A Case of Short Stature and Severe Osteoporosis in a Young Man with Oculocutaneous Albinism: Syndrome or Coincidence?

Abstract

Oculocutaneous albinism (OCA) is a rare autosomal recessive congenital condition characterized by reduced or absent production of the pigment melanin by melanocytes. The affected individuals have increased susceptibility to sunburn and skin cancers. Osteoporosis is a disease entity characterized by the progressive loss of bone mineral density and the deterioration of bone micro-architecture, leading to an increased risk of developing low-trauma fractures. There are many causes of osteoporosis, ranging from primary to secondary causes. Short stature is defined as height less than two standard deviations below the age-specific and gender-specific mean (less than the 2.5th percentile). There have been rare case reports of individuals with OCA having associated osteoporosis or low bone mineral density and short stature. These cases have also been associated with severe skeletal, neurological, and psychomotor disabilities. This paper presents a case of a young man with OCA and short stature who sustained a low-trauma intertrochanteric fracture to his femur bone and was subsequently diagnosed to have clinically significant osteoporosis. This case report while attempting to review the literature also emphasizes the importance of further research into the prevalence of these clinical features accompanying certain types of OCA and whether they are part of a single syndrome or just coincidental findings.

Keywords: albinism; case report; growth hormone therapy; idiopathic short stature; insulin-like growth factor 1; low-trauma fractures; oculocutaneous hypopigmentation; osteoporosis; syndrome or coincidence; syndromic albinism.

Figure 1. Radiograph showing an intertrochanteric non-displaced fracture (arrows) of the neck of the right femur bone prior to fixation

Figure 2. A growth chart showing the height (dotted circles) and weight (crosses) for the patient during 2-9 years of age and 9-18 years of age

Source: UK-WHO growth charts (2-18 years) from the Royal College of Paediatrics and Child Health

Figure 3. Radiograph of the left and right hands demonstrating epiphyseal closure plates (arrows) indicating full skeletal maturity

Figure 4. A magnetic resonance imaging (MRI) scan demonstrating a normal pituitary gland (arrow)