Domenico Battini and his description of congenital megacolon: A detailed case report one century before Hirschsprung

Journal of the Peripheral Nervous System

Volumn 3, Issue 3, 1998, Pages 197-206

  Fiori, Mario G ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

Author keywords

Congenital megacolon; Domenico Battini; Experimental aganglionosis; Genetic; Harald Hirschsprung; History of medicine

Indexed keywords

AGANGLIONOSIS; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CONSTIPATION; HIRSCHSPRUNG DISEASE; HUMAN; INTESTINE INNERVATION; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

HIRSCHSPRUNG DISEASE; HISTORY, 19TH CENTURY; HUMANS; ITALY; MALE; NEUROLOGY;

EID: 0031869505     PISSN: 10859489     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (90)

1. Hillemand P: Histoire de la gastroentérologie. In: Histoire de la Médecine, de la Pharmacie, de l'Art Dentaire et de l'Art Vétérinaire (Martiny M, Pecker A, Poulet J, Rullière R, Sournia J-C, eds). Paris: Société Française d'Éditions Professionnelles, Médicales et Scientifiques Albin Michel-Laffont-Tchou, 1980 (Italian Edition: Vol. 5, pp. 267-272. Bergamo: Walk Over Italiana, 1982).
2. Bodenhamer W: A Practical Treatise on the Etiology, Pathology, and Treatment of the Congenital Malformations of the Rectum and Anus. New York: S. & W. Wood, 1860.
3. Guersant MP: Surgical Diseases of Infants and Children (Dunglison RJ, transl). Philadelphia: Henry C. Lea, 1873.
4. Hirschsprung H: Stuhlträgheit Neuegeborener in Folge von Dilatation und Hypertrophie des Colons. Jahrb. Kinderheilk. 1887-1888; n. F. 27:1-7.
5. Roed-Petersen K, Erichsen G: The Danish pediatrician Harald Hirschsprung. Surgery Gynecol. Obstet. 1988; 166:181-185.
6. Frenckner B: Mannen bakom syndromet: Harald Hirschsprung. Pionjär för pediatrisk forskning - omtyckt kliniker, mindre värderad föreläsare. Läkartidningen 1983; 80:4664-4665.
7. Breathnach CS: Hirschsprung. Irish Med. J. 1987; 80:437.
8. Touloukian RJ: Pediatric surgery between 1860 and 1900. J. Pediatr. Surg. 1995; 30:911-916.
9. Jayle F: La dilatation congénitale idiopathique du colon. Presse Méd. 1909; 17:803-804.
10. Ruysch F: Observationum anatomico-chirurgicarum centuria. Accedit Catalogus rariorum, quae in Museo Ruyschiano asservantur. Adjectis ubique iconibus aeneis naturalem magnitudinem repraesentantibus. Amsterdam: Apud Henricum & viduam Theodori Boom, 1691, p. 118.
11. Ruysch F: Dilucidatio valvularum in vasis lymphaticis et lacteis. Accesserunt quaedam observationes anatomicae rariores. The Hague: ex officina Harmani Gael, 1665.
12. Leenders E, Sieber WK: Congenital megacolon, observation by Frederick Ruysch 1691. J. Pediatr. Surg. 1970; 5:1-3.
13. Morgagni JB: De Sedibus, et causis morborum per anatomen indagatis libri quinque. Venice: Typog. Remondiniana, 1761.
14. Monterossi P: Memoria sulle varietà delle piegature del colon. Verona: Ditta ed. N. Zanon, Bettoni & C., 1819.
15. Billard CM: Die Krankheiten der Neuegeborenen und Säuglinge. Weimar, 1829.
16. Bristowe JS: Clinical lecture on the consequences of long continued constipation. Br. Med. J. 1885; I:1085-1088.
17. Tonnini G: Megacolon congenito. Modena: Cooperativa Tipografi, 1924.
18. Latronico N: Storia della Pediatria. Torino: Minerva Medica, 1977, p. 409.
19. Gerini C: Rivendicazione italiana. Il megacolon congenito non "malattia di Hirschsprung," ma "malattia di Domenico Battini." Atti Soc. Toscana Sci. Nat., Processi Verbali 1928; 37:88-90.
20. Giannini A: Documentazione della priorità di Domenico Battini (1800) nella descrizione del megacolon congenito, così detto "Morbo di Hirschsprung" (1888). Atti Mem. Ace. Storia Arte Sanit. 1939; no. 5:222-238.
21. Crespi M: Battini, Domenico. In: Dizionario Biografico degli Italiani (Ghisalberti AM, ed). Roma: Istituto della Enciclopedia Italiana fondata da Giovanni Treccani, 1965, Vol. 7, pp. 247-248.
22. Battini D, Giovannelli G, Torrigiani F, Castellacci A: Costituzione epidemica di Firenze nell'inverno MDCCLXXX-MDCCLXXXI. Alla Soc. Reale di Medicina di Parigi. Firenze, 1781.
23. Battini D: Istoria di un'oftalmia combinata con stravasamento linfatico nella cellulare, ehe attacca la congiuntiva al globo dell'occhio, o sia di un edema caldo dell'occhio. Raccolta di opuscoli medico-pratici (Firenze) 1778; IV:69-88.
24. Battini D: Saggio sopra il catarro russo, o sia riflessioni mediche, e critichesopra la febbre catarrale benigna epidemica, ehe ha regnato in Europa nell'estate dell'anno 1782. Raccolta di opnscoli medico-pratici (Firenze) 1783: VII:53-92.
25. Masotti M: L'archivio storico di S. Maria Nuova a Firenze e la sua riunificazione. Arch. Star. Ital. 1989; 542:837-842.
26. Morandi U, Cairola A: Lo Spedale di Santa Maria della Scala. Siena, 1975.
27. Battini D: Ricerclie intorno alle acque minerali epatiche ed alla analisi chimica di diverse acque minerali dello Stato di Siena. Siena: dai Torchi Pazzini-Carli, 1793.
28. Dutour O, Pálfi G, Bérato J, Brun J-P (eds): L'origine de la syphilis en Europe: avant ou après 1493? Toulon/ Paris: Centre Archéologique du Var - Éditions Errance, 1994.
29. Bolande RP: The neurocristopathies; a unifying concept of disease arising in neural crest maldevelopment. Hum. Pathol. 1973; 5:409-429.
30. Horstadius S: The Neural Crest: Its Properties and Derivatives in the Light of Experimental Research. London: Oxford University Press, 1950.
31. Le Douarin NM: The Neural Crest. Cambridge: Cambridge University Press, 1982.
32. Payette RF, Tennyson VM, Pham TD, Mawe GM, Pomeranz HD, Rothman TP, Gershon MD: Origin and morphology of nerve fibers in the aganglionic colon of the lethal spotted (ls/ls) mutant mouse. J. Comp. Neurol. 1987; 257:237-252.
33. Langer JC, Betti P-A, Blennerhassett MG: Smooth muscle from aganglionic bowel in Hirschsprung's disease impairs neuronal development in vitro. Cell Tissue Res. 1994; 276:181-186.
34. Fromont-Hankard G, Lafer D, Masood S: Altered expression of α-smooth muscle isoactin in Hirschsprung's disease. Arch. Pathol. Lab. Med. 1996; 120: 270-274.
35. Newgreen DF, Hartley L: Extracellular matrix and adhesive molecules in the early development of the gut and its innervation in normal and spotting lethal rat embryos. Acta Anat. 1995; 154:243-260.
36. Meijers JHC, Tibboel D, van der Kamp AWM, van Haperen-Heuts ICCM, Klück P, Molenaar JC: The influence of the stage of differentiation of the gut on the migration of neural cells: an experimental study of Hirschsprung's disease. Pediatr. Res. 1987; 21:466-470.
37. Lipson A: Hirschsprung disease in the offspring of mothers exposed to hyperthermia during pregnancy. Amer. J. Med. Genet. 1988; 29:117-124.
38. Earlam R: A vascular cause for Hirschsprung's disease? Gastroenterology 1985; 88:1274-1276.
39. Taguchi T, Tanaka K, Ikeda K: Fibromuscular dysplasia of arteries in Hirschsprung's disease. Gastroenterology 1985; 88:1099-1103.
40. Murray MJ, Parker GA, White NA: Megacolon with myenteric hypoganglionosis in a foal. J. Am. Vet. Med. Assoc. 1988; 192:917-919.
41. Vizi ES, Zséli J, Kontor E, Feher E, Verebélyi T: Characteristics of cholinergic neuroeffector transmission of ganglionic and aganglionic colon in Hirschsprung's disease. Gut 1990; 31:1046-1050.
42. Okamoto E, Satani M, Kuwata K: Histologic and embryologic studies on the innervation of the pelvic viscera in patients with Hirschsprung's disease. Surgery Gynecol. Obstet. 1982; 155:823-828.
43. Driessen A, Creemers J, Geboes K: Anti-Leu-19 is a marker for nervous tissue in the mucosa of the human rectum. Acta Anat. 1995; 153:127-134.
44. Loening-Baucke V, Anderson RH, Yamada T, Zhu Y-X: Study of the afferent pathways from the rectum with a new distention control device. Neurology 1995; 45:1510-1516.
45. Loening-Baucke V, Yamada T: Is the afferent pathway from the rectum impaired in children with chronic constipation and encopresis? Gastroenterology 1995; 109:397-403.
46. Shija JK: The enigma of Hirschsprung's disease: an African experience. East Afr. Med. J. 1988; 65:438-445.
47. Ramón y Cajal S: Sur les ganglions et plexus nerveux de l'intestin. C. R. Séan. Soc. Biol. Paris 1893; 45:217-223.
48. Vanderwinden J-M, Rumessen JJ, Liu H, Descamps D, De Laet M-H, Vanderhaeghen J-J: Interstitial cells of Cajal in human colon and in Hirschsprung's disease. Gastroenterology 1996; 111:901-910.
49. Ishikawa K, Komuro T: Characterization of the interstitial cells associated with the submuscular plexus of the guinea-pig colon. Anat. Embryol. 1996; 194:49-55.
50. Young HM, Ciampoli D, Southwell BR, Newgreen DF: Origin of interstitial cells of Cajal in the mouse intestine. Dev. Biol. 1996; 180:97-107.
51. Vannucchi MG, De Giorgio R, Faussone-Pellegrini MS: NK1 receptor expression in the interstitial cells of Cajal and neurons and tachykinins distribution in rat ileum during development. J. Comp. Neurol. 1997; 383:153-162.
52. Larsson LT: Hirschsprung's disease - immunohistochemical findings. Histol. Histopathol. 1994; 9:615-629.
53. Sang Q, Young HM: Chemical coding of neurons in the myenteric plexus and external muscle of the small and large intestine of the mouse. Cell Tissue Res. 1996; 284:39-53.
54. Larsson LT, Malmfors G, Ekblad E, Ekman R, Sundler F: NPY hyperinnervation in Hirschsprung's disease: both adrenergic and non-adrenergic fibers contribute. J. Pediatr. Surg. 1991; 26:1207-1214.
55. Domoto T, Gonda T, Oki M: Distribution of extrinsic nerves containing vasoactive intestinal polypeptide-like immunoreactivity in the aganglionic bowel of the congenital aganglionosis rats. Biomed. Res. (India) 1992; 3:65-77.
56. Larsson LT, Sundler F: Is the reduction of VIP the clue to the pathophysiology of Hirschsprung's disease? Z. Kinderchir. 1990; 45:164-166.
57. Larsson LT, Shen Z, Ekblad E, Sundler F, Aim P, Andersson KE: Lack of neuronal nitric oxide synthase in nerve fibers of aganglionic intestine: a clue to Hirschsprung's disease. J. Pediatr. Gastroenterol. Nutr. 1995; 20:49-53.
58. Guo R, Nada O, Suita S, Taguchi T, Masumoto K: The distribution and co-localization of nitric oxide synthase and vasoactive intestinal polypeptide in nerves of the colons with Hirschsprung's disease. Virchows Arch. 1997;430:53-61.
59. Gelfond M, Rozen P, Gilat T: Isosorbide dinitrate and nifedipine treatment of achalasia: a clinical, manometric and radionuclide evaluation. Gastroenterology 1982; 83:963-69.
60. Bealer JF, Natuzzi ES, Flake AW, Adzick NS, Harrison MR: Effect of nitric oxide on the colonic smooth muscle of patients with Hirschsprung's disease. J. Pediatr. Surg. 1994; 29:1025-029.
61. Schürmann G, Bishop AE, Facer P, Eder U, FischerColbrie R, Winkler H, Polak JM: Secretoneurin: a new peptide in the human enteric nervous system. Histochem. Cell Biol. 1995; 104:11-19.
62. Spouge D, Baird PA: Hirschsprung disease in a large birth cohort. Teratology 1985; 32:171-177.
63. Boley SJ, Dinari G, Cohen M: Hirschsprung disease in the newborn. Clin. Perinatol. 1978; 5:45-60.
64. Senyüz OF, Danismend N, Erdogan E, Özbay G, Büyükünal C: Total intestinal aganglionosis with involvement of the stomach. Pediatr. Surg. Int. 1988; 3:74-75.
65. Bodian M, Carter CO: A familial study of Hirschsprung's disease. Ann. Hum. Genet. 1963; 26:261-277.
66. Schiller M, Levy P, Shawa RA, Abu-Dalu K, Gorenstein A, Katz S: Familial Hirschsprung's disease. A report of 22 affected siblings in four families. J. Pediatr. Surg. 1990; 25:322-325.
67. Hannon RJ, Boston VE: Discordant Hirschsprung's disease in monozygotic twins: a clue to pathogenesis? J. Pediatr. Surg. 1988; 23:1034-1035.
68. Badner JA, Sieber WK, Garver KL, Chakravarti A: A genetic study of Hirschsprung disease. Am. J. Hum. Genet. 1990; 46:568-580.
69. Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberg EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE, Sieber W, Chakravarti A: A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nature Genet. 1993; 4:351-356.
70. Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard ML, Mok-Siu V, Kääriäinen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G: A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genet. 1993; 4:346-350.
71. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékété C, Ponder BAJ, Munnich A: Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 1994; 367:378-380.
72. Edery P, Pelet A, Mulligan LM, Abel L, Attié T, Dow E, Bonneau D, David A, Flintoff W, Jan D, Journel H, Lacombe D, Le Merrer M, Meijers C, Parent P, Philip N, Plauchu H, Sarda P, Verloes A, Nihoul-Fékété C, Williamson R, Ponder BAJ, Munnich A, Lyonnet S: Long segment and short segment familial Hirschsprung's disease: variable clinical expression of the RET locus. J. Med. Genet. 1994; 31:602-606.
73. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H, Martucciello G: Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994; 367:377-378.
74. Angrist M, Bolk S, Thiel B, Puffenberg EG, Hofstra RM, Buys CHC, Cass DT, Chakravarti A: Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Mol. Genet. 1995; 4:821-830.
75. Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A, Ponder BAJ, Lyonnet S: Diversity of RET protooncogene mutations in familial and sporadic Hirschsprung disease. Hum. Mol. Genet. 1995; 4:1381-1396.
76. Ikeda I, Ishizaka Y, Tahira T: Specific expression of the ret proto-oncogene in human neuroblastoma cell lines. Oncogene 1990; 5:1291-1296.
77. Schuchardt A, D'Agati V, Larsson-Blomberg L, Costantini F, Pachnis V: Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 1994; 367:380-383.
78. Webster W: Aganglionic megacolon in Piebald-lethal mice. Arch. Pathol. 1974; 97:111-117.
79. Hosoda K, Hammer RE, Richardson JA, Baynash AG, Cheung JC, Giaid A, Yanagisawa M: Targeted and natural (Piebald-Lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 1994; 79:1267-1276.
80. Puffenberger EG, Hosoda K, Washington SS, Nakao K, de Wit D, Yanagisawa M, Chakravarti A: A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994; 79:1257-1266.
81. Arai H, Nakao K, Takaya K, Hosoda K, Ogawa Y, Nakanishi S, Imura H: The human endothelin-B receptor gene: structural organization and chromosomal assignment. J. Biol. Chem. 1993; 268:3463-3470.
82. Kiss P, Osztovics M: Association of 13q deletion and Hirschsprung's disease. J. Med. Genet. 1989; 26:793-794.
83. Bottani A, Xie Y, Binkert F: A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13) (q32.3q33.2): potential mapping of one disease locus, Hum. Genet. 1991; 87:748-750.
84. Omenn GS, McKusick VA: Association of Waardenburg syndrome and Hirschsprung megacolon. Am. J. Med. Genet. 1979; 3:217-223.
85. Webster W: Embryogenesis of the enteric ganglia in normal mice and in mice that develop congenital megacolon. J. Embryol. Exp. Morphol. 1973; 30:573-585.
86. Hofstra RMW, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg E-J, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CHCM: A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genet. 1996; 12:445-447.
87. Eng C: The RET Proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N. Engl. J. Med. 1996; 335:943-951.
88. Lesser PB, El-Nahas AM, Luke P: Adult-onset Hirschsprung's disease. J.A.M.A. 1979; 242:742-752.
89. Policy TZ, Coran AG: Hirschsprung's disease in the newborn. Pediatr. Surg. Int. 1986; 1:80-83.
90. Marra B, Boscaino A, Cice MR, Moscatiello M, Bruzzese E, Allocea C: Il megacolon agangliare nell'adulto. Acta Chir. Ital. 1988; 44:207-211.