This rare disease is hidden too deep, and doctors are pulling out the “culprit”

For Ms. Xu, she never thought that what she thought was a small problem such as numbness in the legs, hiccups, itchy skin, etc., was found to be a rare disease with an incidence rate of about 1 in 100,000, and the diagnosis process Also twists and turns. Recently, with the help of the neurology medical team of Jiangsu Provincial Hospital of Traditional Chinese Medicine, Ms. Xu found out the “culprit” through these inconspicuous “minor problems”.

My legs are numb for unknown reasons. Walking is like stepping on cotton.

Two months ago, Ms. Xu, who lives in Anhui Tianchang, 55 years old, suddenly felt numb in her feet and calves. I thought it was a cramp, but after two days, my whole thigh and buttocks started to feel numb, and I had no strength. Walking was like stepping on a ball of cotton. After about a week, Ms. Xu began to have symptoms such as nausea, vomiting, hiccups (hiccups), and itchy facial skin. At this time, she realized that the situation was not good, and rushed to the local hospital for treatment. The local hospital performed an MRI of her head and lumbar and cervical spine. It was found that there was mild ischemia in the lateral cerebral ventricle, herniated cervical and lumbar intervertebral discs, and EMG showed peripheral nerve damage. Syndrome” (an autoimmune peripheral neuropathy mainly with peripheral nerve damage), so she gave drug treatment, but Ms. Xu’s numbness in both lower limbs did not improve, and nausea, vomiting, and hiccups occurred frequently. Itching was scratched.

Because the treatment effect was not good, and her fingertips began to feel numb and dizzy, Ms. Xu requested to go to a higher-level hospital for further diagnosis and treatment, so she went to the Department of Neurology of Jiangsu Provincial Hospital of Traditional Chinese Medicine to get an expert number. Nearly a month has passed since the initial onset time. Chief physician Li Hui found that Ms. Xu’s lower limbs were still weak and numb, and the tendon reflexes of both lower limbs disappeared, accompanied by nausea and vomiting, and she was recommended to be admitted to the hospital for further examination and treatment.

The symptoms are still not getting better

“Frequent hiccups” find out the truth

After admission, the blood routine + hsCRP, 7 items of thyroid function, Blood biochemistry, blood homocysteine ​​determination and other tests showed that Ms. Xu suffered from hyperlipidemia, hypothyroidism and other diseases. According to the patient’s physical signs and the results of electromyography, peripheral nerve injury was considered first, so the cerebrospinal fluid and peripheral ganglioside antibodies were examined as auxiliary, but the results could not be further confirmed. The medical team gave treatment based on experience, but Ms. Xu’s numbness in her lower limbs still did not improve, and double vision began to appear, and her condition was still aggravating. Could it be a reaction caused by the tumor? The team performed tumor screening on the patient and found no obvious abnormality. Are there other rare cases?

When nothing could be done, Li Hui discovered that Ms. Xu had symptoms of itchy skin and frequent hiccups (intractable hiccups), but she had no previous gastrointestinal disease. There were suspicious abnormal signal shadows on the dorsal side of the medulla. The team highly suspected that the patient might have posterior pole syndrome, so they further performed thin MRI scans and enhanced enhancement of the brainstem to confirm the existence of medulla lesions. A “lumbar puncture” was performed again, and relevant antibodies were detected. Fortunately, the test results confirmed that Ms. Xu’s serum anti-AQP4 antibody IgG was positive, which is a core indicator for the diagnosis of “neuromyelitis optica”, which means that Ms. Xu suffers from a rare disease with an incidence rate of about 1 in 100,000. Ms. Xu also complained of dry mouth and invited the Department of Rheumatology and Immunology to conduct a multidisciplinary MDT consultation and conducted related examinations. As expected, she also suffered from Sjögren’s syndrome (SS), and was finally diagnosed as “neuromyelitis optica combined”. Sjogren’s Syndrome”.

See the micro-knowledge

Traditional Chinese and Western medicine to eliminate the root of the disease

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease of the central nervous system. It is generally related to human immune abnormalities. It is caused by the immune disorder of the human body attacking its own organs, mainly involving the optic nerve, spinal cord and special parts of the brain. Comprehensive examinations such as magnetic resonance, cerebrospinal fluid, serum autoantibodies and serum NMO-IgG can be used. Diagnosed. It is even rarer that Sjögren’s syndrome (SS) and NMOSD co-occur in the same patient.

“The patient’s symptoms are not typical, and the early manifestations are the disappearance of tendon reflexes. In addition, the EMG indicates peripheral nerve damage, which is clinically confusing,” Li Hui said. During the diagnosis and treatment process, the team Instead of blindly relying on the results of the examination and testing, he gave full consideration to the patient’s hiccups of unknown cause. After repeated readings according to the symptoms of hiccups, he finally found the key diagnostic basis. Itching of the skin can also occur, and can even appear as the first symptom. Therefore, every small symptom of the patient, such as hiccups, itchy skin, dry mouth, etc., needs to be paid enough attention, and the hidden root of the disease can be identified and treated in time.

After the diagnosis of Ms. Xu’s neuromyelitis optica, the neurology medical team quickly adjusted the medication regimen according to the patient’s condition, and injected the patient with human immunoglobulin and combined with glucocorticoid for treatment. According to TCM syndrome differentiation, Ms. Xu’s disease belongs to the category of “Atrophy Syndrome” in TCM. Her tongue is dark red, thin and white fur, thin pulse, congenital deficiency, and liver and kidney deficiency, resulting in insufficient essence, blood and body fluids, dystrophy and relaxation of Zongjin, which cannot be restrained. The bones and joints are beneficial to the joints, so that the muscles are weak, thin and withered, so the Chinese medicine prescription of “replenishing the liver and kidney, nourishing the muscles and veins” is prescribed, and traditional Chinese medicine such as thunder fire moxibustion is added for auxiliary treatment. In addition, the existing hyperlipidemia, hypothyroidism and other diseases are simultaneously administered for treatment. After treatment with integrated traditional Chinese and Western medicine, Ms. Xu’s nausea, vomiting, hiccups, and skin itching were quickly relieved, the double vision in both eyes disappeared, and the numbness in both lower extremities and fingertips gradually improved. She has recovered well and was discharged from the hospital, and she is instructed to return to the clinic regularly.