case of a 34-year-old male patient
Case#: Male, 7 years old (age of onset), 34 years old (age at report), Venezuelan
DiseaseAssertion: MPS1-S
FamilyInfo: First son of a healthy non-consanguineous parents; unremarkable family history
CasePresentingHPOs: Joint stiffness, claw hand deformity, muscle weakness, myalgia, arthralgia, blurred vision, corneal clouding, umbilical hernia, coarse facial features, prominent forehead, synophrys, anteverted nose, bulbous nose, short columella, thick lips, short neck, thick skin (HP:0001387, HP:0034337, HP:0001324, HP:0003326, HP:0002829, HP:0000622, HP:0007957, HP:0001537, HP:0000256, HP:0011220, HP:0000664, HP:0000463, HP:0000414, HP:0002000,HP:0000219, HP:0000470, HP:0001072)
CaseHPOFreeText: Frequent falls and at 26 years old his weight was 51.5 kg (3rd percentile), height of 159 cm (<3rd percentile), head circumference of 57 cm (30-75th percentile). He had down-slating palpebral fissures, a symmetric chest and his abdomen was without organomegaly. He had limited joint movements of the upper limbs as well. His mental development was normal.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: Decreased activity of alpa-L-iduronidase in leukocytes: 0.01 nmol/min/mg (reference value 0.31 to 0.71 nmol/min/mg. Dried blood spot on filter paper: 0.8 umol/l/h (reference value >2.5 umol/lh).
CaseUrineGAGs: Electrophoretic urinary GAGs showed one band corresponding to the migration of dermatan sulfate.
CaseERT: N/A
CaseBMT: N/A
Variant1: c.1190-1delG
Variant1ClinVarID: 2734639
Variant1CAID: CA2586965967
Variant2: c.1708G>C (p.D570H)
Variant2ClinVarID: 551300
Variant2CAID: CA355965252
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A