scholarly journals Russel — Silver syndrome a 7-month-old child: case report

2021 ◽  
Vol 4 (1) ◽  
pp. 103-105
Author(s):  
N.R. Khafizova ◽  
◽  
D.R. Merzlyakova ◽  
Yu.F. Safina ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Small Body ◽  
Clinical Signs ◽  
Hereditary Disease ◽  
The Body ◽  
Genetic Condition ◽  
Intrauterine Growth ◽  
Silver Syndrome

Russel – Silver syndrome (RSS) is a hereditary disease manifesting with intrauterine growth retardation, dwarfism, and other stigmas of embryopathy. We describe this rare genetic condition in a 7-month-old baby. The changes in physical condition and neurological status, clinical signs, laboratory tests, and management strategy are addressed. A genetic condition was suggested through an arrested development and stigmas of embryopathy only at the age of 7 months. At the age of 5 months, hydrocephaly was suspected due to asymmetrical proportions of the body (the relatively large size of head compared to a small body). However, neurosonography ruled out this diagnosis. Genetic testing for microsatellite loci on chromosome 7, which identified abnormal methylation of H19 gene verified the final diagnosis. KEYWORDS: Russel – Silver syndrome, child, intrauterine growth retardation, pseudohydrocephalus, dwarfism, genetic counseling. FOR CITATION: Khafizova N.R., Merzlyakova D.R., Safina Yu.F. Russel – Silver syndrome a 7-month-old child: case report. Russian Journal of Woman and Child Health. 2021;4(1):103–105. DOI: 10.32364/2618-8430-2021-4-1-103-105.

scholarly journals CLINICAL CASE OF NEONATAL THYROTOXICOSIS

2018 ◽  
Vol 63 (5) ◽  
pp. 183-187
Author(s):  
M. R. Shaydullina ◽  
A. R. Shakirova ◽  
A. A. Zinatullina
Keyword(s):  
High Risk ◽  
Children And Adolescents ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Clinical Case ◽  
Heart Rhythm ◽  
The Body ◽  
Graves Disease ◽  
Intrauterine Growth ◽  
Neonatal Thyrotoxicosis

Neonatal thyrotoxicosis is 1% of all cases of thyrotoxicosis in children and adolescents and it is mostly determined by the mother’s Graves’ disease. The most dangerous manifestations of neonatal thyrotoxicosis are intrauterine growth retardation, tachycardia, and heart rhythm disturbances. Timely diagnostics and beginning of treatment are of great importance due to the high risk of fatal cardiac disruption in the acute phase of the disease and its serious consequences for the body. The article presents a clinical case of a patient with neonatal thyrotoxicosis diagnosed only at the age of 1 month, despite the mother’s burdened anamnesis; it contains a plan for diagnostic search and tactics of child management.

scholarly journals Features of adaptation of newborns with intrauterine growth retardation

2003 ◽  
Vol 52 (4) ◽  
pp. 23-27
Author(s):  
I. I. Evsyukova ◽  
B. A. Fomenko ◽  
А. А. Andreeva ◽  
O. V. Kovalchuk-Kovalevskaya ◽  
D. S. Dodkhoev ◽  
...  
Keyword(s):  
Body Weight ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Intrauterine Infection ◽  
Multiple Organ ◽  
The Body ◽  
Psychomotor Development ◽  
Intrauterine Growth ◽  
Symmetrical Form ◽  
Reflex Reactions

The morbidity, adaptation characteristics, production of melatonin and creatine kinase in newborns with intrauterine growth retardation were studied. It was found that with a symmetrical form of IUGR in newborns, there is not only a lag in growth, body weight, and the formation of postural and reflex reactions from the given gestational age, but also pronounced multiple organ failure, which significantly complicates their postnatal adaptation and, probably, determines a high frequency somatic pathology and disorders of psychomotor development in the following months of life. Children who have a lag in growth and body weight combined with a delay in the formation of postural and reflex reactions as a result of intrauterine infection and placental insufficiency of infectious genesis need therapy aimed at restoring and compensating for the impaired functions of the central nervous system and other functional systems of the body.

scholarly journals Pregnancy with Myasthenia Gravis

2020 ◽  
Vol 4 (1) ◽  
pp. 119
Author(s):  
Ninuk Dwi ariningtyas ◽  
Laily Irfana
Keyword(s):  
Case Report ◽  
Autoimmune Disease ◽  
Caesarean Section ◽  
Myasthenia Gravis ◽  
Nicotinic Acetylcholine Receptor ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
The Other ◽  
Nicotinic Acetylcholine ◽  
Intrauterine Growth

ABSTRACTMyasthenia Gravis (MG) is a serious autoimmune disease, but now can be treated. Symptoms include weakness and fatigue in voluntary muscles caused by an autoantibody reaction to nicotinic acetylcholine receptor (AChR) at the post synapse of the neuromuscular junction. Pregnancy can affect autoimmune diseases so that pregnancy can aggravate MG disease. On the other hand it is also reported that pregnancy does not affect and can even improve MG disease. In this article, We report a 27-year-old woman who was diagnosed with myasthenia gravis that having a pregnancy. Initially she had no problems with pregnancy. Patients underwent pregnancy by taking the drug Mestinon four times daily and roborant. But entering the 33rd-34th week, the examination results showed that the pregnancy experienced oligohydramnios and Intrauterine Growth Retardation (IUGR), it was probably caused by malnutrition. Then we decided to end the patient's pregnancy with a Caesarean section. The operation went well, born to a baby boy / 2450grams / Apgar Score 5-7. Observation for one week the mother's condition continued to improve. Diplopia and weaknesses also improve. Likewise the baby showed a healthy condition. The patient was discharged while still taking MG drugs that had been previously consumed. This case report showed that pregnancy worsened MG disease, but MG did not affect pregnancy.Keywords : Pregnancy, Myasthenia Gravis

Imbalance in the system L-arginin-NO in pathogenesis of obstetric complications and intrauterine growth retardation (Literature review)

2016 ◽  
pp. 43-47
Author(s):  
O.V. Basystyi ◽  
Keyword(s):  
Nitric Oxide ◽  
Literature Review ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Obstetric Complications ◽  
Pathogenetic Role ◽  
Intrauterine Growth ◽  
System L ◽  
Nitric Oxide Deficiency

The data of domestic and foreign literature on etiology, pathogenesis and intrauterine growth retardation diagnosis are presented in the paper. It highlights pathogenetic role of nitric oxide deficiency in case of obstetric complications and intrauterine growth retardation. Key words: intrauterine growth retardation (IUGR), system L-arginin–NO, obstetric complications.

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