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Biomedical subjects

E Del Giudice

Publications and source records attributed to E Del Giudice.

44 records · Page 3Linked to original sources

Atypical aspects of hypertensive encephalopathy in childhood.

Four patients with hypertensive encephalopathy and misleading focal symptomatology are reported in order to point out the problems of differential diagnosis. The first patient, together with a classical syndrome of hypertensive encephalopathy, had peculiar EEG features consistent with a possible diagnosis of herpes simplex encephalitis. Case 2 presented with a complex clinical syndrome associating bizarre spells suggestive of a psychiatric condition with ocular symptoms pointing to an upper brain stem involvement. The third child was remarkable because of the presence of neuroradiological signs compatible with a space-occupying lesion of the posterior fossa not eventually found after a surgical exploration performed as an emergency procedure. The last patient had central nervous system signs in the context of a Guillain-Barré syndrome: in this case the central symptomatology would not fit the already described pattern of encephalomyelo-radiculo-neuropathy but had to be entirely ascribed to the ill controlled arterial hypertension.

Adolescent↗

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.

Clinical heterogeneity for Sanfilippo B syndrome (MPS III B) in the same family has never been reported previously. We describe two clinically severe cases and one clinically mild case of MPS III B in a Neapolitan sibship. We could not detect N-acetyl-alpha-D-glucosaminidase activity in the sera of either the severe or mild cases. Mucopolysacchariduria mainly due to heparan sulfate excretion was consistently high in the severely affected patients and extremely variable in the mildly affected one.

Abnormalities, Multiple↗

Atypical expression of beta-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities.

A 28-month-old child was found to have several clinical features of lysosomal storage diseases, including: coarse facies, hepatosplenomegaly, lumbar kyphosis due to hypoplastic beaked L1 and L2 vertebral bodies, vacuolated lymphocytes in blood smears and rare foamy hystiocytes in bone marrow. However, no signs of neurological or ocular abnormalities were detected. A beta-galactosidase deficiency was demonstrated in leukocytes and cultured skin fibroblasts, with a residual activity toward 4-methylumbelliferyl-beta-galactopyranoside ranging between 5 and 15% of the normal mean. Normal activities were found for several other lysosomal acid hydrolases. beta-Galactosidase activities in leukocytes and cultured skin fibroblasts from both parents were within the normal ranges. The patient seems to represent an atypical expression of acid beta-galactosidase deficiency, since his clinical picture does not exaclty correspond to that of either the two classical types of GM1-gangliosidosis or other atypical patients reported in the literature havining beta-galactosidase deficiency.

Eye Abnormalities↗