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this disease is relatively common in older people , and it occurs in approximately 3 - 4% of the population aged over 50 yr . in contrast , juvenile paget 's disease ( jpd ) is rare , with fewer than 30 reported cases according to our literature search .
jpd is a metabolic bone disease that presents during the first 2 yr of life as generalized skeletal deformities associated with elevated serum alkaline phosphatase activity of a bony origin ( 1 ) .
the term " jpd " was first used to describe an unusual bone disease in an 11-yr - old boy ( 1 ) .
other terms for this disease include fragile bones and macrocranium , hyperostosis corticalis deformans juvenile , chronic idiopathic hyperphosphatasia , chronic progressive osteopathy with hyperphosphatasia , osteochalasia desmalis familiaris , familial osteoectasia , hereditary hyperphosphatasia , and congenital hyperphosphatasia ( 2 ) . while the disease process is usually polyostotic and it can affect any bone in the body , sinus aplasia has not previously been associated with jpd .
the present article describes a case of 25-month - old korean male with jpd associated with paranasal sinus aplasia .
a 25-month - old korean male was hospitalized for the evaluation and treatment of nasal stuffness .
the patient was tall for his age ( 95.2 cm , 97th percentile , he weighed 17.5 kg ( 97th percentile ) and had a disproportionately large head ( 52 cm head circumference ) . the patient had marked facial deformities including a large forehead , prominence of both cheek bones and leontiasis features cause by maxillary enlargement .
the nasal endoscopic findings showed obstruction of the nasal cavity due to hypertrophy of both inferior turbinates ( fig .
both tonsils were enlarged ( grade ii ) and adenoid hypertrophy ( grade iii ) was observed on the skull lateral view .
the laboratory tests showed a highly elevated serum alkaline phosphatase concentration of 1,082 iu / l ( normal range : 50 - 150 iu / l ) , and a total hydroxyproline urinary excretion rate of 330 mmol/24 hr , which was slightly above normal .
plain radiographs of the skull showed thickening and sclerotic changes in the facial bone and skull vault , and unformed obliterate paranasal sinuses ( fig .
the lower extremities revealed slight anterior bowing of the femora , reduced mineralization , loss of normal trabeculation , and coarse strand - like bone trabeculation .
ct scans of the skull showed thickening of the facial bone and skull vault , and non - development of the paranasal sinuses , while the ethmoid sinuses appeared normal .
there were thickening of the nasal septum and both inferior conchae , resulting in narrowing of the nasal cavities on ct scans ( fig .
bone scans revealed increased radiotracer uptake in the facial bones and skull base , and this suggested a high rate of bone turnover ( fig .
1d ) . to relieve the nasal symptoms , the patient underwent two surgical procedures : a submucosal partial inferior turbinectomy and an adenotonsillectomy .
histological examination of the inferior nasal concha showed an extremely thin cortex and an abnormal spongiosa .
there wers increased cellularity with irregularly arranged cement lines , loose fibrovascular tissue within the intertrabecular space .
the trabeculae were lined with active osteoblasts and osteoclasts , numerous osteoclasts , and an increase in osteoblastic bone formation .
the nasal stuffiness has improved , there have been no additional symptoms , and no further or ongoing treatment has been required .
swoboda coined the term jpd in 1958 to emphasize the similarities between congenital hyperphosphatasia and paget 's bone disease ( 3 ) .
both disorders are characterized by bowing of the extremities , increased serum alkaline phosphatase activity of a boney origin , elevated urinary hydroxyproline levels and abnormal cortical remodeling of highly vascularized bone ( 3 ) .
jpd is a bone modeling disorder , and the basic pathology is believed to be due to a blockage in the transformation of coarsely woven bone into mature lamellar bone ( 4 ) .
the increased serum alkaline phosphatase activity is a reflection of increased bone turnover , and excessive bone turnover is responsible for the decreased levels of mature lamellar bone ( 4 ) .
the clinical findings of patients with jpd are increased bone fragility , bowing deformities , a large head , premature loss of teeth , kyphosis , scoliosis , and progressive loss of muscular power with delayed and clumsy walking or failure to walk ( 5 , 6 ) . in the present case ,
the paranasal sinuses were obliterated , resulting in obstruction of the upper air passages and leontiasistic deformity of the facial bones .
radiographic analysis of patients with jpd shows skeletal bone changes , including widened skull bones , generalized demineralization , expanded osteoporotic long bones with coarse trabeculation and short tubular bones ( 5 , 6 ) .
the present patient had complete aplasia of the maxillary , frontal and sphenoid sinuses , and such paranasal sinus aplasia has not previously been associated with jpd .
the laboratory findings for the present patient were consistent with those of the previous reports , including elevated serum alkaline phosphatase , acid phosphatase activity and urinary peptide - bound hydroxyproline ( 2 ) .
the elevated peptide - bound hydroxyproline excretion was consistent with the elevated levels of alkaline and acid phosphatase in the blood , and this was evidence of rapid bone matrix turnover ( 6 ) .
the histological findings of jpd include intensive metaplastic fibrous bone formation and increased osteoblast and osteoclast activity ( 5 ) . in the current case ,
the bone biopsy findings were similar to the previously reported findings , and they confirmed the patient 's increased bone turnover .
the administration of calcitonin for jpd can slow the disease progression by promoting normal bone formation , resulting in an enhanced quality of life ( 2 , 4 , 5 , 8) .
furthermore , calcitonin is reported to not only arrest the disease progress , but it can also reverse the long bone abnormalities in terms of external dimensions and shape ( 8) . treatment with diphosphonate ( pamidronate ) may be equally effective ( 9 - 11 ) .
while jpd generally requires medical treatment , such a strategy was not applied in the present case due to a lack of general symptoms .
the patient underwent a submucosal partial inferior turbinectomy and an adenotonsillectomy , and then the patient 's nasal stuffness improved . continued observation of the patient did not provide any evidence of disease progression or complications .
the present report is the first to describe a case of jpd associated with paranasal sinus aplasia , and the patients nasal symptom was successfully treated with surgery .
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 .