| Autor: |
Icaro França Navarro Pinto, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina Souza Jorge, Emília Correa Souto, Paulo de Lima Serrano, Roberta Ismael Lacerda Machado, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi Souza |
| Rok vydání: |
2021 |
| Zdroj: |
São Paulo Medical Journal. |
| DOI: |
10.5327/1516-3180.121 |
| Popis: |
Context: PURA syndrome is a neurodevelopmental disorder characterized by neonatal hypotonia, delayed psychomotor development, early-onset feeding difficulties and an epileptic encephalopathy. Case Report: A 3-month-old Brazilian boy presented with severe neonatal hypotonia associated with feeding difficulties due to serious dysphagia requiring nasoenteral tube feeding. Excessive drowsiness, poor social interaction and repetitive episodes of involuntary abnormal upward eye movements and ocular version with short duration were also reported by parents. Neurological examination revealed severe axial and upper limb hypotonia, orofacial dyskinetic movements and episodes of abnormal eye movements with upward ocular deviation with less than 30 seconds in duration compatible with oculogyric crisis. It was performed Whole-Exome sequencing and it was identified a new pathogenic variant in PURA gene that establisehd the final diagnosis of PURA Syndrome or Autosomal Dominant Mental Retardation type 31, MDR 31 (OMIM #616158). Conclusions: PURA Syndrome emerges as one of the major differential diagnoses of neonatal hypotonia and in addition, we can consider the early manifestation of oculogyric crisis as a phenotypic expansion of the syndrome, making its diagnosis even more challenging, since epileptic encephalopathies and neurotransmitter deficiency-related diseases present with a similar clinical course. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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