Multiple Sulfatase Deficiency , Graham Tierney

Dylan

Most days are happy days. Dylan's eyesight is very poor, but his hearing is excellent. He loves music, and this is what makes him happy along with kisses and cuddles of course.

~Alan, Dylan’s Dad

Multiple Sulfatase Deficiency
Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.

The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system, which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin and excess hair growth. Skeletal abnormalities can include abnormal side-to-side curvature of the spine, joint stiffness, and dysostosis multiplex, which refers to a specific pattern of skeletal abnormalities seen on x-ray. Individuals with the neonatal type typically have facial features that can be described as "coarse." Affected individuals may also have hearing loss, heart malformations, and an enlarged liver and spleen. Many of the signs and symptoms of neonatal multiple sulfatase deficiency worsen over time.

Artist: Graham Tierney

Exhibited by:

Beyond the Diagnosis

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