Child Neurology: Zellweger syndrome

Lee, Paul R.; Raymond, Gerald V.

doi:10.1212/wnl.0b013e3182929f8e

Cited by 45 publications

(41 citation statements)

References 9 publications

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“…This is higher than its worldwide prevalence (9,14), although the confidence interval is large (1/9,500 -1/58,727). Similar high incidences have been reported in the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, Canada (1/12,191) (17), in the Okinawa Islands of Japan (1/30,000) (12), and among Karaites in Israel (1/25,000) (18). This may reflect community isolation or a founder effect (17), both of which reduce genetic diversity.…”

Section: Discussionsupporting

confidence: 66%

Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome

et al. 2017

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Objectives: To analyze the clinical and laboratory data of neonates diagnosed with Zellweger syndrome and to estimate the incidence of the syndrome. Methods: The databases of four institutions that admitted newborns diagnosed with Zellweger syndrome to intensive care units between January 2013 and December 2016 were examined. Results: A total of 105,887 live babies were born in the four centers during the study period. Seven were diagnosed with Zellweger syndrome; the incidence was thus 1/15,126. Birth weights were 2,200 -3,300 g. Six cases were born to consanguineous parents. Dysmorphic findings, respiratory failure, and hypotonia were evident in all patients. Hepatomegaly was apparent in four cases, congenital cardiac defects in four, characteristic cerebral magnetic resonance imaging findings in four, renal cysts in five, hepatic cysts in three, and splenomegaly in one. PEX1 mutations were identified in three patients, and one mutation was novel. Conclusions:The incidences of Zellweger syndrome and cardiac disease were higher than reported previously, being (to the best of our knowledge) among the highest reported worldwide. This is the first time that such incidences have been calculated in Turkey. The syndrome is more common in regions where consanguineous marriage rates are higher.

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Section: Discussionsupporting

confidence: 66%

Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome

et al. 2017

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“…Hastalık Down sendromu, Prader-Willi sendromu ve konjenital nöromüsküler hastalıklar (spinal müsküler atrofi, konjenital myotonik distrofi tip 1 gibi) ile birlikte hipotonik-dismorfik yenidoğan ve süt çocuklarının ayırıcı tanısına girmektedir [3].…”

Section: Discussionunclassified

Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

Yeşilbaş¹,

Kıhtır²,

Ersoy³

et al. 2015

Dicle Med J

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Very long chain fatty acids accumulate in many tissues and organs in the peroxisomal disorders due to defects in fatty acid metabolism. Although the disease may be manifested as severe symptoms causing early death due to hypotonia, poor feeding, respiratory problems, cerebral dysgenesis, liver and kidney dysfunctions, it may be presented as late onset with mild symptoms. We presented a 4 months-old male infant with peroxisomal disorder diagnosed by dysmorphic facial appearance, hypotonia since birth, feeding difficulties, respiratory distress, severe cerebral dysgenesis and increased very long chain fatty acids due to its rarity.Key words: Peroxisomal disorder, hypotonia, severe cerebral dysgenesis ÖZETPeroksizomal hastalıklarda yağ asidi metabolizmasındaki yetersizlik nedeniyle çok uzun zincirli yağ asitleri vücutta birçok doku ve organda birikmektedir. Yenidoğan döne-minde bulgu veren hipotoni, beslenme güçlüğü, solunum problemleri, beyin disgenezileri, karaciğer ve böbrek fonksiyon bozuklarına bağlı erken ölümle sonuçlanan ağır bulgularla kendini gösterebildiği gibi geç başlangıçlı, hafif bulgularla seyreden bir tablo ile de ortaya çıkabil-mektedir. Dismorfik yüz görünümüne sahip, doğumundan itibaren hipotonisi, beslenme güçlüğü, solunum sıkıntısı ve ağır serebral disgenezisi olan, metabolik tetkiklerinde çok uzun zincirli yağ asitlerindeki artış ile peroksizomal hastalık tanısı alan 4 aylık erkek olgu çok nadir görülmesi nedeniyle sunuldu.Anahtar kelimeler: peroksizomal hastalık, hipotoni, ağır beyin disgenezisi GİRİŞ Peroksizomlar yağ asitlerinin beta oksidasyonu ile safra asitleri ve plazmalojen gibi lipidlerin sentezinde görevli organellerdir. Peroksizomlar eritrosit hariç tüm hücrelerde bulunduğundan peroksizomal hastalıklarda çoklu sistem tutulumuna sıklıkla rastlanabilmektedir. Peroksizomal hastalıklar 3 ana kategoriye ayrılmaktadır: 1) peroksizom biyogenez kusurları, 2) peroksizomal enzim eksiklikleri, 3) peroksizomal substrat transport bozuklukları. Zellweger sendromu, neonatal adrenolökodistrofi, infantil Refsum hastalığı ve rizomelik kondrodisplazi punktata peroksizom biyogenez kusuru sonucu ortaya çıkmaktadır. D-bifonksiyonel protein (DBP) eksikliği peroksizomal enzim eksikliği, X-linked adrenolökodistrofi ise peroksizomal substrat transport bozukluğuna bağlı meydana gelmektedir [1,2]. Dismorfik yüz görünümüne sahip, doğumun-dan itibaren hipotonisi, beslenme güçlüğü, solunum sıkıntısı ve ağır serebral disgenezisi olan, ileri metabolik tetkikleri sonucu peroksizomal hastalık tanısı olan 4 aylık erkek olgu hastalığın ağır beyin tutulumuna dikkat çekmek amacıyla sunuldu. OLGUDört aylık erkek bebek solunum sıkıntısı, hipotoni ve beslenme güçlüğü şikayeti ile çocuk yoğun ba-

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“…Newborns show hypotonia, macrocephaly and rarely seizure [40]. At 3-6 months of age these infants show arrest of psychomotor development and framework of generalized spasticity [39]. Neonatal MRI may be normal although abnormalities of the lateral thalami, corona radiata, and dentate nuclei have been reported in one newborn [5].…”

Section: Krabbe Disease or Globoid-cell Leukodystrophymentioning

confidence: 99%

“…Krabbe disease or Globoid-Cell Leukodystrophy (GLD) is a neurodegenerative disorder with neonatal-infantile onset that is due to the deficiency of the lysosomal enzyme galactocerebroside β-galactosidase with subsequent accumulation in brain and other tissues [39]. Neonatal onset of GLD is exceptional [40] but clinical presentation is similar to the infantile form.…”

Section: Krabbe Disease or Globoid-cell Leukodystrophymentioning

confidence: 99%

Neonatal Seizures and Inborn Errors of Metabolism: An Update

Parisi¹,

Nicotera²,

Alagna³

et al. 2015

Int J Pediatr Neonat Care

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Early identification of an underlying inborn error of metabolism in newborns with otherwise unexplained seizures may address appropriate disease-specific treatment and provide important tools about the choice of the antiepileptic drugs.Neonatal seizures usually present as prolonged or recurrent, often configuring epileptic status. Striking features of an underlying metabolic disorder include abnormal neurological examination, lethargy and/ or symptoms of acute decompensation.Ex adiuvantibus, trial with intravenous pyridoxine administration could be attempted in refractory unexplained neonatal seizures. Peculiar EEG patterns such as Suppression Burst may address diagnosis and laboratory work-up being most frequently associated to specific metabolic disorders.

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Child Neurology: Zellweger syndrome

Cited by 45 publications

References 9 publications

Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome

Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome

Peroxisomal disorder characterized with severe cerebral dysgenesis and hypotonia

Neonatal Seizures and Inborn Errors of Metabolism: An Update

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