Teaching NeuroImages: An Imaging Clue in a Boy With Developmental Delay

6 year old boy of non-consanguineous parents presented with global developmental delay since infancy with history of two episodes of seizures in early childhood. Examination, showed hyperactivity subnormal cognition, tight heel cords, weakness of limbs along with hypotonia, and sluggish tendon refle...

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Veröffentlicht in:	Neurology 2021-04, Vol.96 (14), p.e1925-e1926
Hauptverfasser:	Jyotsna, A.S., Vinayan, K.P., Roy, Arun Grace
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain - diagnostic imaging Brain - pathology Child Developmental Disabilities - diagnostic imaging Developmental Disabilities - genetics Developmental Disabilities - pathology Humans Magnetic Resonance Imaging Male Muscular Dystrophies - diagnostic imaging Muscular Dystrophies - genetics Muscular Dystrophies - pathology N-Acetylglucosaminyltransferases - genetics
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Beschreibung
Zusammenfassung:	6 year old boy of non-consanguineous parents presented with global developmental delay since infancy with history of two episodes of seizures in early childhood. Examination, showed hyperactivity subnormal cognition, tight heel cords, weakness of limbs along with hypotonia, and sluggish tendon reflexes. Serum CK was 2138 IU/l.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/WNL.0000000000011286