8/13/2019 Zuriat Case Summary

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Zuriat Case Summary

By Prof. Zabidi Hussin

MM is a 21 yrs old lady youngest of 5 children and the only survivor in her family. All 5children in this family has Juvenile Onset Metachromatic Leukodystrphy (a fataldegenerative white matter disorder)

Diagnosis on was first made on MMseldest sister at age 9 yrs old when she presentedwith psychiatric symptoms. Subsequently the second child, at age 9 yrs, developed

unsteadiness. MRI showed the same disease as her sister (eldest). At that time other 3

siblings were asymptomatic

Blood and urinary analysis were done on all family members in Australia with help of anexternal examiner who volunteered to bring specimens to Australian center. No other

centers in the South Asian region offer the test. The disease was confirmed in all 5

siblings, including the 3 who were asymptomatic. Symptoms usually appear at 9yrs andrapidly degenerate. Death usually occurs within 5 years.

Literature review brought into picture experimental therapies in USA for asymptomaticcases. Bone Marrow Transplant (BMT) has been tried with varying success. At that time

MM was 6 yrs old, elder symptomatic siblings were 7 and 8 yrs respectively. The

challenge was for the 6 and 7 yrs old (MM and her older brother) to undergo an

experimental therapy. The other child went on to develop the symptoms at 9yrs and

died at 15 yrs old.

Malaysian Medical Board disapproved therapy due to the expensive cost. Malaysianpublic was made aware of plight of children. Massive media campaign was launched toget donation.

Workup for BMT was done, but no matching donors were found. The closest potentialdonor was a 4 of 6 matched HLA in Australian Stem Cell Bank.

18 months were lost trying to justify funding to USA and convincing Malaysiangovernment to provide funding. But the campaign was successful.

MM and elder sibling were sent to USA in 1996 for matched-unrelated BMT, anexperimental procedure with high risk. MMs sibling (older brother) died post BMT from

fungal infection. MM stayed in USA for 6 months, returned home with severe graft

versus host disease but survived all complications.

MM is currently disease-free but has cataracts (intraocular lenses), neural deafness(hearing aid), has not achieved puberty at 21 yrs, has secondary ovarian failure and

chronic lung disease with occasional break through infections.

MM now in college studying culinary studies and due to graduate in 6 months. She isfully cured from MLD