Late-onset Visual Loss in Osteopetrosis.
نویسندگان
چکیده
Late-onset visual loss is a complication of nerve entrapment and increased intracranial pressure. We hereby describe the first case in Eastern Africa. A 23 year-old lady presented with sudden blindness, headaches and body weakness. She had previously had treatment for multiple unexplained fractures. Findings of optic nerve entrapment explained this blindness. This case highlights the need to have a high index of suspicion in cases of unexplained fractures with late-onset blindness.
منابع مشابه
99mTc-TRODAT-1 SPECT Imaging in Early and Late Onset Parkinson’s Disease
Objective(s): 99mTc-TRODAT-1, which binds to the dopamine transporter, could be used to image the dopaminergic system in diagnosis of Parkinson’s disease (PD). PD can be classified into two groups: late onset Parkinson’s disease (LOPD) and early onset Parkinson’s disease (EOPD). In this study we tried to determine the TRODAT SPECT findings in EOPD as compared to LOPD.Methods: Fifteen patients w...
متن کاملPERSONAL PRACTICE Autosomal recessive osteopetrosis: diagnosis, management, and outcome
Autosomal recessive “malignant” osteopetrosis is a rare congenital disorder of bone resorption. It is caused by the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and clinically to the signs and symptoms of bone marrow failure. Impaired bone remodelling causes bony narrowing of the cranial nerve foramina which results in cranial nerve, especi...
متن کاملCASE REPORT Diagnostic Dilemma: Osteopetrosis with superimposed rickets causing Neonatal Hypocalcemia
Osteopetrosis is a rare genetic condition of reduced osteoclastic bone resorption which causes defective bone remodeling and skeletal sclerosis during growth, having effects on many organs and tissues. Mutation of T-cell immune regulator 1 (TCRG1) gene is the most common genetic defect leading to osteopetrosis, with poor prognosis. The autosomal recessive form presents in the infantile period (...
متن کاملOsteopetrosis | Orphanet Journal of Rare Diseases | Full Text
Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence o...
متن کاملOsteopetrosis
Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence o...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Sultan Qaboos University medical journal
دوره 11 3 شماره
صفحات -
تاریخ انتشار 2011