Joubert syndrome: a case report of neonatal presentation and early diagnosis
Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000–1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the ma...
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| Format: | Article |
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Permanyer
2023-01-01
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| Series: | Boletín Médico del Hospital Infantil de México |
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| Online Access: | https://www.bmhim.com/frame_esp.php?id=376 |
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| author | Carla I. González-Gordillo Leslie E. Orozco-Soto Juan R. Osegueda-Mayen Alejandra Nava-Tapia Dario Martinez-Monreal |
| author_facet | Carla I. González-Gordillo Leslie E. Orozco-Soto Juan R. Osegueda-Mayen Alejandra Nava-Tapia Dario Martinez-Monreal |
| author_sort | Carla I. González-Gordillo |
| collection | DOAJ |
| description | Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000–1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the “molar tooth sign,” hypotonia, and delayed neurodevelopment. Case report: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the “molar tooth sign,” where the pathognomonic sign of Joubert syndrome. Conclusions: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient’s quality of life with a multidisciplinary management and genetic counseling.
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| first_indexed | 2024-03-12T21:54:22Z |
| format | Article |
| id | doaj.art-a8a1bf2dfcd9415aa97bd0edb1ef03ad |
| institution | Directory Open Access Journal |
| issn | 0539-6115 |
| language | English |
| last_indexed | 2024-03-12T21:54:22Z |
| publishDate | 2023-01-01 |
| publisher | Permanyer |
| record_format | Article |
| series | Boletín Médico del Hospital Infantil de México |
| spelling | doaj.art-a8a1bf2dfcd9415aa97bd0edb1ef03ad2023-07-25T20:15:43ZengPermanyerBoletín Médico del Hospital Infantil de México0539-61152023-01-01809110.24875/BMHIM.22000075Joubert syndrome: a case report of neonatal presentation and early diagnosisCarla I. González-Gordillo0Leslie E. Orozco-Soto1Juan R. Osegueda-Mayen2Alejandra Nava-Tapia3Dario Martinez-Monreal4Unidad de Neonatología, Centro Médico ABC, Mexico City, MexicoUnidad de Neonatología, Centro Médico ABC, Mexico City, MexicoUnidad de Neonatología, Centro Médico ABC, Mexico City, MexicoUnidad de Genética Médica, Hospital Ángeles Universidad, Mexico City, MexicoUnidad de Imagenología, Hospital General Regional No. 270, Instituto Mexicano del Seguro Social, Reynosa, Tamaulipas. MexicoBackground: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000–1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the “molar tooth sign,” hypotonia, and delayed neurodevelopment. Case report: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the “molar tooth sign,” where the pathognomonic sign of Joubert syndrome. Conclusions: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient’s quality of life with a multidisciplinary management and genetic counseling. https://www.bmhim.com/frame_esp.php?id=376Tachypnea. Apnea. Joubert syndrome. Genetic diseases. |
| spellingShingle | Carla I. González-Gordillo Leslie E. Orozco-Soto Juan R. Osegueda-Mayen Alejandra Nava-Tapia Dario Martinez-Monreal Joubert syndrome: a case report of neonatal presentation and early diagnosis Boletín Médico del Hospital Infantil de México Tachypnea. Apnea. Joubert syndrome. Genetic diseases. |
| title | Joubert syndrome: a case report of neonatal presentation and early diagnosis |
| title_full | Joubert syndrome: a case report of neonatal presentation and early diagnosis |
| title_fullStr | Joubert syndrome: a case report of neonatal presentation and early diagnosis |
| title_full_unstemmed | Joubert syndrome: a case report of neonatal presentation and early diagnosis |
| title_short | Joubert syndrome: a case report of neonatal presentation and early diagnosis |
| title_sort | joubert syndrome a case report of neonatal presentation and early diagnosis |
| topic | Tachypnea. Apnea. Joubert syndrome. Genetic diseases. |
| url | https://www.bmhim.com/frame_esp.php?id=376 |
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