Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension.
A patient with early infantile galactosialidosis presenting as congenital adrenal hyperplasia with clitoral hypertrophy and arterial hypertension is reported. Serum 17-alpha-OH-progesterone and plasma renin levels were elevated. Adrenal hyperplasia and thickening of the cardiac septum were detected by sonography; however, progressive hepatosplenomegaly, increasingly coarse features, and vacuolization of bone marrow and liver cells suggested a storage disorder. Combined deficiency of beta-galactosidase and sialidase enzyme activity in both lymphocytes and cultured fibroblasts was detected. This patient with early infantile galactosialidosis is the first reported who presented with congenital adrenal hyperplasia.
Adrenal Hyperplasia, Congenital↗