J Neurosurg 50:826-829, 1979
Familial intradural arachnoid cysts Report of two cases
BIZHAN AARABI, M.D., GAVRILPASTERNAK,M.D., PH.D., OnEST HUnKO, M.D., ANn DONLIN M. LONG, M.D., PH.D. Departments of Neurosurgery and Neurology, The Johns Hopkins Hospital, Baltimore, Maryland v' Two cases of intradural arachnoid cysts are reported in one family. The propositus was a 27-year-old woman with right inframammillary radicular pain and subjective weakness of the lower extremities. Her 57year-old father was admitted with a progressive, painless paraparesis of 6 years' duration. Intradural arachnoid cysts, at T8-9 and T5-6, respectively, were found in both patients at the time of exploration. KEY WORDS
9 spinal cord
9 arachnoid cyst
A
RACHNOID cysts are benign leptomeningeal diverticuli that can occur in the intradural, 4-6,9,1~ extradural, ~-s,s-l~,~5 or perineural spaces. ~4 Familial extradural arachnoid cysts associated with distichiasis and lymphedema have been reported before? ,~,1~To our knowledge this is the first family reported with two members harboring intradural arachnoid cysts without distichiasis and lymphedema. 7
9 tumor
The family history was positive for lower extremity weakness (Fig. 1). Besides her father (Case 2), two uncles had leg weakness for many years. One unmarried uncle died in 1960 because of a kidney infection, and the other, a 74-year-old man with severe leg weakness, could not be contacted. A 22-year-old sister also has a 3-year history of leg weakness without urinary symptoms, but refuses medical evaluation.
Case Reports
Case 1 This 27-year-old woman was admitted to The Johns Hopkins Hospital in July, 1978, for evaluation of dull pain in the lower thoracic spine with radiation around the right inframammillary area. History. Since childhood she had suffered a mild weakness in her lower extremities which prevented her from actively participating in sports. A car accident in August, 1975, caused a whiplash injury to her neck with pain in the right shoulder as well as an exacerbation of the existing pain in her lower thoracic spine. She responded to conservative treatment with traction and bedrest. In July, 1977, she was admitted to another hospital where myelography revealed a complete block at T-9 consistent with an intradural lesion. She refused an operation at that time, but was admitted to Johns Hopkins Hospital in July, 1978, because of persistent symptoms. 826
8OI
76
80
1
9 Surgicallyproven [ ] Suspectedbyhistory u5
9 [ ] Not e~omined
FIG. 1. Family pedigree of Cases 1 and 2. Arrow indicates propositus (Case 1). + = deceased; numbers indicate age where known, either at death or at time of study.
J. Neurosurg. / Volume 50 / June, 1979
Familial intradural arachnoid cysts Examination. At the time of admission the patient had tenderness over the T8-9 spinous processes with no paravertebral muscle spasm. Cranial nerve examination was normal. Muscle examination revealed no fasciculations or atrophy. Muscle tone was normal throughout. Although she was able to walk on tiptoes and heels, she did have 4/5 weakness in the physiological flexors of her lower extremities. Deep tendon reflexes were 2 in the upper extremities, and 3 to 4 in the lower extremities with normal plantar responses. Sensation was normal in all modalities. Cerebellar function was within normal limits. Neuromuscular evaluation, including electromyograms and nerve conduction velocities with latencies, was normal. Plain x-ray films of the thoracic and lumbar spine revealed no erosion of the pedicles, widening of the spinal canal, or calcifications. Myelography revealed a complete block at T-9 (Fig. 2). Cerebrospinal fluid (CSF) glucose was 41 mg/dl and protein 124 mg/dl with no cells and negative cultures. Analysis of blood and CSF, and tests for syphilis were negative. Operation. Laminectomy at T7-11 revealed no extradural lesion. Upon opening the dura mater, we encountered three whitish, thick-walled, septated arachnoid cysts, with a small area of calcification. The cysts were pushing the spinal cord anteriorly and to the left. With the aid of a surgical microscope the cysts were resected. Postoperative Course. The patient recovered uneventfully and left the hospital with no increase in neurological deficit. Frozen and permanent slides demonstrated an arachnoid cyst (Fig. 3). Case 2 This 57-year-old man, father of the patient in Case 1, was admitted to The Johns Hopkins Hospital in August, 1978, because of progressive weakness in his legs.
FIG. 2. Case 1. Anteroposterior (left) and lateral (right) views of the thoracic myelogram. Note the almost complete block against the flow of Pantopaque at T-9.
History. In 1952, the patient had slight weakness of his left leg and hyperreflexia was noted in another hospital; this finding was documented again in 1963. Six years before his present admission he noted further leg weakness, more prominent on the left, which was associated with dysesthesias in his feet. His weakness gradually worsened, causing progressive difficulty with walking, climbing steps, and arising from chairs. He had no arm weakness. In 1976, pain started radiating from his epigastrium to the lower back and both legs. Two months before admission he noted dif-
FIG. 3. Case 1. Photomicrograph of the arachnoid diverticuli found at exploration. H & E, X 40. J. Neurosurg. / Volume 50 / June, 1979
827
B. Aarabi, G. Pasternak, O. Hurko and D. M. Long
FIe;. 4. Case 2. Anteroposterior (left) and lateral (right) views of the thoracic myelogram showing complete block at the level of T5-6. Pantopaque was introduced into the subarachnoid space by lumbar and C1-2 punctures. FIG. 5. Case 2. Photomicrograph of the arachnoid diverticuli found at exploration. H & E, • 100. ficulty in voiding, and by late June, 1978, he was forced to retire as a laborer because of his weakness. The family history indicated two brothers and two daughters, including Case 1, with similar symptoms (Fig. 1). Examination. The patient had intact cranial nerves. Muscle tone was normal in the upper extremities and increased in the lower extremities, with no fasciculations or atrophy. There was 4/5 weakness of the muscles of the lower extremities. Deep-tendon reflexes were 2 in the upper and lower extremities, except for an absent left knee jerk. Babinski signs were present bilaterally. Vibration, light touch, pin, and temperature sense were decreased from T-6 to L-1 and further decreased in a stocking distribution below the knees. Cerebellar testing was within normal limits. Spine x-ray films showed only minimal degenerative changes. A lumbar and C1-2 myelogram revealed complete block at T5-6 (Fig. 4). Cerebrospinal fluid glucose was 64 mg/dl and protein 126 mg/dl, with no cells. Blood and CSF tests for syphilis were negative. Operation. Laminectomy at T3-7 under general anesthesia revealed no epidural lesion. On opening the dura, we found two whitish, thick-walled, septated arachnoid cysts with a thin plaque of calcification extending for up to three spinal cord segments. The cysts 828
were slightly adherent to the dura and pushed the spinal cord anteriorly. With the aid of the surgical microscope the cysts were resected completely. Pathological examination revealed thick arachnoid with no evidence of chronic infection (Fig. 5). The postoperative course was benign. Discussion
This family has five members with a symptomatic paraparesis in two generations, with two cases of proven intradural arachnoid cysts (Fig. 1). Familial extradural cysts show autosomal-dominant inheritance, as does this family with intradural cysts. The inheritance, age of onset of symptoms, and absence of predisposing etiologies suggests a congenital lesion. The localization of these familial intradural cysts is midthoracic, as in previously reported cases of extradural and intradural cysts. Unlike most of the cases in the literature, these cysts are not associated with increased interpedicular distances nor with other congenital abnormalities, such as distichiasis (double row of eyelashes) and lymphedema. 1,2,11 Unfortunately, both surviving undiagnosed J. Neurosurg. / Volume 50 / June, 1979
Familial intradural arachnoid cysts family members with long-term, progressive, painless paraparesis currently refuse medical evaluation. Almost all the previously reported familial patients with extradural arachnoid cysts have had distichiasis and lymphedema. 1,2,~1 The cysts were invariably located in the midthoracic area in association with increased interpedicular distance. Neither of our two patients with intradural arachnoid cysts had distichiasis or lymphedema, and their interpedicular distances were within normal range. It seems that the mode of inheritance in familial extradural cysts is Mendelian-dominant, and so is the inheritance in the family reported here. References 1. Bergland RM: Congenital intraspinal extradural cyst. Report of three cases in one family. J Neurosurg 28:495-499, 1968 2. Chynn K-Y: Congenital spinal extradural cyst in two siblings. Am J Roentgenol 101:204-215, 1967 3. Elsberg CA, Dyke CG, Brewer ED: The symptoms and diagnosis of extradural cysts. Bull Neurol Inst NY 3:395-417, 1934 4. Fortuna A, La Torre E, Ciappetta P: Arachnoid diverticula: a unitary approach to spinal cysts communicating with the subarachnoid space. Acta Neurochir 39:259-268, 1977 5. Hoffmann GT: Cervical arachnoidal cyst. Report of a 6-year-old negro male with recovery from quadriplegia. J Neurosurg 17:327-330, 1960
J. Neurosurg. / Volume 50 / June, 1979
6. Jensen F, Knudsen V, Troelsen S: Recurrent intraspinal arachnoid cyst treated with a shunt procedure. Acta Neurochir 39:127-129, 1977 7. McKusick VA: Mendelian Inheritance in Man, ed 5. Baltimore: Johns Hopkins University Press, 1978, 975 PP 8. Nugent GR, Odom GL, Woodhall B: Spinal extradural cysts. Neurology 9:397-406, 1959 9. Palmer J J: Spinal arachnoid cysts. Report of six cases. J Neurosurg 41:728-735, 1974 10. Raja IA, Hankinson J: Congenital spinal arachnoid cysts. Report of two cases and review of the literature. J Neurol Neurosurg Psychiatry 33:105-110, 1970 l l. Robinow M, Johnson GF, Verhagen AD: DistichiasisLymphedema. A hereditary syndrome of multiple congenital defects. Am J Dis Child 119:343-347, 1970 12. Skoog AL: Spinal cord compression from leptomeningeal cysts. With a report of two cases. JAMA 65:394-398, 1915 13. Stewart DH Jr, Red DE: Spinal arachnoid diverticula. J Neurusurg 35:65-70, 1971 14. Tarlov IM: Perineurial cysts of the spinal nerve roots. Arch Neurol Psychiatry 40:1067-1074, 1938 15. Weir B: Leptomeningeal cysts in congenital ectopia lentis. Case report. J Neurosurg 38:650-653, 1973
Address reprint requests to: Bizhan Aarabi, M.D., Department of Neurosurgery, Nemazi Hospital, Shiraz, Iran.
829
Familial intradural arachnoid cysts Report of two cases
BIZHAN AARABI, M.D., GAVRILPASTERNAK,M.D., PH.D., OnEST HUnKO, M.D., ANn DONLIN M. LONG, M.D., PH.D. Departments of Neurosurgery and Neurology, The Johns Hopkins Hospital, Baltimore, Maryland v' Two cases of intradural arachnoid cysts are reported in one family. The propositus was a 27-year-old woman with right inframammillary radicular pain and subjective weakness of the lower extremities. Her 57year-old father was admitted with a progressive, painless paraparesis of 6 years' duration. Intradural arachnoid cysts, at T8-9 and T5-6, respectively, were found in both patients at the time of exploration. KEY WORDS
9 spinal cord
9 arachnoid cyst
A
RACHNOID cysts are benign leptomeningeal diverticuli that can occur in the intradural, 4-6,9,1~ extradural, ~-s,s-l~,~5 or perineural spaces. ~4 Familial extradural arachnoid cysts associated with distichiasis and lymphedema have been reported before? ,~,1~To our knowledge this is the first family reported with two members harboring intradural arachnoid cysts without distichiasis and lymphedema. 7
9 tumor
The family history was positive for lower extremity weakness (Fig. 1). Besides her father (Case 2), two uncles had leg weakness for many years. One unmarried uncle died in 1960 because of a kidney infection, and the other, a 74-year-old man with severe leg weakness, could not be contacted. A 22-year-old sister also has a 3-year history of leg weakness without urinary symptoms, but refuses medical evaluation.
Case Reports
Case 1 This 27-year-old woman was admitted to The Johns Hopkins Hospital in July, 1978, for evaluation of dull pain in the lower thoracic spine with radiation around the right inframammillary area. History. Since childhood she had suffered a mild weakness in her lower extremities which prevented her from actively participating in sports. A car accident in August, 1975, caused a whiplash injury to her neck with pain in the right shoulder as well as an exacerbation of the existing pain in her lower thoracic spine. She responded to conservative treatment with traction and bedrest. In July, 1977, she was admitted to another hospital where myelography revealed a complete block at T-9 consistent with an intradural lesion. She refused an operation at that time, but was admitted to Johns Hopkins Hospital in July, 1978, because of persistent symptoms. 826
8OI
76
80
1
9 Surgicallyproven [ ] Suspectedbyhistory u5
9 [ ] Not e~omined
FIG. 1. Family pedigree of Cases 1 and 2. Arrow indicates propositus (Case 1). + = deceased; numbers indicate age where known, either at death or at time of study.
J. Neurosurg. / Volume 50 / June, 1979
Familial intradural arachnoid cysts Examination. At the time of admission the patient had tenderness over the T8-9 spinous processes with no paravertebral muscle spasm. Cranial nerve examination was normal. Muscle examination revealed no fasciculations or atrophy. Muscle tone was normal throughout. Although she was able to walk on tiptoes and heels, she did have 4/5 weakness in the physiological flexors of her lower extremities. Deep tendon reflexes were 2 in the upper extremities, and 3 to 4 in the lower extremities with normal plantar responses. Sensation was normal in all modalities. Cerebellar function was within normal limits. Neuromuscular evaluation, including electromyograms and nerve conduction velocities with latencies, was normal. Plain x-ray films of the thoracic and lumbar spine revealed no erosion of the pedicles, widening of the spinal canal, or calcifications. Myelography revealed a complete block at T-9 (Fig. 2). Cerebrospinal fluid (CSF) glucose was 41 mg/dl and protein 124 mg/dl with no cells and negative cultures. Analysis of blood and CSF, and tests for syphilis were negative. Operation. Laminectomy at T7-11 revealed no extradural lesion. Upon opening the dura mater, we encountered three whitish, thick-walled, septated arachnoid cysts, with a small area of calcification. The cysts were pushing the spinal cord anteriorly and to the left. With the aid of a surgical microscope the cysts were resected. Postoperative Course. The patient recovered uneventfully and left the hospital with no increase in neurological deficit. Frozen and permanent slides demonstrated an arachnoid cyst (Fig. 3). Case 2 This 57-year-old man, father of the patient in Case 1, was admitted to The Johns Hopkins Hospital in August, 1978, because of progressive weakness in his legs.
FIG. 2. Case 1. Anteroposterior (left) and lateral (right) views of the thoracic myelogram. Note the almost complete block against the flow of Pantopaque at T-9.
History. In 1952, the patient had slight weakness of his left leg and hyperreflexia was noted in another hospital; this finding was documented again in 1963. Six years before his present admission he noted further leg weakness, more prominent on the left, which was associated with dysesthesias in his feet. His weakness gradually worsened, causing progressive difficulty with walking, climbing steps, and arising from chairs. He had no arm weakness. In 1976, pain started radiating from his epigastrium to the lower back and both legs. Two months before admission he noted dif-
FIG. 3. Case 1. Photomicrograph of the arachnoid diverticuli found at exploration. H & E, X 40. J. Neurosurg. / Volume 50 / June, 1979
827
B. Aarabi, G. Pasternak, O. Hurko and D. M. Long
FIe;. 4. Case 2. Anteroposterior (left) and lateral (right) views of the thoracic myelogram showing complete block at the level of T5-6. Pantopaque was introduced into the subarachnoid space by lumbar and C1-2 punctures. FIG. 5. Case 2. Photomicrograph of the arachnoid diverticuli found at exploration. H & E, • 100. ficulty in voiding, and by late June, 1978, he was forced to retire as a laborer because of his weakness. The family history indicated two brothers and two daughters, including Case 1, with similar symptoms (Fig. 1). Examination. The patient had intact cranial nerves. Muscle tone was normal in the upper extremities and increased in the lower extremities, with no fasciculations or atrophy. There was 4/5 weakness of the muscles of the lower extremities. Deep-tendon reflexes were 2 in the upper and lower extremities, except for an absent left knee jerk. Babinski signs were present bilaterally. Vibration, light touch, pin, and temperature sense were decreased from T-6 to L-1 and further decreased in a stocking distribution below the knees. Cerebellar testing was within normal limits. Spine x-ray films showed only minimal degenerative changes. A lumbar and C1-2 myelogram revealed complete block at T5-6 (Fig. 4). Cerebrospinal fluid glucose was 64 mg/dl and protein 126 mg/dl, with no cells. Blood and CSF tests for syphilis were negative. Operation. Laminectomy at T3-7 under general anesthesia revealed no epidural lesion. On opening the dura, we found two whitish, thick-walled, septated arachnoid cysts with a thin plaque of calcification extending for up to three spinal cord segments. The cysts 828
were slightly adherent to the dura and pushed the spinal cord anteriorly. With the aid of the surgical microscope the cysts were resected completely. Pathological examination revealed thick arachnoid with no evidence of chronic infection (Fig. 5). The postoperative course was benign. Discussion
This family has five members with a symptomatic paraparesis in two generations, with two cases of proven intradural arachnoid cysts (Fig. 1). Familial extradural cysts show autosomal-dominant inheritance, as does this family with intradural cysts. The inheritance, age of onset of symptoms, and absence of predisposing etiologies suggests a congenital lesion. The localization of these familial intradural cysts is midthoracic, as in previously reported cases of extradural and intradural cysts. Unlike most of the cases in the literature, these cysts are not associated with increased interpedicular distances nor with other congenital abnormalities, such as distichiasis (double row of eyelashes) and lymphedema. 1,2,11 Unfortunately, both surviving undiagnosed J. Neurosurg. / Volume 50 / June, 1979
Familial intradural arachnoid cysts family members with long-term, progressive, painless paraparesis currently refuse medical evaluation. Almost all the previously reported familial patients with extradural arachnoid cysts have had distichiasis and lymphedema. 1,2,~1 The cysts were invariably located in the midthoracic area in association with increased interpedicular distance. Neither of our two patients with intradural arachnoid cysts had distichiasis or lymphedema, and their interpedicular distances were within normal range. It seems that the mode of inheritance in familial extradural cysts is Mendelian-dominant, and so is the inheritance in the family reported here. References 1. Bergland RM: Congenital intraspinal extradural cyst. Report of three cases in one family. J Neurosurg 28:495-499, 1968 2. Chynn K-Y: Congenital spinal extradural cyst in two siblings. Am J Roentgenol 101:204-215, 1967 3. Elsberg CA, Dyke CG, Brewer ED: The symptoms and diagnosis of extradural cysts. Bull Neurol Inst NY 3:395-417, 1934 4. Fortuna A, La Torre E, Ciappetta P: Arachnoid diverticula: a unitary approach to spinal cysts communicating with the subarachnoid space. Acta Neurochir 39:259-268, 1977 5. Hoffmann GT: Cervical arachnoidal cyst. Report of a 6-year-old negro male with recovery from quadriplegia. J Neurosurg 17:327-330, 1960
J. Neurosurg. / Volume 50 / June, 1979
6. Jensen F, Knudsen V, Troelsen S: Recurrent intraspinal arachnoid cyst treated with a shunt procedure. Acta Neurochir 39:127-129, 1977 7. McKusick VA: Mendelian Inheritance in Man, ed 5. Baltimore: Johns Hopkins University Press, 1978, 975 PP 8. Nugent GR, Odom GL, Woodhall B: Spinal extradural cysts. Neurology 9:397-406, 1959 9. Palmer J J: Spinal arachnoid cysts. Report of six cases. J Neurosurg 41:728-735, 1974 10. Raja IA, Hankinson J: Congenital spinal arachnoid cysts. Report of two cases and review of the literature. J Neurol Neurosurg Psychiatry 33:105-110, 1970 l l. Robinow M, Johnson GF, Verhagen AD: DistichiasisLymphedema. A hereditary syndrome of multiple congenital defects. Am J Dis Child 119:343-347, 1970 12. Skoog AL: Spinal cord compression from leptomeningeal cysts. With a report of two cases. JAMA 65:394-398, 1915 13. Stewart DH Jr, Red DE: Spinal arachnoid diverticula. J Neurusurg 35:65-70, 1971 14. Tarlov IM: Perineurial cysts of the spinal nerve roots. Arch Neurol Psychiatry 40:1067-1074, 1938 15. Weir B: Leptomeningeal cysts in congenital ectopia lentis. Case report. J Neurosurg 38:650-653, 1973
Address reprint requests to: Bizhan Aarabi, M.D., Department of Neurosurgery, Nemazi Hospital, Shiraz, Iran.
829
