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Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders Cover

Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders

Journal of Mother and Child
Volume 29 (2025): Issue 1 (February 2025)
By: Zhanyl Baitokova,  Nursultan Erkinbek uulu,  Ajgul Matkeeva,  Maral Turdumatova and  Askarbekova Zhyldyz  
Open Access
|Dec 2025

Figures & Tables

Figure 1.

Impact of ATM mutation type on the severity of Louis-Bar Syndrome. Source: created based on analysis of data [13,14,15,16,17,18].
Impact of ATM mutation type on the severity of Louis-Bar Syndrome. Source: created based on analysis of data [13,14,15,16,17,18].

Figure 2.

Brain MRI of the eldest child (Patient 1): a) sagittal; b) axial sections. Healthy brain: c) sagittal; d) axial slices. The pathological features observed include severe cerebellar vermian atrophy, compensatory enlargement of the posterior cerebellar cistern, and marked decrease in overall cerebellar volume, with thinning of the cerebellar folia and deepening of the cerebellar sulci. Source: a-b were obtained during the study and c-d are reproduced from [34].
Brain MRI of the eldest child (Patient 1): a) sagittal; b) axial sections. Healthy brain: c) sagittal; d) axial slices. The pathological features observed include severe cerebellar vermian atrophy, compensatory enlargement of the posterior cerebellar cistern, and marked decrease in overall cerebellar volume, with thinning of the cerebellar folia and deepening of the cerebellar sulci. Source: a-b were obtained during the study and c-d are reproduced from [34].

Figure 3.

Brain MRI of the middle child (Patient 2): a) sagittal; b) axial sections*. Healthy brain: c) sagittal; d) axial slices. The pathological features observed include moderate vermian thinning and cerebellar hemispheric subatrophy with moderate sulcal widening. Source: a-b were obtained during the study and c-d are reproduced from [34].
Brain MRI of the middle child (Patient 2): a) sagittal; b) axial sections*. Healthy brain: c) sagittal; d) axial slices. The pathological features observed include moderate vermian thinning and cerebellar hemispheric subatrophy with moderate sulcal widening. Source: a-b were obtained during the study and c-d are reproduced from [34].

Figure 4.

Brain MRI of the youngest child (Patient 3): a) sagittal; b) axial sections*. Healthy brain: c) sagittal; d) axial slices. The pathological features observed include minimal vermian thinning and subtle sulcal widening with relatively preserved cerebellar volume. Source: a-b were obtained during the study and c-d are reproduced from [34].
Brain MRI of the youngest child (Patient 3): a) sagittal; b) axial sections*. Healthy brain: c) sagittal; d) axial slices. The pathological features observed include minimal vermian thinning and subtle sulcal widening with relatively preserved cerebellar volume. Source: a-b were obtained during the study and c-d are reproduced from [34].

Figure 5.

Telangiectasias on the conjunctivae of the eldest child, appearing as “spider-like” vascular lesions. Source: obtained during the course of the study.
Telangiectasias on the conjunctivae of the eldest child, appearing as “spider-like” vascular lesions. Source: obtained during the course of the study.

Figure 6.

Skin lesions in the youngest child: “café-au-lait” spots and an area of skin induration. Source: obtained during the course of the study.
Skin lesions in the youngest child: “café-au-lait” spots and an area of skin induration. Source: obtained during the course of the study.

Figure 7.

Family pedigree, demonstrating consanguineous marriage in the third generation. Source: based on data from the present study.
Family pedigree, demonstrating consanguineous marriage in the third generation. Source: based on data from the present study.

Diagnostic methods for ataxia-telangiectasia (Louis-Bar Syndrome)_

MethodPurpose
Clinical examinationDetection of ataxia, nystagmus, telangiectasia, dysarthria
ElectrophysiologyENMG (electroneuromyography) – diagnosis of peripheral neuropathy; evoked potentials – assessment of sensory impairments
Brain MRIIdentification of cerebellar atrophy, enlargement of the cisterna magna
Laboratory testsIgA, IgG, AFP (nephelometry), PCR for infections, γH2AX assay – evaluation of DNA instability
Pulmonary function testsSpirometry, pulse oximetry, blood gas analysis – diagnosis of broncho-obstructive syndrome
Genetic testingNGS, MLPA – confirmation of ATM, gene mutations, pedigree analysis

Treatment approaches for ataxia-telangiectasia (Louis-Bar Syndrome)_

Therapeutic approachTreatment methodsExpected outcome
Supportive therapyL-carnitine, coenzyme Q10, B vitamins, alpha-lipoic acid, vitamin EImprovement of neuronal energy metabolism, reduction of oxidative stress
ImmunomodulationIntravenous immunoglobulin (IVIG) therapyReduced frequency of infectious complications, maintenance of immune function
Antibacterial therapyMucolytics, macrolides, inhaled antibiotics, prolonged antibiotic courses for chronic infectionImproved bronchial patency, prevention of chronic respiratory infections
Respiratory therapyBronchial drainage, vibratory massage, breathing exercises, mechanical insufflation-exsufflation devices, positive expiratory pressure (PEP) therapyEnhanced pulmonary function, prevention of bronchiectasis and respiratory failure
Physiotherapy and rehabilitationTargeted exercises, coordination training, stabilisation techniquesSlowed progression of ataxia, maintenance of motor function
Genetic counsellingPrenatal diagnosis (PCR analysis of amniocytes), preimplantation genetic testing for monogenic disorders (PGT-M)Reduced risk of offspring with ataxia-telangiectasia
DOI: https://doi.org/10.34763/jmotherandchild.20252901.d-25-00038 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
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Language: English
Page range: 234 - 250
Submitted on: Sep 23, 2025
|
Accepted on: Nov 3, 2025
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Published on: Dec 24, 2025
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
Mutations,
Autosomal Recessive Inheritance,
Immunodeficiency,
Cerebellar Atrophy,
Family Genetic Counselling,
Telangiectasia,
Paediatrics,
Paediatric Neurology,
MRI Diagnostics,
Differential Diagnostics,
Ataxic Form of Cerebral Palsy,
Palliative Care
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health

© 2025 Zhanyl Baitokova, Nursultan Erkinbek uulu, Ajgul Matkeeva, Maral Turdumatova, Askarbekova Zhyldyz, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

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