Joubert syndrome is a rare autosomal-recessive disease, and the description was coined by Dr. Marie Joubert in 1968 in a family presenting with breathing problems and certain central nervous system malformations in the form of hypotonia, cerebellar vermis hypoplasia, and developmental delay. There is a paucity of literature describing the clinical characteristics and types of sleep abnormalities in patients with Joubert’s syndrome. We report the case of a young child observed to have breathing difficulties since the early neonatal period. He was initially diagnosed with seizure disorder, with little improvement with antiepileptic medications. The child showed significant psychomotor retardation. Our patient continued to have breathing disorders, mainly recurrent apnoea and nocturnal hypoxemia, which further worsened the child’s development and mental status. A genetic study confirmed the diagnosis of Joubert’s syndrome, and polysomnography further confirmed the severity of sleep disorder of breathing, which included predominantly central apnoea. Bilevel positive airway pressure (BiPAP) therapy was initiated and resulted in a marked improvement in the apnoea/hypopnoea index (AHI) and sleep quality, especially in the rapid eye movement (REM) stage. As the clinical manifestations proven to be atypical, it might be very challenging for health care providers to prove the diagnosis. We highlight some difficulties faced when encountering these patients, starting from diagnostic confirmation, therapeutic intervention to the prognosis and outcome of such condition.
| Published in | American Journal of Pediatrics (Volume 7, Issue 2) |
| DOI | 10.11648/j.ajp.20210702.18 |
| Page(s) | 79-84 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Joubert Syndrome, Apnoeas, Central Apnoea, Polysomnography (PSG), Hypoventilation, Sleep Disorders of Breathing (SDB)
| [1] | Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969; 19: 813-25. |
| [2] | Maria BL, Hoang KB, Tusa RJ, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997; 12: 423-30. |
| [3] | Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999; 14: 583-90. |
| [4] | Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992; 43: 726-31. 13. |
| [5] | Merritt L. Recognition of the clinical signs and symptoms of Joubert syndrome. Adv Neonatal Care. 2003; 3: 178–86. |
| [6] | Elhassanien, AhmedFarag; Alghaiaty, HeshamAbdel-Aziz (2013). Joubert syndrome: Clinical and radiological characteristics of nine patients. Annals of Indian Academy of Neurology, 16 (2), 239. |
| [7] | Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A 2004; 1125-34. |
| [8] | Valente EM, Salpietro DC, Brancati F, et al. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet 2003; 73: 663-70. |
| [9] | Pellegrino JE, Lensch MW, Muenki M, Chance PF: Clinical and molecular analysis in Joubert syndrome. Am J Med Genet 1997; 72: 59-62. |
| [10] | Steinlin, M.; Schmid, M.; Landau, K.; Boltshauser, E. (1997). Follow-Up in Children with Joubert Syndrome. Neuropediatrics, 28 (4), 204–211. |
| [11] | Boltshauser E, Lange B, Dumermuth G: Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea). Brain Dev 1987; 9: 462-465. |
| [12] | Brancati F, Barrano G, Silhavy JL, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet 2007; 81: 104-13. |
| [13] | Bachmann-Gagescu J C Dempsey, I G Phelps, BJO’Roak, et al: Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 2015; J Med Genet; 52: 514–522. |
| [14] | Vilboux et al (2017) identified pathogenic variants in 81 (94%) of 86 families tested (100 individuals total) using a combination of 27- gene multigene panel and exome sequencing. |
| [15] | Jo Melissa Parisi, and Ian Glass. Joubert Syndrome and Related Disorders (JSRD). [Updated 2017 Jun 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Gene Reviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/. |
| [16] | Keeler LC, Marsh SE, Leeflang EP, et al. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11 p12-q13.3. Am J Hum Genet 2003; 73: 656-62. |
| [17] | Gorden NT, Arts HH, Parisi MA, et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet 2008; 83: 559-71. |
| [18] | Cantagrel V, Silhavy JL, Bielas SL, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 2008; 83: 170-9. |
| [19] | Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet 2007; 15: 511-21. |
| [20] | Justyna Paprocka, Ewa Jamroz, Joubert syndrome and related disorders. Neurologia Neurochirurgia Polska 2012; 46, 4: 379-383. |
| [21] | Boltshauser E, Forster I, Deonna T, Willi U: Joubert syndrome: Are kidneys involved? Neuropediatrics 1995; 26: 320-321. |
| [22] | Francesco Brancati; Bruno Dallapiccola; Enza Maria Valente: Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010; 5 (1), 20–9. |
| [23] | Rana, Mandeep; Mohanty, Mugdha (2018). The spectrum of sleep disordered breathing in Joubert Syndrome. Sleep Medicine, 52 (2018), 177–179. |
| [24] | Pascoe JE, Sarber K, Dye T, Simakajornboon: sleep disordered breathing in pediatric patient with Joubert’s syndrome: sleep 2018; (41): A289. |
| [25] | J. Cruz, D. G. Ingram, B. Al-Shawwa: sleep and Breathing Abnormalities in a Child with Joubert Syndrome. Am J Respir Crit Care Med 2020; 201: 7620. |
APA Style
Abdullah Saeed Al-Shamrani. (2021). Sleep and Breathing Disturbance in Joubert Syndrome: A Case Report. American Journal of Pediatrics, 7(2), 79-84. https://doi.org/10.11648/j.ajp.20210702.18
ACS Style
Abdullah Saeed Al-Shamrani. Sleep and Breathing Disturbance in Joubert Syndrome: A Case Report. Am. J. Pediatr. 2021, 7(2), 79-84. doi: 10.11648/j.ajp.20210702.18
AMA Style
Abdullah Saeed Al-Shamrani. Sleep and Breathing Disturbance in Joubert Syndrome: A Case Report. Am J Pediatr. 2021;7(2):79-84. doi: 10.11648/j.ajp.20210702.18
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Download@article{10.11648/j.ajp.20210702.18,
author = {Abdullah Saeed Al-Shamrani},
title = {Sleep and Breathing Disturbance in Joubert Syndrome: A Case Report},
journal = {American Journal of Pediatrics},
volume = {7},
number = {2},
pages = {79-84},
doi = {10.11648/j.ajp.20210702.18},
url = {https://doi.org/10.11648/j.ajp.20210702.18},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20210702.18},
abstract = {Joubert syndrome is a rare autosomal-recessive disease, and the description was coined by Dr. Marie Joubert in 1968 in a family presenting with breathing problems and certain central nervous system malformations in the form of hypotonia, cerebellar vermis hypoplasia, and developmental delay. There is a paucity of literature describing the clinical characteristics and types of sleep abnormalities in patients with Joubert’s syndrome. We report the case of a young child observed to have breathing difficulties since the early neonatal period. He was initially diagnosed with seizure disorder, with little improvement with antiepileptic medications. The child showed significant psychomotor retardation. Our patient continued to have breathing disorders, mainly recurrent apnoea and nocturnal hypoxemia, which further worsened the child’s development and mental status. A genetic study confirmed the diagnosis of Joubert’s syndrome, and polysomnography further confirmed the severity of sleep disorder of breathing, which included predominantly central apnoea. Bilevel positive airway pressure (BiPAP) therapy was initiated and resulted in a marked improvement in the apnoea/hypopnoea index (AHI) and sleep quality, especially in the rapid eye movement (REM) stage. As the clinical manifestations proven to be atypical, it might be very challenging for health care providers to prove the diagnosis. We highlight some difficulties faced when encountering these patients, starting from diagnostic confirmation, therapeutic intervention to the prognosis and outcome of such condition.},
year = {2021}
}
TY - JOUR T1 - Sleep and Breathing Disturbance in Joubert Syndrome: A Case Report AU - Abdullah Saeed Al-Shamrani Y1 - 2021/05/31 PY - 2021 N1 - https://doi.org/10.11648/j.ajp.20210702.18 DO - 10.11648/j.ajp.20210702.18 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 79 EP - 84 PB - Science Publishing Group SN - 2472-0909 UR - https://doi.org/10.11648/j.ajp.20210702.18 AB - Joubert syndrome is a rare autosomal-recessive disease, and the description was coined by Dr. Marie Joubert in 1968 in a family presenting with breathing problems and certain central nervous system malformations in the form of hypotonia, cerebellar vermis hypoplasia, and developmental delay. There is a paucity of literature describing the clinical characteristics and types of sleep abnormalities in patients with Joubert’s syndrome. We report the case of a young child observed to have breathing difficulties since the early neonatal period. He was initially diagnosed with seizure disorder, with little improvement with antiepileptic medications. The child showed significant psychomotor retardation. Our patient continued to have breathing disorders, mainly recurrent apnoea and nocturnal hypoxemia, which further worsened the child’s development and mental status. A genetic study confirmed the diagnosis of Joubert’s syndrome, and polysomnography further confirmed the severity of sleep disorder of breathing, which included predominantly central apnoea. Bilevel positive airway pressure (BiPAP) therapy was initiated and resulted in a marked improvement in the apnoea/hypopnoea index (AHI) and sleep quality, especially in the rapid eye movement (REM) stage. As the clinical manifestations proven to be atypical, it might be very challenging for health care providers to prove the diagnosis. We highlight some difficulties faced when encountering these patients, starting from diagnostic confirmation, therapeutic intervention to the prognosis and outcome of such condition. VL - 7 IS - 2 ER -
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