Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease.
Two siblings from a Hong Kong Chinese family are diagnosed to have heterozygous mutation in tyrosine hydroxylase gene-a novel mutation R169X and the common Dutch mutation R233H. Presented with developmental delay and dystonia before 6 months of age, both had hyperprolactinemia with persistent galactorrhea present in the elder brother since birth. Serum prolactin level is a good screening test for those suspected of underlying neurotransmitter diseases. To our knowledge, this is the first Chinese family diagnosed with such condition. Clinicians must be aware of this rare disease especially in those unexplained 'cerebral palsy' like children.
Yeung
Wai Lan
WL
Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China. wailanyeung@cuhk.edu.hk
Lam
Ching Wan
CW
Hui
Joannie
J
Tong
Sui Fan
SF
Wu
Shun Ping
SP
D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D004421:Dystonia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005687:Galactorrhea / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D006966:Hyperprolactinemia / Q000175:diagnosis / Q000235:genetics; D008297:Male; D017354:Point Mutation; D009435:Synaptic Transmission / Q000235:genetics; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics*
D014446:Tyrosine 3-Monooxygenase