Microcephaly in infantile Sandhoff's disease
نویسندگان
چکیده
منابع مشابه
Microcephaly in infantile Sandhoff's disease.
Maulik K, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220912 Description We evaluated a boy aged 16 months with developmental arrest at the age of 6 months followed by neuroregression and recurrent generalised seizures. Perinatal and family history was not contributory. He was first born to non-consanguineous parents by term, uncomplicated vaginal delivery and weighed 2.8 kg at birth. On exa...
متن کاملMutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness
OBJECTIVE To identify the cause of a so-far unreported phenotype of infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). METHODS We characterized a consanguineous family of Yazidian-Turkish descent with IMNEPD. The two affected children suffer from intellectual disability, postnatal microcephaly, growth retardation, progressive ataxia, distal muscle weakness, pe...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2017
ISSN: 1757-790X
DOI: 10.1136/bcr-2017-220912