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Congenital non‐progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria
Author(s) -
Cheminal R.,
Echenne B.,
Bellet H.,
Duran M.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799345
Subject(s) - hypertonia , medicine , pediatrics , encephalopathy , coma (optics) , metabolic disorder , hypotonia , inborn error of metabolism , endocrinology , anesthesia , physics , optics
Summary Six of nine children born from first‐cousin parents presented with the same clinical picture: non‐progressive congenital encephalopathy with marked hypertonia resembling the stiff‐baby syndrome, delayed milestones, mental deficiency and congenital deafness. Rare, usually reversible, episodes of sudden worsening of the neurological status, with progressive loss of consciousness and increase of hypertonia, occurred spontaneously or during febrile illnesses. During these periods, and sometimes on other occasions, transitory renal dysfunction was observed (nephrotic syndrome and/or tubular abnormalities). Death occurred before age 2 years in 4 patients; 2 are still alive (10 and 13 years old). Electrophysiological, biological and enzymatic investigations remained negative, particularly those concerning mitochondrial and peroxisomal metabolism. The only biochemical anomaly was a massive hyperkynureninuria, seen only during the periods of coma (up to 213 µmol/mmol creatinine; normal < 10) and after an intravenous protein loading test. This suggests an anomaly of tryptophan metabolism which has not been reported up to now.