We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years.

Palmeri, S., Villanova, M., Malandrini, A., VAN DIGGELEN, O., Huijmans, G.M., Ceuterick, C., et al. (2000). Type I sialidosis: a clinical, biochemical and neuroradiological study. EUROPEAN NEUROLOGY, 43(2), 88-94 [10.1159/000008141].

Type I sialidosis: a clinical, biochemical and neuroradiological study

PALMERI, S.;MALANDRINI, A.;RUFA, A.;
2000-01-01

Abstract

We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years.
2000
Palmeri, S., Villanova, M., Malandrini, A., VAN DIGGELEN, O., Huijmans, G.M., Ceuterick, C., et al. (2000). Type I sialidosis: a clinical, biochemical and neuroradiological study. EUROPEAN NEUROLOGY, 43(2), 88-94 [10.1159/000008141].
File in questo prodotto:
File Dimensione Formato  
type I sialidosis.pdf

non disponibili

Tipologia: Post-print
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 527.26 kB
Formato Adobe PDF
527.26 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/38022
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo