Zadik Barak Levin syndrome

Overview

Zadik Barak Levin Syndrome (ZBLS) is a congenital disorder in humans. Presenting conditions include primary hypothyroidism, cleft palate, hypodontia, and ectodermal dysplasia. It is the result of an embryonic defect in the mesodermal-ectodermal midline development. There are certain facial features common to people with Zadik Barak Levin syndrome, including a flattened nose, large forehead, and fewer teeth than normal.

Symptoms

  • Dermoid cysts
  • Abdominal swelling, fullness and pain
  • Hypothyroidism
  • Weakness
  • Cold intolerance
  • Decreased memory
  • Constipation
  • Muscle cramps
  • Hearing impairment
  • Depression
  • Hoarseness
  • Macroglossia
  • Absence of teeth
  • Facial deformity and abnormality
  • Cleft palate
  • Menstrual abnormalities

Causes

Hypothyroidism results from inadequate production of thyroid hormone — usually because of dysfunction of the thyroid gland due to surgery (thyroidectomy), irradiation therapy (particularly with 131I), inflammation, chronic autoimmune thyroiditis (Hashimoto’s disease) or, rarely, conditions such as amyloidosis and sarcoidosis. It may also result from pituitary failure to produce thyroid-stimulating hormone (TSH), hypothalamic failure to produce thyrotropin-releasing hormone, inborn errors of thyroid hormone synthesis, the inability to synthesize thyroid hormone because of iodine deficiency (usually dietary), or the use of antithyroid medications such as propylthiouracil. In patients with hypothyroidism, infection, exposure to cold, and sedatives may precipitate myxedema coma. Hypothyroidism is more prevalent in females than males, and frequency increases with age; in the United States, incidence is rising significantly in people ages 40 to 50.

Prevention

Treatment of myxedema coma requires supportive care:

  • Check frequently for signs of decreasing cardiac output such as falling urine output.
  • Monitor temperature until stable. Provide extra blankets and clothing and a warm room to compensate for hypothermia. Rapid rewarming may cause vasodilation and vascular collapse.
  • Record intake and output and daily weight. As treatment begins, urine output should increase and body weight decrease; if not, report this immediately. 
  • Turn the edematous bedridden patient every 2 hours, and provide skin care, particularly around bony prominences.
  • Avoid sedation when possible or reduce dosage because hypothyroidism delays metabolism of many drugs.

Diagnosis

Radioimmunoassay confirms hypothyroidism with low triiodothyronine (T3) and thyroxine (T4) levels.

Supportive laboratory findings include:

  • increased TSH level when hypothyroidism is due to thyroid insufficiency; decreased TSH level when hypothyroidism is due to hypothalamic or pituitary insufficiency
  • elevated levels of serum cholesterol, alkaline phosphatase, and triglycerides
  • normocytic normochromic anemia

In myxedema coma, laboratory tests may also show:

  • low serum sodium levels, decreased pH and increased partial pressure of carbon dioxide, indicating respiratory acidosis.

Prognosis

Not available

Treatment

Therapy for hypothyroidism consists of gradual thyroid replacement with levothyroxine (for low T4 levels) and, occasionally, liothyronine (for inadequate T3 levels). During myxedema coma, effective treatment supports vital functions while restoring euthyroidism. To support blood pressure and pulse rate, treatment includes I.V. administration of levothyroxine and hydrocortisone to correct possible pituitary or adrenal insufficiency. Hypoventilation requires oxygenation and respiratory support. Other supportive measures include fluid replacement and antibiotics for infection

Resources

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