laryngomalacia is the most common congenital anomaly of the larynx and the commonest cause of stridor of unknown aetiology in infants , and accounts for around 75% of all laryngeal problems in infancy .
osteogenesis imperfecta is a rare congenital anomaly of the connective tissues caused by the mutation of collagen type 1 , colia1 or colia2 genes .
it affects the bones , sclera and the inner ear and has an incidence of about 1 in 50,000 .
the co - existence of these diseases is rare and it presents unique anatomical and physiological challenges to the anaesthesiologist making every form of anaesthesia difficult .
a 6-month - old male infant , 3.5 kg in weight , presented with the history of refusal to feed , tender abdomen , swelling in the right groin and constipation since 3 days .
the child had a history of stridorous breathing since birth and was subsequently diagnosed as a case of congenital laryngomalacia .
he was a full - term delivery by caesarean section for meconium - stained liquor .
the infant was kept in the intensive care unit ( icu ) for 3 days post - delivery for breathing difficulties and neonatal jaundice .
the child underwent a high resolution computed tomography ( hrct ) imaging of the chest along with virtual bronchoscopy to rule out any obstruction in the airway and there was a chance finding of three ununited rib fractures of the left side ( 4 , 5and 6 ) [ figure 2 ] .
subsequent paediatric , orthopaedic and ophthalmologic evaluations revealed blue sclera , spontaneous rib fractures , failure to thrive and multiple hernias ( umbilical and right inguinal ) because of the lax abdominal wall .
retrognathia in the child rib fractures seen in the ct scan high - risk consent and consent for post - operative ventilation was obtained .
a paediatric fibreoptic bronchoscope was not available , so direct laryngoscopy was performed with a shoulder pad in place and intubation was achieved in the second attempt using size 1 miller blade , and a 3.5-mm uncuffed enotracheal tube ( ett ) was inserted . on direct laryngoscopy , the view was cormack - lehane grade iii .
atracurium 0.5 mg / kg was administered and anaesthesia was maintained with oxygen , nitrous oxide , and sevoflurane . monitoring devices included a pulse oximeter , cardioscope , non - invasive blood pressure monitor , temperature monitor and capnometer .
a quiet and pain - free post - operative period ensured that the patient did not have any breathing difficulties .
laryngomalacia is defined as severe collapse of the epiglottis and the arytenoids ( as seen by fibreoptic bronchoscopy ) in children with audible stridor .
congenital laryngomalacia presents in the neonatal period with stridor , that is high pitched in nature and inspiratory in timing and is aggravated when the child is upset or when the child hyperventilates . in more severe forms , upper airway obstruction , cyanotic spells , feeding difficulties , failure to thrive ,
the definitive diagnosis is made by suspension laryngoscopy and direct visualization of the larynx as it collapses during the inspiratory phase of spontaneous ventilation .
osteogenesis imperfecta , also known as the brittle bone disease , is a genetic disorder caused due to the faulty formation of collagen type 1 .
the disease may cause cardiac valvular lesions , cor pulmonale , neurologic abnormalities , hyperhydrosis , cleft palate , metabolic abnormalities , malignant hyperthermia , obstructive uropathy and platelet dysfunction.[34 ] mild cases of laryngomalacia may require only history , clinical examination , complete blood count and electrolytes , with lateral neck and chest x - rays .
an electrocardiogram ( ecg ) may be ordered if there are signs of cor pulmonale .
barium studies , chest ct scan and angiography are reserved for those cases where a cardiovascular anomaly is present .
premedication of patients with laryngomalacia is essential to prevent vagal responses and as an antisialogogue , sedation is to be used judiciously .
we opted for mild sedation to prevent the child from crying and hyperventilating as it would have worsened the stridor .
laryngomalacia may make mask ventilation a challenge as the airway may collapse when the muscle tone is lost following induction .
facial anomalies associated with osteogenesis imperfecta like retrognathia , combined with a large head , short neck and propensity to mandibular fractures make mask ventilation difficult .
the intubation of patients with laryngomalacia is difficult due to the large lax overhanging epiglottis .
facial anomalies , risk of mandibular fractures , injury to teeth and high chances of cervical vertebrae injury associated with osteogenesis imperfecta make direct laryngoscopy and intubation difficult . intubation with a paediatric fibreoptic bronchoscope would be the method of choice in these cases .
the use of a laryngeal mask airway ( lma ) in a case of laryngomalacia has a higher failure rate and it may not be able to protect the airway against reflux that is commonly seen in these patients .
patients with osteogenesis imperfecta have a higher propensity to malignant hyperthermia as compared to the general population , but the incidence is low . in anticipation of a difficult airway , we proceeded with the use of sevoflurane with temperature and etco2 monitors in place .
total intravenous anaesthesia would be the method of choice in cases where a difficult airway has been ruled out .
other than triggering malignant hyperthermia in susceptible patients , succinylcholine - induced fasciculations can cause fractures and neck hyperextension leading to atlanto - occipital dislocations .
also thyroid storms can occur intraoperatively , as 50% of the patients with osteogenesis imperfecta have increased levels of thyroxine .
patients should be positioned carefully , with adequate padding as fractures and dislocations are very common in osteogenesis imperfecta . in a patient given general anaesthesia , dislocations and fractures occurring intraoperatively may go unnoticed .
patients of osteogenesis imperfecta have a tendency for bleeds in spite of having a normal coagulation profile and bleeding time .
therefore , due precautions regarding any unexpected bleeding were taken in the form of availability of adequate blood , fresh frozen plasma and platelet concentrates .
regional anaesthesia is the method of choice for patients with osteogenesis imperfecta in view of all the difficulties enumerated above , but when combined with laryngomalacia , securing the airway gains prime importance .
when general anaesthesia is considered , meticulous attention is required with the use of neuromuscular blocking agents , inhalational agents , airway management , positioning of the patient and acute pain management .
 sometimes anaesthesiologists come across rare congenital anomalies in their practice . 
 the inherent complications associated with the disorder necessitate tailor - made approaches for providing anaesthesia to even seemingly simple surgical interventions . here 
 , we share our experience of anaesthesia management of an infant with congenital laryngomalacia and recently diagnosed osteogenesis imperfecta type 1 who had presented to us with an acute abdomen for a semi - emergency herniotomy . 
INTRODUCTION
CASE REPORT
DISCUSSION