COMPLICATIONS

Hunter syndrome leads to various complications. These complications vary from eyes,
ears, respiratory system, cardiac system, skeletal abnormalities, gastrointestinal and to
neurological.
First complication is for the eyes. The degeneration of cone cells (retinal dysfunction) in
person with Hunter syndrome will cause vision damage or loss. Apart from that, cellular debris
buildup in brain, optic disc swelling, scleral thickening or elevated cerebrospinal fluid pressure
(intracranial pressure) lead to optic nerve compression. As the pressure increases, it can lead to
the nerve atrophy.
Secondly ear complications. Hunter syndrome also causes progressive hearing loss, both
conductive and sensorineural. Chronic otitis media and otosclerosis are the major factor for
conductive hearing loss in affected person. Meanwhile, the causes for sensorineural hearing loss
are not well established. However, there are evidences showing that in certain cases compression
of cochlear nerve and degeneration of hair cells lead to sensorineural hearing loss. This hearing
loss can lead to learning difficulty and behavioral problems in those affected.
Furthermore, respiratory system is also compromised in Hunter syndrome cases. The
affected person has enlarged tongue and thickened gum. Additionally, the affected person also
has narrowed trachea and bronchi, thick nasal and tracheal secretions. These factors cause
breathing difficulty. Obstructive sleep apnea is one common complication of Hunter syndrome
and this makes the person suffer from lack of sleep. Besides that, this syndrome causes tracheal
and bronchial walls weakness which eventually leads to acute airway obstruction or airway
collapse and thus difficulty in breathing. On the other hand, recurrent upper and lower
respiratory infections such as sinus infection and pneumonia in children are also the
complications from Hunter syndrome.
Progressive thickening of heart valves in person affected by Hunter syndrome causes the
valves to be incompetent. This leads to insufficient blood supply to body parts. As the disease
progresses, it causes right and left ventricular hypertrophy which eventually lead to heart failure.
Moreover, tissue thickening which narrows aorta and other blood vessels becomes a major
source for high blood pressure and pulmonary hypertension in those with Hunter syndrome.
Skeletal and connective tissues are also affected in people with this syndrome.
Glycosaminoglycans build up in the tissues cause abnormalities of bones, joints and ligaments.
These result in physical malformation. It also causes joint stiffness which results in difficulty in
moving and pain while moving. So, the movements of an affected person are limited. The
abnormalities in the development of skeletal cartilages and bones are known as dysostosis
multiplex. Abnormally formed skull, vertebrae, spines, ribs arms, hip bones and leg are few
examples of dysostosis multiplex in people with Hunter syndrome. These factors reduce growth
of affected children and thus they will have short stature.
Hunter syndrome also causes gastrointestinal problems (abdominal). Excess
glycosaminoglycans storage takes place in liver and spleen cells. This excess storage leads to
spleen and liver enlargement (hepatosplenomegaly). Consequently, this results in increased
abdominal pressure resulting abdominal distension or hernia.
study of 96 patients with attenuated Hunter syndrome between 5 and 31 years of age,
hepatomegaly (as determined by abdominal MRI) was present in 76% of study participants,
whereas the majority of patients had normal spleen volume. Other studies have reported a
prevalence between of 57% and 90% of an enlarged liver or spleen.
[1]

There are neurological complications too from Hunter syndrome. First of all, Carpal
tunnel syndrome is common is children with Hunter syndrome. This is a result of median nerve
compression due to excessive pressure from deformed bones and excessive glycosaminoglycan
buildup in tissues. Those with Carpal tunnel syndrome will have numbness, muscle weakness
and damage in hands and fingers. On the other hand, narrowing of the spinal canal or instability
of atlantoaxial joint causes spinal compression. This leads to more complications like abnormal
gait and bladder dysfunction.
In the brain, glycosaminoglycan buildup in the neurons results in delayed mental
development and mental retardation. Additionally, it causes progressive neurodegeneration.
These lead to impaired cognitive abilities such as short attention span and reduced reasoning.
Meanwhile, seizures are seen in people severely affected by Hunter syndrome; commonly
generalized tonic-clonic seizure.
However, the most dreadful complication of Hunter syndrome is death. This syndrome
causes death in severely affected people due to pulmonary disease, cardiac disease and
neurologic problems or combination of these problems.
Historically, the cause of death listed on the death certificate is often pneumonia, but severe
neurologic impairment and a cachexic state, as a result of an inability to eat, are contributing
factors.
[2]


1. Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
http://pediatrics.aappublications.org/content/121/2/e377.full
2. Multidisciplinary Management of Hunter Syndrome
http://pediatrics.aappublications.org/content/124/6/e1228.full