Cerebral fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile G(M1) gangliosidosis.

The clinical, biochemical, pathological and neuroradiological findings of a 2-year-old Saudi boy with infantile G(M1) gangliosidosis are reported. The patient had a progressive neurologic deterioration, manifesting with developmental regression, sensorimotor and psychointellectual dysfunction and generalized spasticity that started at 4 months of age. Cherry-red macula, facial dysmorphia, hepatomegaly, exaggerated startle response to sounds, skeletal dysplasia, and vacuolated foamy lymphocytes that contain finely fibrillar material in addition to lamellar membranes and electron-dense rounded bodies were seen. MRI of the brain demonstrated mild diffuse brain atrophy and features of delayed dysmyelination and demyelination. Brain FDG PET scan revealed a mild decrease in the basal ganglia uptake, and moderate to severe decrease in thalamic and visual cortex uptake, and an area of increased glucose uptake in the left frontal lobe, probably representing an active seizure focus. The functional changes indicated by FDG PET scan and the structural abnormalities shown on MRI were found to be complementary in the imaging evaluation of infantile G(M1) gangliosidosis.

Bone marrow morphologic findings in patients with human immunodeficiency virus (HIV) infection.

The hematologic, histologic and morphologic bone marrow findings of 18 patients with human immunodeficiency virus (HIV) infection were reviewed. The mean age of the patients studied was 27 years; age range was six to 63 years. The main bone marrow morphologic finding was hypercellularity (72%), which was mainly due to megakaryocytic hyperplasia with or without granulocytic or erythrocytic hyperplasia. Naked (denuded) megakaryocytic nuclei, which are considered an indicator of HIV infection, were present in 72% of the bone marrows examined. Reticuloendothelial iron blockade was identified in 78% of cases. Other less frequent findings included erythrocytic dysplasia (44%), plasmacytosis (28%), nonspecific granulomas (17%), Hodgkin's and non-Hodgkin's lymphoma (17%), lymphocytic aggregates (11%) and histiocytosis (6%) . The bone marrow findings in this series of HIV patients appear to be similar to what has been previously reported from other countries.