Case#: Female, born at term via cesarean section. Birth weight was 3.850 (+0.93-SDS); length 50 cm (+0.2-SDS); cranial circumference: 36.8 cm (+1.1-SDS).
DiseaseAssertion: MPS-IH
FamilyInfo: Proband was born to unrelated parents.
CasePresentingHPOs: Congenital hip dysplasia (detected at 2 months), systolic murmur, hepatomegaly, macrocrania, coarse facial features, umbilical hernia, corneal clouding, mild thoracic and lumbar kyphosis (HP:0001385, HP:0031664, HP:0002240, HP:0000256, HP:0000256, HP:0001537, HP:0007957, HP:0002751)
CaseHPOFreeText: Frequent episodes of upper airway inflammation, neuro-motor delay, palpable liver, mitral dysplastic valve, thickened and prolapsing flaps with moderate mitral valve insufficiency. MRI of the brain showed dilated perivascular Virchow-Robin spaces, in the peritrigonal site bilaterally and in the corpus callosum, and a slightly dilated ventricular system in the supratentorial area. Slight tibial valgus. X-rays detected an altered coxo-femoral joint with lateralization of the femoral head.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: Enzymatic activity of IDUA was undetectable.
CaseUrineGAGs: An increased amount of heparan and dermatan sulfate.
CaseERT: Yes, began at 23 months. 100U/kg laronidase (Aldurazyme) weekly dose. The patient presented recurrent febrile infections and disease progression (appearance of cornea opalescence).
CaseBMT: Yes, UCB-HSCT & MUD-HSCT. First allo- HSCT from unrelated cord-blood-derived stem cells was at the age of 27 months. Six months later (33 months of age), she underwent a second HSCT from an HLA-matched unrelated donor. Normal IDUA activity was reported about 30 days post HSCT and progressively decreasing urinary GAG.
Variant1: c.152G>A (p.G51D)
Variant1ClinVarID: 193061
Variant1CAID: CA274902
Variant2: c.1598C>G (p.P533R)
Variant2ClinVarID: 11910
Variant2CAID: CA256112
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A