child affected with Albright’s osteodystrophy along with highlighting the complete rehabilitation of the case using a combination of maxillary overdenture and mandibular partial prosthesis.</p>