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Recognising CADASIL in adults with NPH-like syndrome
Aliakbar Netterwala1, Thomas Mathew2, Shagun Bhardwaj3
1Neurology, St John's National Academy of Health Sciences, Bengaluru, KA, India aliakbar12n@gmail.com.
BMJ Case Reports
|June 3, 2026
Summary
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can mimic normal pressure hydrocephalus (NPH). This case highlights the importance of considering CADASIL in patients with NPH-like symptoms and negative tap tests.
Area of Science:
- Neurology
- Genetics
- Vascular Neurology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic small vessel disease.
- CADASIL can present with symptoms overlapping idiopathic normal pressure hydrocephalus (iNPH).
Purpose of the Study:
- To report a case of CADASIL misdiagnosed as iNPH.
- To emphasize diagnostic considerations for differentiating CADASIL from iNPH.
Main Methods:
- Case presentation of a woman in her late 70s with iNPH-like symptoms.
- Review of clinical presentation, brain MRI findings, cerebrospinal fluid tap test results, family history, and genetic testing.
- Analysis of diagnostic criteria for iNPH and CADASIL.
Main Results:
- The patient presented with gait disturbance, urinary incontinence, and cognitive decline, consistent with iNPH.
- Brain MRI showed findings suggestive of both iNPH and CADASIL.
- A negative CSF tap test and positive genetic testing for a NOTCH3 variant confirmed CADASIL.
Conclusions:
- 'NPH-compatible' imaging and clinical presentation do not confirm iNPH.
- CADASIL should be considered in patients with negative tap tests and MRI/family history suggestive of small vessel disease.
- Accurate diagnosis is crucial for appropriate management and prognosis.
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