Infantile CNS spongy degeneration‐14 cases

Gascon, Generoso G.; Özand, Pinar; Mahdi, Awad H.; Jamil, Abdulmoneim; Haider, A.; Brismar, J.; Al-Nasser, Mohammed N.

doi:10.1212/wnl.40.12.1876

Cited by 29 publications

(8 citation statements)

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“…The common symptoms of CD include head lag, macrocephaly, hypotonia, ataxia, inadequate visual tracking, poor sucking ability, and intellectual disabilities. 7,8 In many cases, developmental delays and macrocephaly become noticeable after 6 months of age. In spite of profound delays, CD patients can sometimes interact with others, smile, and reach for objects.…”

Section: Clinical Course Of CDmentioning

confidence: 99%

Canavan disease: Clinical features and recent advances in research

Hoshino

Kubota

2014

Pediatrics International

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Canavan disease (CD) is a genetic neurodegenerative leukodystrophy that results in the spongy degeneration of white matter in the brain. CD is characterized by mutations in the gene encoding aspartoacylase (ASPA), the substrate enzyme that hydrolyzes N-acetylaspartic acid (NAA) to acetate and aspartate. Elevated NAA and subsequent deficiency in acetate associated with this disease cause progressive neurological symptoms, such as macrocephaly, visuocognitive dysfunction, and psychomotor delay. The prevalence of CD is higher among Ashkenazi Jewish people, and several types of mutations have been reported in the gene coding ASPA. Highly elevated NAA is more specific to CD than other leukodystrophies, and an examination of urinary NAA concentration is useful for diagnosing CD. Many researchers are now examining the mechanisms responsible for white matter degeneration or dysmyelination in CD using mouse models, and several persuasive hypotheses have been suggested for the pathophysiology of CD. One is that NAA serves as a water pump; consequently, a disorder in NAA catabolism leads to astrocytic edema. Another hypothesis is that the hydrolyzation of NAA in oligodendrocytes is essential for myelin synthesis through the supply of acetate. Although there is currently no curative therapy for CD, dietary supplements are candidates that may retard the progression of the symptoms associated with CD. Furthermore, gene therapies using viral vectors have been investigated using rat models. These therapies have been found to be tolerable with no severe long-term adverse effects, reduce the elevated NAA in the brain, and may be applied to humans in the future.

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Section: Clinical Course Of CDmentioning

confidence: 99%

Canavan disease: Clinical features and recent advances in research

Hoshino

Kubota

2014

Pediatrics International

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“…8 Another explanation for the white matter changes may be diffuse small vessel ischemia. 8 Other diseases causing widespread involvement of the cerebral white matter in infancy include metachromatic leukodystrophy, 9 Krabbe's disease, 10 adrenoleukodystrophy, 11 Zellweger syndrome, 12 Alexander disease, 13 Canavan disease, 14 Pelizaeus-Merzbacher disease, 15 Cockayne disease, 16 Laber's hereditary optic neuropathy, 17 and Aicardi-Goutieres syndrome. 18 All these causes were excluded in our patient based on clinical or biochemical findings.…”

Section: Discussionmentioning

confidence: 99%

Diffuse leukoencephalopathy: Unusual sonographic finding in an infant with mitochondrial disease

Hung

Wang

2007

J of Clinical Ultrasound

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Several mitochondrial diseases are known to occasionally involve the cerebral white matter, but in these cases the major findings are involved in the basal ganglia and brainstem. We report a case of diffuse white matter involvement in an infant with mitochondrial disease that was diagnosed via mitochondrial DNA analysis. Mitochondrial disease should be considered in the diagnosis of diffuse leukoencephalopathy in infancy.

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“…No mention is made of the use of nasal or endotracheal continuous positive airway pressure (CPAP) as a method of reducing work of breathing and hypercapnia. 6 Theophylline is discarded as a therapy, presumably based on its role as a bronchodilator. There is no mention of its value in those infants with apnoea (particularly ex-premature infants) or those with hypercapnia.'…”

Section: Consensus View On Management Of Acute Bronchlolltlsmentioning

confidence: 99%