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Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases.
Neuropediatrics. 2002 Aug; 33(4):180-5.N

Abstract

We describe 3 children (2 siblings aged 10 and 3 years, and 1 sporadic case aged 13 years) with cerebellar vermis defect associated with oligophrenia, congenital ataxia, and hepatic fibrocirrhosis. Differently from what is reported in COACH syndrome, coloboma and renal involvement were absent. Since in one patient hepatic involvement was subclinical and early therapy seemed to prevent disease progression, the presence of liver disease should be carefully investigated in any patient with ataxia and midline cerebellar defects.

Authors+Show Affiliations

Dipartimenti di Pediatria, Seconda Universita' di Napoli, Napoli, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12368986

Citation

Coppola, G, et al. "Cerebellar Vermis Defect, Oligophrenia, Congenital Ataxia, and Hepatic Fibrocirrhosis Without Coloboma and Renal Abnormalities: Report of Three Cases." Neuropediatrics, vol. 33, no. 4, 2002, pp. 180-5.
Coppola G, Vajro P, De Virgiliis S, et al. Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. Neuropediatrics. 2002;33(4):180-5.
Coppola, G., Vajro, P., De Virgiliis, S., Ciccimarra, E., Boccone, L., & Pascotto, A. (2002). Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. Neuropediatrics, 33(4), 180-5.
Coppola G, et al. Cerebellar Vermis Defect, Oligophrenia, Congenital Ataxia, and Hepatic Fibrocirrhosis Without Coloboma and Renal Abnormalities: Report of Three Cases. Neuropediatrics. 2002;33(4):180-5. PubMed PMID: 12368986.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. AU - Coppola,G, AU - Vajro,P, AU - De Virgiliis,S, AU - Ciccimarra,E, AU - Boccone,L, AU - Pascotto,A, PY - 2002/10/9/pubmed PY - 2002/11/26/medline PY - 2002/10/9/entrez SP - 180 EP - 5 JF - Neuropediatrics JO - Neuropediatrics VL - 33 IS - 4 N2 - We describe 3 children (2 siblings aged 10 and 3 years, and 1 sporadic case aged 13 years) with cerebellar vermis defect associated with oligophrenia, congenital ataxia, and hepatic fibrocirrhosis. Differently from what is reported in COACH syndrome, coloboma and renal involvement were absent. Since in one patient hepatic involvement was subclinical and early therapy seemed to prevent disease progression, the presence of liver disease should be carefully investigated in any patient with ataxia and midline cerebellar defects. SN - 0174-304X UR - https://www.unboundmedicine.com/medline/citation/12368986/Cerebellar_vermis_defect_oligophrenia_congenital_ataxia_and_hepatic_fibrocirrhosis_without_coloboma_and_renal_abnormalities:_report_of_three_cases_ L2 - https://www.thieme-connect.com/DOI/DOI?10.1055/s-2002-34492 DB - PRIME DP - Unbound Medicine ER -