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Developmental venous anomaly in association with neuromigrational anomalies
Developmental Venous Anomaly in Association With Neuromigrational Anomalies Rosario Maria S. Riel-Romero, MD and Michelle Mattingly, PhD This report describes a male neonate with unusual neuroradiologic findings at birth. The patient’s subsequent clinical course and the evolution of his findings on serial magnetic resonance imaging and magnetic resonance venograms are consistent with a developmental venous anomaly. The case underscores the association of developmental venous anomalies with neuromigrational disorders such as polymicrogyria and nonschizencephalic clefts. It also emphasizes the importance of recognizing this problem for prognostication and treatment. © 2005 by Elsevier Inc. All rights reserved. Riel-Romero RMS, Mattingly M. Developmental venous anomaly in association with neuromigrational anomalies. Pediatr Neurol 2005;32:53-55.
Introduction Developmental venous anomalies are dilated intramedullary veins converging into a large draining vein that ends into either a superficial or deep venous system in which normal draining veins are absent [1]. Venous malformations are the most common vascular malformations of the brain, accounting for 60% of all vascular anomalies [2]. The developmental factors that bring about developmental venous anomalies are not clearly understood. The frequent associations of cerebral developmental venous anomalies
From the Department of Neurology, University of Kentucky College of Medicine, Lexington, Kentucky.
© 2005 by Elsevier Inc. All rights reserved. doi:10.1016/j.pediatrneurol.2004.06.011 ● 0887-8994/05/$—see front matter
with cavernous malformations suggest a common embryonic and pathophysiologic mechanism. Abe et al. reported that 23 of 102 patients manifested coexisting developmental venous anomalies and cavernous malformations [3]. Sixty-eight percent of the resected malformations were pathologically confirmed cavernous malformations. Twenty-seven percent had thrombosed arteriovenous malformations. The patient described herein does not have evidence of a cavernous malformation to date. This case report presents a male neonate with unusual neuroradiologic findings at birth. His subsequent benign clinical course and the evolution of his findings on serial magnetic resonance imaging and magnetic resonance venograms suggest that he had a developmental venous anomaly. Case Report The patient is a 28-month-old male infant who was first evaluated at 2 hours of age. He was born by spontaneous vaginal delivery with a gestation of 40 weeks, 2977 gm, to a 20-year-old mother whose clinical findings were VDRL test (Venereal Diseases Reference Laboratory test) nonreactive, hepatitis B antigen negative, rubella immune, group B streptococci positive, and human immunodeficiency virus–negative. The mother had a history of seizures, but had been seizure-free and had discontinued antiepileptic medications about 4 years before delivery. She had a history of cocaine and tobacco use (2 packs per day) during pregnancy, hypothyroidism, and asthma. Before delivery, the patient had multiple decelerations and labor was induced. Prenatal ultrasound revealed a possible porencephalic cyst which prompted neurologic consultation. At birth, he was tachypneic and spent a few hours in the neonatal intensive care nursery. Head circumference was normal at 34.5 cm. He did not have any dysmorphisms, neurocutaneous lesions, or coexisting venous anomalies in the rest of his body. Cranial bruits were absent. Perinatal course was thereafter unremarkable. Family history is negative for neurologic disease. Initial head computed tomographic scan disclosed a large hyperattenuating lesion within the left sylvian fissure approximately 2 cm in length, imparting moderate mass effect upon the adjacent temporal and frontal lobes with some surrounding edema present. A small amount of left to right midline shift was present. A second area of high attenuation was located in the left anterior frontal pole. High attenuation was also observed along the curve of the superior sagittal sinus and along the superior aspect of the left vertex. Magnetic resonance imaging (Fig 1) demonstrated an elongated extraaxial mass immediately to the left of the midline along the superior vertex, either paralleling or directly involving the superior sagittal sinus. Subacute blood products were present. An additional mass sharing the same signal characteristics was located in the left sylvian fissure and appeared to parallel the course of the sphenoparietal sinus. These masses imparted minimal to moderate mass effect upon the left frontal lobe and the left lateral ventricles with some left to right midline shift.
Communications should be addressed to: Dr. Riel-Romero; Department of Neurology; University of Kentucky College of Medicine; L-450, Wing D, Kentucky Clinic; 740 South Limestone; Lexington, KY 40536. Received January 5, 2004; accepted June 10, 2004.
Riel-Romero and Mattingly: Developmental Venous Anomaly 53
Figure 1. Sagittal T1-weighted magnetic resonance imaging (TR/TE 450/14 ms/1 ms) at 3 days after birth demonstrated an elongated extra-axial mass immediately to the left of the midline along the superior vertex, either paralleling or directly involving the superior sagittal sinus. A magnetic resonance venogram (Fig 2) indicated that the superior sagittal sinus was patent only from a level immediately posterior to the vertex. The transverse sigmoid, straight sinus, and the vein of Galen manifested a normal appearance. Magnetic resonance angiogram was normal.
Figure 3. Axial T2-weighted magnetic resonance imaging (TR/TE 9000/14 ms) at 6 months of age documented a large area of polymicrogyria and a nonschizencephalic cleft in the left frontal area.
At 6 months of age, he continued to do well. He was sitting with support and had no seizures. Magnetic resonance imaging (Fig 3) at this time revealed a large area of polymicrogyria and a nonschizencephalic cleft in the left frontal area. Magnetic resonance venogram documented an abnormal superior sagittal sinus with occlusion of the anterior one third and marked collateralization of blood vessels in the posterior two thirds. The left transverse and sigmoid sinus were hypoplastic. The straight sinus was patent. Evaluation at the time of presentation included normal values for antithrombin III, lupus anticoagulant, protein C, protein S, factor V Leiden mutation, and plasma amino acids. At 17 months of age, developmental concerns surfaced. Formal neurodevelopmental evaluation at 21 months of age using the Bayley Scales of Infant Development–Second Edition (Bayley, 1993) demonstrated that the patient’s Mental Developmental Index fell below the first percentile for age, suggesting a developmental age of 13 months. Cognitive reasoning abilities were at the 11-month-old level, and language was at the 10-month-old level. Psychomotor Developmental Index was 82, which was at the fifteenth percentile. Throughout all this time, he was seizure-free and normocephalic. Based on his clinical course and the radiologic evolution of his findings, we concluded that this patient had a developmental venous anomaly.
Discussion
Figure 2. Sagittal magnetic resonance venogram (TR/TE 20/7.2/ms) revealed a patent superior sagittal sinus only from a level immediately posterior to the vertex. The transverse, sigmoid, straight sinus and the vein of Galen displayed a normal appearance.
54
PEDIATRIC NEUROLOGY
Vol. 32 No. 1
It is postulated that developmental venous anomalies may be formed as a normal response to an event occurring at some point during development [4]. Triggers may be hemodynamic stress leading to regression of normal venous channels and the formation of collateral veins. The effect, as in the present patient, is almost universally adequate venous drainage of brain tissue without catastrophic clinical or radiologic consequences. In essence,
developmental venous anomalies are thought to be normal variants of cerebral lesions’ drainage pathways, occurring as a normal adaptive response to embryonic factors [5]. This theory is supported by the fact developmental venous anomalies are observed in infancy and childhood. In fact, venous infarction frequently occurs in surgical resection or radiotherapy of developmental venous anomalies [5]. Developmental venous anomalies may also be present adjacent to brain tumors, infarcts, demyelinating areas, and moyamoya malformations [4]. They may be observed with congenital anomalies of the cerebral arterial system such as primitive trigeminal artery, fetal origin of the posterior cerebral arterial system, as well as fetal venous anomalies such as retention of the primitive falcial, occipital, and marginal tentorial sinuses [4]. This observation lends credence to the theory that embryonic events may trigger the formation of cerebral venous anomalies. It is interesting that our patient had neuromigrational anomalies in addition to a developmental venous anomaly. Venous anomalies are observed in patients with head and neck venous malformations. Boukobza et al. reported that 8 of 40 patients with external superficial cervicofacial, cutaneous, and mucosal venous malformations manifested developmental venous anomalies [6]. Aagaard et al. reported a 33-year-old man with a large inoperable arteriovenous malformation, a developmental venous anomaly of the right hemisphere, and multiple benign bilateral facial angiomas [7]. As this case illustrates, the importance of recognizing that this lesion is a congenital venous anomaly lies in the fact that these are normal variations and not pathologic entities. The incidence of bleeding is low [5]. Because most patients do well, no aggressive therapy, surgical or radiologic, needs to be performed. Failure to recognize this may cause needless anxiety and will result in potentially injurious treatment. It is certainly important to provide careful follow-up monitoring because aging can cause hemodynamic stress to developmental venous anomalies, causing possible occlusion and venous infarction. Moreover, as this case illustrates, children with this disorder may have associated neuromigrational anomalies. It then behooves physicians caring for these children to be vigilant for the occurrence of seizures and developmental problems. The patient reported here, although seizure-free, had neurodevelopmental problems. There are no known genetic studies of developmental venous anomalies in contrast to cerebral venous malformations [8,9]. Our patient had a younger sibling whose cranial ultrasound was normal. What is the role of maternal cocaine use in the present patient? The teratogenic potential of cocaine has been demonstrated in humans [10]. Heier et al. retrospectively
reviewed charts of 43 neonates born in a 1-year period to mothers who abused cocaine [11]. The frequency of intracranial hemorrhage, ventricular enlargement, and periventricular leukomalacia was not significantly different between the control group and the study group. Cortical infarction was 13% in the study group and 2% in the control group. Five of the 43 neonates manifested congenital midline central nervous system anomalies. Microcephaly [12] and pachygyria [13] have also been reported in infants of cocaine-abusing mothers. Although difficult to prove, it is still possible that maternal cocaine use could have played a role in the formation of this disorder. To the best of our knowledge, neuromigrational abnormalities have not been reported heretofore in association with a developmental venous anomaly. While this case illustrates the importance of nonaggressive treatment for developmental venous disorders, careful follow-up for neurodevelopmental problems is essential.
References [1] Huang YP, Patel SC, Robbins A, Chandhary M. Cerebral venous malformations and a new classification of cerebral vascular malformations. In: Kapp JP, Schmidek HH, eds. The cerebral venous system and its disorders. New York: Grune and Stratton, 1984:109-66. [2] Sarwar M, McCormick WF. Intracerebral venous angioma: Case report and review. Arch Neurol 1978;35:323-5. [3] Abe T, Singer RJ, Marks MP, Norbash AM, Crowley RS, Steinberg GK. Coexistence of occult vascular malformations and developmental venous anomalies in the central nervous system: MR evaluation. AJNR 1998;19:51-6. [4] Pryor J, Setton A, Berenstein A. Venous anomalies and associated lesions. Neurosurg Clin North Am 1999;10:519-25. [5] Lasjaunias P, Burrows P, Planet C. Developmental venous anomalies (DVA): The so-called venous angioma. Neurosurg Rev 1986;233-44. [6] Boukobza M, Enjolras O, Guichard JP, et al. Cerebral developmental venous anomalies associated with head and neck venous malformations. AJNR 1996;17:987-94. [7] Aagaard BP, Song JK, Eskridge JM, Mayberg MR. Complex right hemisphere developmental venous anomaly associated with multiple facial hemangiomas. J Neurosurg 1999;90:766-9. [8] Gunel M, Awad I, Anson J, Lifton RP. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Assoc Sci 1995;92:6620-4. [9] Gunel M, Awad I, Finberg K, et al. Genetic heterogeneity of inherited cerebral cavernous malformations. Neurosurgery 1996;38: 1265-71. [10] Mahalik MP, Gautieri RF, Hana DE. Teratogenic potential of cocaine hydrochloride in CF-1 mice. J Pharm Sci 1980;69:703-6. [11] Heier LA, Carpanzano CR, Mast J, et al. Maternal cocaine use: The spectrum of radiologic abnormalities in the neonatal central nervous system. AJNR 1991;12:951-6. [12] Hadeed AJ, Siegel SR. Maternal cocaine use during pregnancy: Effect in the newborn infant. Pediatrics 1989;84:205-10. [13] Gomez-Anson B, Ramsey RG. Pachygyria in a neonate with prenatal cocaine exposure: MR features. J Comput Assist Tomogr 1994;18:637-9.
Riel-Romero and Mattingly: Developmental Venous Anomaly 55
Introduction Developmental venous anomalies are dilated intramedullary veins converging into a large draining vein that ends into either a superficial or deep venous system in which normal draining veins are absent [1]. Venous malformations are the most common vascular malformations of the brain, accounting for 60% of all vascular anomalies [2]. The developmental factors that bring about developmental venous anomalies are not clearly understood. The frequent associations of cerebral developmental venous anomalies
From the Department of Neurology, University of Kentucky College of Medicine, Lexington, Kentucky.
© 2005 by Elsevier Inc. All rights reserved. doi:10.1016/j.pediatrneurol.2004.06.011 ● 0887-8994/05/$—see front matter
with cavernous malformations suggest a common embryonic and pathophysiologic mechanism. Abe et al. reported that 23 of 102 patients manifested coexisting developmental venous anomalies and cavernous malformations [3]. Sixty-eight percent of the resected malformations were pathologically confirmed cavernous malformations. Twenty-seven percent had thrombosed arteriovenous malformations. The patient described herein does not have evidence of a cavernous malformation to date. This case report presents a male neonate with unusual neuroradiologic findings at birth. His subsequent benign clinical course and the evolution of his findings on serial magnetic resonance imaging and magnetic resonance venograms suggest that he had a developmental venous anomaly. Case Report The patient is a 28-month-old male infant who was first evaluated at 2 hours of age. He was born by spontaneous vaginal delivery with a gestation of 40 weeks, 2977 gm, to a 20-year-old mother whose clinical findings were VDRL test (Venereal Diseases Reference Laboratory test) nonreactive, hepatitis B antigen negative, rubella immune, group B streptococci positive, and human immunodeficiency virus–negative. The mother had a history of seizures, but had been seizure-free and had discontinued antiepileptic medications about 4 years before delivery. She had a history of cocaine and tobacco use (2 packs per day) during pregnancy, hypothyroidism, and asthma. Before delivery, the patient had multiple decelerations and labor was induced. Prenatal ultrasound revealed a possible porencephalic cyst which prompted neurologic consultation. At birth, he was tachypneic and spent a few hours in the neonatal intensive care nursery. Head circumference was normal at 34.5 cm. He did not have any dysmorphisms, neurocutaneous lesions, or coexisting venous anomalies in the rest of his body. Cranial bruits were absent. Perinatal course was thereafter unremarkable. Family history is negative for neurologic disease. Initial head computed tomographic scan disclosed a large hyperattenuating lesion within the left sylvian fissure approximately 2 cm in length, imparting moderate mass effect upon the adjacent temporal and frontal lobes with some surrounding edema present. A small amount of left to right midline shift was present. A second area of high attenuation was located in the left anterior frontal pole. High attenuation was also observed along the curve of the superior sagittal sinus and along the superior aspect of the left vertex. Magnetic resonance imaging (Fig 1) demonstrated an elongated extraaxial mass immediately to the left of the midline along the superior vertex, either paralleling or directly involving the superior sagittal sinus. Subacute blood products were present. An additional mass sharing the same signal characteristics was located in the left sylvian fissure and appeared to parallel the course of the sphenoparietal sinus. These masses imparted minimal to moderate mass effect upon the left frontal lobe and the left lateral ventricles with some left to right midline shift.
Communications should be addressed to: Dr. Riel-Romero; Department of Neurology; University of Kentucky College of Medicine; L-450, Wing D, Kentucky Clinic; 740 South Limestone; Lexington, KY 40536. Received January 5, 2004; accepted June 10, 2004.
Riel-Romero and Mattingly: Developmental Venous Anomaly 53
Figure 1. Sagittal T1-weighted magnetic resonance imaging (TR/TE 450/14 ms/1 ms) at 3 days after birth demonstrated an elongated extra-axial mass immediately to the left of the midline along the superior vertex, either paralleling or directly involving the superior sagittal sinus. A magnetic resonance venogram (Fig 2) indicated that the superior sagittal sinus was patent only from a level immediately posterior to the vertex. The transverse sigmoid, straight sinus, and the vein of Galen manifested a normal appearance. Magnetic resonance angiogram was normal.
Figure 3. Axial T2-weighted magnetic resonance imaging (TR/TE 9000/14 ms) at 6 months of age documented a large area of polymicrogyria and a nonschizencephalic cleft in the left frontal area.
At 6 months of age, he continued to do well. He was sitting with support and had no seizures. Magnetic resonance imaging (Fig 3) at this time revealed a large area of polymicrogyria and a nonschizencephalic cleft in the left frontal area. Magnetic resonance venogram documented an abnormal superior sagittal sinus with occlusion of the anterior one third and marked collateralization of blood vessels in the posterior two thirds. The left transverse and sigmoid sinus were hypoplastic. The straight sinus was patent. Evaluation at the time of presentation included normal values for antithrombin III, lupus anticoagulant, protein C, protein S, factor V Leiden mutation, and plasma amino acids. At 17 months of age, developmental concerns surfaced. Formal neurodevelopmental evaluation at 21 months of age using the Bayley Scales of Infant Development–Second Edition (Bayley, 1993) demonstrated that the patient’s Mental Developmental Index fell below the first percentile for age, suggesting a developmental age of 13 months. Cognitive reasoning abilities were at the 11-month-old level, and language was at the 10-month-old level. Psychomotor Developmental Index was 82, which was at the fifteenth percentile. Throughout all this time, he was seizure-free and normocephalic. Based on his clinical course and the radiologic evolution of his findings, we concluded that this patient had a developmental venous anomaly.
Discussion
Figure 2. Sagittal magnetic resonance venogram (TR/TE 20/7.2/ms) revealed a patent superior sagittal sinus only from a level immediately posterior to the vertex. The transverse, sigmoid, straight sinus and the vein of Galen displayed a normal appearance.
54
PEDIATRIC NEUROLOGY
Vol. 32 No. 1
It is postulated that developmental venous anomalies may be formed as a normal response to an event occurring at some point during development [4]. Triggers may be hemodynamic stress leading to regression of normal venous channels and the formation of collateral veins. The effect, as in the present patient, is almost universally adequate venous drainage of brain tissue without catastrophic clinical or radiologic consequences. In essence,
developmental venous anomalies are thought to be normal variants of cerebral lesions’ drainage pathways, occurring as a normal adaptive response to embryonic factors [5]. This theory is supported by the fact developmental venous anomalies are observed in infancy and childhood. In fact, venous infarction frequently occurs in surgical resection or radiotherapy of developmental venous anomalies [5]. Developmental venous anomalies may also be present adjacent to brain tumors, infarcts, demyelinating areas, and moyamoya malformations [4]. They may be observed with congenital anomalies of the cerebral arterial system such as primitive trigeminal artery, fetal origin of the posterior cerebral arterial system, as well as fetal venous anomalies such as retention of the primitive falcial, occipital, and marginal tentorial sinuses [4]. This observation lends credence to the theory that embryonic events may trigger the formation of cerebral venous anomalies. It is interesting that our patient had neuromigrational anomalies in addition to a developmental venous anomaly. Venous anomalies are observed in patients with head and neck venous malformations. Boukobza et al. reported that 8 of 40 patients with external superficial cervicofacial, cutaneous, and mucosal venous malformations manifested developmental venous anomalies [6]. Aagaard et al. reported a 33-year-old man with a large inoperable arteriovenous malformation, a developmental venous anomaly of the right hemisphere, and multiple benign bilateral facial angiomas [7]. As this case illustrates, the importance of recognizing that this lesion is a congenital venous anomaly lies in the fact that these are normal variations and not pathologic entities. The incidence of bleeding is low [5]. Because most patients do well, no aggressive therapy, surgical or radiologic, needs to be performed. Failure to recognize this may cause needless anxiety and will result in potentially injurious treatment. It is certainly important to provide careful follow-up monitoring because aging can cause hemodynamic stress to developmental venous anomalies, causing possible occlusion and venous infarction. Moreover, as this case illustrates, children with this disorder may have associated neuromigrational anomalies. It then behooves physicians caring for these children to be vigilant for the occurrence of seizures and developmental problems. The patient reported here, although seizure-free, had neurodevelopmental problems. There are no known genetic studies of developmental venous anomalies in contrast to cerebral venous malformations [8,9]. Our patient had a younger sibling whose cranial ultrasound was normal. What is the role of maternal cocaine use in the present patient? The teratogenic potential of cocaine has been demonstrated in humans [10]. Heier et al. retrospectively
reviewed charts of 43 neonates born in a 1-year period to mothers who abused cocaine [11]. The frequency of intracranial hemorrhage, ventricular enlargement, and periventricular leukomalacia was not significantly different between the control group and the study group. Cortical infarction was 13% in the study group and 2% in the control group. Five of the 43 neonates manifested congenital midline central nervous system anomalies. Microcephaly [12] and pachygyria [13] have also been reported in infants of cocaine-abusing mothers. Although difficult to prove, it is still possible that maternal cocaine use could have played a role in the formation of this disorder. To the best of our knowledge, neuromigrational abnormalities have not been reported heretofore in association with a developmental venous anomaly. While this case illustrates the importance of nonaggressive treatment for developmental venous disorders, careful follow-up for neurodevelopmental problems is essential.
References [1] Huang YP, Patel SC, Robbins A, Chandhary M. Cerebral venous malformations and a new classification of cerebral vascular malformations. In: Kapp JP, Schmidek HH, eds. The cerebral venous system and its disorders. New York: Grune and Stratton, 1984:109-66. [2] Sarwar M, McCormick WF. Intracerebral venous angioma: Case report and review. Arch Neurol 1978;35:323-5. [3] Abe T, Singer RJ, Marks MP, Norbash AM, Crowley RS, Steinberg GK. Coexistence of occult vascular malformations and developmental venous anomalies in the central nervous system: MR evaluation. AJNR 1998;19:51-6. [4] Pryor J, Setton A, Berenstein A. Venous anomalies and associated lesions. Neurosurg Clin North Am 1999;10:519-25. [5] Lasjaunias P, Burrows P, Planet C. Developmental venous anomalies (DVA): The so-called venous angioma. Neurosurg Rev 1986;233-44. [6] Boukobza M, Enjolras O, Guichard JP, et al. Cerebral developmental venous anomalies associated with head and neck venous malformations. AJNR 1996;17:987-94. [7] Aagaard BP, Song JK, Eskridge JM, Mayberg MR. Complex right hemisphere developmental venous anomaly associated with multiple facial hemangiomas. J Neurosurg 1999;90:766-9. [8] Gunel M, Awad I, Anson J, Lifton RP. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Assoc Sci 1995;92:6620-4. [9] Gunel M, Awad I, Finberg K, et al. Genetic heterogeneity of inherited cerebral cavernous malformations. Neurosurgery 1996;38: 1265-71. [10] Mahalik MP, Gautieri RF, Hana DE. Teratogenic potential of cocaine hydrochloride in CF-1 mice. J Pharm Sci 1980;69:703-6. [11] Heier LA, Carpanzano CR, Mast J, et al. Maternal cocaine use: The spectrum of radiologic abnormalities in the neonatal central nervous system. AJNR 1991;12:951-6. [12] Hadeed AJ, Siegel SR. Maternal cocaine use during pregnancy: Effect in the newborn infant. Pediatrics 1989;84:205-10. [13] Gomez-Anson B, Ramsey RG. Pachygyria in a neonate with prenatal cocaine exposure: MR features. J Comput Assist Tomogr 1994;18:637-9.
Riel-Romero and Mattingly: Developmental Venous Anomaly 55