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.
