Organic aciduria. Treatable cause of floppy infant syndrome.
نویسندگان
چکیده
منابع مشابه
Floppy Infant Syndrome: Overview
Floppy infants exhibit poor control of movement, delayed motor skills, and hypotonic motor movement patterns. Weak infants always have hypotonia, but hypotonia may exist without weakness. Some indications of CNS abnormality are because of poor state of alertness, lack of response to visual and auditory stimuli, inability to manage co-ordinated functions like swallowing and sucking noted that th...
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Introduction: Infant botulism is a relatively uncommon but potentially life threatening cause of a septic appearing or lethargic infant. Case Report: A 6weekold male infant presented to the emergency department with a history of poor feeding and fever for several days. His parents reported that he had been “more sleepy than usual” and had a weak cry. He had not passed any stool for five days....
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Hypocalcemia is a known cause of reversible cardiomyopathy and DiGeorge syndrome is an important cause of hypocalcemia. A 17 days old 2.3 kg female child, first in birth order, born to a primigravida mother by full term LSCS started having tonic-clonic jerks on day 8 of life and was also noticed to have bluishness of lips and nails, when she was referred to us. Child had intermittent episodes o...
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OBJECTIVE The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS). A second aim is to stimulate the study of regression in DS and of catatonia. A subset of individuals with DS is noted to experience unexplained regression in behavior, mood, activities of daily living, motor activities, and intellectual functioning during adolescence or...
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Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1976
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.51.8.636