Beyond premature apnea pauses: congenital myotonic dystrophy type 1.
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| Title: | Beyond premature apnea pauses: congenital myotonic dystrophy type 1. |
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| Alternate Title: | Más allá de las pausas de apnea en el prematuro: distrofia miotónica tipo 1 congénita. |
| Authors: | del Olmo Segura, Patricia1 patricia.olmo@salud.madrid.org, Solé Delgado, Carolina2, Martínez del Val, Elena3 |
| Source: | Andes Pediatrica. Oct2024, Vol. 95 Issue 5, p608-611. 4p. |
| Subjects: | PREMATURE infants, MYOTONIA atrophica, CARDIAC massage, NEUROMUSCULAR diseases, ACHILLES tendon |
| Abstract: | Congenital myotonic dystrophy type 1 (DM1) is a rare entity that can pose a diagnostic challenge, especially if other processes such as prematurity coexist. Objective: to describe the typical presentation of congenital DM1 and thus increase diagnostic suspicion. Clinical Case: A 29-week preterm female newborn who required non-invasive mechanical ventilation until 41 weeks postmenstrual age; she presented with apnea requiring manual ventilation with a self-inflating bag and cardiac massage. Initially, it was attributed to prematurity, but on physical examination, hypotonia, hyporeflexia, bilateral Achilles tendon retraction, facial diplegia, and weak sucking were confirmed. These characteristics, together with the respiratory compromise, suggested a possible congenital neuromuscular disease. The patient's history included infertility in the mother and polyhydramnios during gestation. The examination of the mother showed clinical myotonia, later confirmed by electromyogram, which suggested congenital myotonic dystrophy. This was confirmed genetically, finding 2000 CTG copies in the newborn and 833 in her mother. Conclusions: Apneas and respiratory compromise in a hy-potonic and weak newborn are a frequent manifestation of this disease. The presence of myotonia in the mother of a newborn with suspected neuromuscular disease should lead us to think of congenital DM1. This case highlights the importance of an exhaustive anamnesis and physical examination of the patient and her mother as key elements in the etiological diagnostic orientation. [ABSTRACT FROM AUTHOR] |
| Copyright of Andes Pediatrica is the property of Revista Chilena de Pediatria and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | MedicLatina |
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| Header | DbId: lth DbLabel: MedicLatina An: 181719495 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Beyond premature apnea pauses: congenital myotonic dystrophy type 1. – Name: TitleAlt Label: Alternate Title Group: TiAlt Data: Más allá de las pausas de apnea en el prematuro: distrofia miotónica tipo 1 congénita. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22del+Olmo+Segura%2C+Patricia%22">del Olmo Segura, Patricia</searchLink><relatesTo>1</relatesTo><i> patricia.olmo@salud.madrid.org</i><br /><searchLink fieldCode="AR" term="%22Solé+Delgado%2C+Carolina%22">Solé Delgado, Carolina</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Martínez+del+Val%2C+Elena%22">Martínez del Val, Elena</searchLink><relatesTo>3</relatesTo> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Andes+Pediatrica%22">Andes Pediatrica</searchLink>. Oct2024, Vol. 95 Issue 5, p608-611. 4p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22PREMATURE+infants%22">PREMATURE infants</searchLink><br /><searchLink fieldCode="DE" term="%22MYOTONIA+atrophica%22">MYOTONIA atrophica</searchLink><br /><searchLink fieldCode="DE" term="%22CARDIAC+massage%22">CARDIAC massage</searchLink><br /><searchLink fieldCode="DE" term="%22NEUROMUSCULAR+diseases%22">NEUROMUSCULAR diseases</searchLink><br /><searchLink fieldCode="DE" term="%22ACHILLES+tendon%22">ACHILLES tendon</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Congenital myotonic dystrophy type 1 (DM1) is a rare entity that can pose a diagnostic challenge, especially if other processes such as prematurity coexist. Objective: to describe the typical presentation of congenital DM1 and thus increase diagnostic suspicion. Clinical Case: A 29-week preterm female newborn who required non-invasive mechanical ventilation until 41 weeks postmenstrual age; she presented with apnea requiring manual ventilation with a self-inflating bag and cardiac massage. Initially, it was attributed to prematurity, but on physical examination, hypotonia, hyporeflexia, bilateral Achilles tendon retraction, facial diplegia, and weak sucking were confirmed. These characteristics, together with the respiratory compromise, suggested a possible congenital neuromuscular disease. The patient's history included infertility in the mother and polyhydramnios during gestation. The examination of the mother showed clinical myotonia, later confirmed by electromyogram, which suggested congenital myotonic dystrophy. This was confirmed genetically, finding 2000 CTG copies in the newborn and 833 in her mother. Conclusions: Apneas and respiratory compromise in a hy-potonic and weak newborn are a frequent manifestation of this disease. The presence of myotonia in the mother of a newborn with suspected neuromuscular disease should lead us to think of congenital DM1. This case highlights the importance of an exhaustive anamnesis and physical examination of the patient and her mother as key elements in the etiological diagnostic orientation. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Andes Pediatrica is the property of Revista Chilena de Pediatria and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.32641/andespediatr.v95i5.5092 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 4 StartPage: 608 Subjects: – SubjectFull: PREMATURE infants Type: general – SubjectFull: MYOTONIA atrophica Type: general – SubjectFull: CARDIAC massage Type: general – SubjectFull: NEUROMUSCULAR diseases Type: general – SubjectFull: ACHILLES tendon Type: general Titles: – TitleFull: Beyond premature apnea pauses: congenital myotonic dystrophy type 1. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: del Olmo Segura, Patricia – PersonEntity: Name: NameFull: Solé Delgado, Carolina – PersonEntity: Name: NameFull: Martínez del Val, Elena IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: Oct2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 24526045 Numbering: – Type: volume Value: 95 – Type: issue Value: 5 Titles: – TitleFull: Andes Pediatrica Type: main |
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