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disease patient was identifi ed by chance through his dermatologist due to partial alopecia. Through high CK (1,310 IU/L) and muscle/hepatic biomarkers (AST, 162 IU/L; ALT, 189 IU/L) a muscle biopsy was performed revealing vacuolated muscle pathology with H-E and PAS stains. A compound heterozygote pathogenic GAA genotype was detected (-32-13 T>G/ c.2560C>T). A series of clinical and laboratory evaluations identifi ed several abnormal clinical signs, despite the absence of clinical symptoms. As the patient had a positive DBS, diminished GAA activity in leukocytes (0.56 nml/h/mg protein – RV: 1.0–5.9), high urinary GLc4 levels on HPLC, abnormal FVC drop during sitting–supine transition (>14%), and abnormalities on his tongue and edema of his thighs, seen on MRI, the decision was taken to initiate enzymatic replacement therapy (ERT) with 20 mg/kg rhGAA (Myozyme®), even though no subjective clinical symptoms were present. After 4 years on ERT treatment and motor/respiratory rehabilitation programs, all clinical parameters worsened, especially CK levels, muscle MRI with an overall muscle substitution for fat with muscle mass volume reduction; and a higher FVC drop during sitting–supine transiti on (>18%) were noted. Based on these clinical and laboClinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings – Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease

Pompe disease (PD), a glycogen storage inborn error of metabolism (type II), is caused by the defi ciency of acid α-glucosidase (GAA); it can manifest itself in two forms: infantile onset (IPD) and late-onset (LOPD). Clinical presentation of this disorder is variable, depending on age at onset, level of organ involvement, progression rate, and genotype. PD is classifi ed as a glycogenosis; and, since individuals with this disorder excrete oligosaccharides in the urine, can be considered to be an oligosaccharidosis as well. Urinary tetraglucoside (Glc4), considered to be a biomarker of the disease, could be an auxiliary tool in screening for PD in suspected cases. Urine samples from 24 known patients with IPD (n = 15) and LOPD (n = 9), and normal controls (n = 215) were submitted to thin layer chromatography (TLC) analysis and high performance liquid chromatography (HPLC) quantifi Identifi cation and Quantifi cation of the Biomarker Glucose Tetrasaccharide Glc4 by Thin Layer Chromatography and High Performance Liquid Chromatography in Pompe Disease Patients