Case history

Case history #1

An asymptomatic 32-year-old man is investigated for excessive and spontaneous bruising. He is found to have thrombocytopenia (platelets 42 x 10⁹/L). He is of Ashkenazi Jewish origin but there is no significant family history. He has occasional symptoms of pain in the lower back and around the knee joints. He is otherwise well. There is no history of cognitive impairment and he has a professional qualification. On examination he is pale and has a few bruises on his limbs. He has a markedly enlarged spleen. There are no signs of chronic liver disease. He is suspected to have a hematologic malignancy and undergoes bone marrow examination. The diagnosis of type 1 Gaucher disease is made and treatment with enzyme replacement therapy is commenced. His general clinical condition improves, his spleen size is reduced, and his platelet count returns to normal over a 5-year period. However, he has developed significant skeletal problems that respond incompletely to treatment.

Case history #2

A 16-year-old boy presents with a skin rash. Raised red spots have been noted around his upper lip for a few months. Similar spots are present around the umbilicus and at the tops of the thighs. He also has a long history of pain in the hands and feet, typically occurring after exercise and described as "burning." He has noticed difficulty in sweating. He is intolerant of heat and exercise, which induce and aggravate his limb pains. He reports swelling of his lower limbs. He also has a long history of cramping abdominal pain with diarrhea; as a child these abdominal pains were associated with headache and often caused him to miss school, such that he was labeled as having "abdominal migraine." He suffered an episode of sudden deafness at the age of 11 years. His mother's brother died of renal failure age 42 years; his mother died of a stroke age 61 years. Examination confirms the skin rash. He has bilateral high tone deafness. Cardiac examination, ECG, and echocardiogram are normal but his left ventricular size is at the upper limit of normal. He has 2+ proteinuria but renal function is normal. Diagnosis is Fabry disease.

Other presentations

Clinical manifestations of lysosomal storage diseases are diverse; presentation may be in childhood or in adult life.

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