Primordial bird-head nanism associated with
progressive ataxia and multiple endocrinopathies.
Only two siblings from
nonconsanguineous Norwegian parents have been described.
At the time of description, the older individual
was a 26-year-old man; his sister was 16 years old. Both had dwarfism and a
characteristic bird-like facies. The two siblings were mentally retarded and
suffered from progressive ataxia and epilepsy. Multiple endocrinopathies
included goiter, primary gonadal insufficiency, and insulin-resistant
diabetes mellitus. Thyroid-stimulating hormone was elevated in one, but both
were clinically euthyroid. Age at onset of diabetes mellitus in the male was
16 years; the girl was not diabetic at the time of description. Parathyroid
hormone, luteinizing hormone, follicle-stimulating hormone, and
adrenocorticotropic hormone levels were elevated.
Assessment of the endocrinologic status
is most important prior to anesthesia. Hypothyroidism should be treated
prior to surgery. Diabetes mellitus should be optimized if necessary.
Adrenal insufficiency should be suspected and, depending on the extent of
the procedure, a stress dose of steroids should be considered. Relative
resistance not only to insulin, but also to other external hormones might be
expected. Depending on the extent of the facial abnormalities, airway
management may be difficult.
Bangstad H-J, Beck-Nielsen H, Hother-Nielsen O, et al: Primordial
bird-head nanism associated with progressive ataxia, early onset
insulin-resistant diabetes, goiter, and primary gonadal insufficiency. Acta Paediatr Scand