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Neuromyelitis optica (NMOSD) is a serious inflammatory disease of the central nervous system.
The clinical diagnosis contains autoantibodies against AQP4 protein.
The AQP4 antibody is pathogenic, and the antibody should enter the central nervous system through the blood-brain barrier (BBB) and cellular/humoral immune factors.
However, the mechanism by which it causes increased permeability of the blood-brain barrier and NMOSD is not yet fully understood.
Amyotrophic Crest Lateral Sclerosis (ALS) is a fatal neurodegenerative disease in which patients show loss of motor neurons.
The pathological mechanism of ALS is still unclear, and damage to the blood-brain barrier has been considered as a possible factor in the pathogenesis and progression of the disease.
ALS and NMOSD are two rare neurological diseases.
Recent studies have shown that the prevalence of ALS and NMOSD are 3.
43 per 100,000 and 2.
56 per 100,000, respectively.
Therefore, the coexistence of ALS and NMOSD is extremely rare.
Only 2 cases have been reported.
One case of NMOSD occurred before ALS, and the other case of long-standing ALS later developed perforating myelitis.
Recently, Sunchun University Hospital in South Korea reported that a female patient with ALS carried AQP4 antibody at the time of ALS diagnosis, but did not show symptoms of NMOSD, but NMOSD was diagnosed 6 years after ALS was diagnosed.
The following are the details of the case: The patient first developed weakness in his left upper limb when he was 53 years old.
Muscle weakness slowly progressed to both upper and lower limbs, and deep tendon reflexes increased, but there was no pain or sensory symptoms.
Laboratory imaging studies and electrical diagnosis are used to diagnose amyotrophic lateral sclerosis.
Magnetic resonance imaging (MRI) of the brain and spine found no abnormalities.
Except for the AQP4 antibody, laboratory tests were normal.
He was diagnosed with amyotrophic lateral sclerosis since the age of 55.
As her condition worsened, she was bedridden and underwent a tracheotomy.
Her upper limbs are weak, her finger flexor and extensor muscles have reached the Medical Research Council (MRC) level 2 and the leg muscles have reached MRC level 3.
At the age of 59, a neurological examination showed that except for both fingers with MRC Grade II, the rest of the limbs had obvious weakness and atrophy, and the MRC grade was 0.
There is a sensory level in the T4 area, and there is a sensory loss in the lower limbs.
The plantar extensor response appears on both sides.
At the same time accompanied by bladder dysfunction.
Magnetic resonance imaging of the spinal cord showed T2 hyperintensity throughout the spinal cord.
The analysis of cerebrospinal fluid showed mild lymphocytosis and elevated protein levels.
The white blood cell count in the cerebrospinal fluid was 7/uL and the cerebrospinal fluid protein was 267.
06 mg/dL.
Autoimmune vasculitis, paraneoplastic antibodies, serum antibodies, and viral infection of cerebrospinal fluid PCR tests were all negative, but AQP4 antibodies were positive.
According to the international consensus diagnostic criteria of NMOSD, she was diagnosed as seropositive NMOSD.
Five days after intravenous injection of 1000 mg of methylprednisolone, the pain eased, but the weakness of the legs did not improve.
One month after he was discharged from the hospital, the follow-up examination at the outpatient clinic did not improve, and his legs were paralyzed.
Further results cannot be assessed.
Amyotrophic lateral sclerosis is a progressive motor neuron disease.
In the late stage of the disease, due to its own serious defects, other diseases may not be detected.
This patient already has severe weakness, but pain, sensory loss and bladder dysfunction may be clues to the diagnosis of penetrating myelitis, which is the beginning of NMOSD.
Therefore, the report of this case suggests that in clinical diagnosis, if ALS patients have AQP4 antibodies, it is recommended to follow up the risk of NMOSD carefully.
References: Kim JY, Oh HJ, Kim Y, Seok JM.
Sporadic amyotrophic lateral sclerosis with seropositive neuromyelitis optica spectrum disorder: A case report.
Medicine (Baltimore).
2021;100(16):e25580.
Written by Yuting Wang|Edited by Jessica
The clinical diagnosis contains autoantibodies against AQP4 protein.
The AQP4 antibody is pathogenic, and the antibody should enter the central nervous system through the blood-brain barrier (BBB) and cellular/humoral immune factors.
However, the mechanism by which it causes increased permeability of the blood-brain barrier and NMOSD is not yet fully understood.
Amyotrophic Crest Lateral Sclerosis (ALS) is a fatal neurodegenerative disease in which patients show loss of motor neurons.
The pathological mechanism of ALS is still unclear, and damage to the blood-brain barrier has been considered as a possible factor in the pathogenesis and progression of the disease.
ALS and NMOSD are two rare neurological diseases.
Recent studies have shown that the prevalence of ALS and NMOSD are 3.
43 per 100,000 and 2.
56 per 100,000, respectively.
Therefore, the coexistence of ALS and NMOSD is extremely rare.
Only 2 cases have been reported.
One case of NMOSD occurred before ALS, and the other case of long-standing ALS later developed perforating myelitis.
Recently, Sunchun University Hospital in South Korea reported that a female patient with ALS carried AQP4 antibody at the time of ALS diagnosis, but did not show symptoms of NMOSD, but NMOSD was diagnosed 6 years after ALS was diagnosed.
The following are the details of the case: The patient first developed weakness in his left upper limb when he was 53 years old.
Muscle weakness slowly progressed to both upper and lower limbs, and deep tendon reflexes increased, but there was no pain or sensory symptoms.
Laboratory imaging studies and electrical diagnosis are used to diagnose amyotrophic lateral sclerosis.
Magnetic resonance imaging (MRI) of the brain and spine found no abnormalities.
Except for the AQP4 antibody, laboratory tests were normal.
He was diagnosed with amyotrophic lateral sclerosis since the age of 55.
As her condition worsened, she was bedridden and underwent a tracheotomy.
Her upper limbs are weak, her finger flexor and extensor muscles have reached the Medical Research Council (MRC) level 2 and the leg muscles have reached MRC level 3.
At the age of 59, a neurological examination showed that except for both fingers with MRC Grade II, the rest of the limbs had obvious weakness and atrophy, and the MRC grade was 0.
There is a sensory level in the T4 area, and there is a sensory loss in the lower limbs.
The plantar extensor response appears on both sides.
At the same time accompanied by bladder dysfunction.
Magnetic resonance imaging of the spinal cord showed T2 hyperintensity throughout the spinal cord.
The analysis of cerebrospinal fluid showed mild lymphocytosis and elevated protein levels.
The white blood cell count in the cerebrospinal fluid was 7/uL and the cerebrospinal fluid protein was 267.
06 mg/dL.
Autoimmune vasculitis, paraneoplastic antibodies, serum antibodies, and viral infection of cerebrospinal fluid PCR tests were all negative, but AQP4 antibodies were positive.
According to the international consensus diagnostic criteria of NMOSD, she was diagnosed as seropositive NMOSD.
Five days after intravenous injection of 1000 mg of methylprednisolone, the pain eased, but the weakness of the legs did not improve.
One month after he was discharged from the hospital, the follow-up examination at the outpatient clinic did not improve, and his legs were paralyzed.
Further results cannot be assessed.
Amyotrophic lateral sclerosis is a progressive motor neuron disease.
In the late stage of the disease, due to its own serious defects, other diseases may not be detected.
This patient already has severe weakness, but pain, sensory loss and bladder dysfunction may be clues to the diagnosis of penetrating myelitis, which is the beginning of NMOSD.
Therefore, the report of this case suggests that in clinical diagnosis, if ALS patients have AQP4 antibodies, it is recommended to follow up the risk of NMOSD carefully.
References: Kim JY, Oh HJ, Kim Y, Seok JM.
Sporadic amyotrophic lateral sclerosis with seropositive neuromyelitis optica spectrum disorder: A case report.
Medicine (Baltimore).
2021;100(16):e25580.
Written by Yuting Wang|Edited by Jessica
