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Pagine elettroniche

Disordini dello "spettro Zellweger": rara causa di convulsioni e ipotonia nel neonato

"Zellweger spectrum" disorders; rare cause of seizures and hypotonia in the newborn

Gabriela Stangoni, Tiziana Becchetti, Giulia Maria Campus, Ambra Fantauzzi, Raffaella Scattoni, Aurelija Zeringyte

Unitŕ di Patologia e Terapia Intensiva Neonatale, Ospedale Santa Maria della Misericordia, Perugia

Novembre 2016 - pagg. 602 -604

Abstract
The paper describes a case of a newborn suffering from severe hypotonia and drug-resistant seizures, who was diagnosed with a “Zellweger spectrum” disease by means of biochemical and enzymatic tests. The “Zellweger spectrum” disorders are a group of diseases including Zellweger syndrome, Neonatal Adrenoleukodystrophy and Refsum disease which are considered as a “clinical and biochemical continuum”, characterized by the loss of peroxisomal functions, caused by molecular defects in genes coding for peroxins, proteins required for peroxisome biogenesis.
Parole chiave
Hypotonia Seizures VLCFA Zellweger spectrum
Suggerite dall'AI
ipotonia
Classificazione MeSH
Nervous System Diseases Central Nervous System Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Hereditary Central Nervous System Demyelinating Diseases
Lipids Fatty Acids (4)
Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Neuromuscular Manifestations Muscle Hypotonia (51)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolism, Inborn Errors Peroxisomal Disorders (2)
Cells Cellular Structures Intracellular Space Cytoplasm Cytoplasmic Structures Organelles
Nervous System Diseases Central Nervous System Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Refsum Disease
Pathological Conditions, Signs and Symptoms Signs and Symptoms Neurologic Manifestations Seizures (76)
Nervous System Diseases Central Nervous System Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Zellweger Syndrome (2)
Leggi anche
EL Caso contributivo
La sindrome di Zellweger: un lavoro di squadra
Acquaviva I, Cesaroni E, Siliquini S, Sessa F, Mar · 2021
Refsum Disease/Peroxisomal Disorders, Peroxisomal Disorders, Zellweger Syndrome, Fatty Acids
RI Se la conosci la riconosci
La sindrome di Sotos
Scupilliti S, Selicorni A. · 2024
Zellweger Syndrome/Kidney Diseases, Muscle Hypotonia
EL Caso contributivo
Disordini dello “spettro Zellweger”: rara causa di convulsioni e ipotonia nel neonato
G. Stangoni, T. Becchetti, G.M. Campus, A. Fantauz · 2016
Fatty Acids, Muscle Hypotonia
RI Pagine elettroniche
Ipotonia e stipsi... Due segni per una diagnosi
Basilio P, De Martino L. · 2023
Muscle Hypotonia
RI Se la conosci la riconosci
La sindrome di Pallister-Killian
L. Bettini, S. Tajč, A. Selicorni · 2017
Zellweger Syndrome/Abnormalities, Multiple, Adrenoleukodystrophy/Intellectual Disability, Muscle Hypotonia
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