Kaplowitz-Bodurtha Syndrome

At a glance

It is a very rare syndrome that results from a twinning abnormality with endocrine dysfunctions. It is characterized by hypopituitarism and microphthalmia.

Synonym

Hypopituitarism Microphthalmia Syndrome.

Incidence

Unknown.

Genetic inheritance

It is a very rare syndrome that occurs in monozygotic twins by loss of an X chromosome early in embryogenesis with complete separation of 45,X and 46,XX cell lineages at the time of the twinning event.

Clinical aspects

After intrauterine growth retardation, twins present with different physical appearance. Clinical features of the syndrome combine short stature with microphthalmos and endocrine dysfunction (hypothyroid, hypoglycemia, and hypothalamohypophysial axis anomalies). Micropenis and ectopic testes can be associated. Mosaicism is observed in peripheral blood, but not in skin fibroblast cultures (probably by anastomoses between the placentae of the twins).

Anesthetic considerations

No literature available. Careful intraoperative monitoring is needed. Evaluate endocrine function (clinical, laboratory, CT/MRI). Fasting should include a concomitant glucose infusion and frequent blood glucose measurements. Perioperative anesthetic management may need adaptation to endocrine function, particularly concerning adrenal function that could necessitate steroid stress dose and fluid regimen adaptation.

References