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Late diagnosis of homocystinuria in an adult after extensive cerebral venous thrombosis
  1. Sonia Quintas1,
  2. Julio Dotor-García Soto1,
  3. María Concepción Alonso-Cerezo2,
  4. Maria Teresa Carreras1
  1. 1 Department of Neurology, Hospital Universitario de la Princesa, Madrid, Spain
  2. 2 Department of Clinical Genetics, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria, Madrid, Spain
  1. Correspondence to Dr Sonia Quintas, Department of Neurology, Hospital Universitario de la Princesa, Madrid 28006, Spain; sonia.qg{at}

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A 44-year-old man presented with a 6-day history of headache with nausea and progressive somnolence. He had been previously clinically diagnosed with Marfan’s syndrome, with a history of bilateral crystalline lens subluxation, elongated ascending aorta, tall stature, pectus excavatum and dorsolumbar scoliosis (figure 1). He also had evidence of mental retardation (IQ 50) and a psychiatric history.

Figure 1

Marfan phenotype: pectus excavatum, dorsolumbar scoliosis and arachnodactyly.

On examination, he had mild neck stiffness but was afebrile. He showed right gaze deviation, left haemineglect and left homonymous haemianopia (National Institutes of Health Stroke Scale score=6). Non-contrast CT scan of head showed a temporal cortical vein thrombosis (figure 2). A CT venogram confirmed an extensive deep cerebral venous thrombosis that included the right internal jugular vein, right sigmoid and transverse sinuses, superior sagittal sinus and distal segment of rectus sinus (figure 3).

Figure 2

Non-contrast cranial CT: thrombosis of right temporal cortical vein.

Figure 3

Cranial CT venogram: extensive cerebral venous thrombosis (right internal jugular …

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  • Contributors SQ: study concept and design, acquisition, analysis and interpretation of data. JD-GS: acquisition of data, revision of manuscript. CA-C: genetic analysis, revision of manuscript. MTC: analysis and interpretation of data, revision of manuscript, study supervision.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by William Whiteley, Edinburgh, UK.

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