Multiple sulfatase deficiency
Type of disease: Rare conditions
Multiple sulfatase deficiency or Austin’s disease is a rare inherited lysosomal disorder (See: Lysosomal disorders) that primarily affects the brain, skin, and skeleton. This condition can be broken into three subtypes based on the age of onset: neonatal, late-infantile, and juvenile.
Neonatal is the most severe form and symptoms appear shortly after birth or within the first month of life. It is characterized by deterioration of the nervous system (leukodystrophy), developmental delays, dry skin (ichthyosis), excessive hair growth (hypertrichosis), an abnormally curved spine (scoliosis) and other bony differences seen on x-rays, hearing loss, and heart problems. The late-infantile form is the most common form. Typically in the late-infantile form, the child expresses normal cognitive development early in life, but will progressively lose mental abilities and motor development. The child may also have ichthyosis, skeletal abnormalities, and coarse facial features. The juvenile form is the most rare form with onset occurring in mid-late childhood. Again, early mental development is normal but progressively worsens over time though slower than in other forms. Ichthyosis of the skin is common. In all forms of multiple sulfatase deficiency, life expectancy is shortened but is variable depending upon how quickly the symptoms worsen. There is no cure, but research is underway and treatment is based on symptoms.
Multiple sulfatase deficiency is inherited or passed through families in an autosomal recessive manner. This means that two copies of the changed gene are needed to produce the symptoms. In recessive conditions, each parent is an unaffected carrier of one genetic change. Each child born to two carriers has a 25% chance of being affected. A genetic counselor can be helpful in providing a better understanding of the inheritance and risks to future pregnancies.