Paroxysmal crying and motor regression for more than two months in an infant

WEN Yong-Xin; WANG Jia-Ping; CHEN Yan; BAO Xin-Hua

doi:10.7499/j.issn.1008-8830.2019.04.018

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Chinese Journal of Contemporary Pediatrics ›› 2019, Vol. 21 ›› Issue (4) : 399-404. DOI: 10.7499/j.issn.1008-8830.2019.04.018

CASE ANALYSIS

Paroxysmal crying and motor regression for more than two months in an infant

WEN Yong-Xin, WANG Jia-Ping, CHEN Yan, BAO Xin-Hua

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Abstract

The patient was a male who was found to be abnormal at the age of 4.5 months. He presented with irritability, motor regression and opisthotonus. Brain MRI revealed bilateral abnormality in the lentiform nucleus, thalamus, deutocerebrum and cerebellar hemispheres. Novel compound heterozygous mutations of SLC19A3 gene, c.950G > A(p.G317E) and c.962C > T(p.A321V), were found in the patient. Further study showed that c.950G > A was inherited from his father and c.962C > T came from his mother. Using bioinformatics software analysis, both of the mutations were found to be harmful. His symptoms were improved remarkably after biotin, thiamine and "cocktail" therapy. One month later a brain MRI revealed that the lesions in basal ganglia and cerebellar hemispheres were improved. The patient was definitely diagnosed with biotin-thiamine responsive basal ganglia disease (BTBGD). BTBGD is a treatable autosomal recessive disease and early administration of biotin and thiamine may lead to clinical improvement.

Key words

Biotin-thiamine responsive basal ganglia disease / SLC19A3 gene / Thiamine transporter / Infant

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WEN Yong-Xin, WANG Jia-Ping, CHEN Yan, BAO Xin-Hua. Paroxysmal crying and motor regression for more than two months in an infant[J]. Chinese Journal of Contemporary Pediatrics. 2019, 21(4): 399-404 https://doi.org/10.7499/j.issn.1008-8830.2019.04.018

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