Publications by authors named "A Bloch-Mimouni"
Article Synopsis
- - The study focuses on a rare genetic disorder caused by a specific mutation in the MED17 gene, affecting patients of Caucasus-Jewish descent, characterized by postnatal microcephaly, seizures, and brain atrophy.
- - Researchers reviewed medical records of 15 patients with this mutation and found that all had significant developmental delays, spastic quadriplegia, epilepsy, and required enteral feeding; most died before reaching puberty.
- - The findings suggest that this MED17 mutation leads to a consistent clinical presentation and specific MRI features, and it should be considered in patients of Caucasus-Jewish ancestry who show similar symptoms.
Eleven infants who were fed a thiamine-deficient formula for a mean of 3 months were evaluated for immediate and long-term auditory abnormalities. At presentation, 8 infants had auditory neuropathy spectrum disorder (ANSD), which resolved with supplementary thiamine in 5 children, was permanent in 2 children, and deteriorated in 1 patient who died at the age of 7 years. An additional patient had an auditory pattern corresponding to that of auditory neuropathy of brain stem origin.
View Article and Find Full Text PDFObjective: To report the follow-up findings of 7 children with severe epilepsy as a result of thiamine deficiency in infancy caused by a defective soy-based formula.
Methods: The medical records of 7 children aged 5-6 years with thiamine deficiency in infancy who developed epilepsy were reviewed and their clinical data, EEG tracings, and neuroimaging results were recorded. The clinical course and present outcome of these children, now 5 years after exposure to thiamine deficiency, are described.