Preoperative Evaluation and

Intraoperative Management
of a Neonate with
Diastrophic Dysplasia

Presented by: Richa Taneja, MD

Anesthesiology Fellow, Children’s National Hospital
 AKNOWLEDGEMEN
• TS
Thank you to Dr. Challa and Dr. Geng-Ramos for
encouraging me to submit to SPA and for guiding me
throughout the process.
 OBJECTIVES
• Provide a brief introduction regarding Diastrophic
Dysplasia.
• By discussing our successful management of a pediatric
patient with diastrophic dysplasia, discuss the
importance of preoperative evaluation and planning in
this case.
• Discuss alternative management options and lessons
learned.
 Diastrophic dysplasia
• Rare, autosomal recessive genetic disorder (1 in 100,000
births)
• Results in abnormalities in bone, cartilage, connective
tissue, and muscle formation
• Commonly seen – short stature, shortened limbs, spinal
deformities, hitchhiker’s thumb, joint contractures,
clubfeet, cleft palate
 Anesthetic considerations
• Difficult ventilation and intubation
• Respiratory distress and restrictive lung disease
• Cervical kyphosis and instability
 Case report
• 2 month old male with diastrophic dysplasia presented to
POCC for bilateral percutaneous heel cord lengthening
surgery.

• Diagnosed in utero with diagnosis confirmed after birth.

 Case report
• Physical Exam Findings:
• Macrocephalic cranium
• Bilateral clubfeet
• Shortened upper and lower extremity limbs
• Mildly constricted chest without respiratory distress
• Cervical kyphosis
 Case report
• Preoperative Studies and Intraoperative Planning:
• In conjunction with ENT, orthopedics, neurology – cervical
MRI for potential instability
• Plan for GETA with standard monitoring, intubation with
fiberoptic bronchoscopy and cervical spine in-line
stabilization if necessary.
• ENT on standby and difficult airway cart in room
 Case report
• Intraoperative Management:
• Inhalation induction
• Placement of LMA with in-line stabilization
• Extubated without difficulty
 DISCUSSIOn
• Importance of preoperative planning and imaging
• Anticipate anesthetic difficulties and postoperative
ventilation
• Consider regional anesthesia
• Multidisciplinary approach leads to successful outcomes!
 References
• Lagoy, Jacqueline, Kofford, Nathaniel, Gosselin, Benoit, Russell, Michelle, Morley, Benjamin.
Management of a Parturient with Diastrophic Dysplasia. A&A Case Reports. 2015;5(1):6-8.
 
• Porter, M, Mendonca, C. Anaesthesia for caesarean section in a patient with diastrophic dwarfism.
International Journal of Obstetric Anesthesia. 2007;16(2):145-148.
 
• Diastrophic Dysplasia. In: Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ. eds. Syndromes: Rapid
Recognition and Perioperative Implications. McGraw-Hill; Accessed January 11,
2021. https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852&sectionid=49517491
THANK YOU!
QUESTIONS?