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Treatment and Diagnostic Approach for Lhermitte-Duclos Disease and Suspected Cowden Syndrome
Ricardo García-Iturbide1, Joel A Velázquez1, Isauro Lozano Guzmán1
1Neurological Surgery, Hospital de Especialidades Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social (IMSS), Mexico City, MEX.
Insights
Lhermitte-Duclos disease (LDD) can be associated with Cowden syndrome (CS). This case highlights the importance of investigating associated tumors in patients with suspected LDD and CS, even without genetic confirmation.
Area of Science:
- Neurology
- Genetics
- Oncology
Background:
- Lhermitte-Duclos disease (LDD), also known as adult-onset primary dysplastic gangliomatosis, is a rare cerebellar malformation.
- It can occur independently or be associated with Cowden syndrome (CS), a genetic disorder characterized by an increased risk of benign and malignant tumors.
Observation:
- A 26-year-old male presented with acute obstructive hydrocephalus and Chiari malformation.
- Subsequent evaluation revealed mild cerebellar symptoms, mucocutaneous lesions, and a characteristic tiger-striped cerebellar lesion on imaging.
- The patient also underwent endoscopy and thyroid ultrasound due to symptom progression.
Findings:
- Initial suspicion of LDD with associated CS was based on clinical and radiological findings.
- Genetic testing was initiated, and the patient was diagnosed with CS based on the 2013 PTEN Hamartoma Tumor Syndrome clinical criteria.
- The diagnosis was established despite the absence of definitive genetic study results.
Implications:
- This case underscores the necessity of investigating for other associated tumors in patients with suspected LDD and CS.
- Clinical diagnostic criteria for CS are sufficient for diagnosis in the absence of genetic studies.
- Early and comprehensive evaluation is crucial for managing patients with LDD and potential PTEN hamartoma tumor syndrome.
Abstract:
Lhermitte-Duclos disease (LDD) is a rare entity, which may or may not be associated with Cowden syndrome (CS). The authors present a 26-year-old male with a history of emergency treatment due to acute obstructive hydrocephalus and apparent Chiari malformation. In posterior evaluation, mild cerebellar symptoms, mucocutaneous lesions, and a left hemispheric cerebellar lesion were evident. Initially, with the clinical evidence and the radiological study report of a cerebellar tiger-striped lesion, LDD with associated CS was suspected, and a genetic protocol was performed. The protocol included an endoscopy and thyroid ultrasound, and with symptom progression, a new neurosurgical procedure was performed. To complete the approach, we used the clinical criteria for PTEN hamartoma tumor syndrome established in 2013, and CS was diagnosed in the patient. In patients with radiological and clinical suspicion of LDD and CS, it should be mandatory to investigate the presence of other types of tumors due to their association with PTEN hamartomatous tumor syndrome, and in the absence of genetic study, the clinical criteria previously established in the literature should be sufficient to establish the diagnosis.
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