BACKGROUND: Hereditary multiple intestinal atresia (HMIA) is an unusual form of intestinal atresia with a presumed autosomal recessive mode of inheritance. The aim of this study was to review the authors' experience with this disease, 30 years after its first description. METHODS: All cases of HMIA treated at the authors' institution were reviewed with a particular focus on presence of close consanguinity in the families, prenatal diagnosis, radiologic and surgical findings, pathology report, and outcome. RESULTS: Sixteen cases were identified. Two patients were siblings (1 newborn and 1 aborted foetus) and close consanguinity was proven in 1 other case. Bowel obstruction was suspected on prenatal ultrasound scan in 6 patients, but HMIA could not be diagnosed specifically. Radiologic, surgical, and pathologic findings were compatible with the standard description of this disease in the literature. All the patients died. Mean survival time was 50 days. CONCLUSIONS: Thirty years after its first description, HMIA remains a disease without reliable prenatal diagnosis nor effective surgical therapy. An autosomal recessive mode of inheritance is suspected. Until accurate in utero diagnosis becomes available, children with HMIA should be oriented toward palliative care.
BACKGROUND:Hereditary multiple intestinal atresia (HMIA) is an unusual form of intestinal atresia with a presumed autosomal recessive mode of inheritance. The aim of this study was to review the authors' experience with this disease, 30 years after its first description. METHODS: All cases of HMIA treated at the authors' institution were reviewed with a particular focus on presence of close consanguinity in the families, prenatal diagnosis, radiologic and surgical findings, pathology report, and outcome. RESULTS: Sixteen cases were identified. Two patients were siblings (1 newborn and 1 aborted foetus) and close consanguinity was proven in 1 other case. Bowel obstruction was suspected on prenatal ultrasound scan in 6 patients, but HMIA could not be diagnosed specifically. Radiologic, surgical, and pathologic findings were compatible with the standard description of this disease in the literature. All the patients died. Mean survival time was 50 days. CONCLUSIONS: Thirty years after its first description, HMIA remains a disease without reliable prenatal diagnosis nor effective surgical therapy. An autosomal recessive mode of inheritance is suspected. Until accurate in utero diagnosis becomes available, children with HMIA should be oriented toward palliative care.
Authors: Rui Chen; Silvia Giliani; Gaetana Lanzi; George I Mias; Silvia Lonardi; Kerry Dobbs; John Manis; Hogune Im; Jennifer E Gallagher; Douglas H Phanstiel; Ghia Euskirchen; Philippe Lacroute; Keith Bettinger; Daniele Moratto; Katja Weinacht; Davide Montin; Eleonora Gallo; Giovanna Mangili; Fulvio Porta; Lucia D Notarangelo; Stefania Pedretti; Waleed Al-Herz; Wasmi Alfahdli; Anne Marie Comeau; Russell S Traister; Sung-Yun Pai; Graziella Carella; Fabio Facchetti; Kari C Nadeau; Michael Snyder; Luigi D Notarangelo Journal: J Allergy Clin Immunol Date: 2013-07-04 Impact factor: 14.290
Authors: Mark E Samuels; Jacek Majewski; Najmeh Alirezaie; Isabel Fernandez; Ferran Casals; Natalie Patey; Hélène Decaluwe; Isabelle Gosselin; Elie Haddad; Alan Hodgkinson; Youssef Idaghdour; Valerie Marchand; Jacques L Michaud; Marc-André Rodrigue; Sylvie Desjardins; Stéphane Dubois; Francoise Le Deist; Philip Awadalla; Vincent Raymond; Bruno Maranda Journal: J Med Genet Date: 2013-02-19 Impact factor: 6.318