A 7-month-old boy presented with echocardiographic findings of hypertrophic cardiomyopathy. A provisional diagnosis of Pompe disease was made. The patient had an increased CPK level and severe hypotonia. However, other clinical findings were not suggestive of Pompe disease . The patient was the second-born child of parents who were first cousins .
He was delivered via an uneventful vaginal delivery. He suffered from recurrent chest infections and had to be hospitalized several times. Echocardiography performed during the course of the hospital stay suggested hypertrophic cardiomyopathy. His family history was unremarkable. Examination Weight: 3.8 kg Length: 61 cm Skull circumference: 37 cm Oculocutaneous albinism Micrognathia Sparse scalp hair High-arched palate Neurologic examination: Global developmental delay Generalized hypotonia Decreased deep tendon reflexes Preserved superficial…
