Table 31Treatment benefits and harms for fucosidosis and α-mannosidosis

DiseaseTreatmentSource, Evidence TypeIndicationsClinical BenefitsClinical Harms
FucosidosisAllogeneic HSCTPeters 2004,270
literature review
-

recommended only for pre-symptomatic pts with an early diagnosis, before central nervous system starts to deteriorate

-

enzyme activity detected in cerebrospinal fluid 1 yr post HSCT, indicating enzyme has reached central nervous systema

-

myelination proceeding, though delayed compared to expected for age of pta

-

able to function in slightly low average range, sociable, happy, engaged at 1 yr posta

-

progressive rise in enzyme levels, peaking at 30 months post HSCTb

-

slight improvement in white matter myelination at 13 months post, more evident improvement by 24 months post, good myelination by 32 months post, near normal by 38-46 months postb

-

complications: graft vs. host disease, transient episode of idiopathic thrombocytopenic purpura, and repeated sepsis from central venous catheterb

-

moderately severe graft vs. host diseaseb

Heese 2008,325
literature review
α-MannosidosisAllogeneic HSCTPeters 2004,270
literature review
-

recommended for all pts with severe Type I form prior to onset of significant symptoms

-

recommended for Type II pts if early neurocognitive deficits present

-

hepatosplenomegaly resolved within 1 mo postc,d

-

bony abnormalities improved significantly in skull, thoracolumbar spine, and handsc

-

trabeculation of long and short bones normalizedc

-

2 of 3 pts with hearing deficits improved to near normal frequency range, except high frequency difficulties persisted, by 2 yrs postd

-

neuropsychologic testing shows stabilizationc or improvementd of neuropsychologic symptoms

-

improvement in expressive speech at 3 yrs post in symptomatic pte

-

overall normal development at 6 yrs post in asymptomatic pt; attends mainstream schoole

-

acute GVHDc,d

-

graft vs. host disease led to obliterative bronchiolitise

Heese 2008,325
literature review
a

Vellodi et al. 1995,327 case report, fucosidosis pt, 1 yr post HSCT

b

Miano et al. 2001,326 case report, fucosidosis pt, 4 yrs post HSCT

c

Wall et al. 1998,328 case report, α-mannosidosis pt, 15 months post HSCT

d

Grewal et al. 2004329, case series, 3 pediatric 1 adult α-mannosidosis pts, 1-6 yrs post HSCT

e

Broomfield et al. 2010,330 comparison of 2 α-mannosidosis siblings, 1 late transplant to relieve symptoms, 1 presymptomatic transplant, 3-6 yrs post HSC

From: Narrative Reviews

Cover of Hematopoietic Stem-Cell Transplantation in the Pediatric Population
Hematopoietic Stem-Cell Transplantation in the Pediatric Population [Internet].
Comparative Effectiveness Reviews, No. 48.
Ratko TA, Belinson SE, Brown HM, et al.

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