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Normal Pressure Hydrocephalus: Recognition and Relationship to Neurological Abnormalities in Cockayne's Syndrome

Normal Pressure Hydrocephalus: Recognition and Relationship to Neurological Abnormalities in... Abstract • Normal pressure hydrocephalus (NPH) in adults is a well-known cause of dementia. We describe NPH in children having the recessively inherited Cockayne's syndrome (CS). Cockayne's syndrome is characterized by cachectic dwarfism, neurological dysfunction, and cutaneous sunlight sensitivity. We noted that the NPH-associated triad of dementia, gait disturbance, and incontinence developed in CS patients. Computerized tomography of the brain in our four CS patients showed hydrocephalic enlargement of the brain ventricles greatest in the older patients. There was no evidence of cortical atrophy except in the one patient who had CS with xeroderma pigmentosum. Lumbar puncture and radionuclide cisternography in the two patients tested showed normal CSF pressure, with complete blockade to flow of radionuclide above the tentorium cerebelli, ventricular reflux, and delayed absorption. Studies of NPH in CS may elucidate the pathophysiology of NPH and methods to alter its sequelae. References 1. Hakim S: Algunas observaciones sobre la presion del L.C.R. sindrome hydrocefalico en el aulto con presion normal del L.C.R. (presentation de un neuvo sindrome), thesis. Facultad de Medicina, Universidad Javersiana, Bogota, Colombia, 1964. 2. Hakim S, Adams RD: The special problem of symptomatic hydrocephalus with normal cerebrospinal fluid pressure . J Neurol Sci 2:307-327, 1965.Crossref 3. Adams RD, Fisher CM, Hakim S, et al: Symptomatic occult hydrocephalus with "normal" cerebrospinal fluid pressure . N Engl J Med 273:117-126, 1965.Crossref 4. Wood JH, Bartlet D, James AE Jr, et al: Normal pressure hydrocephalus: Diagnosis and patient selection for surgery . Neurology 24:517-526, 1974.Crossref 5. Benson DF, LeMay M, Patten DH, et al: Diagnosis of normal pressure hydrocephalus . N Engl J Med 283:609-615, 1970.Crossref 6. Welch K: The principles of physiology of the cerebrospinal fluid in relation to hydrocephalus including normal pressure hydrocephalus , in Friedlander WJ (ed): Advances in Neurology . New York, Raven Press, 1975, vol 13, pp 247-332. 7. Katzman R: Cerebrospinal fluid physiology and normal pressure hydrocephalus , in Terry RD, Gershon S (eds): Neurobiology of Aging . New York, Raven Press, 1976, pp 139-153. 8. Stein BM, Fraser RAR, Tenner MS: Normal pressure hydrocephalus: Complication of posterior fossa surgery in children . Pediatrics 49:50-58, 1972. 9. Cockayne EA: Dwarfism with retinal atrophy and deafness . Arch Dis Child 11:1-8, 1936.Crossref 10. Cockayne EA: Case reports: Dwarfism with retinal atrophy and deafness . Arch Dis Child 21:52-54, 1946.Crossref 11. Neill CA, Dingwall MM: A syndrome resembling progeria: A review of two cases . Arch Dis Child 25:213-221, 1950.Crossref 12. Guzzetta F: Cockayne-Neill-Dingwall syndrome , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . Amsterdam, North Holland Publishing Co, 1972, vol 13, pp 431-440. 13. Moosa A, Dubowitz V: Peripheral neuropathy in Cockayne's syndrome . Arch Dis Child 45:674-677, 1970.Crossref 14. Schmickel RD, Chu EHY, Trosko J: The definition of a cellular defect in two patients with Cockayne syndrome . Pediatr Res 9:317, 1975. 15. Andrews AD, Barrett SF, Robbins JH: Relation of DNA repair processes to pathological aging of the nervous system in xeroderma pigmentosum . Lancet 1:1318-1320, 1976.Crossref 16. Andrews AD, Yoder FW, Barrett SF, et al: Cockayne's syndrome fibroblasts have decreased colony-forming ability but normal rates of unscheduled DNA synthesis after ultraviolet irradiation . Clin Res 24:624A, 1976. 17. Robbins JH, Kraemer KH, Lutzner MA, et al: Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair . Ann Intern Med 80:221-248, 1974.Crossref 18. Kleijer WJ, De Weerd-Kastelein EA, Sluyter ML, et al: UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum . Mutat Res 20:417-428, 1973.Crossref 19. Windmiller J, Whalley PJ, Fink CW: Cockayne's syndrome with chromosomal analysis . Am J Dis Child 105:204-208, 1963. 20. Noojin RO: Xeroderma pigmentosum treated with oral methoxsalen . Arch Dermatol 92:422-423, 1965.Crossref 21. Robbins JH, Kraemer KH, Andrews AD: Inherited DNA repair defects in H sapiens: Their relation to UV-associated processes in xeroderma pigmentosum , in Yuhas JM, Tennant RW, Regan JD (eds): Biology of Radiation Carcinogenesis . New York, Raven Press, 1976, pp 115-127. 22. Engel WK: "Myopathic EMG"—None such animal . N Engl J Med 289:486, 1973. 23. Pearce WG: Ocular and genetic features of Cockayne's syndrome . Canad J Ophthalmol 7:435-444, 1972. 24. Hernandez AL, de Leon B, de la Puente SG, et al: Lesiones renales ultraestructurales del sindrome de Cockayne . Rev Invest Clin 27:153-158, 1975. 25. Srivastava RN, Gupta PC, Mayekar G, et al: Cockayne's syndrome in two sisters . Acta Paediatr Scand 63:461-464, 1974.Crossref 26. Rowlatt U: Cockayne's syndrome: Report of a case with necropsy findings . Acta Neuropathol 14:52-61, 1969.Crossref 27. Paddison RM, Moosy J, Derbes J, et al: Cockayne's syndrome . Dermatol Trop 2:195-203, 1963. 28. Broderick JD, Dark AJ: Corneal dystrophy in Cockayne's syndrome . Br J Ophthalmol 57:391-399, 1973.Crossref 29. Tympner K-D, Eichin F, Fendel H: Cockaynes Syndrom . Z Kinderheilkd 104:298-307, 1968.Crossref 30. Alton DJ, McDonald P, Reilly BJ: Cockayne's syndrome . Radiology 102:403-406, 1972.Crossref 31. Kosenow W, Heege-Dohr R: Cockayne-Syndrom . Fortschr Med 91:1257-1263, 1973. 32. Macdonald WB, Fitch KD, Lewis IC: Cockayne's syndrome: A heredofamilial disorder of growth and development . Pediatrics 25:997-1007, 1960. 33. Crome L, Kanjilal GC: Cockayne's syndrome: Case report . J Neurol Neurosurg Psychiatry 34:171-178, 1971.Crossref 34. Fujimoto WY, Greene ML, Seegmiller JE: Cockayne's syndrome: Report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone . J Pediatr 75:881-884, 1969.Crossref 35. Ohno T, Hirooka M: Renal lesions in Cockayne's syndrome . Tohuku J Exp Med 89:151-166, 1966.Crossref 36. Moosy J: The neuropathology of Cockayne's syndrome . J Neuropathol Exp Neurol 26:654-660, 1967.Crossref 37. Lieberman WJ, Schimek RA, Snyder CH: Cockayne's disease . Am J Ophthalmol 52:116-118, 1961. 38. Coles WH: Ocular manifestations of Cockayne's syndrome . Am J Ophthalmol 52:116-118, 1961. 39. Ufermann K, Heege-Dohr R, Kosenow W: Augenbeteiligung beim Cockayne-Syndrom . Klin Monatsbl Augenheilkd 162:655-658, 1973. 40. Marie J, Lévéque B, Hesse JC, et al: Nanisme avec rétinite pigmentaire et surdité syndrome de Cockayne . Sem Hop Paris 34:2808-2812, 1958. 41. Victor DI, Green WR, McClean A: The ocular and neuropathology of Cockayne-Neill--Dingwall syndrome. Abstract read by title, 5th Annual Child Neurology Society Meeting, October 1976. 42. Pfeiffer RA, Bachmann KD: An atypical case of Cockayne's syndrome . Clin Genet 4:28-32, 1973.Crossref 43. Riggs W Jr, Seibert J: Cockayne's syndrome . Am J Roentgenol 116:623-633, 1972.Crossref 44. Predescu V, Christodorescu D, Coltoiu A, et al: Syndrome de Cockayne . Arch Franc Ped 30:527-532, 1973. 45. Spark H: Cachectic dwarfism resembling the Cockayne-Neill type . J Pediatr 66:41-47, 1965.Crossref 46. Schönenberg H, Krohn K: Das Cockayne-Syndrom . Monatsschr Kinderheilkd 117:103-108, 1969. 47. Guzzetta F: La sindrome di Cockayne . Minerva Pediatr 19:891-895, 1967. 48. Franceschetti A, Francois J, Babel J: Les heredo-degenerescenses chorioretiniennes . Paris, Masson et Cie, 1963, pp 1153-1156. 49. Norman RM, Tingey H: Syndrome of microcephaly, striocerebellar calcifications, and leucodystrophy . J Neurol Neurosurg Psychiatry 29:157-163, 1966.Crossref 50. Urich H: Malformations of the nervous system, perinatal damage and related conditions in early life , in Blackwood W, Corsellis JAN (eds): Greenfield's Neuropathology . London, Edward Arnold Publishers Ltd, 1976, pp 361-469. 51. Land VJ, Nogrady MB: Cockayne's syndrome . J Can Assoc Radiol 20:194-203, 1969. 52. Roy S, Srivastava RN, Gupta PC, et al: Ultrastructure of peripheral in Cockayne's syndrome . Acta Neuropathol 24:345-349, 1973.Crossref 53. Chawla JC, Woodward J: Motor disorder in "normal pressure" hydrocephalus . Br Med J 1:485-486, 1972.Crossref 54. Hakim S, Venegas JG, Burton JD: The physics of the cranial cavity, hydrocephalus and normal pressure hydrocephalus: Mechanical interpretation and mathematical model . Surg Neurol 5:187-210, 1976. 55. Berger MP, Brumback RA: Pathophysiologic mechanisms of hydrocephalus . Dis Nerv Syst , 1977, to be published. 56. Yokovlev PI: Paraplegias of hydrocephalics . Am J Ment Defic 4:561-576, 1947. 57. James AE, New PFJ, Heinz ER, et al: A cisternographic classification of hydrocephalus . Am J Roetngenol 115:39-49, 1972.Crossref 58. Health examination survey data from the National Center for Health Statistics of the U.S. Department of Health, Education, and Welfare . Month Vital Stat Rep 25( (suppl) ):1-22, 1976. 59. Blackwood W: Normal structure and general pathology of the nerve cell and neuroglia , in Blackwood W, Corsellis JAN (eds): Greenfield's Neuropathology . London, Edward Arnold Publishers Ltd, 1976, pp 1-42. 60. Weller RO, Shulman K: Infantile hydrocephalus: Clinical, histological and ultrastructural study of brain damage . J Neurosurg 36:255-265, 1972.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Normal Pressure Hydrocephalus: Recognition and Relationship to Neurological Abnormalities in Cockayne's Syndrome

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1978.00500300011002
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Abstract

Abstract • Normal pressure hydrocephalus (NPH) in adults is a well-known cause of dementia. We describe NPH in children having the recessively inherited Cockayne's syndrome (CS). Cockayne's syndrome is characterized by cachectic dwarfism, neurological dysfunction, and cutaneous sunlight sensitivity. We noted that the NPH-associated triad of dementia, gait disturbance, and incontinence developed in CS patients. Computerized tomography of the brain in our four CS patients showed hydrocephalic enlargement of the brain ventricles greatest in the older patients. There was no evidence of cortical atrophy except in the one patient who had CS with xeroderma pigmentosum. Lumbar puncture and radionuclide cisternography in the two patients tested showed normal CSF pressure, with complete blockade to flow of radionuclide above the tentorium cerebelli, ventricular reflux, and delayed absorption. Studies of NPH in CS may elucidate the pathophysiology of NPH and methods to alter its sequelae. References 1. Hakim S: Algunas observaciones sobre la presion del L.C.R. sindrome hydrocefalico en el aulto con presion normal del L.C.R. (presentation de un neuvo sindrome), thesis. Facultad de Medicina, Universidad Javersiana, Bogota, Colombia, 1964. 2. Hakim S, Adams RD: The special problem of symptomatic hydrocephalus with normal cerebrospinal fluid pressure . J Neurol Sci 2:307-327, 1965.Crossref 3. Adams RD, Fisher CM, Hakim S, et al: Symptomatic occult hydrocephalus with "normal" cerebrospinal fluid pressure . N Engl J Med 273:117-126, 1965.Crossref 4. Wood JH, Bartlet D, James AE Jr, et al: Normal pressure hydrocephalus: Diagnosis and patient selection for surgery . Neurology 24:517-526, 1974.Crossref 5. Benson DF, LeMay M, Patten DH, et al: Diagnosis of normal pressure hydrocephalus . N Engl J Med 283:609-615, 1970.Crossref 6. Welch K: The principles of physiology of the cerebrospinal fluid in relation to hydrocephalus including normal pressure hydrocephalus , in Friedlander WJ (ed): Advances in Neurology . New York, Raven Press, 1975, vol 13, pp 247-332. 7. Katzman R: Cerebrospinal fluid physiology and normal pressure hydrocephalus , in Terry RD, Gershon S (eds): Neurobiology of Aging . New York, Raven Press, 1976, pp 139-153. 8. Stein BM, Fraser RAR, Tenner MS: Normal pressure hydrocephalus: Complication of posterior fossa surgery in children . Pediatrics 49:50-58, 1972. 9. Cockayne EA: Dwarfism with retinal atrophy and deafness . Arch Dis Child 11:1-8, 1936.Crossref 10. Cockayne EA: Case reports: Dwarfism with retinal atrophy and deafness . Arch Dis Child 21:52-54, 1946.Crossref 11. Neill CA, Dingwall MM: A syndrome resembling progeria: A review of two cases . Arch Dis Child 25:213-221, 1950.Crossref 12. Guzzetta F: Cockayne-Neill-Dingwall syndrome , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . Amsterdam, North Holland Publishing Co, 1972, vol 13, pp 431-440. 13. Moosa A, Dubowitz V: Peripheral neuropathy in Cockayne's syndrome . Arch Dis Child 45:674-677, 1970.Crossref 14. Schmickel RD, Chu EHY, Trosko J: The definition of a cellular defect in two patients with Cockayne syndrome . Pediatr Res 9:317, 1975. 15. Andrews AD, Barrett SF, Robbins JH: Relation of DNA repair processes to pathological aging of the nervous system in xeroderma pigmentosum . Lancet 1:1318-1320, 1976.Crossref 16. Andrews AD, Yoder FW, Barrett SF, et al: Cockayne's syndrome fibroblasts have decreased colony-forming ability but normal rates of unscheduled DNA synthesis after ultraviolet irradiation . Clin Res 24:624A, 1976. 17. Robbins JH, Kraemer KH, Lutzner MA, et al: Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair . Ann Intern Med 80:221-248, 1974.Crossref 18. Kleijer WJ, De Weerd-Kastelein EA, Sluyter ML, et al: UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum . Mutat Res 20:417-428, 1973.Crossref 19. Windmiller J, Whalley PJ, Fink CW: Cockayne's syndrome with chromosomal analysis . Am J Dis Child 105:204-208, 1963. 20. Noojin RO: Xeroderma pigmentosum treated with oral methoxsalen . Arch Dermatol 92:422-423, 1965.Crossref 21. Robbins JH, Kraemer KH, Andrews AD: Inherited DNA repair defects in H sapiens: Their relation to UV-associated processes in xeroderma pigmentosum , in Yuhas JM, Tennant RW, Regan JD (eds): Biology of Radiation Carcinogenesis . New York, Raven Press, 1976, pp 115-127. 22. Engel WK: "Myopathic EMG"—None such animal . N Engl J Med 289:486, 1973. 23. Pearce WG: Ocular and genetic features of Cockayne's syndrome . Canad J Ophthalmol 7:435-444, 1972. 24. Hernandez AL, de Leon B, de la Puente SG, et al: Lesiones renales ultraestructurales del sindrome de Cockayne . Rev Invest Clin 27:153-158, 1975. 25. Srivastava RN, Gupta PC, Mayekar G, et al: Cockayne's syndrome in two sisters . Acta Paediatr Scand 63:461-464, 1974.Crossref 26. Rowlatt U: Cockayne's syndrome: Report of a case with necropsy findings . Acta Neuropathol 14:52-61, 1969.Crossref 27. Paddison RM, Moosy J, Derbes J, et al: Cockayne's syndrome . Dermatol Trop 2:195-203, 1963. 28. Broderick JD, Dark AJ: Corneal dystrophy in Cockayne's syndrome . Br J Ophthalmol 57:391-399, 1973.Crossref 29. Tympner K-D, Eichin F, Fendel H: Cockaynes Syndrom . Z Kinderheilkd 104:298-307, 1968.Crossref 30. Alton DJ, McDonald P, Reilly BJ: Cockayne's syndrome . Radiology 102:403-406, 1972.Crossref 31. Kosenow W, Heege-Dohr R: Cockayne-Syndrom . Fortschr Med 91:1257-1263, 1973. 32. Macdonald WB, Fitch KD, Lewis IC: Cockayne's syndrome: A heredofamilial disorder of growth and development . Pediatrics 25:997-1007, 1960. 33. Crome L, Kanjilal GC: Cockayne's syndrome: Case report . J Neurol Neurosurg Psychiatry 34:171-178, 1971.Crossref 34. Fujimoto WY, Greene ML, Seegmiller JE: Cockayne's syndrome: Report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone . J Pediatr 75:881-884, 1969.Crossref 35. Ohno T, Hirooka M: Renal lesions in Cockayne's syndrome . Tohuku J Exp Med 89:151-166, 1966.Crossref 36. Moosy J: The neuropathology of Cockayne's syndrome . J Neuropathol Exp Neurol 26:654-660, 1967.Crossref 37. Lieberman WJ, Schimek RA, Snyder CH: Cockayne's disease . Am J Ophthalmol 52:116-118, 1961. 38. Coles WH: Ocular manifestations of Cockayne's syndrome . Am J Ophthalmol 52:116-118, 1961. 39. Ufermann K, Heege-Dohr R, Kosenow W: Augenbeteiligung beim Cockayne-Syndrom . Klin Monatsbl Augenheilkd 162:655-658, 1973. 40. Marie J, Lévéque B, Hesse JC, et al: Nanisme avec rétinite pigmentaire et surdité syndrome de Cockayne . Sem Hop Paris 34:2808-2812, 1958. 41. Victor DI, Green WR, McClean A: The ocular and neuropathology of Cockayne-Neill--Dingwall syndrome. Abstract read by title, 5th Annual Child Neurology Society Meeting, October 1976. 42. Pfeiffer RA, Bachmann KD: An atypical case of Cockayne's syndrome . Clin Genet 4:28-32, 1973.Crossref 43. Riggs W Jr, Seibert J: Cockayne's syndrome . Am J Roentgenol 116:623-633, 1972.Crossref 44. Predescu V, Christodorescu D, Coltoiu A, et al: Syndrome de Cockayne . Arch Franc Ped 30:527-532, 1973. 45. Spark H: Cachectic dwarfism resembling the Cockayne-Neill type . J Pediatr 66:41-47, 1965.Crossref 46. Schönenberg H, Krohn K: Das Cockayne-Syndrom . Monatsschr Kinderheilkd 117:103-108, 1969. 47. Guzzetta F: La sindrome di Cockayne . Minerva Pediatr 19:891-895, 1967. 48. Franceschetti A, Francois J, Babel J: Les heredo-degenerescenses chorioretiniennes . Paris, Masson et Cie, 1963, pp 1153-1156. 49. Norman RM, Tingey H: Syndrome of microcephaly, striocerebellar calcifications, and leucodystrophy . J Neurol Neurosurg Psychiatry 29:157-163, 1966.Crossref 50. Urich H: Malformations of the nervous system, perinatal damage and related conditions in early life , in Blackwood W, Corsellis JAN (eds): Greenfield's Neuropathology . London, Edward Arnold Publishers Ltd, 1976, pp 361-469. 51. Land VJ, Nogrady MB: Cockayne's syndrome . J Can Assoc Radiol 20:194-203, 1969. 52. Roy S, Srivastava RN, Gupta PC, et al: Ultrastructure of peripheral in Cockayne's syndrome . Acta Neuropathol 24:345-349, 1973.Crossref 53. Chawla JC, Woodward J: Motor disorder in "normal pressure" hydrocephalus . Br Med J 1:485-486, 1972.Crossref 54. Hakim S, Venegas JG, Burton JD: The physics of the cranial cavity, hydrocephalus and normal pressure hydrocephalus: Mechanical interpretation and mathematical model . Surg Neurol 5:187-210, 1976. 55. Berger MP, Brumback RA: Pathophysiologic mechanisms of hydrocephalus . Dis Nerv Syst , 1977, to be published. 56. Yokovlev PI: Paraplegias of hydrocephalics . Am J Ment Defic 4:561-576, 1947. 57. James AE, New PFJ, Heinz ER, et al: A cisternographic classification of hydrocephalus . Am J Roetngenol 115:39-49, 1972.Crossref 58. Health examination survey data from the National Center for Health Statistics of the U.S. Department of Health, Education, and Welfare . Month Vital Stat Rep 25( (suppl) ):1-22, 1976. 59. Blackwood W: Normal structure and general pathology of the nerve cell and neuroglia , in Blackwood W, Corsellis JAN (eds): Greenfield's Neuropathology . London, Edward Arnold Publishers Ltd, 1976, pp 1-42. 60. Weller RO, Shulman K: Infantile hydrocephalus: Clinical, histological and ultrastructural study of brain damage . J Neurosurg 36:255-265, 1972.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Jun 1, 1978

References