Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis

Ries, M.; Deeg, Karl‐Heinz; Wolfel, Donald A.; Ibel, H.; Maier, Bernhard; Buheitel, G.

doi:10.1007/bf02012489

Cited by 13 publications

(6 citation statements)

References 21 publications

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“…It can be observed that hydrops, ascites, and edema are the distinguishing features of the severe, congenital group of the disease, followed by coarse features, dysostosis multiplex, and hepatosplenomegaly. Renal involvement, cardiac anomalies, ophthalmic finding, myoclonus, inguinal hernia, telangiectasias, petechiae, bluish to purpuric macules and hydrocephalus are the clinical features that may infrequently manifest [ 9 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Studies reporting histopathological features of congenital sialidosis are limited.…”

Section: Morphological and Clinical Aspects Of Sialidosis And mentioning

confidence: 99%

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

Khan

Sergi

2018

Diagnostics

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Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acetyl neuraminidase deficiency resulting from a mutation in the neuraminidase gene (NEU1), located on 6p21.33. This genetic alteration leads to abnormal intracellular accumulation as well as urinary excretion of sialyloligosaccharides. A definitive diagnosis is made after the identification of a mutation in the NEU1 gene. So far, 40 mutations of NEU1 have been reported. An association exists between the impact of the individual mutations and the severity of clinical presentation of sialidosis. According to the clinical symptoms, sialidosis has been divided into two subtypes with different ages of onset and severity, including sialidosis type I (normomorphic or mild form) and sialidosis type II (dysmorphic or severe form). Sialidosis II is further subdivided into (i) congenital; (ii) infantile; and (iii) juvenile. Despite being uncommon, sialidosis has enormous clinical relevance due to its debilitating character. A complete understanding of the underlying pathology remains a challenge, which in turn limits the development of effective therapeutic strategies. Furthermore, in the last few years, some atypical cases of sialidosis have been reported as well. We herein attempt to combine and discuss the underlying molecular biology, the clinical features, and the morphological patterns of sialidosis type I and II.

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Section: Morphological and Clinical Aspects Of Sialidosis And mentioning

confidence: 99%

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

Khan

Sergi

2018

Diagnostics

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“…Echogenitä tsvermehrungen werden zwar hä ufig nach prä natalen Infektionen gefunden, sind jedoch hierfü r nicht spezifisch, da sie auch bei einer Trisomie 13 und bei Stoffwechselerkrankungen beschrieben wurden [3,5,25,26,28,37].…”

Section: Diskussionunclassified

Sonographische Diagnose von Komplikationen nach Meningoenzephalitiden im Säuglingsalter

Ries

Deeg

Bagatzounis

1997

Monatsschrift Kinderheilkunde

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Angeborene und erworbene Infektionen des ZNS fü hren v. a. in der Neonatalperiode und im Sä uglingsalter hä ufig trotz einer adä quaten Therapie zu schweren neurologischen Schä digungen.Mit Hilfe der zerebralen Ultrasonographie kann man strukturelle Verä nderungen diagnostizieren. Außerdem ist man in der Lage, Gefäßanomalien und intrazerebrale Blutflußgeschwindigkeiten Doppler-und farb-Doppler-sonographisch zu erfassen.Das Ziel dieser Arbeit war es, den Stellenwert der Sonographie bei der Diagnostik von Komplikationen entzü ndlicher ZNS-Erkrankungen bei Neugeborenen und Sä uglingen herauszuarbeiten. Schlü sselwö rterUltrasonographie -Meningoenzephalitis -Neugeborene -Sä uglinge 364 KLINIK UND FORSCHUNG a b c Abb. 1. a-c. Erreger, a prä nataler Infektionen (n = 14), b eitriger ZNS-Infektionen bei Neugeborenen (n = 25), c eitriger ZNS-Infektionen im Sä uglingsalter (n = 56)

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“…1 4 5 8 Histopathological examination shows that most lenticulostriate arteries involved in LSV are medium sized, have thickened and hypercellular walls without fibrosis or hyalinisation, but with intramural and perivascular deposition of amorphous basophilic material, iron, and calcium, 4 5 9 and signs of vessel wall damage. 4 Since the initial description of LSV by Grant et al 10 in 1985, more than 25 reports of neonatal LSV have been published, in which LSV appeared to be associated with a variety of congenital and acquired neonatal conditions, such as fetal and neonatal infections, mainly cytomegalovirus, 1-4 6-9 11-15 chromosomal aberrations, 2-4 6 8 9 16 17 hypoxic/ischaemic conditions, [4][5][6] congenital heart disease, 4 fetal alcohol or drug exposure, [3][4][5][6] congenital malformations, 1 4 6 neonatal lupus erythematosus, 3 6 twin to twin transfusion, 18 sialidosis, 19 hydrops fetalis, 6 and diabetic fetopathy. 1 Most published reports of LSV are either of large retrospective studies [2][3][4][5][6][7] or are case reports, [10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] except for one prospective study by Kriss et al 8 in w...…”

mentioning

confidence: 99%

Neonatal lenticulostriate vasculopathy: further characterisation

Makhoul

Eisenstein²,

Sujov³

et al. 2003

Archives of Disease in Childhood - Fetal and Neonatal Edition

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Background: Lenticulostriate vasculopathy (LSV) is sometimes detected on routine brain ultrasonography in neonates, and is often associated with various perinatal and neonatal abnormalities. However, most reports on LSV are retrospective with no controls. Objectives: To compare the perinatal and neonatal clinical characteristics of neonates with LSV with matched controls and to summarise all published reports of LSV. Design: A prospective study that summarises the clinical, laboratory, and neurosonographic data of neonates with LSV. Methods: Of 1184 neonates admitted to the neonatal intensive care unit (NICU) during a three year period, 857 had a routine head ultrasound examination. Twenty one had LSV, and were compared with 42 matched controls with regard to gestational, perinatal, neonatal, laboratory, and neurosonographic characteristics. Results: LSV was detected in 21 of the 857 (2.45%) neonates. It was bilateral in 10 of the 21 cases and located in the thalamus (n = 14) and basal ganglia (n = 7). Infants with LSV were not significantly different from matched controls in most tested variables. However, compared with the control group, the LSV group included significantly more multiple births and more disturbances in amniotic fluid volume, but less meconial amniotic fluid. In addition, the patients with LSV required fewer blood transfusions and less phototherapy. Conclusions: Except for more multiple births, neonates with LSV did not display more adverse findings than their matched controls.

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Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis

Cited by 13 publications

References 21 publications

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

Sonographische Diagnose von Komplikationen nach Meningoenzephalitiden im Säuglingsalter

Neonatal lenticulostriate vasculopathy: further characterisation

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