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Abstract: The patient in this case is a 15-year-old girl who sought emergency medical attention for convulsions and unconsciousness 3 hours ago, and was diagnosed with pseudohypoparathyroidism by perfecting cranial CT, 25 hydroxyvitamin D, and parathyroid hormone (PTH) tests. In the acute stage, calcium gluconate injection was slowly supplemented intravenously and the patient was given oral medication. After treatment, there were no convulsive episodes, the mental status was good, and all indicators improved.
[Basic information] Female, 15 years old
Disease Type】Pseudohypoparathyroidism
Hospital】Shengjing Hospital of China Medical University
Date of Consultation】February 2022
Treatment plan】Medication (calcium gluconate injection, calcium carbonate D3 tablets, vitamin D drops, osteopontin softgels)
Treatment period】7 days of inpatient treatment, 1 month of outpatient follow-up
Treatment effect】No convulsive seizures, good mental status, all indicators improved
I. Initial consultation
The patient presented to the emergency room 3 hours before the visit with symptoms of convulsions, unconsciousness, tonic shaking of the limbs, hand and foot twitching (claw-shaped hand), neck tilting back, double eye gaze, foaming at the mouth, and slight cyanosis around the mouth for 2 to 3 minutes. The emergency physician asked me to assist in the diagnosis and treatment because of low calcium and high phosphorus.
The patient’s general condition was fine, the facial nerve percussion test was positive, and no significant abnormalities were observed. The test results showed that PTH: 221 pg/mL, 25 hydroxyvitamin D: 21 ng/mL (suggesting vitamin D deficiency), 24-hour urine volume: 1.2 L, urine calcium: 0.7 mmol/d, urine phosphorus: 8.5 mmol/d. The head CT suggested: bilateral basal ganglia and frontoparietal-occipital lobe symmetrical multiple calcification foci, EEG suggested: slightly slowed background activity, the patient’s liver and kidney The patient’s liver and kidney function, thyroid function, sodium, potassium and magnesium were normal, and the ultrasound of thyroid and parathyroid glands, ureteral bladder of both kidneys did not show any abnormality.
(Parathyroid hormone (PTH))
II. Treatment history
The patient and his family were asked for a detailed medical history. 6 years ago, a convulsion occurred without any obvious cause, which was characterized by unconsciousness, tonic shaking of the limbs, twitching of the hands and feet, rearing of the neck, staring of the eyes, slightly purple lips, and duration of 1-2 minutes, similar to today’s convulsion. He was diagnosed as “epilepsy” in a local hospital due to repeated convulsions. In recent years, he was intermittently treated with oral antiepileptic drugs, but the effect was not good. The seizures were 1-3 times per year and lasted for a short time, ranging from 1-3 minutes. Family members reported that the patient had personality changes and bad temper in recent years and thought it was adolescence. Patient self-reported: feeling irritable from time to time, poor memory, and average academic performance. Combining the patient’s medical history and relevant examinations, the diagnosis of pseudohypoparathyroidism was made based on laboratory tests such as low calcium, high phosphorus, high PTH, and intracranial calcification foci. This disease is a rare genetic disorder of the parathyroid glands, so genetic testing is the gold standard for the diagnosis of pseudohypoparathyroidism, but the patient refused genetic testing due to financial constraints. So the patient was given treatment. On the treatment plan, calcium gluconate injection was slowly supplemented intravenously during the acute period, and the patient was given oral calcium carbonate D3 tablets, vitamin D drops, and osteopontin triol soft capsules, and was discharged after gradual improvement of all indexes after treatment.
III. Treatment effect
After discharge, the patient was instructed to continue to take oral calcium carbonate D3 tablets, vitamin D drops, and osteopontin soft capsules. 1 month later, the patient’s blood calcium, blood phosphorus, PTH, and vitamin D were rechecked at the endocrine clinic, and the results showed that all indicators were improving and no further convulsions occurred. The patient was told to continue the current treatment and to recheck again in 2-3 months. At present, the patient has been treated for 4 months, and the relevant indexes were rechecked, and the blood calcium and blood phosphorus were basically corrected, and there has been no seizure-like seizure during this period, and the patient’s mental status is good.
IV. Notes
It is very gratifying that the patient’s symptoms have improved after active treatment, but pseudohypoparathyroidism is a genetic disease and cannot be cured yet, so in the treatment, one must not cut off the medication without permission, nor can one simply take calcium supplements, but must take vitamin D at the same time to promote intestinal calcium absorption, and one needs to insist on long-term supplementation of calcium and vitamin D. The purpose of correcting low calcium and high phosphorus is to eliminate hand and foot convulsions and epileptic-like seizures and other manifestations, and to prevent disease progression. During the course of drug treatment, patients should regularly follow up at the endocrine clinic to monitor blood calcium, blood phosphorus, urinary calcium excretion, vitamin D, etc., in order to adjust the dose of drugs. The purpose of regular review is to control blood calcium at the low limit of normal, avoid high blood calcium and high urinary calcium, and avoid vitamin D toxicity. Treatment, mainly with drugs to correct low blood calcium, pay attention to calcium carbonate and meals taken together for better absorption. Vitamin D is a fat-soluble vitamin and can be taken together with calcium. For diet, it is recommended to take 1 bag of milk daily and pay attention to avoid strenuous exercise to prevent fracture.
V. Personal insight
Pseudohypoparathyroidism is characterized by low calcium, high phosphorus and high PTH, which can be accompanied by hand and foot convulsions, epileptiform seizure symptoms, and in severe cases, laryngeal spasm caused by convulsions and spasms leading to asphyxia or even death. Therefore, in acute seizures, intravenous calcium gluconate injection should be given immediately to quickly terminate convulsions and spasms and prevent physical injury. If you encounter patients with seizure-like manifestations or those who do not have good results with antiepileptic treatment, you should be alert to the possibility of hypoparathyroidism and promptly check blood calcium, blood phosphorus, PTH, urine calcium, urine phosphorus, EEG and head CT to confirm the diagnosis as early as possible to avoid misdiagnosis and delayed treatment. As in this case, the patient has been treated as “epilepsy”, but the treatment effect is not good. If you find that the treatment effect is not good, you should immediately consult a doctor for early detection, early diagnosis and early treatment.