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Pupillary and Electroretinographic Abnormalities in a Family With Neuronal Intranuclear Hyaline Inclusion Disease

Pupillary and Electroretinographic Abnormalities in a Family With Neuronal Intranuclear Hyaline... Abstract • Abnormal pupillary function and a severely depressed electroretinogram were found in four members of a family with neuronal intranuclear hyaline inclusion disease, an idiopathic degenerative disorder that involves the central and peripheral nervous systems. Symptoms were limited to the gastrointestinal system and consisted principally of abdominal pain, constipation, and severe weight loss. The discovery of light-fixed pupils in the propositus led to the first antemortem diagnosis by rectal biopsy in two generations of this family. Abnormalities of gastrointestinal motility and pupillary reactions constituted the only objective evidence of autonomic dysfunction; the abnormal electroretinogram was the only evidence of central nervous system dysfunction. References 1. Lindenberg R, Rubinstein LJ, Hermann MM, Haydon GB. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease: a possible residuum of an old herpes virus infection . Acta Neuropathol (Berl) . 1968;10:54-73.Crossref 2. Schuffler MD, Bird TD, Sumi SM, Cook A. A familial neuronal disease presenting as intestinal pseudo-obstruction . Gastroenterology . 1978;75:889-898. 3. Sung JH, Ramirez-Lassepas M, Mastri AR, Larkin SM. An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease): a clinicopathological study of a case . J Neuropathol Exp Neurol . 1980;39:107-130.Crossref 4. Sung JH. Light, fluorescence, and electron microscopic features of neuronal intranuclear hyaline inclusions associated with multisystem atrophy . Acta Neuropathol (Berl) . 1980;50:115-120.Crossref 5. Michaud J, Gilbert JJ. Multiple system atrophy with neuronal intranuclear hyaline inclusions: report of a new case with light and electron microscopic studies . Acta Neuropathol (Berl) . 1981;54:113-119.Crossref 6. Waggener JD, Beggs J, Sidell AD. Virus-like filaments in juvenile parkinsonism . J Neuropathol Exp Neurol . 1972;31:187. 7. Janota I. Widespread intranuclear neuronal corpuscles (Marinesco bodies) associated with a familial spinal degeneration with cranial and peripheral nerve involvement . Neuropathol Appl Neurobiol . 1979;5:311-317.Crossref 8. Haltia M, Somer H, Palo J, Johnson WG. Neuronal intranuclear inclusion disease in identical twins . Ann Neurol . 1984;15:316-321.Crossref 9. Parker JC Jr. Sporadic spinocerebellar degeneration associated with intranuclear neuronal inclusions and arteriosclerotic heart disease . J Neuropathol Exp Neurol . 1983;42:352.Crossref 10. Patel H, Norman MG, Perry TL, Berry KE. Multiple system atrophy with neuronal intranuclear hyaline inclusions: report of a case and review of the literature . J Neurol Sci . 1985;67:57-65.Crossref 11. Soffer D. Neuronal intranuclear hyaline inclusion disease presenting as Friedreich's ataxia . Acta Neuropathol (Berl) . 1985;65:322-329.Crossref 12. Munoz-Garcia D, Ludwin SK. Adult-onset neuronal intranuclear hyaline inclusion disease . Neurology . 1986;36:785-790.Crossref 13. Tateishi J, Nagara H, Ohta M, Matsumoto T, Fukunaga H, Shida K. Intranuclear inclusions in muscle, nervous tissue, and adrenal gland . Acta Neuropathol (Berl) . 1984;63:24-32.Crossref 14. Garen PD, Powers JM, Young GF, Lee V. Neuronal intranuclear hyaline inclusion disease in a nine year old . Acta Neuropathol (Berl) . 1986;70:327-332.Crossref 15. Goutieres F, Mikol J, Aicardi J. Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy . Ann Neurol . 1990;27:103-106.Crossref 16. Weleber RG. The effect of age on human cone and rod Ganzfeld electroretinograms . Invest Ophthalmol Vis Sci . 1981;20:392-399. 17. Farnsworth D. The Farnsworth Dichotomous Test for Color Blindness—Panel D-15 . New York, NY: Psychological Corp; 1947: chap 5, 7 . 18. Ewing DJ, Clarke BF. Diagnosis and management of diabetic autonomic neuropathy . BMJ . 1982;285:916-918.Crossref 19. Haltia M, Tarkkanen A, Somer H, Palo J, Karli H. Neuronal intranuclear inclusion disease: clinical ophthalmological features and ophthalmic pathology . Acta Ophthalmol (Copenh) . 1986;64:637-643.Crossref 20. Dowling JE. The Retina: An Approachable Part of the Brain . Cambridge, Mass: Belknap Press; 1987: chap 6 . 21. Penn RD, Hagins WA. Signal transmission along retinal rods and the origin of the electroretinographic a-wave . Nature . 1969;223:201-205.Crossref 22. Kish SJ, Gilbert JJ, Chang LJ, Mirchandani L, Shannak K, Hornykiewicz O. Brain neurotransmitter abnormalities in neuronal intranuclear inclusion body disorder . Ann Neurol . 1985;17:405-407.Crossref 23. Jaffe MJ, Bruno G, Campbell G, Lavine RA, Karson CM, Weinberger DR. Ganzfeld electreoretinographic findings in parkinsonism: untreated patients and the effect of levodopa intravenous infusion . J Neurol Neurosurg Psychiatry . 1987;50:847-852.Crossref 24. Gottlob I, Schneider E, Heider W, Skrandies W. Alteration of visual evoked potentials and electroretinograms in Parkinson's disease . Electroencephalogr Clin Neurophysiol . 1987;66:349-357.Crossref 25. Palo J, Haltia M, Carpenter S, Karpati G, Mushynski W. Neurofilament subunit-related proteins in neuronal intranuclear inclusions . Ann Neurol . 1984;15:322-328.Crossref 26. Shy GM, Drager GA. A neurological syndrome associated with orthostatic hypotension: a clinical-pathologic study . Arch Neurol . 1960;2:511-527.Crossref 27. Nirankari VS, Khurana RK, Lakhanpal V. Ocular manifestations of Shy-Drager syndrome . Ann Ophthalmol . 1982;14:635-638. 28. Cockel R, Hill EE, Rushton DI, Smith B, Hawkins CF. Familial steatorrhoea with calcification of the basal ganglia and mental retardation . Q J Med . 1973;42:771-783. 29. Faber J, Fich A, Steinberg A, et al. Familial intestinal pseudo-obstruction dominated by a progressive neurologic disease at a young age . Gastroenterology . 1987;92:786-790. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Pupillary and Electroretinographic Abnormalities in a Family With Neuronal Intranuclear Hyaline Inclusion Disease

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Publisher
American Medical Association
Copyright
Copyright © 1991 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1991.01080030075043
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Abstract

Abstract • Abnormal pupillary function and a severely depressed electroretinogram were found in four members of a family with neuronal intranuclear hyaline inclusion disease, an idiopathic degenerative disorder that involves the central and peripheral nervous systems. Symptoms were limited to the gastrointestinal system and consisted principally of abdominal pain, constipation, and severe weight loss. The discovery of light-fixed pupils in the propositus led to the first antemortem diagnosis by rectal biopsy in two generations of this family. Abnormalities of gastrointestinal motility and pupillary reactions constituted the only objective evidence of autonomic dysfunction; the abnormal electroretinogram was the only evidence of central nervous system dysfunction. References 1. Lindenberg R, Rubinstein LJ, Hermann MM, Haydon GB. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease: a possible residuum of an old herpes virus infection . Acta Neuropathol (Berl) . 1968;10:54-73.Crossref 2. Schuffler MD, Bird TD, Sumi SM, Cook A. A familial neuronal disease presenting as intestinal pseudo-obstruction . Gastroenterology . 1978;75:889-898. 3. Sung JH, Ramirez-Lassepas M, Mastri AR, Larkin SM. An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease): a clinicopathological study of a case . J Neuropathol Exp Neurol . 1980;39:107-130.Crossref 4. Sung JH. Light, fluorescence, and electron microscopic features of neuronal intranuclear hyaline inclusions associated with multisystem atrophy . Acta Neuropathol (Berl) . 1980;50:115-120.Crossref 5. Michaud J, Gilbert JJ. Multiple system atrophy with neuronal intranuclear hyaline inclusions: report of a new case with light and electron microscopic studies . Acta Neuropathol (Berl) . 1981;54:113-119.Crossref 6. Waggener JD, Beggs J, Sidell AD. Virus-like filaments in juvenile parkinsonism . J Neuropathol Exp Neurol . 1972;31:187. 7. Janota I. Widespread intranuclear neuronal corpuscles (Marinesco bodies) associated with a familial spinal degeneration with cranial and peripheral nerve involvement . Neuropathol Appl Neurobiol . 1979;5:311-317.Crossref 8. Haltia M, Somer H, Palo J, Johnson WG. Neuronal intranuclear inclusion disease in identical twins . Ann Neurol . 1984;15:316-321.Crossref 9. Parker JC Jr. Sporadic spinocerebellar degeneration associated with intranuclear neuronal inclusions and arteriosclerotic heart disease . J Neuropathol Exp Neurol . 1983;42:352.Crossref 10. Patel H, Norman MG, Perry TL, Berry KE. Multiple system atrophy with neuronal intranuclear hyaline inclusions: report of a case and review of the literature . J Neurol Sci . 1985;67:57-65.Crossref 11. Soffer D. Neuronal intranuclear hyaline inclusion disease presenting as Friedreich's ataxia . Acta Neuropathol (Berl) . 1985;65:322-329.Crossref 12. Munoz-Garcia D, Ludwin SK. Adult-onset neuronal intranuclear hyaline inclusion disease . Neurology . 1986;36:785-790.Crossref 13. Tateishi J, Nagara H, Ohta M, Matsumoto T, Fukunaga H, Shida K. Intranuclear inclusions in muscle, nervous tissue, and adrenal gland . Acta Neuropathol (Berl) . 1984;63:24-32.Crossref 14. Garen PD, Powers JM, Young GF, Lee V. Neuronal intranuclear hyaline inclusion disease in a nine year old . Acta Neuropathol (Berl) . 1986;70:327-332.Crossref 15. Goutieres F, Mikol J, Aicardi J. Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy . Ann Neurol . 1990;27:103-106.Crossref 16. Weleber RG. The effect of age on human cone and rod Ganzfeld electroretinograms . Invest Ophthalmol Vis Sci . 1981;20:392-399. 17. Farnsworth D. The Farnsworth Dichotomous Test for Color Blindness—Panel D-15 . New York, NY: Psychological Corp; 1947: chap 5, 7 . 18. Ewing DJ, Clarke BF. Diagnosis and management of diabetic autonomic neuropathy . BMJ . 1982;285:916-918.Crossref 19. Haltia M, Tarkkanen A, Somer H, Palo J, Karli H. Neuronal intranuclear inclusion disease: clinical ophthalmological features and ophthalmic pathology . Acta Ophthalmol (Copenh) . 1986;64:637-643.Crossref 20. Dowling JE. The Retina: An Approachable Part of the Brain . Cambridge, Mass: Belknap Press; 1987: chap 6 . 21. Penn RD, Hagins WA. Signal transmission along retinal rods and the origin of the electroretinographic a-wave . Nature . 1969;223:201-205.Crossref 22. Kish SJ, Gilbert JJ, Chang LJ, Mirchandani L, Shannak K, Hornykiewicz O. Brain neurotransmitter abnormalities in neuronal intranuclear inclusion body disorder . Ann Neurol . 1985;17:405-407.Crossref 23. Jaffe MJ, Bruno G, Campbell G, Lavine RA, Karson CM, Weinberger DR. Ganzfeld electreoretinographic findings in parkinsonism: untreated patients and the effect of levodopa intravenous infusion . J Neurol Neurosurg Psychiatry . 1987;50:847-852.Crossref 24. Gottlob I, Schneider E, Heider W, Skrandies W. Alteration of visual evoked potentials and electroretinograms in Parkinson's disease . Electroencephalogr Clin Neurophysiol . 1987;66:349-357.Crossref 25. Palo J, Haltia M, Carpenter S, Karpati G, Mushynski W. Neurofilament subunit-related proteins in neuronal intranuclear inclusions . Ann Neurol . 1984;15:322-328.Crossref 26. Shy GM, Drager GA. A neurological syndrome associated with orthostatic hypotension: a clinical-pathologic study . Arch Neurol . 1960;2:511-527.Crossref 27. Nirankari VS, Khurana RK, Lakhanpal V. Ocular manifestations of Shy-Drager syndrome . Ann Ophthalmol . 1982;14:635-638. 28. Cockel R, Hill EE, Rushton DI, Smith B, Hawkins CF. Familial steatorrhoea with calcification of the basal ganglia and mental retardation . Q J Med . 1973;42:771-783. 29. Faber J, Fich A, Steinberg A, et al. Familial intestinal pseudo-obstruction dominated by a progressive neurologic disease at a young age . Gastroenterology . 1987;92:786-790.

Journal

Archives of Ophthalmology – American Medical Association

Published: Mar 1, 1991

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