Neurogenic oropharyngeal dysphagia in patients with neuronal ceroid lipofuscinoses

Background: Neuronal Ceroid Lipofuscinoses (NCL) is a neurodegenerative condition of lysosomal metabolism due to accumulation of lipofuscin in neurons. The predominant symptoms are motor and cognitive regression, seizures, ataxia and retinopathy. Speech-language disorders such as dysarthria, aphasia and dysphagia have been reported.

Objective: To describe the degree of oropharyngeal dysphagia and feeding and breathing route in patients diagnosed with NCL assisted at a referral hospital for rare diseases in Salvador-BA.

Methods: Descriptive, cross-sectional and retrospective study by reviewing medical records evaluated between 2017 and 2022. Inclusion criteria were diagnosis of NCL confirmed by genetic and/or biochemical examination. The results were tabulated in an Excel® spreadsheet The variables were age, age at diagnosis, type of NCL, degree of dysphagia, feeding and breathing route. The diagnosis of dysphagia was based on the protocols used in the service.

Results: Seven patients aged between 4 and 19 years were selected. The NCL types identified in the sample were 1, 2, 3, 6 and 7. Types 1 and 2 corresponded to 28.5% of cases each and types 4, 6 and 7 to 14.3% each. The age at diagnosis was between 4 and 14 years; 6 (86%) had a diagnosis of dysphagia and 1 had no diagnosis described. The degree of dysphagia ranged moderate to severe in 28,5% and severe in 57%. Gastrostomy was indicated in 57% of patients and tracheostomy in 14,3%. A prospective evaluation was carried out in two individuals, the patient with NCL 7 had a rapid evolution of the degree of dysphagia from mild to severe in just 9 months after diagnosis requiring gastrostomy. The second patient in follow-up was diagnosed with NCL 2 and treated on enzyme replacement therapy, he remained with stable moderate to severe dysphagia and an exclusive oral diet.

Conclusions: Most of the individuals analyzed evolved with the diagnosis of moderate to severe dysphagia and more than half required gastrostomy, it is in agreement with the literature. However, treatment with enzyme replacement can lead to stability.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023