A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome

European Journal of Pediatrics

Volumn 172, Issue 4, 2013, Pages 557-561

  Tzoufi, Meropi ^a   Makis, Alexandros ^a   Chaliasos, Nikolaos ^a   Nakou, Iliada ^a   Siomou, Ekaterini ^a   Tsatsoulis, Agathoklis ^a   Zikou, Anastasia ^a   Argyropoulou, Maria ^a   Bonnefont, Jean Paul ^b,c   Siamopoulou, Antigone ^a  

^a UNIVERSITY OF IOANNINA   (Greece)

^b INSERM   (France)

^c Hospitalier Necker Enfants Malades   (France)

Author keywords

Addison's disease; Fanconi syndrome; Kearns Sayre syndrome; Primary hypoparathyroidism

Indexed keywords

ABDOMINAL PAIN; ADDISON DISEASE; ANOREXIA; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; BOY; CASE REPORT; CAUSE OF DEATH; CEREBELLAR PEDUNCLE; CHILD; CHILDHOOD DISEASE; CHILDHOOD MORTALITY; DETERIORATION; FANCONI RENOTUBULAR SYNDROME; HEARING TEST; HUMAN; HYPOPARATHYROIDISM; KEARNS SAYRE SYNDROME; LIMB WEAKNESS; MALE; MITOCHONDRIAL RESPIRATION; PERCEPTION DEAFNESS; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RECURRENT DISEASE; SUBSTITUTION THERAPY; SWEATING; TENDON REFLEX; WITHDRAWAL SYNDROME;

ADDISON DISEASE; CHILD; DIAGNOSIS, DIFFERENTIAL; FANCONI SYNDROME; FATAL OUTCOME; HUMANS; HYPOPARATHYROIDISM; KEARNS-SAYRE SYNDROME; MALE; MUSCULAR DISEASES;

EID: 84876668338     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1798-1     Document Type: Article

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