Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study.
Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochemical investigations showed a combination of extensive neuronal degeneration and cerebral dysmyelination. Pathogenetic hypotheses and the relationship between neuropsychiatric disease and Hartnup syndrome are discussed. Additionally, a fast type bisalbuminaemia present in the girl and her mother is described.
Schmidtke
K
K
Institut für Neuropathologie, Ludwig-Maximilians-Universität München, Federal Republic of Germany.
Endres
W
W
Roscher
A
A
Ibel
H
H
Herschkowitz
N
N
Bachmann
C
C
Plöchl
E
E
Hadorn
H B
HB
D000596:Amino Acids / Q000378:metabolism / Q000652:urine; D001796:Blood Protein Disorders / Q000150:complications / Q000235:genetics; D001921:Brain / Q000473:pathology*; D001923:Brain Chemistry; D002675:Child, Preschool; D005260:Female; D006250:Hartnup Disease / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D012709:Serum Albumin / Q000032:analysis / Q000235:genetics; D014364:Tryptophan / Q000097:blood
D000596:Amino Acids; D012709:Serum Albumin; D014364:Tryptophan