Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients.

Title

Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients.

Creator

Nardocci N; Verga ML; Binelli S; Zorzi G; Angelini L; Bugiani O

Publisher

American Journal Of Medical Genetics

Date

1995

Subject

Child; Female; Humans; Male; Adult; Follow-Up Studies; Longitudinal Studies; Magnetic Resonance Imaging; Time Factors; adolescent; Preschool; infant; Tomography; Age of Onset; Atrophy; Brain/pathology/radiography; Cerebellum/pathology; Neuronal Ceroid-Lipofuscinoses/diagnosis/physiopathology; X-Ray Computed

Description

We report on clinical, electrophysiological, neuroradiological, and morphological data from 19 patients with different types (late infantile, juvenile, and adult) of neuronal ceroid-lipofuscinosis (NCL), observed in the last 10 years at the Neurological Institute of Milan. Late Infantile NCL (LINCL) (8 patients, 4m/4f). Age at onset: 2-4 1/2 years. Seizures (6 patients) or decline of mental capacities (2 patients) were the presenting symptoms, followed by myoclonus and ataxia; visual loss and optic atrophy occurred in 6 patients within 3 years. All but 2 children became bedridden within 3 1/2 years. CT and MRI demonstrated different degrees of cerebral and cerebellar atrophy within 3 years from onset of the disease. Ultrastructural studies showed fingerprint profiles (FP) and osmiophilic bodies (OB) in circulating lymphocytes; curvilinear bodies (CB) and FP were detected in eccrine secretory cells. Juvenile NCL (JNCL) (7 patients, 4m/3f). Age at onset: 6-9 years. Visual loss with retinal degeneration was the presenting symptoms, accompanied in all but 2 patients by slight mental impairment. Seizures occurred within 2-4 years. CT and MRI detected cerebral or cerebellar atrophy in those patients (5 patients) with a clinical follow-up longer than 4 years. Electron microscopy showed FP on circulating lymphocytes, and both FP and CB on skin biopsy specimens. Adult NCL (ANCL) (4 patients, 3 m/1f). Age at onset: 12-50 years. Progressive myoclonus epilepsy (1 patient) or dementia with motor disturbances (3 patients) were the clinical phenotypes of the disease. MRI demonstrated cerebral and cerebellar atrophy within 6 years from onset. Electron microscopy disclosed FP in cytoplasmic vacuoles inside eccrine secretory cells.
1995

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

137-141

Issue

2

Volume

57

Citation

Nardocci N; Verga ML; Binelli S; Zorzi G; Angelini L; Bugiani O, “Neuronal ceroid-lipofuscinosis: A clinical and morphological study of 19 patients.,” Pediatric Palliative Care Library, accessed December 3, 2021, https://pedpalascnetlibrary.omeka.net/items/show/12332.

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