UNIQUE PRESENTATION OF OSTEOPETROSIS.
Osteopetrosis is a rare hereditary disorder of osteoclast dysfunction leading to abnormally dense and sclerotic bones that are fragile and break easily. It can be inherited in various patterns like autosomal-dominant, autosomal-recessive or as X-linked traits, but the most grievous forms of its inheritance are the autosomal-recessive ones, which show early onset and are associated with very poor prognosis. We report here the case of an asymptomatic young boy, who was diagnosed as the case of autosomal recessive osteopetrosis on the basis of his genetic studies. The reason for his unusual asymptomatic disease was the location of mutation in TCIRG1 gene that was revealed from his genetic studies. Another unusual point about him was his survival at this age, which is surprisingly rewarding as patients with autosomal recessive osteopetrosis usually die earlier by the age of 2-3 years.
Hasnain Abbas
HA
Dharamshi
Syed Arsalan
SA
Ahmed
Ali Abbas
AA
Mohsin
Syed Muhammad
SM
Mustahsan
Reshma
R
Devi
Anaam
A
Iqbal
Syed Muhammad All
SM
Abidi
D058070:Asymptomatic Diseases; D002648:Child; D006801:Humans; D008297:Male; D009154:Mutation; D010022:Osteopetrosis / Q000175:diagnosis*; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
C472421:TCIRG1 protein, human; D025262:Vacuolar Proton-Translocating ATPases