Respiratory sleep disorders in Jeune sindrome: a case description
| Autor: | G. Gioi, Monica Marica, Francesco Marrosu, Claudia Pani, Patrizia Congiu, Silvia Piga, Monica Puligheddu, Loredana Boccone |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Male
medicine.diagnostic_test Respiratory distress Ellis-Van Creveld Syndrome Physiology business.industry Polysomnography Infant Sleep apnea Cell Biology General Medicine medicine.disease Magnetic Resonance Imaging Stenosis Sleep Apnea Syndromes Respiratory failure Dysplasia Spinal decompression Anesthesia medicine Humans business Ellis–van Creveld syndrome |
| Zdroj: | Archives Italiennes de Biologie. |
| ISSN: | 0003-9829 |
| DOI: | 10.12871/000398292015240 |
| Popis: | Jeune syndrome (JS, also described as asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Significant life-threatening cervical spine abnormalities can be typical.Here we describe the case of a male infant of Sardinian origin, who developed respiratory distress and feeding difficulties from the first months, correlated with muscle\skeletal dysmorphism prevalent on chest. Nocturnal respiratory sleep alterations were reported from parents.After clinical, genetics, radiographic and cervical MRI investigations, ATD diagnosis with C1 stenosis. A full-night video-polysomnographic study was performed in order to evaluate the sleep apnea condition. The study showed a condition of tachipnea\tachicardia, with several short respiratory events during sleep, both obstructive and central type with apneahypopnea index (AHI) 17/ h, mean duration 3.7 sec with longest 20 sec.It can be hypothesized that the combination of altered respiratory and cardiac frequency is related to central type of sleep respiratory disorders consequent to C1 compression, while the obstructive minor component is related to thoracic restrictive disorders. Full night lab-polygraphy is recommended in dysmorphic skeletal disorders like JS. |
| Databáze: | OpenAIRE |
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