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Floppy Infant Syndrome: the Importance for the Differential Diagnosis of Hereditary Metabolic Diseases, and Degenerative Diseases of the Nervous System

https://doi.org/10.15690/vsp.v14i5.1444

Abstract

The problem of clinical polymorphism rises sharply in the diagnosis of the conditions which are manifested by a floppy infant syndrome.
It hasn’t nosological independence, its main clinical markers are nonspecific, and the course and outcome are variable. Diffuse muscular hypotonia can be a symptom of the majority of somatic and neurological diseases of infants, for example, genetic metabolic diseases, and degenerative diseases of the nervous system. Topically it is possible to classify it by levels of lesions to hypotonia of the central and peripheral origin, as well as to identify a number of criteria for their differences. This article describes the clinical cases of children with a floppy infant syndrome illustrating hypotonia of the central and peripheral lesion levels. It is described the opportunities and difficulties of the differential diagnosis, given the family history, prenatal and perinatal factors, the time the clinical picture manifestation. Different treatment strategy and prognosis of the opportunities in conducting habilitation determine the importance of the establishment of the topical level of the lesion. Due to the clinical significance of the floppy infant syndrome we should attract the attention of pediatricians, neurologists and parents to the question of determination of this syndrome in a child in order to promptly begin searching the causes of the condition and the complex therapy.

About the Authors

T. M. Prygunova
Nizhny Novgorod Regional Children’s Clinical Hospital, Nizhny Novgorod, Russian Federation
Russian Federation


T. M. Radaeva
Nizhny Novgorod State Medical Academy, Nizhny Novgorod, Russian Federation
Russian Federation


E. Yu. Stepanova
Nizhny Novgorod State Medical Academy, Nizhny Novgorod, Russian Federation
Russian Federation


E. E. Beresneva
Nizhny Novgorod Regional Children’s Clinical Hospital, Nizhny Novgorod, Russian Federation
Russian Federation


I. A. Azovceva
Nizhny Novgorod Regional Children’s Clinical Hospital, Nizhny Novgorod, Russian Federation
Russian Federation


References

1. Мутовин Г. Р., Марченко Л. Ф., Жилина С. С., Воронцова С. С., Бегдай И. Н., Умаханова З. Р. Синдром «вялый ребенок». Ком пактдиск «Авторские лекции по педиатрии». Под общ. ред. В. Ф. Дёмина и С. О. Ключникова. Т. 1. Патология новорожденных и детей

2. раннего возраста. М.: РГМУ. 2005.

3. Феничел Джеральд М. Педиатрическая неврология. Основы клинической диагностики: пер. с англ. М.: Медицина. 2004. С. 224–225, 251–268.

4. Евтушенко С. К., Морозова Т. М., Шаймурзин М. Р. Сипозиум «Синд ром мышечной гипотонии у новорожденных и детей раннего возраста». Международный неврологический журнал. 2011; 4 (42): 124–140.

5. Бадалян О. Л., Журба Л. Т., Тимонина О. В. Детские церебральные параличи. Киев: Здоровья. 1988. С. 19–32.

6. Цыганкова П. Г., Михайлова С. В., Захарова Е. Ю., Пичкур Н. А., Ильина Е. С., Николаева Е. А., Руденская Г. Е., Дадали Е. Л., Колпакчи Л. М., Федонюк И. Д., Матющенко Г. Н. Синдром Ли, обусловленный мутациями в гене SURF1: клинические и молекулярно-генетические особенности. Журнал неврологии и психиатрии. 2010; 1: 25–32.

7. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J. Neurol. Neurosurg. Psychiatr. 1951; 14 (3): 216–221.

8. Темин П. А., Казанцева Л. З. Наследственные нарушения нервно пси хического развития детей. М.: Медицина. 2001. С. 80–116, 130–133.

9. Rahman S., Blok R., Dahl H. H., Danks D. M., Kirby D. M., Chow C. W., Christodoulou J., Thorburn D. R. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann. Neurol. 1996; 39 (3): 343–351.

10. Сухоруков В. С. Очерки митохондриальной патологии. М.: Медпрактика-М. 2011. С. 60–68, 165–176.

11. Сухоруков В. С., Харламов Д. А. Врожденные миопатии. М. 2010. С. 79–97.

12. Заболевания нервной системы у детей. Т. 2. Под ред. Ж. Айкарди и др. Пер. с англ. Под общ. ред. А. А. Скоромца. М.: Издательство Панфилова; БИНОМ. Лаборатория знаний. 2013. С. 829–831.


Review

For citations:


Prygunova T.M., Radaeva T.M., Stepanova E.Yu., Beresneva E.E., Azovceva I.A. Floppy Infant Syndrome: the Importance for the Differential Diagnosis of Hereditary Metabolic Diseases, and Degenerative Diseases of the Nervous System. Current Pediatrics. 2015;14(5):586-590. (In Russ.) https://doi.org/10.15690/vsp.v14i5.1444

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