A case report on bilateral neuromyelitis optica

Neuromyelitis optica (NMO, Devic disease) is an autoimmune inflammatory disorder of the central nervous system (CNS) in which the autoimmune system attacks myelin of the neurons located at the optic nerve and spinal cord, thus producing a simultaneously or sequential longitudinally extensive inflammation of the optic nerve (optic Neuritis) and spinal cord (myelitis). Early discrimination between NMO and multiple sclerosis is important because the two diseases have different natural histories and treatment regimens. Seropositivity for NMO-IgG and longitudinally extensive spinal cord lesions are characteristic of NMO. Despite the absence of a definitive therapeutic strategy for NMO syndrome, methylprednisolone pulse therapy is recommended in the acute phase. Treatment strategies in relapse phases are aimed at preventing relapses, and increasing evidence shows a better clinical response of immunosuppressive therapy than immuno-modulating therapy (a standard multiple sclerosis-modulating therapy). We have described a 32 years old girl who had visual loss due to acute optic neuritis before 15 days in right eye and followed by complete visual loss in left eye. NMO was diagnosed because of its characteristic longitudinal myelitis and positive NMO-IgG. After combine therapy with prednisolone and an immunosuppressant, the patient’s medical condition was stable and no relapse symptoms were observed

Subluxation of lens alarms to homocystinuria

Homocystinuria is a disorder of methionine metabolism. The term Homocystinuria refers as abnormally large amounts of homocystine are excreted in the urine. The condition was caused by impaired functioning of the cystionin B-synthetase (CBS) enzyme. Homocystinuria is an autosomal recessively inherited defect in the trans-sulfuration pathway (homocystinuria I) or methylation pathway (homocystinuria II and III). The most common form of homocystinuria is characterized by near sightedness, dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Homocystinuria has a current cumulative detection rate of 1 in 344,000. A high concentration of homocysteine makes fibrillin unstable. Fibrillin is responsible to form the structures which hold the lens of the eye in place. We report a case of 28 year old male with unilateral Subluxation of lens following trauma coincidentally diagnosed to have Homocystinuria and bilateral Subluxation of lens. On account of case we would like to emphasize homocystinuria should be considered as differential diagnosis in Subluxation of lens

Subluxation of lens alarms to homocystinuria

Homocystinuria is a disorder of methionine metabolism. The term Homocystinuria refers as abnormally large amounts of homocystine are excreted in the urine. The condition was caused by impaired functioning of the cystionin B-synthetase (CBS) enzyme. Homocystinuria is an autosomal recessively inherited defect in the trans-sulfuration pathway (homocystinuria I) or methylation pathway (homocystinuria II and III). The most common form of homocystinuria is characterized by near sightedness, dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Homocystinuria has a current cumulative detection rate of 1 in 344,000. A high concentration of homocysteine makes fibrillin unstable. Fibrillin is responsible to form the structures which hold the lens of the eye in place. We report a case of 28 year old male with unilateral Subluxation of lens following trauma coincidentally diagnosed to have Homocystinuria and bilateral Subluxation of lens. On account of case we would like to emphasize homocystinuria should be considered as differential diagnosis in Subluxation of lens

A case report on bilateral neuromyelitis optica

Neuromyelitis optica (NMO, Devic disease) is an autoimmune inflammatory disorder of the central nervous system (CNS) in which the autoimmune system attacks myelin of the neurons located at the optic nerve and spinal cord, thus producing a simultaneously or sequential longitudinally extensive inflammation of the optic nerve (optic Neuritis) and spinal cord (myelitis). Early discrimination between NMO and multiple sclerosis is important because the two diseases have different natural histories and treatment regimens. Seropositivity for NMO-IgG and longitudinally extensive spinal cord lesions are characteristic of NMO. Despite the absence of a definitive therapeutic strategy for NMO syndrome, methylprednisolone pulse therapy is recommended in the acute phase. Treatment strategies in relapse phases are aimed at preventing relapses, and increasing evidence shows a better clinical response of immunosuppressive therapy than immuno-modulating therapy (a standard multiple sclerosis-modulating therapy). We have described a 32 years old girl who had visual loss due to acute optic neuritis before 15 days in right eye and followed by complete visual loss in left eye. NMO was diagnosed because of its characteristic longitudinal myelitis and positive NMO-IgG. After combine therapy with prednisolone and an immunosuppressant, the patient’s medical condition was stable and no relapse symptoms were observed