Hypophosphatasia Diagnosis and Complications

Play an AI-generated podcast conversation about this lesson

What is the primary goal of treatment for hypercalcemia?

Reduce the calcium level to below 11.5 mg/dl (correct)

Increase the level of parathyroid hormone

Decrease the phosphorus level in the blood

Increase the magnesium level in the body

What is the most common cause of primary hypoparathyroidism?

Increased levels of calcium in the blood

Genetic defects in parathyroid hormone secretion

Surgical excision of, or damage to, the parathyroid glands (correct)

Deficiency of vitamin D

What is a common symptom of hypocalcemia?

Circumoral numbness (correct)

Respiratory failure

Weakened muscles

Cardiac arrhythmias

What may be seen on a skull X-ray or CT scan in patients with chronic hypocalcemia?

Calcification of the basal ganglia Signup and view all the answers

What is a potential complication of hypocalcemia?

Laryngospasm Signup and view all the answers

What is a characteristic of primary hypoparathyroidism?

Hypocalcemia and hyperphosphatemia Signup and view all the answers

What is the age range when most patients with polyostotic fibrous dysplasia show symptoms?

Before 10 years of age Signup and view all the answers

What is the percentage of patients with polyostotic fibrous dysplasia who experience leg-length discrepancy?

70% Signup and view all the answers

What is the characteristic sign of polyostotic fibrous dysplasia in the femur?

Shepherd's crook deformity Signup and view all the answers

What is the percentage of patients with polyostotic fibrous dysplasia who have pathologic fracture?

85% Signup and view all the answers

What is the name of the syndrome that involves nearly all bones in the skeleton and is accompanied by pigmented lesions of the skin and endocrine disturbances?

Albright's syndrome Signup and view all the answers

What is the frequency of craniofacial form in patients with polyostotic fibrous dysplasia?

50% Signup and view all the answers

What is the name of the gene that, when mutated, may lead to pathologic activation of osteoclasts and disruption of jaw development in cherubism?

SH3BP2 Signup and view all the answers

What is the characteristic appearance of the jaw in patients with cherubism?

Broad and protruding Signup and view all the answers

Which of the following is NOT a differential diagnosis of cherubism?

Primary osteosarcoma Signup and view all the answers

What is the pattern of involvement of the maxilla and mandible in cherubism?

Symmetric Signup and view all the answers

What is the name of the chromosome where the gene for cherubism is mapped?

Chromosome 4p16 Signup and view all the answers

What is the only significant laboratory abnormality associated with cherubism?

Elevated alkaline phosphatase level Signup and view all the answers

In patients with the infantile form of hypophosphatasia, what complication arises due to rachitic deformities of the chest?

Respiratory complications Signup and view all the answers

What is a common finding in patients with the infantile form of hypophosphatasia despite an open fontanelle?

Premature craniosynostosis Signup and view all the answers

What is a frequent complaint in patients with the adult form of hypophosphatasia?

Foot pain Signup and view all the answers

What is a characteristic feature of the odontohypophosphatasic form of hypophosphatasia?

Premature loss of teeth Signup and view all the answers

What is a common finding in the skeletal deformities of patients with hypophosphatasia?

Dolichocephalic skull Signup and view all the answers

What is a common finding upon histologic examination of the skeleton in hypophosphatasia?

Rachitic abnormalities of the growth plates Signup and view all the answers

What is the significance of eosinophilic cuffing in cherubism?

It appears to be specific to cherubism but its absence does not exclude the diagnosis Signup and view all the answers

How do older, resolving lesions of cherubism typically change?

They show an increase in fibrous tissue and a decrease in the number of giant cells Signup and view all the answers

What is the primary factor in determining the treatment of cherubism?

The natural course of the disease and the individual case's clinical behavior Signup and view all the answers

When is surgery usually undertaken to correct jaw deformities in cherubism?

After puberty, when the remission phase has been reached Signup and view all the answers

What is a possible outcome of surgery in cherubism?

It ultimately accelerates the involution process Signup and view all the answers

What is NOT a differential diagnosis of cherubism?

Osteosarcoma Signup and view all the answers