Expect the Unexpected - Peri-Operative Challenges for the Anesthesia Team During Management of Kenny- Caffey Syndrome - A Case Report

Dr Sony Baby M.D¹, Dr Rajendra P Koduri M.D²*, Dr Maged M Raafat Ahmed PhD³, Ossama AR. Al Hawamdah⁴

1. Specialist, Department of Anesthesia & Pain Therapy - SSMC Mayo Hospitals, AbudhabI, UAE.

2. Specialist, Department of Anesthesia & Pain Therapy - SSMC Mayo Hospitals, AbudhabI, UAE.

3. Consultant & former Chair, Department of Anesthesia & Pain Therapy - SSMC Mayo Hospitals, AbudhabI, UAE.

4. Senior Anesthesia Technologist, Department of Anesthesia & Pain Therapy - SSMC Mayo Hospitals, AbudhabI, UAE.

*Correspondence to: Dr Rajendra P Koduri M.D, Specialist, Department of Anesthesia & Pain Therapy - SSMC Mayo Hospitals, AbudhabI, UAE.

Copyright

© 2023 : Dr Rajendra P Koduri M.D. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Received: 14 July 2023

Published: 01 August 2023

Abstract

Kenny - Caffey syndrome  is a extremely rare syndrome . The total number of documented cases in the world are less than 100 patients with 60 patients living in the MENA region ( Middle East North Africa)  & the rest related to Middle eastern origin. These patients present unique challenges to the medical profession including altered growth patterns with fragile body habitus , endocrine disorders , severe hypocalcemia &  mental retardation.Regular outpatient visit reasons include micrognathia with dental caries  as is  microopthalmia with hypermetropia. We present a case report & the challenges faced by the Anesthesia team in a  21 year female patient coming for urgent Laparotomy with a diagnosis of bowel obstruction( sigmoid volvulus)

Keywords: HME- humidifier & moisture exchanger, OPD- outpatient department

PE - phenyl ephrine , MAC - minimum alveolar concentration, PRBC- packed red blood cells , FFP - fresh frozen plasma, MDT- muti disciplinary team.

Introduction
The condition was originally described by Frederic Kenny and Louis Linarelli  in 1966 .  In 1967, John Caffey, a pediatric radiologist, described the detailed radio-graphic findings of various bones in the same family. The condition was  called the Kenny-Caffey Syndrome.  A somewhat similar, but recessively inherited condition known as Kenny-Caffey Syndrome Type 1 (KCS1) also exists. This recessive condition includes intellectual disability as a common symptom, and is also known as the Sanjad-Sakati syndrome or Hypoparathyroidism-Retardation-Dysmorphism Syndrome which is the common variant in the MENA region. The total number of patients in the UAE is unknown there are occasional inter hospital reports of KCS( Type 1) patient visits mostly from the same family in our Health system database.

The Case Report

A 21 year female patient was posted for urgent laparotomy with a possible colostomy . A diagnosis of large  bowel obstruction as per the medical history, clinical signs & symptoms and a CT scan. The electronic records of the hospital showed this  a first visit to our tertiary care centre & the recorded weight of the patient was 10.5 kgs.  Since the patient had mental retardation all history was obtained from the parents of the patient.

On examination: - the patient presented with microcephaly & webbed neck with irregular dentition, small body habitus & deranged lab values & the records from the previous hospital showed regular opd visits for dental caries. There was no previous history of any surgery or any anesthesia record for any diagnostic procedure. Laboratory investigations showed moderate anemia 8 gm/dl & normal platelet count with severe hypocalcemia 2.6 mg/dl& serum potassium values of 2.95 mmol/l. The ECG showed severe tachycardia & recorded vitals showed BP 105/75 mm HG with HR of 140 bpm.  Due to pain & mental retardation the patient was restrained in the ward. A quick auscultation of the heart showed regular heart sounds & no cardiac murmur was detected. Airway was presumed as Mallampatti 4 in view of microcephaly & lack of cooperation from the patient. Medical treatment from childhood included Parathormone injections. Vitamin  D3   & calcium supplementation.Since it was a rare case an urgent  multidisciplinary treatment approach was planned via video conference & all stake holders involved (surgical team - anesthesia team & nursing teams from  both the Operating room and surgical icu)   had a quick discussion  about possible outcomes & a plan was made regarding the Peri-operative journey of the patient in our Hospital.

Findings: Significant colonic distension with faeces and fluid in the large bowel with the marked  distension of the sigmoid colon with an apparent kink of the distal sigmoid colon and even though it is an unusual pattern, appearances favour a distal sigmoid volvulus

Challenges faced by Anesthesia team during the Peri-operative period.

This 21 year patient ( adult by age ) is only 10.5 kgs ( pediatric <20 kgs) with extreme hypocalcemia.

1- Urgent correction of serum calcium from the existing 2.6 mg/dl to 7 mg/dl.

2- Change of adult  operating table to pediatric table

3- Change of adult circuits to pediatric circuits

4- Change of adult HME to pediatric HME on the anesthesia circuits

5- Change of ventilator status from adult to pediatric mode

6- Under body warmers as in the pediatric patient  ( although the patient by age is an adult ) to prevent hypothermia &  increase in ambient temp of the o.t.

7- Airway challenges --proper sized mask & keep the difficult airway trolley ready including video-laryngoscopes.

8- Restrain the patient as in the ward & adequate padding of all pressure points to prevent iatrogenic fractures during induction.

9- Proper weight settings on the syringe pumps for the ionotropes.

10- Setting up Ultrasound in the room for introduction of invasive lines ( arterial / cvp line ) for monitoring of acid base balance -& monitoring serum calcium.

11- Surgical team should include a ENT consultant  for emergency tracheostomy if necessary &  a pediatric surgeon to handle the undersized organs.

12-  Resuscitation of patient using 5% albumin rather than crystalloid to maintain vitals within normal limits.

Peri-operative course:

Surgical team had estimated the course of surgery for 2-3 hours which included Lapartotomy with possible colostomy. The patient was received in the holding bay   & received 150 mg iv calcium gluconate infusion in 30 minutes

Serum calcium improved to 7 mmol with calcium gluconate infusions under ECG monitoring. The preoperative S. Potassium was 2.97 & the inverse relationship of potassium & calcium levels was considered before more calcium gluconate infusion.   Since the patient was used to lower levels of Serum  calcium we used the lower end o f the normal range for correction. Serum albumin levels were noted at 2.9 g /dl. Adequate hydration with dextrose saline @ 50 ml/hr was instituted in the ward. Necessary blood & blood products were crossmatched for the surgery.

 In the ot Ketamine 10 mg iv was given to facilitate attachment of regular monitors to this uncoperative patient. (EKG, NIBP & Pulsoximeter)

Standard induction with rapid sequence intubation using propofol 2mg/kg   fentanyl 1 mic/kg  & rocuronium 1mg/kg  was planned   Cricoid pressure was used to prevent regurgitation of stomach contents in this case of intestinal obstruction. Videolaryngoscopes were difficult to introduce because of adult dentition in a micrognathia situation. Classic Mc coy laryngoscopy with size 1 blade was used & size 5 cuffed oral endotracheal tube was introduced with difficulty (irregular dentition & micrognathia) by the 2 nd attempt. A 8 FG nasogastric tube was introduced after induction& all gastric contents were aspirated.

During induction 10 micrograms of phenylephrine were given prophylactically to prevent induction induced hypotension. Maintenance drugs of fentanyl & relaxant were weight based in this case.

Positioning for invasive lines in this fragile patient was very difficult & ultrasound guided introduction of invasive lines included right subclavian line & left arterial line for Peri-operative monitoring of acid base balance & serum electrolytes. Induction induced hypotension was treated with PE infusions. The patient was ventilated with 40 % oxygen / Air with sevoflurane titrated to 1.2 MAC. Vitals were maintained through out with necessary colloid infusions 5% albumin & PE infusions. Hypokalemia was corrected to 3.5 mmol to prevent dangerous arrhythmia. Serum glucose & body temperature were maintained at normal levels. One unit of warmed PRBC & 1 unit of FFP was transfused during the Peri-operative period.

Surgeons were gently reminded about fragility of the patient & gentle movements during surgical retraction of abdomen was done.  Surgery (laparotomy with ileocolic anastomosis) proceeded uneventfully  the patient was shifted to the SICU for post operative elective ventilation .

Post op course: In the SICU elective  ventilation was commenced as per MDT plan for the first operative day with maintainence of vitals using nor epinephrine infusions ( dose as necessary ) & sedo-anlagesia using fentanyl/ Ketamine infusions. The patient was weaned away from the ventilator by 24 hrs of admission & extubated . Monitoring in the SICU proceeded along with regular lab investigations & the patient was shifted to the ward on the 4 th post operative day.

Conclusion

 Kenny Caffey is a very rare syndrome but not exclusive to the MENA region. Anesthesia teams may face this patients once in a life time .Apart from opd visits we do not have any published literature regarding the Peri-operative challenges faced by the anesthesiologists & this is the first such instance. Proper preoperative evaluation of the patient with focus on correcting deranged  lab values, liver function tests ( especially serum albumin )  &quick securing of  airway will prevent crisis situations. Proper planning & discussion with MDT approach is so important for successful outcome.

References

1. Kenny, F.M., and Linarelli, L. (1966). Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son. Am. J. Dis. Child. 111, 201–207

2. Parvari, R., Hershkovitz, E., Grossman, N., Gorodischer, R., Loeys, B., Zecic, A., Mortier, G., Gregory, S., Sharony, R., Kambouris, M., Sakati, N., Meyer, B. F., and 10 others. Mutation of TBCE causes hyperparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nature Genet. 32: 448-452, 2002. ]

3. Kotb Abbass Metwalley and Hekma Saad Farghaly  Indian J Endocrinol Metab. 2012 Sep-Oct; 16(5): 827–829.-Kenny-Caffey syndrome type 1 in an Egyptian girl

4. Tony El Jabbour, Tarek Aboursheid, Mohammad Baraa Keifo et al in Avicenna  - J Med. 2014 Jul-Sep; 4(3): 74–76.99 ( Pubmed)  Kenny-Caffey syndrome  type 1 a case report
5. Kenny-Caffey syndrome: an Arab variant? Sabry MA, Farag TI, Shaltout AA, Zaki M, Al-Mazidi Z, Abulhassan et al in Clin Genet. 1999 Jan;55(1):44-9. doi: 10.1034/j.1399-0004.1999.550108.x.