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Book ; Thesis: Einfluß frühkindlicher Hörstörungen auf die Reifung der frühen akustische evozierten Potentiale (FAEP)

Tibussek, Daniel

1999

Author's details	vorgelegt von Daniel Tibussek
Language	German
Size	104 S. : graph. Darst.
Document type	Book ; Thesis
Thesis / German Habilitation thesis	Köln, Univ., Diss., 1999
HBZ-ID	HT010408194
Database	Catalogue ZB MED Medicine, Health

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Article ; Online: Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of Neuropediatrics.

Ramantani, Georgia / Bölsterli, Bigna K / Alber, Michael / Klepper, Joerg / Korinthenberg, Rudolf / Kurlemann, Gerhard / Tibussek, Daniel / Wolff, Markus / Schmitt, Bernhard

Neuropediatrics

2022 Volume 53, Issue 6, Page(s) 389–401

Abstract: Objectives: The manuscript serves as an update on the current management practices for infantile spasm syndrome (ISS). It includes a detailed summary of the level of current evidence of different treatment options for ISS and gives recommendations for ... ...

Abstract	Objectives: The manuscript serves as an update on the current management practices for infantile spasm syndrome (ISS). It includes a detailed summary of the level of current evidence of different treatment options for ISS and gives recommendations for the treatment and care of patients with ISS. Methods: A literature search was performed using the Cochrane and Medline Databases (2014 to July 2020). All studies were objectively rated using the Scottish Intercollegiate Guidelines Network. For recommendations, the evidence from these studies was combined with the evidence from studies used in the 2014 guideline. Recommendations: If ISS is suspected, electroencephalography (EEG) should be performed within a few days and, if confirmed, treatment should be initiated immediately. Response to first-line treatment should be evaluated clinically and electroencephalographically after 14 days. The preferred first-line treatment for ISS consists of either hormone-based monotherapy (AdrenoCorticoTropic Hormone [ACTH] or prednisolone) or a combination of hormone and vigabatrin. Children with tuberous sclerosis complex and those with contraindications against hormone treatment should be treated with vigabatrin. If first-line drugs are ineffective, second-line treatment options such as ketogenic dietary therapies, sulthiame, topiramate, valproate, zonisamide, or benzodiazepines should be considered. Children refractory to drug therapy should be evaluated early for epilepsy surgery, especially if focal brain lesions are present. Parents should be informed about the disease, the efficacy and adverse effects of the medication, and support options for the family. Regular follow-up controls are recommended.
MeSH term(s)	Humans ; Infant ; Adrenocorticotropic Hormone/therapeutic use ; Anticonvulsants/therapeutic use ; Epilepsy/drug therapy ; Spasms, Infantile/diagnosis ; Spasms, Infantile/drug therapy ; Syndrome ; Vigabatrin/therapeutic use
Chemical Substances	Adrenocorticotropic Hormone (9002-60-2) ; Anticonvulsants ; Vigabatrin (GR120KRT6K)
Language	English
Publishing date	2022-07-26
Publishing country	Germany
Document type	Journal Article
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/a-1909-2977
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Infantile Idiopathic Intracranial Hypertension: A Case Study and Review of the Literature.

Boles, Sama / Martinez-Rios, Claudia / Tibussek, Daniel / Pohl, Daniela

Journal of child neurology

2019 Volume 34, Issue 13, Page(s) 806–814

Abstract: Idiopathic intracranial hypertension, or pseudotumor cerebri, is an increase in cerebrospinal fluid pressure of unknown etiology. It is mostly seen in adults, less frequently in adolescents, rarely in younger children. Only 5 infants meeting idiopathic ... ...

Abstract	Idiopathic intracranial hypertension, or pseudotumor cerebri, is an increase in cerebrospinal fluid pressure of unknown etiology. It is mostly seen in adults, less frequently in adolescents, rarely in younger children. Only 5 infants meeting idiopathic intracranial hypertension criteria have been mentioned in the literature. We report a case of a previously healthy 9-month-old boy who presented with irritability, decreased appetite, and a bulging fontanelle. Computed tomography (CT) head imaging and cerebrospinal fluid studies revealed normal results. The patient's symptoms transiently resolved after the initial lumbar puncture, but 11 days later, his fontanelle bulged again. A second lumbar puncture revealed an elevated opening pressure of 35 cmH
MeSH term(s)	Brain/diagnostic imaging ; Diagnosis, Differential ; Humans ; Infant ; Male ; Pseudotumor Cerebri/diagnosis ; Pseudotumor Cerebri/drug therapy
Language	English
Publishing date	2019-07-16
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	639288-x
ISSN	1708-8283 ; 0883-0738
ISSN (online)	1708-8283
ISSN	0883-0738
DOI	10.1177/0883073819860393
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Article ; Conference proceedings: P 1164. Pre-wallerian Degeneration versus New Ischemic Infarction

Harmsen, Stefani / Distelmaier, Felix / Tibussek, Daniel

Neuropediatrics

2018 Volume 49, Issue S 02

Event/congress	Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics, Berlin, 2018-10-30
Language	English
Publishing date	2018-10-01
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article ; Conference proceedings
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/s-0038-1676028
Database	Thieme publisher's database

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Article ; Conference proceedings: FV 1165. Limb Ischemia and Arterial Ischemic Stroke in a Newborn: Coincidence or Common Cause?

Tibussek, Daniel / Fazeli, Walid / Camara, Rokya

Neuropediatrics

2018 Volume 49, Issue S 02

Event/congress	Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics, Berlin, 2018-10-30
Language	English
Publishing date	2018-10-01
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article ; Conference proceedings
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/s-0038-1675948
Database	Thieme publisher's database

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Article: Post stroke hemi-dystonia in children: a neglected area of research.

Tibussek, Daniel / Mayatepek, Ertan / Klee, Dirk / Koy, Anne

Molecular and cellular pediatrics

2015 Volume 2, Issue 1, Page(s) 14

Abstract: Background: Childhood arterial ischemic stroke (CAIS) is increasingly recognized as an important cause of significant long-term morbidity in the pediatric population. Post stroke movement disorders, above all hemi-dystonias, are much more common in ... ...

Abstract	Background: Childhood arterial ischemic stroke (CAIS) is increasingly recognized as an important cause of significant long-term morbidity in the pediatric population. Post stroke movement disorders, above all hemi-dystonias, are much more common in children after stroke compared to adults. However, research in this field is largely lacking. By highlighting some important knowledge gaps, we aim to encourage future collaborative research projects in this particular field. Findings: Post stroke-dystonia seems to be much more common among children than adults. However, no reliable epidemiological data of post-stroke movement disorders in childhood are available, and differentiation between spasticity and dystonia can be challenging. Pharmacotherapy for dystonia is limited by lack of effect, especially in the long-term treatment. The pathophysiology of dystonia is complex and incompletely understood. Recent findings from functional imaging studies suggest that dystonia does not result from a single lesion but rather network dysfunctions and abnormalities in functional connectivity. However, very few patients with post stroke dystonia have been studied, and it is not clear to what extent pathophysiology of primary and post stroke ischemia shares common characteristics on network level. In general, progress in understanding the nature of childhood dystonia lags far behind adult onset CNS diseases. Conclusions: Dystonia after CAIS is a common yet insufficiently understood and poorly studied clinical challenge. Studies to improve our understanding of the underlying pathophysiology and consequently the development of instruments for early prediction as well as targeted treatment of dystonia should become a high priority in collaborative childhood stroke research.
Language	English
Publishing date	2015-12-11
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2785551-X
ISSN	2194-7791
ISSN	2194-7791
DOI	10.1186/s40348-015-0026-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of Neuropediatrics

Ramantani, Georgia / Bölsterli, Bigna K. / Alber, Michael / Klepper, Joerg / Korinthenberg, Rudolf / Kurlemann, Gerhard / Tibussek, Daniel / Wolff, Markus / Schmitt, Bernhard

Neuropediatrics

2022 Volume 53, Issue 06, Page(s) 389–401

Abstract	Objectives: The manuscript serves as an update on the current management practices for infantile spasm syndrome (ISS). It includes a detailed summary of the level of current evidence of different treatment options for ISS and gives recommendations for the treatment and care of patients with ISS. Methods: A literature search was performed using the Cochrane and Medline Databases (2014 to July 2020). All studies were objectively rated using the Scottish Intercollegiate Guidelines Network. For recommendations, the evidence from these studies was combined with the evidence from studies used in the 2014 guideline. Recommendations: If ISS is suspected, electroencephalography (EEG) should be performed within a few days and, if confirmed, treatment should be initiated immediately. Response to first-line treatment should be evaluated clinically and electroencephalographically after 14 days. The preferred first-line treatment for ISS consists of either hormone-based monotherapy (AdrenoCorticoTropic Hormone [ACTH] or prednisolone) or a combination of hormone and vigabatrin. Children with tuberous sclerosis complex and those with contraindications against hormone treatment should be treated with vigabatrin. If first-line drugs are ineffective, second-line treatment options such as ketogenic dietary therapies, sulthiame, topiramate, valproate, zonisamide, or benzodiazepines should be considered. Children refractory to drug therapy should be evaluated early for epilepsy surgery, especially if focal brain lesions are present. Parents should be informed about the disease, the efficacy and adverse effects of the medication, and support options for the family. Regular follow-up controls are recommended.
Keywords	epilepsy ; infantile spasms ; infantile spasm syndrome ; West syndrome ; guideline
Language	English
Publishing date	2022-07-26
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/a-1909-2977
Database	Thieme publisher's database

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Article ; Online: "Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.

Tibussek, Daniel / Ghosh, Sujal / Huebner, Angela / Schaper, Joerg / Mayatepek, Ertan / Koehler, Katrin

BMC pediatrics

2018 Volume 18, Issue 1, Page(s) 6

Abstract: Background: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS ... ...

Abstract	Background: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A syndrome illustrating the importance of alacrima as an early clinical sign. Case presentation: A 3.5 year old girl presented with repeated hypoglycaemic myoclonic events. Adrenal insufficiency was diagnosed. In addition, alacrima, obvious since early infancy, was incidentally reported by the mother and finally lead to the clinical diagnosis of triple A syndrome. This was confirmed by positive mutation analysis of the AAAS gene. The second patient, an 8 months old boy was presented because of anisocoria and unilateral optic atrophy. MRI revealed cerebellar vermis hypotrophy. Psychomotor retardation, failure to thrive, and frequent vomiting lead to further diagnostic work-up. Achalasia was diagnosed radiologically. In addition, the mother mentioned absence of tears since birth leading to the clinical diagnosis of triple A syndrome. In contrast to the first cases genetic testing was negative. Conclusion: These two patients illustrate the heterogeneity of triple A syndrome in both terms, clinical expression and genetic testing. We particularly aim to stress the importance of alacrima, which should be considered as a red flag symptom. Further differential diagnosis is required in every child affected by alacrima.
MeSH term(s)	Adrenal Insufficiency/complications ; Adrenal Insufficiency/diagnosis ; Child, Preschool ; Crying ; Esophageal Achalasia/complications ; Esophageal Achalasia/diagnosis ; Eye Diseases, Hereditary/etiology ; Female ; Humans ; Infant ; Lacrimal Apparatus Diseases/etiology ; Male
Language	English
Publishing date	2018--15
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2041342-7
ISSN	1471-2431 ; 1471-2431
ISSN (online)	1471-2431
ISSN	1471-2431
DOI	10.1186/s12887-017-0973-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Gadolinium Brain Deposition after Macrocyclic Gadolinium Administration: A Pediatric Case-Control Study.

Tibussek, Daniel / Rademacher, Christin / Caspers, Julian / Turowski, Bernd / Schaper, Jörg / Antoch, Gerald / Klee, Dirk

Radiology

2017 Volume 285, Issue 1, Page(s) 223–230

Abstract: Purpose To determine whether signal intensity (SI) in T1 sequences as a potential indicator of gadolinium deposition increases after repeated administration of the macrocyclic gadolinium-based contrast agents (GBCAs) gadoteridol and gadoterate meglumine ... ...

Abstract	Purpose To determine whether signal intensity (SI) in T1 sequences as a potential indicator of gadolinium deposition increases after repeated administration of the macrocyclic gadolinium-based contrast agents (GBCAs) gadoteridol and gadoterate meglumine in a pediatric cohort. Materials and Methods This retrospective case-control study of children with brain tumors who underwent nine or more contrast material-enhanced brain magnetic resonance (MR) imaging studies from 2008 to 2015 was approved by the local ethics board. Informed consent was obtained for MR imaging. Twenty-four case patients aged 5-18 years and appropriate control patients with nonpathologic MR neuroimaging findings (and no GBCA administration), matched for age and sex, were inculded. SI was measured on unenhanced T1-weighted MR images for the following five regions of interest (ROIs): the dentate nucleus (DN), pons, substantia nigra (SN), pulvinar thalami, and globus pallidus (GP). Paired t tests were used to compare SI and SI ratios (DN to pons, GP to thalamus) between case patients and control patients. Pearson correlations between relative signal changes and the number of GBCA administrations and total GBCA dose were calculated. Results The mean number of GBCA administrations was 14.2. No significant differences in mean SI for any ROI and no group differences were found when DN-to-pons and GP-to-pulvinar ratios were compared (DN-to-pons ratio in case patients: mean, 1.0083 ± 0.0373 [standard deviation]; DN-to-pons ratio in control patients: mean, 1.0183 ± 0.01917; P = .37; GP-to-pulvinar ratio in case patients: mean, 1.1335 ± 0.04528; and GP-to-pulvinar ratio in control patients: mean, 1.1141 ± 0.07058; P = .29). No correlation was found between the number of GBCA administrations or the total amount of GBCA administered and signal change for any ROI. (Number of GBCA applications: DN: r = -0.254, P = .31; pons: r = -0.097, P = .65; SN: r = -0.194, P = .38; GP: r = -0.175, P = .41; pulvinar: r = -0.067, P = .75; total amount of administered GBCA: DN: r = 0.091, P = .72; pons: r = 0.106, P = .62; SN: r = -0.165, P = .45; GP: r = 0.111, P = .61; pulvinar: r = 0.173, P = .42.) Conclusion Multiple intravenous administrations of these macrocyclic GBCAs in children were not associated with a measurable increase in SI in T1 sequences as an indicator of brain gadolinium deposition detectable by using MR imaging. Additional imaging and pathologic studies are needed to confirm these findings.
MeSH term(s)	Administration, Intravenous ; Adolescent ; Brain/diagnostic imaging ; Brain/drug effects ; Brain/metabolism ; Brain/pathology ; Case-Control Studies ; Child ; Child, Preschool ; Contrast Media/administration & dosage ; Contrast Media/metabolism ; Contrast Media/pharmacology ; Contrast Media/therapeutic use ; Female ; Gadolinium/administration & dosage ; Gadolinium/metabolism ; Gadolinium/pharmacology ; Gadolinium/therapeutic use ; Humans ; Magnetic Resonance Imaging ; Male ; Meglumine/administration & dosage ; Meglumine/metabolism ; Meglumine/pharmacology ; Meglumine/therapeutic use ; Organometallic Compounds/administration & dosage ; Organometallic Compounds/metabolism ; Organometallic Compounds/pharmacology ; Organometallic Compounds/therapeutic use ; Retrospective Studies
Chemical Substances	Contrast Media ; Organometallic Compounds ; Meglumine (6HG8UB2MUY) ; Gadolinium (AU0V1LM3JT) ; gadoterate meglumine (L0ND3981AG)
Language	English
Publishing date	2017-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	80324-8
ISSN	1527-1315 ; 0033-8419
ISSN (online)	1527-1315
ISSN	0033-8419
DOI	10.1148/radiol.2017161151
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Article ; Online: Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia?

Koy, Anne / Freynhagen, Rainer / Mayatepek, Ertan / Tibussek, Daniel

Journal of child neurology

2012 Volume 27, Issue 2, Page(s) 191–196

Abstract: Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic ... ...

Abstract	Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardation, and deafness, clinically similar to patients with hereditary sensory and autonomic neuropathy type II. Detailed molecular studies in case 1 for all known genes that are associated with hereditary sensory and autonomic neuropathies were negative. However, the occurrence of the 2 cases within 1 kindred makes a common genetic background likely. We, therefore, propose a Turkish variant of familial dysautonomia in these 2 patients.
MeSH term(s)	Child ; Hereditary Sensory and Autonomic Neuropathies/diagnosis ; Humans ; Male ; Turkey ; Young Adult
Language	English
Publishing date	2012-02
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	639288-x
ISSN	1708-8283 ; 0883-0738
ISSN (online)	1708-8283
ISSN	0883-0738
DOI	10.1177/0883073811416664
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