title: Kocher-Debré-Sémélaigne syndrome diagnosed by autopsy associated with disseminated intravascular coagulation.
abstract: Kocher-Debré-Sémélaigne syndrome is a rare disease with little literature, which develops with myopathy in infancy associated with neuromuscular alterations, polymyositis with symmetrical proximal muscle weakness, pseudohypertrophy, muscular rigidity and spasms, exercise intolerance, myxoedema, short stature, and cretinism. Male patient aged 18 years old, 1.52 m in height, admitted in the General Hospital of Triângulo Mineiro Federal University on November 11, 2003, complaining of intense diffuse abdominal pain like severe cramps, without triggering factors, associated with asthenia and hyporexia. This seems to be one of the few reports of KDS syndrome diagnoses by autopsy, where alterations in the thyroid gland connected with hypotrophy and probable congenital hypothyroidism were described and resulted in complications such as disseminated intravascular coagulation and hemophagocytic syndrome with fast progression to death of an 18-year-old patient.
authors.affiliation: General Pathology Division,Triangulo Mineiro Federal University, Uberaba, Minas Gerais, Brazil.
authors.forename: Natália Dias B
authors.initials: ND
authors.lastname: Guimarães
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Espindula
authors.forename: Laura Penna
authors.initials: LP
authors.lastname: Rocha
authors.forename: Janaínna Grazielle Pacheco
authors.initials: JG
authors.lastname: Olegário
authors.forename: Débora Tavares Resende Silva
authors.initials: DT
authors.lastname: Abate
authors.forename: Renata Calciolari Rossi
authors.initials: RC
authors.lastname: e Silva
authors.forename: Camila Lourencini
authors.initials: CL
authors.lastname: Cavellani
authors.forename: Marlene Antônia
authors.initials: MA
authors.lastname: dos Reis
authors.forename: Vicente de Paula Antunes
authors.initials: Vde P
authors.lastname: Teixeira
authors.forename: Eumenia Costa
authors.initials: EC
authors.lastname: da Cunha Castro
authors.forename: Rosana Rosa Miranda
authors.initials: RR
authors.lastname: Corrêa
mesh_terms: D000293:Adolescent; D001344:Autopsy; D003409:Congenital Hypothyroidism / Q000150:complications* / Q000175:diagnosis / Q000473:pathology*; D004211:Disseminated Intravascular Coagulation / Q000150:complications*; D006801:Humans; D006984:Hypertrophy / Q000150:complications* / Q000175:diagnosis / Q000473:pathology*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis / Q000473:pathology*