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Summary
Disease
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
OMIM
617193
OMIM = Online Medalian Inheritance of Men
Gene locus
17q25.3
Summary
rare
autosomal recessive
mutation in the TBCD gene
symptoms
cerebral atrophy
dystonia
early death
encephalopathy
feeding difficulties, poor feeding
growth retardation, poor growth
hypotonia
microcephaly (<2 SD for age)
muscle weakness
onset, infancy
onset, neonatal
optic atrophy
psychomotor retardation
respiratory insufficiency
seizures
laboratory finding
Metabolite
min
max
Norm. min
Norm. max
unit
specimen
agegroup
no specific laboratory findings (P, S, U ,CSF)
Literature
Author
Co-Author
Title
society
book
volume
number
pages
Year
Cailliez M
et al.
Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis
J Inherit Metab Dis
29
6
763
2006
Demirkaya E
et al.
A patient with hyper-IgD syndrome responding to anti-TNF treatment
Clin Rheumatol
0
0
2006
Nevyjel M
et al.
Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency
Pediatrics
119
2
e523-527
2007