Infant with irritability, feeding problems, and progressive developmental abnormalities presenting repeatedly to a pediatric emergency department

Chabali, Raul; Matre, William M.; Greene, Mary K.

doi:10.1097/00006565-199704000-00011

Cited by 3 publications

(2 citation statements)

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“…At the symptom progression stage, infants often present with optic atrophy, aggravated epileptic seizures, and the rapid progression of psychomotor degeneration. At the end burnt-out stage, infants completely lose autonomous movement, require nasal feeding, and eventually die of infection and respiratory failure ( Chabali et al, 1997 ). The late infantile type is characterized by progressive deterioration of motor function, spastic paraplegia, cerebellar ataxia, hemiplegia ( Fiumara et al, 2011 ).…”

Section: Clinical Featuresmentioning

confidence: 99%

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy

et al. 2022

Front. Neurosci.

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Globoid cell leukodystrophy (GLD), or Krabbe disease (KD) is a rare neurodegenerative disease, and adult-onset GLD is more even neglected by clinicians. This review provides detailed discussions of the serum enzymes, genes, clinical manifestations, neuroimaging features, and therapies of GLD, with particular emphasis on the characteristics of adult-onset GLD, in an attempt to provide clinicians with in-depth insights into this disease.

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Section: Clinical Featuresmentioning

confidence: 99%

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy

et al. 2022

Front. Neurosci.

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“…Patients are unable to feed orally and typically require tube feeds 11 . End-stage morbidities include infection, respiratory failure, and feeding difficulties leading to emaciation 1,[16][17][18] .…”

Section: Presenting Symptomsmentioning

confidence: 99%

Phenotypic Variability of Krabbe Disease Across the Lifespan

Liao

Gelinas

Sirrs

2014

Can. J. Neurol. Sci.

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Krabbe disease (galactocerebrosidase deficiency) is an inherited leukodystrophy that results in severe neurological defects due to altered myelination. Classically, disease onset is within the first year of life. Juvenile and adult-onset cases may have less classic presentations, making diagnosis difficult and often delayed. Here, we review the literature to demonstrate the hetereogeneity of presenting symptoms across all age groups. We also discuss diagnostic approach, emphasizing variation in biochemical, functional, and genetic results among Krabbe phenotypes. Better understanding of the various Krabbe disease phenotypes is critical to facilitate timely diagnosis and appropriate treatment of this clinically heterogeneous disorder.

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Irritability and Intractable Crying

Schetzina¹

2007

Comprehensive Pediatric Hospital Medicine

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Infant with irritability, feeding problems, and progressive developmental abnormalities presenting repeatedly to a pediatric emergency department

Cited by 3 publications

References 0 publications

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy

Phenotypic Variability of Krabbe Disease Across the Lifespan

Irritability and Intractable Crying

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