Purpose or Case Report: Report the case of a 9-year-old girl with special education needs, who consults for neuro-cognitive symptoms, short stature, brachydactyly and obesity. The diagnosis was made on the basis of pathognomonic imaging findings and laboratory tests showing hypocalcemia, hyperphosphatemia and increased serum parathyroid hormone (PTH) levels.
Due to the hereditary nature of this rare disease, it is important to say that her mother has a similar phenotype.
Pseudohypoparathyroidism 1A it is a rare disease, an autosomal dominant familial metabolic disorder with a variable imprinting pattern and inheritance. Results from a specific deficiency of a subunit of stimulatory G protein, manifested by resistance to parathormone and a characteristic phenotype, referred to as Albright hereditary osteodystrophy (AHO).
Methods & Materials: A 9-year-old female patient is presented with global developmental delay and Albright's hereditary osteodystrophy phenotype, laboratory alterations in phospho-calcium metabolism, and characteristic radiological findings. The patient has a compatible maternal history confirming the imprinting pattern for the diagnosis of pseudohypoparathyroidism type 1A
Results: A 9-year-old girl with global developmental delay, with Albright's hereditary osteodystrophy phenotype (central obesity, short stature, round face, small palms, brachydactyly and unstable gait), laboratory with decreased serum calcium with increased serum phosphorus and serum PTH levels, with failure to respond to exogenously administered PTH.
Radiological findings: short and wide metacarpals and metatarsals, bilaterally and symmetrically, with calcium deposits in the subcutaneous cellular tissue of the left foot. On brain tomography, extensive hyperdense areas with ill-defined borders with calcium density, bilateral and partly symmetrical in distribution, at the level of the basal ganglia and frontal subcortical regions.
The patient has a mother with hypothyroidism, scoliosis, short metacarpals in both hands, short stature and intellectual deficit.
All these findings suggest the diagnosis of pseudohypoparathyroidism type 1A
Conclusions: The highlight of this case is the characteristic findings of this rare hereditary genetic disorder with an improntal pattern, which must be considered by pediatricians and radiologists, for appropriate and timely management of alterations in phosphocalcium metabolism