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Sanfilippo syndrome

Sanfillipo syndrome is a lysosomal storage disorder resulting from a deficiency in the lysosomal enzyme heparan-N-sulfatase. more...

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The enzyme performs a crucial step in the breakdown of the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. Although undegraded heparan sulfate is the primary stored substrate, glycolipids such as gangliosides are also stored despite no genetic defect in the enzymes associated with their breakdown.

MPS-III A has an incidence of approximately 1 in 115 000 live births. Higher rates are found in certain populations such as the Ashkenazi jews. It is a rare disease.

Natural History and Diagnosis

It should be noted that MPS-III A, B, C and D are considered to be clinically indistinguishable, although mutations in different genes are responsible for each disease. The following discussion is therefore applicable to all four conditions.

The disease manifests in young children. Affected infants are apparently normal, although some mild facial dysmorphism may be noticeable. The stiff joints, hirsuitism and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease. The child often develops normally initially. Acquisition of speech is often slow and incomplete. The disease then progresses to increasing behavioural disturbance including temper tantrums, hyperactivity, destructiveness, aggressive behaviour, pica and sleep disturbance. As affected children have normal muscle strength and mobility, the behavioural disturbances are very difficult to manage. The disordered sleep in particular presents a significant problem to carers. In the final phase of the illness, children become increasingly immobile and unresponsive, often require wheelchairs, and develop swallowing difficulties and seizures. Death eventually results from inanition. The life-span of an affected child does not usually extend beyond late teens to early twenties.

Although the clinical features of the disease are mainly neurological, patients may also develop diarrhoea, carious teeth, and an enlarged liver and spleen. There is a broad range of clinical severity. The disease may very rarely present later in life as a psychotic episode.

The diagnosis may be confirmed by assay of enzyme levels in tissue samples and gene sequencing. Prenatal diagnosis is possible.

Treatment

Treatment remains largely supportive. The behavioural disturbances of MPS-III respond poorly to medication. If an early diagnsosis is made, bone marrow replacement may be beneficial. Although the missing enzyme can be manufactured and given intravenously, it cannot penetrate the blood-brain barrier and therefore cannot treat the neurological manifestations of the disease.

Along with many other lysosomal storage diseases, MPS-III exists as a model of a monogenetic disease involving the central nervous system. Several promising therapies are in development. Gene therapy is under investigation for MPS-III in animal models. Other potential therapies include chemical modification of deficient enzymes to allow them to penetrate the brain blood-brain barrier, stabilisation of abnormal but active enzyme to prevent its degradation, and implantation of stem cells strongly expressing the missing enzyme. For any future treatment to be successful, it must be administered as early as possible. Currently MPS-III is mainly diagnosed clinically, by which stage it is probably too late for any treatment to be very effective. Neonatal screening programs would provide the earliest possible diagnosis.

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Boy takes biggest step on road to halting deadly syndrome
From Gazette, The (Colorado Springs), 12/11/02 by CARY LEIDER VOGRIN

Doug and Tracie Nicoll had two reasons to celebrate Tuesday: Their 2 1/2-year-old son, Douglas, was finally admitted to a North Carolina hospital for a procedure that could save his life, and their other son, Cameron, celebrated his first birthday.

Both Colorado Springs boys, who suffer from a rare genetic disease called Sanfilippo syndrome, have been in Durham, N.C., since mid- October. Their parents sought help from Duke University Medical Center - the only place that offered them hope for their sons.

The boys are missing a crucial enzyme that breaks down sugar molecules, called mucopolysaccharides. Without the enzyme, their bodies are storing the molecules, and the slow buildup is causing irreversible damage to the brain and other organs. The syndrome affects 1 in 70,000, and death usually comes by the midteens.

The Nicolls and a handful of other families with Sanfilippo children are optimistic the transplant procedure - nine days of chemotherapy followed by an infusion of stem cells from umbilical cord blood - will stop the disease from progressing.

Douglas was admitted to the children's transplant ward Tuesday afternoon; he is scheduled to begin chemotherapy this morning.

"He's in Room 5209 - my lucky number. It's gotta be, right? Those are my lucky numbers now," said Doug Nicoll, 36.

"We couldn't wait to get on (the ward), and now we're on there. It's exciting, yet we're scared to death."

The chemotherapy, which will cause hair loss, swelling and mouth sores, is the most dangerous part of the procedure.

Both boys were supposed to be admitted in late November, but there were no beds available on the children's ward. Doug Nicoll said he doesn't know when Cameron, who spent much of his first birthday in his brother's hospital room, will get a room.

Douglas and Cameron will spend up to two months in the hospital after receiving transplants.

The Nicolls, like other Sanfilippo families at Duke, have a Web site (www.caringbridge.com/co/nicollbrothers) where people can post messages to the family and get updates about the boys. People throughout the Pikes Peak region have been following the family's story.

The Web site has been uplifting, Doug Nicoll said.

"It's what keeps us going - to see all the wonderful remarks from people who sign the guest book and wish us well," he said. "It's our highlight to go and read that."

CONTACT THE WRITER: 636-0236 or cary@gazette.com

Copyright 2002
Provided by ProQuest Information and Learning Company. All rights Reserved.

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