Management

Due to the rarity of cases, specific management or surveillance guidelines have not been formulated. It is reasonable to provide developmental assessments and services, together with specialist care for all of the clinical manifestations. Hair examination with microscopy may be helpful for diagnosis. Monitoring of growth parameters, a brain magnetic resonance imaging (MRI) scan and a renal ultrasound can be considered. Evaluation of the pituitary, thyroid and gonadal axes and immunoglobulins could also be proposed.