Abstract
We report the case of a boy with neuronal intranuclear inclusion disease in whom the diagnosis was made by examination of a rectal biopsy specimen. Intranuclear inclusions were observed in the Auerbach and Meissner plexuses. In an attempt to understand the physiopathology of this very rare disease, we performed polymerase chain reaction (PCR) and reverse transcriptase-PCR analysis for viral nucleic acids of human immunodeficiency virus type 1 (HIV-1), HIV-2, human cytomegalovirus and measles virus. No viral nucleic acids were detected in the biopsy specimen.
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Arrindell EL, Trobe JD, Sieving PA, Barnett JL (1991) Pupillary and electroretinographic abnormalities in a family with neuronal intranuclear hyaline inclusion disease. Arch Ophthalmol 109: 373–378
Barnett JL, McDonnell WM, Appelman HD, Dobbins WO (1992) Familial visceral neuropathy with neuronal intranuclear inclusions: diagnosis by rectal biopsy. Gastroenterology 102: 684–691
Brytting M, Xu W, Wahren B, Sundquist V (1992) Cytomegalovirus DNA detection in sera from patients with active cytomegalovirus infection. J Clin Microbiol 30: 1937–1941
Chomczynsky P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156–159
Funata N, Maeda Y, Koike M, Yano Y, Kaseda M, Muro T, Okeda R, Iwata M, Yokoji M (1990) Neuronal intranuclear hyaline inclusion disease: report of a case and review of the literature. Clin Neuropathol 9: 89–96
Garen PD, Powers JM, Young GF, Lee V (1986) Neuronal intranuclear hyaline inclusion disease in a nine year old. Acta Neuropathol (Berl) 70: 327–332
Godec MS, Asher DM, Swoveland PT, Eldadah ZA, Feinstone SM, Goldfarb LG, Gibbs CJ, Gajdusec DC (1990) Detection of measles virus genomic sequences in SSPE brain tissue by the polymerase chain reaction. J Med Virol 30: 237–244
Goutières F, Mikol J, Aicardi J (1990) Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy. Ann Neurol 27: 103–106
Haltia M, Somer H, Palo J, Johnson WG (1984) Neuronal intranuclear inclusion disease in identical twins. Ann Neurol 15: 316–321
Michaud J, Gilbert JJ (1981) Multiple system atrophy with neuronal intranuclear hyaline inclusions. Report of a new case with light and electron microscopic studies. Acta Neuropathol (Berl) 54: 113–119
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215
Munoz-Garcia D, Ludwin SK (1986) Adult-onset neuronal intranuclear hyaline inclusions associated with multisystem atrophy. Neurology 36: 785–790
Oyer CE, Cortez S, O’Shea P, Popovic M (1991) Cardiomyopathy and myocyte inclusions in neuronal intranuclear inclusion disease: a case report. Hum Pathol 22: 722–724
Palo J, Haltia M, Carpenter S, Karpati G, Mushynski W (1984) Neurofilament subunit-related proteins in neuronal intranuclear inclusions. Ann Neurol 15: 322–328
Parker JC Jr, Dyer ML, Paulsen WA (1987) Neuronal intranuclear hyaline inclusion disease associated with premature coronary atherosclerosis. J Clin Neuroophthalmol 7: 244–249
Patel H, Norman MG, Perry TL, Berry KE (1985) Multiple system atrophy with neuronal intranuclear hyaline inclusions. Report of a case and review of the literature. J Neurol Sci 67: 57–65
Schuffler MD, Bird TD, Sumi MS, Cook A (1978) A familial neuronal disease presenting as intestinal pseudo-obstruction. Gastroenterology 75: 889–898
Soffer D (1985) Neuronal intranuclear hyaline inclusion disease presenting as Friedreich’s ataxia. Acta Neuropathol (Berl) 65: 322–329
Sung JH, Ramirez-Lassepas M, Mastri AR, Larkin SM (1980) An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease). J Neuropathol Exp Neurol 39: 107–130
Tateishi J, Nagara H, Ohta M, Matsumoto T, Fukunaga H, Shida K (1984) Intranuclear inclusions in muscle, nervous tissue, and adrenal gland. Acta Neuropathol (Berl) 63: 24–32
Zazzi M, Romano L, Brasini A, Valensin PE (1992) Nested polymerase chain reaction for detection of human immunodeficiency virus type 1 DNA in clinical specimens. J Med Virol 38: 172–174
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Malandrini, A., Fabrizi, G.M., Cavallaro, T. et al. Neuronal intranuclear inclusion disease: Polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case. Acta Neuropathol 91, 215–218 (1996). https://doi.org/10.1007/s004010050417
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DOI: https://doi.org/10.1007/s004010050417