Bourneville, tuberous sclerosis or syndrome

Prevalence: 1/6,000 to 1/30.000. Phakomatosis. Autosomal dominant transmission (but sporadic mutation in 2/3 of cases) with high penetrance and variable expressivity, resulting in the development of benign tumors in many organs with cutaneous, cardiac, cerebral, renal and pulmonary manifestations. In 80 % of cases, there is a mutation of the TSC1 gene (9q34 loci) coding for hamartin or of the TSC2 (16p13.3 loci) gene coding for tuberin. Hamartin and tuberin are found in all cells where they form a dimer that regulates cellular growth and  proliferation by inhibiting mTOR complex (mammalian Target ORapamycin, an enzyme of the family of serine/threonine kinases regulating cell proliferation); the lack of tuberin maintains mTOR in a state of permanent activation. 


Clinic presentation:

-         epilepsy (West syndrome) in 90 % of cases; if resistant to treatment: ketogenic diet

-         cognitive or behavior disorders (autism) in 50-60 % of cases

-         skin: sebaceous adenomas and  hypopigmented spots on the face. Hypopigmented spots looking like sorb leaves  (N > 3) at the lumbar level, angiofibromas on the scalp and the tongue, Koenen tumors, retinal hamartomas

-         renal pathology (80 %): angiomyolipomas or renal cysts.

-         brain:  multiple sub-ependymal or  cortical nodules

-         heart: cardiac rhabdomyomas in the neonatal period, generally asymptomatic

-         lungs: lymphangiomyomatosis [= abnormal proliferation of smooth muscle cells] (only in females) sometimes pulmonary cysts.


Risk of pheochromocytoma.

Treatment: treatment trials using sirolimus or evrolimus (mTOR inhibitors) are underway.


Anesthetic implications: 

Epilepsy. Difficult intubation in case of oro-pharyngeal or facial angiofibromas. Echocardiography. Assess  the renal function. Chest X-ray. Careful measurement of BP. 


preoperative
period

-        take advice from the neuropediatrician: efficacy of the diet, which treatment in case of seizure, side effects (urinary lithiases ?)

-        evaluation: RBC, WC, platelets, electrolytes, urea, creatinine, Ca, Mg, albumin and prealbumin (nutrition). SGOT and SGPT levels are often moderately elevated

-        avoid prolonged fasting: clear unsweetened fluids allowed

-        avoid sweetened fluids in the premedication

-        avoid IV administration of carbohydrates containing IV fluids

-        check glycemia at induction: ideally 50-80 mg/dL


anesthesia

-        propofol: OK for induction but avoid TIVA: source of glycerol, risk of PRIS and pancreatitis

-        fluids: 0.9 % NaCl (risk of worsening metabolic acidosis) or Ringer lactate (but lactate promotes gluconeogenesis)

-        avoid corticosteroids: dexamethasone?

-        avoid carbohydrate-containing medications (glucose, mannitol, glycerol) if possible

-        the transfusion of labile blood products is a hidden intake of carbohydrates

-        in case of hypoglycemia, correct with low doses of glucose (0.25g/kg)

-        monitor glycemia, pH, electrolytes, NaHCO3


postoperative

-        resume the ketogenic diet as soon as possible

-        check ketone bodies (urine): between 40 and 160 mg/dL or at least 2 ++


Ketogenic diet: perianesthetic recommendations


References : 

-         Lee JJ, Imrie M, Taylor V. 
Anaesthesia and tuberous sclerosis. 
Br J Anaesth 1994 ; 73 : 421-5.

-                Schweiger JW, Schwartz RE, Stayer SA. 
The  anaesthetic management of the patient with tuberous sclerosis complex. 
Paediatr Anaesth 1994; 4: 339-42.

-                Shenkman Z, Rockoff MA, Eldredge EA, Korf BR, Black PM, Soriano SG. 
Anaesthetic management of children with tuberous sclerosis. 
Pediatr Anesth 2002 ; 12 : 700-4. 

-        Conover ZR, Talai A, Klockau KS, Ing RJ, Chaterjee D.
Perioperative management of children on ketogenic dietary therapies.
Anesth Analg 2020 ; 131 :1872-82.


Updated: November 2020