Premium
West syndrome and mitochondrial diabetes: relationship or coincidence?
Author(s) -
Bouhanick B.,
Reynier P.,
Salle A.,
Ilhouz F.,
Coutant R.,
Pouplard F.
Publication year - 2002
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1046/j.1365-2265.2002.01569_2.x
Subject(s) - hypsarrhythmia , diabetes mellitus , medicine , pediatrics , endocrinology , electroencephalography , psychiatry
Summary West syndrome occurs in infancy and in early childhood. It is characterized by intractable seizures occurring almost daily, severe psychomotor retardation, poor prognosis and EEG abnormalities, known as hypsarrhythmia. We report here the case of a 28‐year‐old patient, who was diagnosed with West syndrome when he was 8 months old and with diabetes mellitus when he was 25 years old. Sequencing analyses and restriction analyses were suggestive of mitochondrial diabetes. Four years after the diagnosis of diabetes, this patient's diabetes is still controlled by diet and biguanides.