Juvenile Paget's Disease with Paranasal Sinus Aplasia

Abstract

Juvenile Paget's disease (JPD) is a rare skeletal disorder that's characterized by bone demineralization and elevated levels of serum alkaline phosphatase. JPD involves the paranasal sinuses in extremely rare cases. We report here on a 25-month-old Asian male who was diagnosed of JPD associated with aplasia of the paranasal sinuses, but not the ethmoid sinuses. The patient was successfully treated by surgery and we undertook no medical intervention. This appears to be the first reported case of JPD associated with bilateral paranasal sinus aplasia.

Intermediate type of Juvenile Paget's disease: A rare case in Indian population

“…Clinically, JPD is characterized by widespread skeletal involvement in childhood, resulting in progressive deformities such as scoliosis and bowing, short stature, growth retardation, progressive macrocephaly, and facial deformity; mainly maxillary expansion, bone pain, increased risk of pathological fractures, and sensorineural deafness; and sometimes dermal pigmentation. [ 2 3 6 ] Above-mentioned clinical features are in accordance with the present case. Only few case reports have described dental findings such as missing incisors, resorbed or loose teeth, loss of lamina dura, premature exfoliation of deciduous teeth, or delayed eruption of the dentition.…”

“…[236] Above-mentioned clinical features are in accordance with the present case. Only few case reports have described dental findings such as missing incisors, resorbed or loose teeth, loss of lamina dura, premature exfoliation of deciduous teeth, or delayed eruption of the dentition.…”

“…The critical event in JPD is thought to be obstacle in the transformation of coarsely woven bone into mature lamellar bone. [ 2 ] This results in an inherently weak skeleton with the reduction of diaphyseal cortices. [ 6 ]…”

“…[ 1 ] PG is a geriatric disease involving 3%–4% of the population occurring above fifth to sixth decade. [ 2 ] In contrast, Juvenile Paget's disease (JPD) is rare with a few cases reported in literature.…”

Paget disease of bone: A classic case report

“…Juvenile Paget disease or idiopathic hyperphosphatasia is a rare metabolic bone dysplasia that is inherited as an autosomal recessive trait characterized by increased bone turnover secondary to enhanced osteoclastic activity and unrelated to classic PDB, which is seen in the elderly. [3]…”