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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: report of two cases
Joanisson Rubens Gomes Diniz1, Katie Moraes de Almondes2, Clécio Godeiro3
1Hospital Geral de Fortaleza, Fortaleza CE, Brazil.
Insights
Nasu-Hakola disease, a rare genetic disorder, causes progressive pre-senile dementia and bone changes. Early diagnosis and multidisciplinary care are crucial for managing this hereditary condition.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) is a rare, hereditary, progressive disorder.
- It primarily manifests as pre-senile dementia and distinct bone architecture changes.
Observation:
- Two sibling cases of early-onset dementia with confirmed genetic etiology for Nasu-Hakola disease are presented.
- Both patients exhibited behavioral changes in their third decade, progressing to similar cognitive impairments.
Findings:
- Genetic confirmation of Nasu-Hakola disease in both sibling cases.
- A literature review supports the presented clinical findings and rarity of the condition.
Implications:
- Highlights the importance of early and accurate diagnosis for pre-senile dementia syndromes with genetic origins.
- Emphasizes the need for humanized, multidisciplinary follow-up, genetic counseling, and family support to enhance patient quality of life.
Abstract:
The polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-Nasu-Hakola disease-is a hereditary and progressive pathology, which is mainly associated with pre-senile dementia and changes in bone architecture.
Objective:
To report two rare cases of sibling patients treated with early-onset dementia syndrome with genetic etiology, and to review the literature on the topic.
Methods:
Review of medical records, interviews and recording of the diagnostic methods to which patients were subjected. From this, a report was prepared of two cases who began behavioral changes in the third decade of life, who developed, at different times, symptoms of similar cognitive impairment. Bibliographic research carried out in the United States National Library of Medicine (PubMed), Medical Literature Analysis and Retrieval System Online (MEDLINE), Latin American and Caribbean Health Sciences Literature (LILACS), UpToDate and Scientific Electronic Library Online (SciELO) databases for bibliographic review.
Results:
Two clinical cases with genetic confirmation of Nasu-Hakola disease and a brief literature review were described.
Conclusion:
These cases illustrate a presentation of pre-senile dementia syndrome and reinforce the importance of adequate diagnosis for timely treatment, humanized multidisciplinary follow-up aiming to improve quality of life, as well as genetic and family counseling.
