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Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy

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Abstract

Purpose

Pycnodysostosis (OMIM:265800) is an autosomal recessive genetic disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover and a deterioration of the bone structure. Our aim was to describe a 5 year-old patient affected by pycnodysostosis, associated with an extremely severe obstructive sleep apnea syndrome, who was treated effectively with a combination of upper airway surgery and positive pressure ventilation.

Methods

A 5 year-old child affected by pycnodysostosis was referred to us for failure to thrive, facial dysmorphisms and respiratory disorders, and who developed an extremely severe sleep apnea syndrome.

Results

Polysomnography showed extremely severe OSAS (AHI = 81.6 events/hour). The child was treated successfully with a combination of adenotonsillectomy, uvulo-palato-pharingo plasty (UPPP), followed by positive pressure ventilation. Polysomnographic recordings confirmed the striking reduction of obstructive respiratory events during sleep (from 81.6 to 12.3 events/hour). Lateral skull Rx and cephalometric measures showed that the Posterior Airway Space (PAS) increased from 3 to 19 mm. The decision to perform UPPP in association with adeno-tonsillectomy was motivated by the presence of palatal obstruction, caused by hypertrophic and prolapsed soft tissue.

Conclusions

Our observations suggest that a conservative surgical treatment, consisting of adenotonsillectomy plus UPPP, may increases the patency of the upper airway, both at palatal and pharyngeal level. The combination of adenotonsillectomy plus UPPP, followed by CPAP ventilation, may avoid tracheotomy in very severe OSAS patients.

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Acknowledgments

The authors thank their patient and her family for the great collaboration given to the study. We also thank Dr. Natacha Teissier for her kind help in providing details of the surgical procedure proposed for pycnodysostosis patients.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Neurosciences, Catholic University, Policlinico Universitario “A. Gemelli”; Largo Agostino Gemelli, n° 8 – 00168, Rome, Italy

    Giacomo Della Marca, Serena Dittoni, Anna Losurdo, Elisa Testani, Salvatore Colicchio & Valentina Gnoni

  2. Institute of Otorhinolaryngology, Catholic University, Policlinico Universitario “A. Gemelli”; Largo Agostino Gemelli, n° 8 – 00168, Rome, Italy

    Emanuele Scarano

  3. Department of Paediatrics, Catholic University, Policlinico Universitario “A. Gemelli”; Largo Agostino Gemelli, n° 8 – 00168, Rome, Italy

    Chiara Leoni & Giuseppe Zampino

  4. Pediatric Hospital “Bambino Gesù” IRCCS, Policlinico Universitario “A. Gemelli”; Largo Agostino Gemelli, n° 8 – 00168, Rome, Italy

    Catello Vollono

Authors
  1. Giacomo Della Marca
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  2. Emanuele Scarano
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  3. Chiara Leoni
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  4. Serena Dittoni
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  5. Anna Losurdo
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  6. Elisa Testani
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  7. Salvatore Colicchio
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  8. Valentina Gnoni
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  9. Catello Vollono
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  10. Giuseppe Zampino
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Corresponding author

Correspondence to Giacomo Della Marca.

Electronic supplementary material

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a Video-polysomnography performed before surgery. The child sleeps in prone position, in non-rapid eye movement (NREM) sleep. Four long-lasting (about 30 sec) obstructive or mixed apneas are shown, followed by loud snoring and arousal, characterized by gross body movements (the child stands up on bed to resume breathing). b Video-polysomnography performed after surgery. The baby sleeps in prone position, in NREM sleep. Continuous snoring is present, without apneas. c Video recording of sleep during CPAP ventilation, before surgery. The child sleeps supine. No polygraphic recording is shown. CPAP (10 cm H2O) suppressed all pathologic respiratory events. (MOV 6142 kb)

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Della Marca, G., Scarano, E., Leoni, C. et al. Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy. Sleep Breath 16, 5–10 (2012). https://doi.org/10.1007/s11325-010-0479-4

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  • DOI: https://doi.org/10.1007/s11325-010-0479-4

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