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Summary
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
617193
OMIM = Online Medalian Inheritance of Men
17q25.3
rare
autosomal recessive
caused by mutation in the tubulin-specific chaperone D gene
symptoms
cerebral atrophy
dystonia
early death
encephalopathy
feeding difficulties, poor feeding
growth retardation
hypotonia
microcephaly
muscle weakness
onset, infancy
onset, neonatal
optic atrophy
psychomotor retardation
respiratory insufficiency
seizures
laboratory finding
no specific laboratory findings
Literature
Cailliez Met al.Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisisJ Inherit Metab Dis2967632006
Demirkaya Eet al.A patient with hyper-IgD syndrome responding to anti-TNF treatmentClin Rheumatol002006
Nevyjel Met al.Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiencyPediatrics1192e523-5272007