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Management of Mucopolysaccharidosis (MPS) and Related Diseases Table of Contents

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Management of Mucopolysaccharidosis (MPS) and Related Diseases Table of Contents Management of Mucopolysaccharidosis (MPS) and Related Diseases Table of Contents Introduction ..........................................................................................2 Medical overview ....................................................................................2 – Central nervous system (Neurology) ................................................2 – Vision....................................................................................................4 – Hearing ................................................................................................5 – Airway obstruction ..............................................................................6 – Heart ....................................................................................................9 – Carpal tunnel syndrome ..................................................................10 – Bowel problems ................................................................................11 The National MPS Society exists to find cures for – Liver and kidney................................................................................12 MPS and related diseases. We provide hope and – Hernia ................................................................................................12 support for affected individuals and their families through research, advocacy and awareness of – Dental issues ......................................................................................12 these devastating diseases. – Skeletal system (Orthopedics) ........................................................13 Miscellaneous issues ............................................................................14 – Physical therapy ................................................................................14 – Anesthetics ........................................................................................15 – Diet ....................................................................................................16 – Hyperactivity......................................................................................17 – Glossary ..............................................................................................18 Pictured on the cover: JACK (MPS II), LAUREN (MPS IV), ANDRE (ML) 2 measurement is another way to assess if hydrocephalus exists. If 3 Introduction your doctor confirms that communicating hydrocephalus is present, Management of MPS and related diseases consists of supportive care, it can be treated by the insertion of a thin tube (shunt), which drains treatment of complications and treatment of the MPS disease, if fluid from the brain into the abdomen (ventriculoperitoneal or available. Information about treatment options for specific MPS VP shunt).The shunt has a pressure-sensitive valve, which allows diseases can be found in MPS Society booklets dedicated to each spinal fluid to be drained into the abdomen when the pressure disease type. The progressive nature of organ involvement dictates the around the brain becomes too high. need for constant evaluation of clinical status. The goal of systematic Shunting of communicating hydrocephalus is believed to improve evaluation is to improve the quality of life for the individual and quality of life. It is suspected, but not proven, that hydrocephalus may family suffering from MPS and related diseases. This booklet is contribute to neurologic deterioration. Therefore, early detection organized based on a systems approach to clinical problems. No and treatment of hydrocephalus should be considered. one physician or medical care provider is able to deal with all the medical problems that can occur in an individual with MPS. Each An MRI scan should be performed system or subspecialty area will be presented as a section with a review routinely at diagnosis. Periodic MRI of the clinical features, diagnostic procedures that are available and scans to monitor for communicating management/treatment options. A glossary of common terms begins hydrocephalus should be performed on on page 18. all children with MPS. The frequency of imaging studies depends on the degree of neurologic involvement of each child Medical Overview and the results of the previous scan. For management purposes, it is important to Central nervous system (Neurology) keep in mind that children with greater CARLY (MPS IV) The brain and the spinal cord are protected from injury by the neurologic involvement have a higher risk cerebrospinal fluid that circulates around them. In individuals with for developing hydrocephalus. Progressive enlargement of the MPS, the circulation of the fluid over time may become blocked so ventricles and/or elevated cerebral spinal fluid (CSF) pressure are that it cannot be taken back into the blood- two criteria for considering shunting in individuals with MPS who Individuals with MPS often stream. The blockage (communicating are at risk for hydrocephalus. have an increased toler- hydrocephalus) causes increased pressure Hydrocephalus with elevated CSF pressure commonly occurs in ance of pain. It is not inside the head, which can press on the MPS I, MPS II, MPS VI and MPS VII and may be associated with unusual for an ear infection brain and cause headaches and possible some degree of cortical atrophy (loss of brain cells). Children with delayed development. Physical signs of or abscessed tooth to be MPS III routinely develop enlarged ventricles, but elevated CSF hydrocephalus may include decreased diagnosed in the absence pressure has never been documented. In MPS III, the enlarged consciousness, ataxia (unbalanced move- ventricles are believed to be due to cortical atrophy and not elevated of any outward signs of ments), headaches, vomiting and blindness. CSF pressure. However, Robertson et al, discomfort. Because the hydrocephalus that occurs in European Journal of Pediatrics, 157: 635, Seizures are a complication MPS develops very slowly over months to 1998, have reported that shunting in most common among years, the typical signs are not commonly seen or are assumed to be individuals with MPS III may decrease individuals with the severe due to the progressive brain involvement that occurs in MPS. The hyperactivity and aggressive behavior. lack of papilledema (swelling around the optic disk) does not rule forms of MPS. out hydrocephalus in individuals with MPS. Seizures are a complication most common among individuals with the severe forms of MPS. Seizures are If hydrocephalus is suspected, a magnetic resonance imaging (MRI) common in individuals with MPS III and may occur in up to one scan should be performed. A lumbar puncture with pressure half of these individuals, typically in the late stages of the diseases. 4 In MPS diseases, seizures are most likely secondary to the progressive loss of peripheral vision. Night blindness can result in an individual 5 brain damage that occurs due to the stored material. There are many not wanting to walk in a dark area at night or waking up at night effective medications to treat seizures, and the specific medication and being afraid. The addition of a night light in a hall or bedroom prescribed depends on the type of seizure experienced. Evaluation may be beneficial. by a neurologist is recommended to determine the best medication For individuals with significantly reduced vision due to corneal to use. An electroencephalogram may be needed to confirm the clouding, cornea transplantation has been performed. Cornea diagnosis of a seizure disease and aid your neurologist in selecting transplantation is usually beneficial, but poor vision may persist the best medication to control the seizures. In general, seizures that because of underlying involvement of the retina or optic nerve. occur in individuals with MPS are not difficult to control, but can It is usually very difficult for the ophthalmologist to visualize the be very alarming to parents. retina prior to surgery. If retinal degeneration and/or optic nerve Vision atrophy is present, even with a clear cornea, decreased vision may persist. Recurrence of corneal clouding in the transplanted cornea There may be problems with vision caused by changes to the retina has been reported in some individuals. The recurrence is believed due to glaucoma or due to corneal clouding. It is often difficult to to be due to GAG slowly diffusing into the cornea from the determine which combination of problems is responsible for the surrounding tissues. decrease in eyesight. An ophthalmologist (eye doctor) can perform special studies to help determine whether the problem is due to an Hearing effect on how light enters the eye (the cornea) or on how the eye Hearing loss (deafness) is common in all types of MPS diseases. responds to light (the retina or optic nerve disease). An initial Hearing loss may be conductive or sensorineural (nerve) deafness evaluation at the time of diagnosis and routine evaluations by a or both (mixed deafness) and may be made worse by frequent pediatric ophthalmologist are recommended for all individuals ear infections. Conductive hearing loss is an abnormality in the with MPS. conduction of sound, involving the middle ear bones, while Corneal clouding, glaucoma and retinal degeneration are common sensorineural hearing loss is a defect in the transmission of sound eye problems in MPS. The cornea (circular window at the front of along the nerve. the eye) can become cloudy due to storage of glycosaminoglycans (GAG), previously Conductive deafness called mucopolysaccharides, which
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