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Hypotonia in neonates is a relatively common symptom, and has a broad differential diagnosis. Despite advances in diagnostic techniques over the past few years, understanding where hypotonia in a neonate originates remains a challenge. Hypotonia can be a result of diseases of the central or peripheral nervous system; differentiation between a central or a peripheral origin is helpful as a first step in the diagnostic evaluation. This article describes a systematic approach to clinical evaluation of a neonate with hypotonia, resulting in an adequate selection of specific diagnostic tests to establish the diagnosis.
This article was published in the following journal.
Name: Nederlands tijdschrift voor geneeskunde
Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, main...
Few understand the experience of having an infant in the neonatal intensive care unit (NICU). This article provides a discussion about the importance of an annual reunion for former NICU infants, thei...
Neonatal jaundice affects nearly 60% of term and 80% of preterm neonates during the first week of life. Although early discharge of healthy term newborns is a common practice, neonatal hyperbilirubine...
Applying quality improvement methods has reduced necrotizing enterocolitis (NEC) in some neonatal intensive care units (NICUs) by 40% to 90%.
Any maternal history of blood loss, ABO or Rh incompatibility, and hydrops fetalis often leads to suspicion of neonatal anemia postnatally. When maternal history consists only of decreased fetal movem...
Hypotonia is a common manifestation in infants and children.It includes several clinical conditions that do not always lead to a favorable outcome .Thus, it is important to make early diag...
Prader-Willi syndrome (PWS) is a genetic disorder associated with growth hormone (GH) deficiency, central hypotonia and hyperphagia that leads to life-threatening obesity. Treatment with G...
1. Evaluate the relationship of RDW and severity and mortality in patients with neonatal sepsis . 2. Using RDW as a simple, inexpensive, applicable and rapid test to detect prognos...
Neonatal sepsis is an important cause of morbidity and mortality in the pediatric age group . It is one of the leading causes of death in the first 28 days of life both in the developed an...
To determine the effect of Score for Neonatal Acute Physiology II as a Predictor of Mortality and Organ Dysfunction in Neonates with Septicemia in the Neonatal Intensive Care Units at CHIL...
A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system; an enzyme system with four components: P-, T-, H-, and L-proteins. Deficiency of the P-protein is the most prevalent form. Neonatal and juvenile presentations have been reported. Neonatal onset is more common and may be fatal. Clinical features include SEIZURES; hypotonia; APNEA; and COMA. When the illness presents in childhood there tends to be an associated progressive DEMENTIA accompanied by extrapyramidal signs. (Menkes, Textbook of Child Neurology, 5th ed, p46; Jpn J Hum Genet 1997 Mar;42(1):13-22)
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...