遺伝症候群と遺伝子治療のジャーナル
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概要

"Mais-Nadim-Nasser Triad", A Useful Marker for Leukodystrophies Diagnosis

Nasser Nadim

Background: Primary Hypotonia is a challenging diagnostic issue for pediatricians. Gray and white matter disorders are its main causes; the former, the neuronal storage diseases, have specific characteristics which make them relatively easy to diagnose. The latter, subject of this article, also called leukoencephalopathy, or leukodystrophy, has a wide spectrum of clinical features common with other brain diseases, but does not have any pathognomonic clinical sign, which makes it difficult to diagnose. Our mission is to label the most frequent combination of major characteristics of leukodystophies arising from injury to two or more brain associated organs, and have, at the same time, a high degree of specificity to these disorders, sufficient to put the diagnosis within our reach. Methods: To achieve this, we reviewed the available literature about the majority of white matter disorders and examined the correlation between their main clinical features, to those of a group of leukodystrophic infants, of whom we report three out of thirteen cases. Results: All thirteen infants, homozygous for the same mutation, showed three identical clinical and laboratory features which prevailed in most of the various types of leukodtrophy: namely; A- Marked truncal hypotonia, expressed by uncontrolled gravitational droppings of head and head lag, B- Uncontrolled eye movements; nystagmus, CAbnormal brainstem evoked response audiometry. Conclusions: The conjoined three major characteristics compose a novel triad that we named “Mais-Nadim- Nasser Triad”; an applicable marker in algorithms of the differential diagnosis of truncal hypotonia, nystagmus or sensory-neural deafness in childhood.