Rare case of a floppy neonate: Joubert syndrome
Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures. On physical examination, baby was alert; however, on neurological evaluation, there was generalis...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2021-01-01
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| Series: | Current Medicine Research and Practice |
| Subjects: | |
| Online Access: | http://www.cmrpjournal.org/article.asp?issn=2352-0817;year=2021;volume=11;issue=1;spage=47;epage=49;aulast=Ankur |
| Summary: | Joubert syndrome presenting during the neonatal period is very rare. We report a term neonate who presented with perinatal asphyxia followed by episodic tachypnoea interspersed with apnoea and seizures. On physical examination, baby was alert; however, on neurological evaluation, there was generalised hypotonia with panting of dog-like breathing. Magnetic resonance imaging of the brain finding revealed typical molar tooth sign suggestive of Joubert syndrome and fundus examination revealed retinal colobomas. |
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| ISSN: | 2352-0817 2352-0825 |