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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2016; 74(07): 599-600
DOI: 10.1590/0004-282X20160076
IMAGES IN NEUROLOGY

Lumbago and alopecia in a patient with leukodystrophy: think on CARASIL

Lombalgia e alopecia em um paciente com leucodistrofia: pensar em CARASIL
Paulo Victor Sgobbi de Souza
Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirugia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.
,
Wladimir Bocca Vieira de Rezende Pinto
Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirugia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.
,
Acary Souza Bulle Oliveira
Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirugia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.
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A 50-year-old Portuguese man presented with a 4-year-history of slurred speech, behavioral changes and tetraparesis with sphincter disturbances. Medical history was positive for chronic lumbar pain with spondylosis and two stroke-like episodes. Family history disclosed consanguineous parents. Examination showed alopecia, spastic tetraparesis, dysarthria and emotional instability. Neuroimaging revealed diffuse leukoencephalopathy ([Figure]), compatible with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). CARASIL is a hereditary small vessel disease caused by mutations in HTRA1 gene (10q26.13) and characterized by recurrent strokes, progressive dementia and key systemic features such as lumbago, alopecia, arthropathy, spondylosis and disc herniation[1],[2].

Zoom Image
Figure Typical clinical and neuroimaging features of CARASIL. Axial brain MRI disclosing marked diffuse leukoencephalopathy on T2-weighted (A,B) and FLAIR images (C,D) affecting mainly the periventricular and deep white matter. Only mild hyperintensity is seen in right temporal lobe (white arrow) and absence of marked signal changes are depicted in the external capsules (white arrow-head), differentiating it from the classic neuroimaging pattern described in CADASIL. (E) Lumbar spine MRI showing mild degenerative vertebral spondylosis on T2-weighted image. (F) The patient’s marked baldness.

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Conflict of interest:

There is no conflict of interest to declare.

  • References

  • 1 Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. J Stroke Cerebrovasc Dis. 2011;20(2):85-93. doi:10.1016/j.jstrokecerebrovasdis.2010.11.008
  • 2 Federico A, Di Donato F, Bianchi S, Di Palma C, Taglia I, Dotti MT. Hereditary cerebral small vessel diseases: a review. J Neurol Sci. 2012;322:25-30. doi:10.1016/j.jns.2012.07.041

Address for correspondence

Dr. Wladimir Bocca Vieira de Rezende Pinto
Departamento de Neurologia e Neurocirugia, Universidade Federal de São Paulo (UNIFESP); Rua Estado de Israel, 899; 04022-002 São Paulo SP
Brasil   

Publication History

Received: 25 October 2015

Accepted: 18 April 2016

Article published online:
06 September 2023

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  • References

  • 1 Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. J Stroke Cerebrovasc Dis. 2011;20(2):85-93. doi:10.1016/j.jstrokecerebrovasdis.2010.11.008
  • 2 Federico A, Di Donato F, Bianchi S, Di Palma C, Taglia I, Dotti MT. Hereditary cerebral small vessel diseases: a review. J Neurol Sci. 2012;322:25-30. doi:10.1016/j.jns.2012.07.041

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Zoom Image
Figure Typical clinical and neuroimaging features of CARASIL. Axial brain MRI disclosing marked diffuse leukoencephalopathy on T2-weighted (A,B) and FLAIR images (C,D) affecting mainly the periventricular and deep white matter. Only mild hyperintensity is seen in right temporal lobe (white arrow) and absence of marked signal changes are depicted in the external capsules (white arrow-head), differentiating it from the classic neuroimaging pattern described in CADASIL. (E) Lumbar spine MRI showing mild degenerative vertebral spondylosis on T2-weighted image. (F) The patient’s marked baldness.