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Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre Anderson G; Smith VV; Malone M; Sebire NJJ Clin Pathol 2005[Dec]; 58 (12): 1305-10BACKGROUND: A range of metabolic diseases can result in abnormal accumulation of metabolic byproducts, resulting in abnormal lymphocyte cytoplasmic vacuolation, identifiable on routine blood film examination. AIMS: This study retrospectively examines the usefulness of blood film examination for vacuolated lymphocytes in a specialist paediatric pathology department in relation to patient's age and presentation. It also describes specific diagnostic features in relation to specific classes of metabolic disease. METHODS: Retrospective review of a histopathology database to identify all blood films examined for the detection of vacuolated lymphocytes during a 15 year period (1989-2004). RESULTS: In total, 2,550 blood films were investigated. The median age at submission was 2 years (range, birth to 88), and>90% of samples were from children<18 years. The most common indications were developmental delay/regression, ataxia, seizures, and cardiomyopathy. Vacuolated lymphocytes were identified in 156 films (6.1%). The frequency of vacuolated lymphocytes varied with clinical presentation, with ophthalmic indications having the highest positive rate (40%). In cases with vacuolated lymphocytes, a wide range of underlying metabolic diagnoses was apparent, the most common being juvenile neuronal ceroid lipofuscinosis and acid maltase deficiency, which accounted for more than half of the diagnoses. CONCLUSIONS: The examination of blood films for lymphocyte vacuolation is clinically useful in patients with a history suggestive of metabolic disease. The test is cheap, rapid, minimally invasive, and provides first line screening, with some findings indicating clues to a specific underlying diagnosis.|Adolescent[MESH]|Adult[MESH]|Age Distribution[MESH]|Aged[MESH]|Aged, 80 and over[MESH]|Blood Specimen Collection/methods[MESH]|Child[MESH]|Child, Preschool[MESH]|Glycogen Storage Disease Type II/diagnosis[MESH]|Humans[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Lymphocytes/*ultrastructure[MESH]|Metabolism, Inborn Errors/*diagnosis[MESH]|Middle Aged[MESH]|Neuronal Ceroid-Lipofuscinoses/diagnosis[MESH]|Photomicrography[MESH]|Retrospective Studies[MESH]|Vacuoles/*ultrastructure[MESH] |
