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Children with the Sanjad–Sakati syndrome have a triad of hypoparathyroidism (with episodes of hypocalcemia, hypocalcemic tetany and hypocalcemic seizures), severe intellectual disability and dysmorphism. Typically, children with this syndrome are born low-birth-weight due to intrauterine growth retardation.
Hypocalcemia is a medical condition characterized by low calcium levels in the blood serum. [5] The normal range of blood calcium is typically between 2.1–2.6 mmol/L (8.8–10.7 mg/dL, 4.3–5.2 mEq/L), while levels less than 2.1 mmol/L are defined as hypocalcemic. [1] [3] [6] Mildly low levels that develop slowly often have no symptoms.
Trousseau sign of latent tetany is a medical sign observed in patients with low calcium. [1] From 1 to 4 percent of normal patients will test positive for Trousseau's sign of latent tetany. [ 2 ] This sign may be positive before other manifestations of hypocalcemia such as hyperreflexia and tetany , as such it is generally believed to be more ...
Hypocalcemia is the primary cause of tetany. Low ionized calcium levels in the extracellular fluid increase the permeability of neuronal membranes to sodium ion, causing a progressive depolarization, which increases the possibility of action potentials.
Chvostek's sign is not a very specific sign of tetany as it may be seen in 10% to 25% of healthy adults. [8] It is therefore not a reliable clinical sign for diagnosing latent tetany. [9] [10] The sensitivity is lower than that in the corresponding Trousseau sign as it is negative in 30% of patients with hypocalcemia. [11]
Low vitamin D in the body can lead to a lack of calcium absorption and secondary hyperparathyroidism (hypocalcemia and raised parathyroid hormone). [1] Symptoms of hypocalcemia include numbness in fingers and toes, muscle cramps, irritability, impaired mental capacity and muscle twitching. [1]
Osteomalacia in children is known as rickets, and because of this, use of the term "osteomalacia" is often restricted to the milder, adult form of the disease. Signs and symptoms can include diffuse body pains, muscle weakness, and fragility of the bones.
Symptoms of hypernatremia may vary depending on type and how quickly the electrolyte disturbance developed. [27] Common symptoms are dehydration, nausea, vomiting, fatigue, weakness, increased thirst, and excess urination. Patients may be on medications that caused the imbalance such as diuretics or nonsteroidal anti-inflammatory drugs. [27]