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Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?
Cazzaniga, Laura; Parma, Barbara; Licini, Lisa; Dalla Rosa, Davide; Cheli, Maurizio; Selicorni, Angelo.
Afiliação
  • Cazzaniga L; Department of Pediatrics, Mariani Foundation Center for Fragile Children, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como).
  • Parma B; Department of Pediatrics, Mariani Foundation Center for Fragile Children, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como).
  • Licini L; Department of Pathology, Papa Giovanni XXIII Hospital, Bergamo.
  • Dalla Rosa D; Department of Paediatric Surgery, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Cheli M; Department of Paediatric Surgery, Papa Giovanni XXIII Hospital, Bergamo, Italy.
  • Selicorni A; Department of Pediatrics, Mariani Foundation Center for Fragile Children, ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como).
Clin Dysmorphol ; 31(1): 18-22, 2022 Jan 01.
Article em En | MEDLINE | ID: mdl-34561316
ABSTRACT
We describe the case of a patient with a clinical and molecular diagnosis of Beckwith-Wiedemann Syndrome (BWS) and a clinical, radiologic and histologic diagnosis of colon isolated hypoganglionosis. BWS is a genetic multisystem disorder characterized by generalized and lateralized overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia and predisposition to embryonal tumors (Brioude et al., Nat Rev Endocrinol 1998; 14229-249). Hypoganglionosis of the colon is a condition that clinically resembles Hirschsprung's disease and it is part of a group of numerous and heterogeneous conditions that are defined 'Variants of Hirschsprung's disease' (Friedmacher and Puri, Pediatr Surg Int 2013; 29855-872). To the best of our knowledge, the association of BWS with Hirschsprung's disease has been observed only in one patient, an infant with hypoglycemia (Shah et al., BMJ Case Rep 2020; 13e235121). We suppose that dysganglionosis could be rare comorbidity of BWS. We suggest to put particular attention to patients affected by BWS who develop early severe constipation taking into account the possibility to study them at radiologic and histologic levels to show the possible evidence of Hirschsprung's disease variants.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Beckwith-Wiedemann / Macroglossia Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Newborn Idioma: En Revista: Clin Dysmorphol Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Beckwith-Wiedemann / Macroglossia Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Newborn Idioma: En Revista: Clin Dysmorphol Ano de publicação: 2022 Tipo de documento: Article