The rare disease of chronic infantile neurological cutaneous and articular(CINCA)syndrome,is caused by the over-secretion of interleukin(IL)-1βdue to a gain-of-function NLRP3 gene mutation in the autosomal chromosome...The rare disease of chronic infantile neurological cutaneous and articular(CINCA)syndrome,is caused by the over-secretion of interleukin(IL)-1βdue to a gain-of-function NLRP3 gene mutation in the autosomal chromosome which often involves in eyes.In this report,we studied a 9-year-old girl with CINCA.The eyes were also involved and presented bilateral papilledema.Genetic testing revealed that the symptoms were caused by a novel gene mutation site(c.913G>A,p.D305N)in conservative domain exon-3 of NLRP3 which is gain-function gene of CINCA.The patient had the characteristic facial features,frontal fossa and saddle nose,manifested the generalized urticaria-like skin rash at two weeks after birth,periodic fever 6 months after birth,sensorineural deafness at 7 years old,and bilateral papilledema,aseptic meningitis and knee arthropathy at 9 years old.White cell counts,C-reactive protein increased and intracranial pressure raised to 300 mmH2O.The meningeal thickening enhanced by gadolinium in magnetic resonance imaging(MRI).Based on clinical features and genetic test,the girl was diagnosed bilateral papilledema secondary to CINCA and administered prednisone and lowered intracranial pressure medicine to resolve symptoms.With 3-year follow-up,patient had no inflammatory flare-up with visual acuity improvement.The finding of novel genetic mutation site(p.D305N)in NLRP3 gene expanded genotype spectrum associated with CINCA.This case also expanded the cause spectrum of papilledema and it highlighted systemic disease history for patients with bilateral papilledema.展开更多
AIM To study the usefulness of orbital ultrasonography in the diagnosis of papilledema.METHODS Fifty patients who were referred to the neurophthalmology clinic and clinically suspected to have papilledema were selecte...AIM To study the usefulness of orbital ultrasonography in the diagnosis of papilledema.METHODS Fifty patients who were referred to the neurophthalmology clinic and clinically suspected to have papilledema were selected. Thorough, clinical examination with slitlamp biomicroscopy and visual acuity assessment was done. These patients underwent ultrasonography to demonstrate the crescent sign. The patients were further evaluated with the neurologist and magnetic resonance imaging(MRI) thus confirming the diagnosis of papilledema. The results of our ultrasonographic evaluation were correlated with final diagnosis after thorough clinical evaluation, imaging and the neurologist's opinion.RESULTS Out of 50 patients diagnosed having papilledema on MRI, 46(92%) showed crescent sign on B scan ultrasonography. Headache was most common presenting complaint in 47(94%) and idiopathic intracranial hypertension was most common underlying cause of papilledema in 30(60%) cases.CONCLUSION"Crescent sign" seen on ultrasonography is a sensitive tool for diagnosis of papilledema. It is cost effective, less cumbersome and effective tool to differentiatebetween papilledema and pseudo papilledema before subjecting the patients to costly investigations like MRI. A positive crescent sign should always be followed by MRI to find out the cause of papilledema.展开更多
Subdural hematomas are often life-threatening when acute but chronic subdural hematomas, however, have better prognosis if properly managed. Chronic subdural hematomas are common in the elderly due to shrinkage of bra...Subdural hematomas are often life-threatening when acute but chronic subdural hematomas, however, have better prognosis if properly managed. Chronic subdural hematomas are common in the elderly due to shrinkage of brain tissue, but in young patient mostly associated with head injury. It is seen also in young having various coagulopathies associated with blood disorders or drug-induced, but it is very rare. Propylthiouracil (PTU) is an oral medication that is used in treatment of hyperthyroidism approved by FDA in July 1947. This medication may rarely cause very serious blood disorders (such as a low number of red cells, white cells, and platelets), especially during the first few months of treatment. We are reporting a rare case of PTU-induced thrombocytopenia leading to chronic subdural haematoma, which presented with established papilledema and signs of raised ICP in a hyperthyroid female and she responded well to surgical management.展开更多
Background:To present a female child patient with osteogenesis imperfecta who had bilateral papilledema.Case presentation:A twelve-year-old girl with osteogenesis imperfecta was referred to our clinic.Bilateral best c...Background:To present a female child patient with osteogenesis imperfecta who had bilateral papilledema.Case presentation:A twelve-year-old girl with osteogenesis imperfecta was referred to our clinic.Bilateral best corrected visual acuity of the patient was 5/10(corrected with+3.50 for right eye,+5.00 for left eye)with a standard Snellen scale at a distance of a 6 m.Anterior chamber,iris and lens examination of both of her eyes were unremarkable.In her fundus examination,bilateral stage 2 papilledema and the wrinkles in papillomacular area were noticed.Optical coherence tomography images revealed the macular pucker and thickening in the retinal nerve fibre layers of both eyes.Computed tomography images revealed that there were ossifications in the optic chiasma and occlusion in all periorbital sinus areas.Conclusion:Osteogenesis imperfecta is a rare,autosomal dominant connective tissue disorder characterised by bone fractures,deafness and blue sclera.We would like to draw attention to the clinical course of our patient with computed tomography,optical coherence tomography and visual field findings.展开更多
文摘The rare disease of chronic infantile neurological cutaneous and articular(CINCA)syndrome,is caused by the over-secretion of interleukin(IL)-1βdue to a gain-of-function NLRP3 gene mutation in the autosomal chromosome which often involves in eyes.In this report,we studied a 9-year-old girl with CINCA.The eyes were also involved and presented bilateral papilledema.Genetic testing revealed that the symptoms were caused by a novel gene mutation site(c.913G>A,p.D305N)in conservative domain exon-3 of NLRP3 which is gain-function gene of CINCA.The patient had the characteristic facial features,frontal fossa and saddle nose,manifested the generalized urticaria-like skin rash at two weeks after birth,periodic fever 6 months after birth,sensorineural deafness at 7 years old,and bilateral papilledema,aseptic meningitis and knee arthropathy at 9 years old.White cell counts,C-reactive protein increased and intracranial pressure raised to 300 mmH2O.The meningeal thickening enhanced by gadolinium in magnetic resonance imaging(MRI).Based on clinical features and genetic test,the girl was diagnosed bilateral papilledema secondary to CINCA and administered prednisone and lowered intracranial pressure medicine to resolve symptoms.With 3-year follow-up,patient had no inflammatory flare-up with visual acuity improvement.The finding of novel genetic mutation site(p.D305N)in NLRP3 gene expanded genotype spectrum associated with CINCA.This case also expanded the cause spectrum of papilledema and it highlighted systemic disease history for patients with bilateral papilledema.
文摘AIM To study the usefulness of orbital ultrasonography in the diagnosis of papilledema.METHODS Fifty patients who were referred to the neurophthalmology clinic and clinically suspected to have papilledema were selected. Thorough, clinical examination with slitlamp biomicroscopy and visual acuity assessment was done. These patients underwent ultrasonography to demonstrate the crescent sign. The patients were further evaluated with the neurologist and magnetic resonance imaging(MRI) thus confirming the diagnosis of papilledema. The results of our ultrasonographic evaluation were correlated with final diagnosis after thorough clinical evaluation, imaging and the neurologist's opinion.RESULTS Out of 50 patients diagnosed having papilledema on MRI, 46(92%) showed crescent sign on B scan ultrasonography. Headache was most common presenting complaint in 47(94%) and idiopathic intracranial hypertension was most common underlying cause of papilledema in 30(60%) cases.CONCLUSION"Crescent sign" seen on ultrasonography is a sensitive tool for diagnosis of papilledema. It is cost effective, less cumbersome and effective tool to differentiatebetween papilledema and pseudo papilledema before subjecting the patients to costly investigations like MRI. A positive crescent sign should always be followed by MRI to find out the cause of papilledema.
文摘Subdural hematomas are often life-threatening when acute but chronic subdural hematomas, however, have better prognosis if properly managed. Chronic subdural hematomas are common in the elderly due to shrinkage of brain tissue, but in young patient mostly associated with head injury. It is seen also in young having various coagulopathies associated with blood disorders or drug-induced, but it is very rare. Propylthiouracil (PTU) is an oral medication that is used in treatment of hyperthyroidism approved by FDA in July 1947. This medication may rarely cause very serious blood disorders (such as a low number of red cells, white cells, and platelets), especially during the first few months of treatment. We are reporting a rare case of PTU-induced thrombocytopenia leading to chronic subdural haematoma, which presented with established papilledema and signs of raised ICP in a hyperthyroid female and she responded well to surgical management.
文摘Background:To present a female child patient with osteogenesis imperfecta who had bilateral papilledema.Case presentation:A twelve-year-old girl with osteogenesis imperfecta was referred to our clinic.Bilateral best corrected visual acuity of the patient was 5/10(corrected with+3.50 for right eye,+5.00 for left eye)with a standard Snellen scale at a distance of a 6 m.Anterior chamber,iris and lens examination of both of her eyes were unremarkable.In her fundus examination,bilateral stage 2 papilledema and the wrinkles in papillomacular area were noticed.Optical coherence tomography images revealed the macular pucker and thickening in the retinal nerve fibre layers of both eyes.Computed tomography images revealed that there were ossifications in the optic chiasma and occlusion in all periorbital sinus areas.Conclusion:Osteogenesis imperfecta is a rare,autosomal dominant connective tissue disorder characterised by bone fractures,deafness and blue sclera.We would like to draw attention to the clinical course of our patient with computed tomography,optical coherence tomography and visual field findings.
