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Table 2 Atypical infantile-onset and juvenile-onset patients

From: The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

Patient ID Onset, diagnosis (Age) ERT start (Age) Biopsy site; time on ERT Pathology/% fibers with lipofuscin inclusions Clinical status (Current age)
D3* 5 mo 1 y, 4 mo VL†; 3 y, 10 mo Mild-to-moderate lysosomal expansion in most fibers; autophagic accumulation with inclusions in ~88% of fibers Relies on powerchair; feeds orally; surgery for chronic right hip dislocation and left hip subluxation; no pulmonary compromise (5 y)
1 y, 3 mo
CLINM 13 y 13.6 y Quad; 8 mo Normal biopsy Frequent low back pain; no difficulties in college gym classes (18.8 y)
  13.5 y     
HM1 4 mo‡ 3 y Quad; 6 y Prominent lysosomal expansion in ~30% of fibers; atrophy; autophagic accumulation with Inclusions in ~77% of fibers; ~15% of fibers are completely destroyed Wheelchair bound; respiratory failure; uses BiPAP at night; underwent several rounds of ITI due to high titer antibodies; progressive motor deterioration since 6 years of age (11 y)
4 mo
HM3 7 mo‡ 10 y Quad; 6 y Most fibers completely destroyed; extensive damage obscures underlying pathology Severe progressive lower limb muscle weakness; difficulty in walking and climbing stairs; non-compliance to ERT: stopped therapy for 6 months at age 14 y (18 y)
7 mo
HM5 5 y 6.5 y Quad; 7 y ~ 80% of fibers completely destroyed, autophagic accumulation with inclusions in the remaining fibers Motor deterioration; difficulty in walking and climbing stairs; uses BiPAP at night; respiratory failure; (14.5 y)
~5 y
NBSL9a§ 6.5 y 7 y Quad; baseline Mild-to-moderate lysosomal expansion; inclusions in almost every fiber Less endurance (10.7 y)
  6.5 y     
  1. *Diagnosed with atypical infantile form of Pompe disease (no cardiac involvement).
  2. †Vastus Lateralis.
  3. Examined because of abnormal liver function test noted during routine check-up.
  4. ‡Examined because of family history.
  5. §Older sibling of newborn screening patient NBSL9 (see Table 3); diagnosed during a family study.
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Acta Neuropathologica Communications

ISSN: 2051-5960

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