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Volumn 179, Issue 2-3, 2008, Pages

An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature

Author keywords

Cerebellar vermis hypoplasia; Forensic pathology; Joubert syndrome; Neurodegeneration; Unexpected infant death

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; HISTOPATHOLOGY; HUMAN; HYPOPLASIA; IMMUNOHISTOCHEMISTRY; INFANT; JOUBERT SYNDROME; NERVE DEGENERATION; PRIORITY JOURNAL; RESUSCITATION; SUDDEN DEATH;

EID: 47749101191     PISSN: 03790738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.forsciint.2008.06.003     Document Type: Article
Times cited : (8)

References (54)
  • 3
    • 33745777872 scopus 로고    scopus 로고
    • Cerebellar fits in children with Chiari I malformation
    • Pandey A., Robinson S., and Cohen A.R. Cerebellar fits in children with Chiari I malformation. Neurosurg. Focus 11 (2001) 4
    • (2001) Neurosurg. Focus , vol.11 , pp. 4
    • Pandey, A.1    Robinson, S.2    Cohen, A.R.3
  • 4
    • 0019292986 scopus 로고
    • Pathophysiologic mechanisms causing sleep apnea and hypoventilation in infants
    • Shannon D.C. Pathophysiologic mechanisms causing sleep apnea and hypoventilation in infants. Sleep 3 (1980) 343-349
    • (1980) Sleep , vol.3 , pp. 343-349
    • Shannon, D.C.1
  • 5
    • 0014572497 scopus 로고
    • Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
    • Joubert M., Eisenring J., Robb J.P., and Andermann F. Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19 (1969) 813-815
    • (1969) Neurology , vol.19 , pp. 813-815
    • Joubert, M.1    Eisenring, J.2    Robb, J.P.3    Andermann, F.4
  • 8
    • 0242362727 scopus 로고    scopus 로고
    • Acute respiratory distress syndrome
    • Chen H.I., Kao S.J., and Wang D. Acute respiratory distress syndrome. J. Biomed. Sci. 10 (2003) 588-592
    • (2003) J. Biomed. Sci. , vol.10 , pp. 588-592
    • Chen, H.I.1    Kao, S.J.2    Wang, D.3
  • 9
    • 0017577011 scopus 로고
    • Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis
    • Boltshauser E., and Isler W. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie 8 (1977) 57-66
    • (1977) Neuropadiatrie , vol.8 , pp. 57-66
    • Boltshauser, E.1    Isler, W.2
  • 10
    • 0031438402 scopus 로고    scopus 로고
    • "Joubert syndrome" revised: key ocular motor signs with magnetic resonance imaging correlation
    • Maria B.L., Hoang K.B., and Tusa R.J. "Joubert syndrome" revised: key ocular motor signs with magnetic resonance imaging correlation. J. Child Neurol. 12 (1997) 423-430
    • (1997) J. Child Neurol. , vol.12 , pp. 423-430
    • Maria, B.L.1    Hoang, K.B.2    Tusa, R.J.3
  • 11
    • 0025150331 scopus 로고
    • Joubert syndrome: review of the 53 cases so far published
    • Cantani A., Lucenti P., and Ronzani G.A. Joubert syndrome: review of the 53 cases so far published. Ann. Genet. 33 (1990) 96-98
    • (1990) Ann. Genet. , vol.33 , pp. 96-98
    • Cantani, A.1    Lucenti, P.2    Ronzani, G.A.3
  • 13
    • 0027458866 scopus 로고
    • Joubert syndrome associated with Leber amaurosis and multicystic kidneys
    • Ivarsson S.A., Bjerre I., and Brun A. Joubert syndrome associated with Leber amaurosis and multicystic kidneys. Am. J. Med. Genet. 45 (1993) 542-547
    • (1993) Am. J. Med. Genet. , vol.45 , pp. 542-547
    • Ivarsson, S.A.1    Bjerre, I.2    Brun, A.3
  • 14
    • 10744229593 scopus 로고    scopus 로고
    • Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
    • Gleeson J.G., Keeler L.C., and Parisi M.A. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am. J. Med. Genet. A 125 (2004) 125-134
    • (2004) Am. J. Med. Genet. A , vol.125 , pp. 125-134
    • Gleeson, J.G.1    Keeler, L.C.2    Parisi, M.A.3
  • 15
    • 0034009515 scopus 로고    scopus 로고
    • A case of Joubert's syndrome with extensive cerebral malformations
    • ten Donkelaar H.J., Hoevenaars F., and Wesseling P. A case of Joubert's syndrome with extensive cerebral malformations. Clin. Neuropathol. 19 (2000) 85-93
    • (2000) Clin. Neuropathol. , vol.19 , pp. 85-93
    • ten Donkelaar, H.J.1    Hoevenaars, F.2    Wesseling, P.3
  • 16
    • 0033850382 scopus 로고    scopus 로고
    • Immunohistochemical investigation of a pulmonary surfactant in fatal mechanical asphyxia
    • Zhu B.L., Ishida K., Fujita M.Q., and Maeda H. Immunohistochemical investigation of a pulmonary surfactant in fatal mechanical asphyxia. Int. J. Legal Med. 113 (2000) 268-271
    • (2000) Int. J. Legal Med. , vol.113 , pp. 268-271
    • Zhu, B.L.1    Ishida, K.2    Fujita, M.Q.3    Maeda, H.4
  • 17
    • 0034842106 scopus 로고    scopus 로고
    • Immunohistochemistry of pulmonary surfactant-associated protein A in acute respiratory distress syndrome
    • Zhu B.L., Ishida K., Quan L., Fujita M.Q., and Maeda H. Immunohistochemistry of pulmonary surfactant-associated protein A in acute respiratory distress syndrome. Leg. Med. 3 (2001) 134-140
    • (2001) Leg. Med. , vol.3 , pp. 134-140
    • Zhu, B.L.1    Ishida, K.2    Quan, L.3    Fujita, M.Q.4    Maeda, H.5
  • 18
    • 0035500337 scopus 로고    scopus 로고
    • Screening of milk aspiration in 105 infant death cases by immunostaining with anti-human α-lactalbumin antibody
    • Iwadate K., Doy M., and Ito Y. Screening of milk aspiration in 105 infant death cases by immunostaining with anti-human α-lactalbumin antibody. Forensic Sci. Int. 122 (2001) 95-100
    • (2001) Forensic Sci. Int. , vol.122 , pp. 95-100
    • Iwadate, K.1    Doy, M.2    Ito, Y.3
  • 19
  • 20
    • 0030744352 scopus 로고    scopus 로고
    • Detection of enteroviral RNA and specific DNA of herpesviruses by multiplex genome amplification
    • Casas I., Tenorio A., Echevarria J.M., Klapper P.E., and Cleator G.M. Detection of enteroviral RNA and specific DNA of herpesviruses by multiplex genome amplification. J. Virol. Methods 66 (1997) 39-50
    • (1997) J. Virol. Methods , vol.66 , pp. 39-50
    • Casas, I.1    Tenorio, A.2    Echevarria, J.M.3    Klapper, P.E.4    Cleator, G.M.5
  • 22
    • 0026332330 scopus 로고
    • Postmortem neopterin concentrations: comparison of diagnoses with and without cellular immunological background
    • Ambach E., Tributsch W., Rabl W., Fuchs D., Reibnegger G., Henn R., and Wachter H. Postmortem neopterin concentrations: comparison of diagnoses with and without cellular immunological background. Int. J. Legal Med. 104 (1991) 259-262
    • (1991) Int. J. Legal Med. , vol.104 , pp. 259-262
    • Ambach, E.1    Tributsch, W.2    Rabl, W.3    Fuchs, D.4    Reibnegger, G.5    Henn, R.6    Wachter, H.7
  • 25
    • 0033358738 scopus 로고    scopus 로고
    • Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
    • Saar K., Al-Gazali L., Sztriha L., Rueschendorf F., Nur-e-Kamal M., Reis A., and Bayoumi R. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 65 (1999) 1666-1671
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1666-1671
    • Saar, K.1    Al-Gazali, L.2    Sztriha, L.3    Rueschendorf, F.4    Nur-e-Kamal, M.5    Reis, A.6    Bayoumi, R.7
  • 27
    • 0033358738 scopus 로고    scopus 로고
    • Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
    • Saar K., Al-Gazali L., and Sztriha L. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 65 (1999) 1666-1671
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1666-1671
    • Saar, K.1    Al-Gazali, L.2    Sztriha, L.3
  • 28
    • 0037154038 scopus 로고    scopus 로고
    • Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1
    • Blair I.P., Gibson R.R., and Benett C.L. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am. J. Med. Genet. 22 (2002) 190-196
    • (2002) Am. J. Med. Genet. , vol.22 , pp. 190-196
    • Blair, I.P.1    Gibson, R.R.2    Benett, C.L.3
  • 29
    • 47749116926 scopus 로고
    • Oxycephalie avec agenesie de la commissure calleuse et du vermis inferieur
    • Lhermitte J., Ajuriaguerra J., and Trotot R.P. Oxycephalie avec agenesie de la commissure calleuse et du vermis inferieur. Rev. Neurol. 76 (1944) 146
    • (1944) Rev. Neurol. , vol.76 , pp. 146
    • Lhermitte, J.1    Ajuriaguerra, J.2    Trotot, R.P.3
  • 30
    • 85168045416 scopus 로고    scopus 로고
    • A. Brodal, Defective development of the cerebellar vermis (partial agenesis) in a child, Norske Vid Akad (Oslo) I Mat Naturv Klasse 3 (1945) 5-40.
    • A. Brodal, Defective development of the cerebellar vermis (partial agenesis) in a child, Norske Vid Akad (Oslo) I Mat Naturv Klasse 3 (1945) 5-40.
  • 31
    • 84990358504 scopus 로고
    • Agenesie partielle du vermis du cervelet a caractere familial
    • De Haene A. Agenesie partielle du vermis du cervelet a caractere familial. Acta Neurol. 55 (1955) 622
    • (1955) Acta Neurol. , vol.55 , pp. 622
    • De Haene, A.1
  • 32
    • 34347201048 scopus 로고
    • Etudes sur les dysraphies cranioencephaliques. VIII. Dysraphies du diencephale, de la loge hypophysaire, du telencephale inferieur et du cervelet
    • De Morsier G., and Laville F. Etudes sur les dysraphies cranioencephaliques. VIII. Dysraphies du diencephale, de la loge hypophysaire, du telencephale inferieur et du cervelet. Acta Neuroveg. 23 (1962) 443
    • (1962) Acta Neuroveg. , vol.23 , pp. 443
    • De Morsier, G.1    Laville, F.2
  • 33
    • 0020066915 scopus 로고
    • Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case
    • Michaud J., Mizrahi E.M., and Urich H. Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case. Acta Neuropathol. 56 (1982) 161-166
    • (1982) Acta Neuropathol. , vol.56 , pp. 161-166
    • Michaud, J.1    Mizrahi, E.M.2    Urich, H.3
  • 36
    • 0023950605 scopus 로고
    • Cerebro-ocular dysplasia and muscular dystrophy: report of two cases
    • Federico A., Dotti M.T., and Malandrini A. Cerebro-ocular dysplasia and muscular dystrophy: report of two cases. Neuropediatrics 19 (1988) 109-112
    • (1988) Neuropediatrics , vol.19 , pp. 109-112
    • Federico, A.1    Dotti, M.T.2    Malandrini, A.3
  • 37
    • 27744507083 scopus 로고    scopus 로고
    • Pulmonary aspiration of gastric contents and the sudden infant death syndrome
    • Alex N., Thompson J.M., Becroft D.M., and Mitchell E.A. Pulmonary aspiration of gastric contents and the sudden infant death syndrome. J. Paediatr. Child Health 41 (2005) 428-431
    • (2005) J. Paediatr. Child Health , vol.41 , pp. 428-431
    • Alex, N.1    Thompson, J.M.2    Becroft, D.M.3    Mitchell, E.A.4
  • 38
    • 0033862615 scopus 로고    scopus 로고
    • Gastric aspiration and sleeping position in infancy and early childhood
    • Byard R.W., and Beal S.M. Gastric aspiration and sleeping position in infancy and early childhood. J. Paediatr. Child Health 36 (2000) 403-405
    • (2000) J. Paediatr. Child Health , vol.36 , pp. 403-405
    • Byard, R.W.1    Beal, S.M.2
  • 40
    • 19244378654 scopus 로고
    • Cardiovascular and respiratory vagal mechanoreceptors in the cat
    • Mei N. Cardiovascular and respiratory vagal mechanoreceptors in the cat. Exp. Brain Res. 11 (1970) 480-501
    • (1970) Exp. Brain Res. , vol.11 , pp. 480-501
    • Mei, N.1
  • 41
    • 0031882116 scopus 로고    scopus 로고
    • Vagal afferent projections to lobile VIIa of the rabbit cerebellar vermis related to cardiovascular control
    • Kondo M., Sears T.A., and Sadakane K. Vagal afferent projections to lobile VIIa of the rabbit cerebellar vermis related to cardiovascular control. Neurosci. Res. 30 (1998) 111-117
    • (1998) Neurosci. Res. , vol.30 , pp. 111-117
    • Kondo, M.1    Sears, T.A.2    Sadakane, K.3
  • 42
    • 0038165805 scopus 로고    scopus 로고
    • The effect of transcranial magnetic stimulation over the cerebellum on the synkinesis of coordinated eye and head movements
    • Nagel M., and Zangemeister W.H. The effect of transcranial magnetic stimulation over the cerebellum on the synkinesis of coordinated eye and head movements. J. Neurol. Sci. 15 (2003) 35-45
    • (2003) J. Neurol. Sci. , vol.15 , pp. 35-45
    • Nagel, M.1    Zangemeister, W.H.2
  • 43
    • 0028040040 scopus 로고
    • A neurogenic basis for acute altitude illness
    • Krasney J.A. A neurogenic basis for acute altitude illness. Med. Sci. Sports Exerc. 26 (1994) 195-208
    • (1994) Med. Sci. Sports Exerc. , vol.26 , pp. 195-208
    • Krasney, J.A.1
  • 44
    • 0036736570 scopus 로고    scopus 로고
    • Cardiac diastolic function and hypercapnic ventilatory responses in central sleep apnoea
    • Solin P., Jackson D.M., roebuck T., et al. Cardiac diastolic function and hypercapnic ventilatory responses in central sleep apnoea. Eur. Respir. J. 20 (2002) 717-723
    • (2002) Eur. Respir. J. , vol.20 , pp. 717-723
    • Solin, P.1    Jackson, D.M.2    roebuck, T.3
  • 45
    • 33750546285 scopus 로고    scopus 로고
    • Hypoxia-induced astrocytic reaction and increased vascular permeability in the rat cerebellum
    • Kaur C., Sivakumar V., Zhang Y., and Ling E.A. Hypoxia-induced astrocytic reaction and increased vascular permeability in the rat cerebellum. Glia 54 (2006) 826-839
    • (2006) Glia , vol.54 , pp. 826-839
    • Kaur, C.1    Sivakumar, V.2    Zhang, Y.3    Ling, E.A.4
  • 46
    • 0019421986 scopus 로고
    • Joubert syndrome: clinical and polygraphic observations in a further case
    • Boltshauser E., Herdan M., Dumermuth G., and Isler W. Joubert syndrome: clinical and polygraphic observations in a further case. Neuropediatrics 12 (1981) 181-191
    • (1981) Neuropediatrics , vol.12 , pp. 181-191
    • Boltshauser, E.1    Herdan, M.2    Dumermuth, G.3    Isler, W.4
  • 47
    • 0021685295 scopus 로고
    • The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis
    • Campbell S., Tsannatos C., and Pearce J.M. The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis. Prenat. Diagn. 4 (1984) 391-395
    • (1984) Prenat. Diagn. , vol.4 , pp. 391-395
    • Campbell, S.1    Tsannatos, C.2    Pearce, J.M.3
  • 48
    • 0033661463 scopus 로고    scopus 로고
    • Joubert syndrome: an affected female with bilateral colobomata
    • Dahlstrom J.E., Cookman J., and Jain S. Joubert syndrome: an affected female with bilateral colobomata. Pathology 32 (2000) 283-285
    • (2000) Pathology , vol.32 , pp. 283-285
    • Dahlstrom, J.E.1    Cookman, J.2    Jain, S.3
  • 50
    • 0018079385 scopus 로고
    • Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome
    • Friede R.L., and Boltshauser E. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev. Med. Child Neurol. 20 (1978) 758-763
    • (1978) Dev. Med. Child Neurol. , vol.20 , pp. 758-763
    • Friede, R.L.1    Boltshauser, E.2
  • 51
    • 0017669797 scopus 로고
    • Dysplastic gangliocytoma (Lhermitte-Duclos disease) of the cerebellum. Case report
    • Leech R.W., Christoferson L.A., and Gilbertson R.L. Dysplastic gangliocytoma (Lhermitte-Duclos disease) of the cerebellum. Case report. J. Neurosurg. 47 (1977) 609-612
    • (1977) J. Neurosurg. , vol.47 , pp. 609-612
    • Leech, R.W.1    Christoferson, L.A.2    Gilbertson, R.L.3
  • 52
    • 27744450414 scopus 로고    scopus 로고
    • Mechanism of myocardial microvessel formation in cyanotic congenital heart disease
    • Hu J., Sun P., Ruan X., Chao A., Lin Y., and Li X.Y. Mechanism of myocardial microvessel formation in cyanotic congenital heart disease. Circ. J. 69 (2005) 1089-1093
    • (2005) Circ. J. , vol.69 , pp. 1089-1093
    • Hu, J.1    Sun, P.2    Ruan, X.3    Chao, A.4    Lin, Y.5    Li, X.Y.6
  • 53
    • 0038359201 scopus 로고    scopus 로고
    • Apnoea and brain swelling in non-accidental head injury
    • Lemp A.M., Stoodley N., and Cobley C. Apnoea and brain swelling in non-accidental head injury. Arch. Dis. Child 88 (2003) 472-476
    • (2003) Arch. Dis. Child , vol.88 , pp. 472-476
    • Lemp, A.M.1    Stoodley, N.2    Cobley, C.3
  • 54
    • 0021965923 scopus 로고
    • Causes of death from asthma in children
    • Nguyen M.T., Patterson K., and Sly R.M. Causes of death from asthma in children. Ann. Allergy 55 (1985) 448-453
    • (1985) Ann. Allergy , vol.55 , pp. 448-453
    • Nguyen, M.T.1    Patterson, K.2    Sly, R.M.3


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