Diagnosis of Williams Syndrome
Williams Syndrome Diagnosis: Book Excerpts
Diagnosis of Williams Syndrome: medical news summaries:
The following medical news items
are relevant to diagnosis and misdiagnosis issues for Williams Syndrome:
Diagnostic Tests for Williams Syndrome: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about diagnostis of Williams Syndrome.
HYPERCALCEMIA:
Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)
- Is the PTH assay increased? This would point to a parathyroid tumor or hyperplasia and ectopic PTH secretion.
- Is the alkaline phosphatase elevated? Hypercalcemia and an increased alkaline phosphatase without an increase in PTH assay suggests metastatic carcinoma of the bone, Paget's disease, and other bone tumors. Hypercalcemia without an elevated alkaline phosphatase is suggestive of multiple myeloma and hyperproteinemia due to other causes. A serum protein electrophoresis will help define this further.
DIAGNOSTIC WORKUP
A CBC, chemistry panel, 24-hr urine calcium, PTH assay,
serum 25(OH) vitamin D3
, free tetraiodothyronine (thyroxine) (T
4
), serum protein electrophoresis, skeletal survey, bone scan, and endocrinology consult may be part of any workup of hypercalcemia.
» READ BOOK EXCERPT ONLINE »
Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
Hypercalcemia:
Differential Diagnosis
(In a Page: Signs and Symptoms)
- Primary hyperparathyroidism
–Most commonly caused by an adenoma of one of the parathyroid glands (90% of cases of primary hyperparathyroidism)
–Less commonly caused by parathyroid hyperplasia or carcinoma (may be associated with multiple endocrine neoplasia syndromes)
–Symptoms may include weakness, confusion, polyuria, renal stones, nausea, and anorexia
–Symptoms are usually only present when calcium rises over 12 mg/dL - Drugs (e.g., thiazides, lithium)
- Malignancy (e.g., multiple myeloma, leukemia; lymphoma; breast, lung, and kidney cancers)
–Most common cause in hospitalized patients
–Hypercalcemia occurs due to stimulation of bone resorption by cytokines released from tumor cells or to the release of PTH-related peptide produced by the tumor
–Symptoms are identical to primary
hyperparathyroidism
-
Renal failure
-
Hyperthyroidism
-
Addison's disease
-
Familial hypocalciuric hypercalcemia
-
Vitamin A or D intoxication
-
Granulomatous disease (e.g., sarcoidosis, tuberculosis)
-
Adrenal insufficiency
-
Paget's disease
-
Immobilization
-
Hypophosphatemia
-
Acromegaly
-
Milk-alkali syndrome (due to excessive ingestion of milk or calcium supplements)
Workup and Diagnosis
- Complete history and physical examination
–Most cases are relatively asymptomatic (fatigue and other nonspecific symptoms present)
–“Stones, bones, abdominal groans, and psychic overtones” is the classic presentation; however, these are not common clinically
-
*
-
Stones: Renal stones in 50%
-
*
-
Bones: Bone pain, weakness, osteoporosis
-
*
-
Groans: Abdominal pain, nausea/vomiting, constipation, peptic ulcer disease, pancreatitis
-
*
-
Psychic overtones: Psychosis, depression, anxiety
–Evaluate for increased urination or renal stones, GI upset, confusion, tiredness, mental status changes, hyporeflexia, hypertension, arrhythmias, and coma
- Initial laboratory studies include serum and urinary calcium, electrolytes, BUN/creatinine, parathyroid hormone, PTH-related peptide, CBC, albumin, magnesium, phosphate, alkaline phosphatase, vitamin D
–The higher the plasma Ca2+, the more likely it is due to a
malignancy; it is generally more difficult to correct
–Be sure to correct calcium level for serum albumin
–Corrected calcium level =[0.8 ×(normal albumin - serum albumin) +serum Ca2+]
-
ECG may show ST depression, wide T waves, short ST segment, QT shortening, bradyarrhythmias, heart block
-
Further lab tests and/or imaging modalities may be indicated to evaluate for specific etiologies (e.g., CT scan to rule out nephrolithiasis, amylase/lipase)
» READ BOOK EXCERPT ONLINE »
Source: In a Page: Signs and Symptoms, 2004
Hypercalcemia:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
- Hyperparathyroidism
–Primary
–Familial (MEN types 1 and 2A)
–Familial (MEN types 1 and 2A)
–Most common endocrinopathy in
children with MEN 1
–PTH-secreting adenoma
–Secondary/tertiary
–Following renal transplantation
–Chronic hyperphosphatemia
-
Familial hypocalciuric hypercalcemia (FHH)
-
Vitamin D excess
–Nutritional excess
–Inflammatory/granulomatous diseases
–Sarcoidosis
–Eosinophilic granulomas
–Tuberculosis
–Coccidioidomycosis
–Coccidioidomycosis
–Lymphoma
-
Immobilization
–Bone resorption exceeds bone mineral accretion
-
Malignancy
–Neoplasms (leukemia, rhabdomyosarcoma,
ovarian tumor, brain tumor)
–Bony metastases
–Synthesis of parathyroid-related protein
(PTHrP)
-
Drugs
–Thiazide diuretics
–Lithium
–Vitamin A analogs
–Calcium supplements
–Alkali
-
Hypophosphatemia
-
Hyperthyroidism
-
Adrenal insufficiency
-
Pheochromocytoma
-
Renal failure
-
Williams syndrome
-
Juvenile rheumatoid arthritis
Workup and Diagnosis
- History
–Infant/young child: Constipation, anorexia, poor weight gain and/or poor linear growth
–Older child/adolescent: Anorexia, nausea, vomiting, abdominal pain, dyspepsia, constipation; polyuria, polydipsia; weakness; impaired ability to concentrate, altered consciousness (irritability, confusion, depressive symptoms, lethargy)
–All ages: Dietary intake, medications/supplements, family history of calcium disorders or neoplasms
-
Physical exam: Usually normal
-
Labs
–Total and ionized calcium, urinary calcium excretion
–Phosphorus
–Intact PTH, PTHrP
–T4, TSH
–Complete metabolic panel
–Vitamin D levels: 25-OH-vitamin D and 1,25-(OH)2vitamin D
–Evaluation of associated endocrine tumors (for MEN)
-
Studies
–ECG: Shortened QT interval
–Abdominal ultrasound: Nephrocalcinosis, renal calculi
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
HYPERCALCEMIA:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
A history of neoplasm or clinical evidence of bone disease should alert one to the possibility of metastatic neoplasm. Symptoms of polyuria, polydypsia, weakness, pathologic fracture, and weight loss should suggest hyperparathyroidism. Serial calcium, phosphorus, and alkaline phosphatase levels and serum PTH assay and skeletal survey should pin down the diagnosis of hyperparathyroidism and metastatic neoplasm. A bone scan will also be helpful in identifying metastasis. A cortisone suppression test will help differentiate hyperparathyroidism from metastasis. The serum calcium will not be lowered by cortisone in hyperparathyroidism.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
Calcium imbalance:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Confirming diagnosis A serum calcium level less than 8.5 mg/dl confirms hypocalcemia; a level more than 10.5 mg/dl confirms hypercalcemia. (However, because approximately one-half of serum calcium is bound to albumin, changes in serum protein must be considered when interpreting serum calcium levels. A common conversion formula is calcium corrected = calcium actual + 0.8 x [4.0 – albumin level]. Ionized calcium levels are 4.65 to 5.28 mg/dl and are a measure of the fraction of serum calcium in ionized form.)
The Sulkowitch urine test shows increased calcium precipitation in hypercalcemia. In hypocalcemia, an electrocardiogram (ECG) reveals lengthened QT interval, prolonged ST segment, and arrhythmias; in hypercalcemia, shortened QT interval and heart block. (See Diagnosing hypercalcemia, pages 916 and 917.)
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Calcium imbalance:
Diagnosis
(Handbook of Diseases)
A serum calcium level below 4.5 mEq/L confirms hypocalcemia; a level above 5.5 mEq/L confirms hypercalcemia. (However, because about half of serum calcium is bound to albumin, changes in serum protein must be considered when interpreting serum calcium levels.)
In patients with hypercalcemia, urine test results show an increase in urine calcium precipitation. In those with hypocalcemia, an electrocardiogram (ECG) reveals a lengthened QT interval, a prolonged ST segment, and arrhythmias; in those with hypercalcemia, an ECG reveals a shortened QT interval and heart block.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
HYPERCALCEMIA:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
A history of neoplasm or clinical evidence of bone disease should alert
one to the possibility of metastatic neoplasm. Symptoms of polyuria,
polydipsia, weakness, pathologic fracture, and weight loss should suggest
hyperparathyroidism. Serial calcium, phosphorus, and alkaline phosphatase
levels and serum PTH assay and skeletal survey should pin down the diagnosis
of hyperparathyroidism and metastatic neoplasm. A bone scan will also be
helpful in identifying metastasis. A cortisone suppression test will help
differentiate hyperparathyroidism from metastasis. The serum calcium will
not be lowered by cortisone in hyperparathyroidism.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
There have been many advances in improving the outcome of people living with cancer. Although, many people are living longer with their disease,...
Germs are a fact of life and catching an infectious disease like a cold may seem inevitable. But there are simple ways to protect yourself against...
Stress takes its toll by making us anxious, depressed and not able to function as fully as we'd like. What many don't know is that stress can...
Sleep is necessary to feel refreshed, but now we know sleep actually impacts the way the body functions. Sleeping poorly can affect how often you get...
See full list of 4 related videos
» Next page: Signs of Williams Syndrome
Rate This Website
What do you think about the features of this website?
Take our user survey and have your say:
Website User Survey
Medical Tools & Articles:
Next articles:
Tools & Services:
Medical Articles:
Forums & Message Boards
- Ask or answer a question at the Boards:
