ISSN 0017-8748 doi: 10.1111/head.12551 Published by Wiley Periodicals, Inc.
Headache © 2015 American Headache Society
Clinical Correspondence Spontaneous Intracranial Hypotension as First Symptom of Aneurysms-Osteoarthritis Syndrome: A Case Report Hille Koppen, MD; Marieke J.H. Baars, MD, PhD; Adrianus van Gils, MD, PhD; Jeroen C. Vis, MD, PhD Key words: intracranial hypotension, headache, mutation (Headache 2015;55:711-712)
Abbreviations: AOS aneurysms-osteoarthritis syndrome, MRI magnetic resonance imaging, SIH spontaneous intracranial hypotension
underlying genetic disease (10 years previously), cardiac ultrasound had been done which at that moment showed normal aortic dimensions. Patient used thyroid hormone replacement therapy and overthe-counter analgesics for the present headache. No platelet inhibitors or oral anticoagulant drugs were used. General examination showed no fever (36°C) and no neck stiffness. Blood pressure was elevated (180/105 mmHg). Neurological examination was normal. Computed tomography of the head showed bilateral subdural hygroma of 5 mm. Coagulation tests were normal. In patients with suspected SIH who have subdural hygroma lumbar puncture to measure, cerebral spinal fluid opening pressure should be avoided. Gadolinium-enhanced magnetic resonance imaging (MRI) brain showed small ventricles and both dural and pituitary enhancement corresponding with cerebrospinal fluid hypotension. MRI spine showed no signs of cerebrospinal fluid (CSF) leakage but an increased spinal canal diameter (dural ectasia) caudally. The diagnosis SIH complicated with subdural hygroma was made. A possible mechanism for SIH could have been violent sneeze or vigorous coughing during the episode of upper respiratory tract symptoms. Headache complaints resolved gradually without autologous epidural blood patch, and
Only the minority of spontaneous intracranial hypotension (SIH) patients have connective tissue disorder such as Marfan syndrome1 or Ehlers–Danlos syndrome.2 We report a patient with SIH who appeared to have underlying aneurysms-osteoarthritis syndrome (AOS). A 55-year-old male presented to the emergency department with headache complaints since 7 weeks. One morning, he woke up with headache. Headache increased while standing, but did not resolve completely after lying down. Except for intermittent tinnitus, no accompanying symptoms were present. Before the headache episode started, he had been suffering from upper respiratory tract complaints. No head trauma had occurred previously. Because of familial dilatation of the ascending aorta without a diagnosed From the Neurology Department, Haga Hospital, The Hague, The Netherlands (H. Koppen); Radiology, Haga Hospital, The Hague, The Netherlands (A. van Gils); Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands (M.J.H. Baars); Cardiology, Academic Medical Center, Amsterdam, The Netherlands (J.C. Vis). Address all correspondence to H. Koppen, Hagaziekenhuis, Neurology, Leyweg 275, The Hague 2545 CH, The Netherlands.
Conflict of Interest: None. Accepted for publication February 20, 2015.
Financial Support: None.
711
712 follow-up imaging showed spontaneous resolution of the bilateral hygroma whereas ventricle volume increased. Seven months after initial presentation, he presented to the emergency department with chest pain. Myocardial ischemia was absent; however, echocardiography showed a dilated aortic root (widest diameter of 45 mm) and ascending aorta (widest diameter of 42 mm). Left ventricular ejection fraction was normal. Detailed physical examination by the genetic consultant revealed long slender fingers and several striae on the left arm and one on the back. Furthermore, pes planus was seen, but no hypermobility or scoliosis. X-rays of hands, hip, knees, and feet showed mild osteoarthritis, and a lumbar spondylolysis with spondylolisthesis was present. A mutation in the SMAD3 gene (c.4016G > A,r400_401 insACAG) was found, confirming AOS.3
DISCUSSION A minority of SIH patients have connective tissue disorder such as Marfan syndrome1 or Ehlers– Danlos syndrome.2 To our knowledge, this is the first patient reported in the literature with SIH with underlying AOS. The mutation in the SMAD3 gene affects both blood vessels and cartilage development.3,4 Clinically AOS is characterized by arterial anomalies like thoracic aortic aneurysms and osteoarthritis.4 Half of AOS patients also reported severe headaches or migraine.4 However, SIH as a cause of
May 2015 headache in AOS have not been reported previously and might be under diagnosed. The mechanism for development of SIH probably resembles that of Marfan syndrome in which dural ectasia are also found or excessive fragility of the spinal dura could play a role. AOS should be included in the differential of patients presenting with SIH.
CONCLUSION AOS should be included in the differential of patients presenting with SIH. Clinically AOS is characterized by arterial anomalies like thoracic aortic aneurysms and osteoarthritis. REFERENCES 1. Ferrante E, Citterio A, Savino A, Santalucia P. Postural headache in a patient with Marfan’s syndrome. Cephalalgia. 2003;23:552-555. 2. Reinstein E, Pariani M, Bannykh S, Rimoin DL, Schievink WI. Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: A prospective study. Eur J Hum Genet. 2013;21:386-390. 3. Yang X, Chen L, Xu X, Li C, Huang C, Deng CX. TGF-beta/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage. J Cell Biol. 2001;153:35-46. 4. van de Laar IM, van der Linde D, Oei EH, et al. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet. 2012;49:47-57.
Headache © 2015 American Headache Society
Clinical Correspondence Spontaneous Intracranial Hypotension as First Symptom of Aneurysms-Osteoarthritis Syndrome: A Case Report Hille Koppen, MD; Marieke J.H. Baars, MD, PhD; Adrianus van Gils, MD, PhD; Jeroen C. Vis, MD, PhD Key words: intracranial hypotension, headache, mutation (Headache 2015;55:711-712)
Abbreviations: AOS aneurysms-osteoarthritis syndrome, MRI magnetic resonance imaging, SIH spontaneous intracranial hypotension
underlying genetic disease (10 years previously), cardiac ultrasound had been done which at that moment showed normal aortic dimensions. Patient used thyroid hormone replacement therapy and overthe-counter analgesics for the present headache. No platelet inhibitors or oral anticoagulant drugs were used. General examination showed no fever (36°C) and no neck stiffness. Blood pressure was elevated (180/105 mmHg). Neurological examination was normal. Computed tomography of the head showed bilateral subdural hygroma of 5 mm. Coagulation tests were normal. In patients with suspected SIH who have subdural hygroma lumbar puncture to measure, cerebral spinal fluid opening pressure should be avoided. Gadolinium-enhanced magnetic resonance imaging (MRI) brain showed small ventricles and both dural and pituitary enhancement corresponding with cerebrospinal fluid hypotension. MRI spine showed no signs of cerebrospinal fluid (CSF) leakage but an increased spinal canal diameter (dural ectasia) caudally. The diagnosis SIH complicated with subdural hygroma was made. A possible mechanism for SIH could have been violent sneeze or vigorous coughing during the episode of upper respiratory tract symptoms. Headache complaints resolved gradually without autologous epidural blood patch, and
Only the minority of spontaneous intracranial hypotension (SIH) patients have connective tissue disorder such as Marfan syndrome1 or Ehlers–Danlos syndrome.2 We report a patient with SIH who appeared to have underlying aneurysms-osteoarthritis syndrome (AOS). A 55-year-old male presented to the emergency department with headache complaints since 7 weeks. One morning, he woke up with headache. Headache increased while standing, but did not resolve completely after lying down. Except for intermittent tinnitus, no accompanying symptoms were present. Before the headache episode started, he had been suffering from upper respiratory tract complaints. No head trauma had occurred previously. Because of familial dilatation of the ascending aorta without a diagnosed From the Neurology Department, Haga Hospital, The Hague, The Netherlands (H. Koppen); Radiology, Haga Hospital, The Hague, The Netherlands (A. van Gils); Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands (M.J.H. Baars); Cardiology, Academic Medical Center, Amsterdam, The Netherlands (J.C. Vis). Address all correspondence to H. Koppen, Hagaziekenhuis, Neurology, Leyweg 275, The Hague 2545 CH, The Netherlands.
Conflict of Interest: None. Accepted for publication February 20, 2015.
Financial Support: None.
711
712 follow-up imaging showed spontaneous resolution of the bilateral hygroma whereas ventricle volume increased. Seven months after initial presentation, he presented to the emergency department with chest pain. Myocardial ischemia was absent; however, echocardiography showed a dilated aortic root (widest diameter of 45 mm) and ascending aorta (widest diameter of 42 mm). Left ventricular ejection fraction was normal. Detailed physical examination by the genetic consultant revealed long slender fingers and several striae on the left arm and one on the back. Furthermore, pes planus was seen, but no hypermobility or scoliosis. X-rays of hands, hip, knees, and feet showed mild osteoarthritis, and a lumbar spondylolysis with spondylolisthesis was present. A mutation in the SMAD3 gene (c.4016G > A,r400_401 insACAG) was found, confirming AOS.3
DISCUSSION A minority of SIH patients have connective tissue disorder such as Marfan syndrome1 or Ehlers– Danlos syndrome.2 To our knowledge, this is the first patient reported in the literature with SIH with underlying AOS. The mutation in the SMAD3 gene affects both blood vessels and cartilage development.3,4 Clinically AOS is characterized by arterial anomalies like thoracic aortic aneurysms and osteoarthritis.4 Half of AOS patients also reported severe headaches or migraine.4 However, SIH as a cause of
May 2015 headache in AOS have not been reported previously and might be under diagnosed. The mechanism for development of SIH probably resembles that of Marfan syndrome in which dural ectasia are also found or excessive fragility of the spinal dura could play a role. AOS should be included in the differential of patients presenting with SIH.
CONCLUSION AOS should be included in the differential of patients presenting with SIH. Clinically AOS is characterized by arterial anomalies like thoracic aortic aneurysms and osteoarthritis. REFERENCES 1. Ferrante E, Citterio A, Savino A, Santalucia P. Postural headache in a patient with Marfan’s syndrome. Cephalalgia. 2003;23:552-555. 2. Reinstein E, Pariani M, Bannykh S, Rimoin DL, Schievink WI. Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: A prospective study. Eur J Hum Genet. 2013;21:386-390. 3. Yang X, Chen L, Xu X, Li C, Huang C, Deng CX. TGF-beta/Smad3 signals repress chondrocyte hypertrophic differentiation and are required for maintaining articular cartilage. J Cell Biol. 2001;153:35-46. 4. van de Laar IM, van der Linde D, Oei EH, et al. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet. 2012;49:47-57.
