Sunken eyes as a peculiar finding in neuronal ceroid lipofuscinoses
Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, João Victor Cabral Correia Férrer, Thiago Yoshinaga Tonholo Silva, Flávio Moura de Rezende Filho, José Luiz Pedroso, Orlando Graziani Povoas Barsottini
Abstract
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TopicsLysosomal Storage Disorders Research · CNS Lymphoma Diagnosis and Treatment · Ocular Diseases and Behçet’s Syndrome
We describe three siblings from a Brazilian family with neuronal ceroid lipofuscinoses (NCL) type 2, all presenting with pronounced sunken eyes alongside other typical manifestations: progressive ataxia, seizures, cognitive decline, and motor impairment 1 ( Figure 1 ). Magnetic resonance imaging revealed olivopontocerebellar atrophy in all patients. Genetic testing identified a pathogenic variant in the TPP1 gene in one sibling.
Frontal and lateral photograph of each patient showing the characteristic peculiar feature of sunken eyes. The patient's eyes appear deeply set within the orbital sockets, with noticeable shadowing and loss of soft-tissue volume around the eyes.
Neuronal ceroid lipofuscinoses are a group of progressive neurodegenerative disorders caused by genetic mutations leading to lysosomal dysfunction. 2 While the core symptoms are well documented, sunken eyes as a clinical feature is rarely reported. We postulate this sign in NCLs may reflect disease severity or complications such as malnutrition, thus warranting further investigation.
The reference list from the paper itself. Each links out to its DOI / PubMed record.
- 1Kaminiów K Kozak S Paprocka J Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis Int J Mol Sci 20222310572910.3390/ijms 2310572935628533 PMC 9145894 · doi ↗ · pubmed ↗
- 2Simonati A Williams R E Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview Front Neurol 20221381168610.3389/fneur.2022.81168635359645 PMC 8961688 · doi ↗ · pubmed ↗