The patient
Case1: Female, 7 years report, 5 months diagnosis, Hispanic
CasePresentingHPOs: HP:0001639, HP:0004755, HP:0001714, HP:0002878, HP:0001635, HP:0002719, HP:0011968, HP:0001508, HP:0003236, HP:0002014, HP:0002583, HP:0100806, HP:0004302, HP:0011344, HP:0004887, HP:0001252, HP:0000508, HP:0000938, HP:0001371, HP:0011471, HP:0001250, HP:0025401, HP:0007738, HP:0000980 (Hypertrophic cardiomyopathy, Supraventricular tachycardia, Ventricular hypertrophy, Respiratory failure, Cardiac failure, Recurrent infections, Feeding difficulties, Failure to thrive, Increased serum CK, Diarrhea, Colitis, Sepsis, Functional motor deficit, Severe global developmental delay, Respiratory failure requiring assisted ventilation, Muscular hypotonia, Ptosis, Osteopenia, Contracture, Gastrostomy tube feeding in infancy, Seizures, Staring gaze, Uncontrolled eye movements, Pallor)
HPOsFreeText: Elevated Glc4 urine levels present, She was antibody negative to rhGAA, Initially she tolerated ERT and ITI however complications occurred midway through the second round, Tracheostomy since age 7 months required, By about age 5 years, she communicated primarily via nonverbal means, gesturing with her right hand, and to a minimal extent, with closure of her eyes and movements of mouth, After degrading severely she was started on IVIG which led to a drop in antibody titers and improvement in her health over time
CaseNotHPOs: HP:0002721 (Immunodeficiency)
NotHPOsFreeText: N/A
CaseAddInfo: CRIM-negative Infantile-Onset Pompe Disease diagnosed by muscle biopsy followed by GAA mutation analysis