| Ellis-van Creveld syndrome (chondroectodermal dysplasia):
Ectodermal defects, skeletal anomalies. 50% have congenital heart
disease, usually septal. Anesthetic implications: Chest wall anomalies
lead to poor lung function. Assess cardiopulmonary function
carefully. May have abnormal maxilla and upper lip, hepatosplenomegaly. Possible
difficult intubation. SBE prophylaxis where indicated.
Eosinophilic granuloma, see Histiocytosis
X.
Epidermolysis bullosa (Herlitz syndrome): Skin cleavage
at dermal-epidermal junction, resulting in erosions and blisters
from minor trauma to skin or mucous membrane. The disease occurs
in several forms. Epidermolysis bullosa simplex is relatively
mild with rapid healing and little scarring. Junctional epidermolysis
bullosa (letalis) is severe, presents at birth, leads to extensive
scarring and death (often from sepsis) usually by age 2 yr. Dystrophic
epidermolysis bullosa is very rare but severe; lesions heal slowly
with extensive scarring. Strictures may form and involve the pharynx,
larynx and esophagus. Digital fusion occurs ('mitten-hand').
Nutritional deprivation leads to growth retardation and anemia.
Infections are common. Anesthetic implications: Antibiotic prophylaxis
preoperatively. Check history for steroid therapy. Use sterile
technique (reverse isolation). Possible airway difficulty due
to oral lesions, adhesion of tongue. Avoid trauma to skin or mucous
membranes. Avoid intubation and/or instrumentation of the airway
if possible. Regional analgesia may be considered. If intubation
is indicated, lubricate tube and laryngoscope generously. Use
insufflation or a well-padded lubricated mask for inhalation anesthesia
or use ketamine. Do not use adhesive tape.
Erythema multiforme, see Stevens-Johnson
syndrome.
Fabry’s disease: X-linked lipid storage
disease. Lipid deposition in blood vessels causes periodic very
severe pain and fever crises. Dark telangiectasia, particularly
around genitals and buttocks; hypertension, myocardial ischemia,
renal failure. Anesthetic implications: CVS - hypertension, myocardial
ischemia (before third to fourth decade). Renal failure - care
with renally excreted drugs.
Familial
dysautonomia, see Riley-Day syndrome.
Familial osteodysplasia,
see Anderson's syndrome.
Familial periodic paralysis: Periodic
muscle weakness secondary to serum K+ disturbance (hypo- or hyperkalemia).
Muscle weakness in the hypokalemic variety is due to massive uptake
of K into muscles and thus decreased serum K. Anesthetic
implications: Monitor serum K+. Limit use of dextrose.
Prevent hyper- or hypoglycemia. Monitor ECG. Avoid relaxants.
Maintain body temperature.
Fanconi syndrome (renal tubular acidosis):
Usually secondary to other disease (e.g. cystinosis, galactosemia).
Proximal tubular defect. Acidosis, K+ loss, dehydration. Anesthetic
implications: Impaired renal function. Treat electrolyte and acid-base
abnormalities. Be aware of other metabolic defects.
Farber’s disease (lipogranulomatosis):
Sphingomyelin deposition. Widespread visceral lipogranulomas,
especially in the central nervous system. Anesthetic implications:
Deposits in larynx - careful intubation. Generalized systemic
involvement leading to cardiac, renal failure.
Favism (G6PD deficiency): Hemolytic anemia,
spontaneous, infection- or drug-induced. Anesthetic implications:
Possible hemolysis following oxidant drugs (e.g. aspirin,
phenacetin, sulfonamides, quinidine, methylene blue, prilocaine,
vitamin K, nitroprusside). Anemia - transfuse if necessary.
Fetal alcohol syndrome: Abnormalities of the infant due
to maternal heavy alcohol consumption. Growth retardation, intellectual
impairment, craniofacial abnormalities (microcephaly, microphthalmia,
hypoplastic upper lip, flat maxilla), cardiac defects (especially
VSD), renal abnormalities, inguinal hernia. Anesthetic implications:
SBE antibiotic prophylaxis where indicated. Possible difficult
intubation. Problems of associated cardiac disease.
Focal dermal hypoplasia (Goltz's syndrome): Multifarious
features, including multiple papillomas of mucous membranes, skin.
Anesthetic implications: Airway may contain papillomas.
Forbes disease, see von Gierke's
disease.
Freeman-Sheldon (whistling face) syndrome: Congenital
myopathy and dysplasia. Increased tone and fibrosis of facial
muscles. Hypertelorism, microstomia and micrognathia. Myopathy
leads to flexion contractures of limbs. Strabismus and inguinal
hernia common. Later, kyphoscoliosis may lead to restrictive lung
disease. Anesthetic implications: Intubation may be very difficult,
tight facial muscles will not relax with neuromuscular blockade.
IV access limited by limb flexion contractures and/or splints.
Pulmonary function may be impaired (late). Regional analgesia
may be useful for postoperative pain.
Friedreich’s ataxia: Degeneration of
cerebellum, lateral and posterior column of spinal cord. Scoliosis.
Myocardial degeneration and fibrosis. Anesthetic implications:
Heart failure and arrhythmias. Care with cardiac depressant drugs.
Gangliosidosis: GM1, type 1: Acute onset in infancy. Rapid
neurologic decline, severe bone abnormalities, pulmonary infiltration
common. Death by 2 yr. GM1, type 2: Onset in early childhood.
Few somatic changes. Death from cardiopulmonary causes by 10 yr.
GM2
(Tay-Sachs disease, Sandhoff's disease): Onset in infancy.
Progressive psychomotor deterioration, blindness, seizures. Death
by 5 yr (by 2 yr in most cases). Rare juvenile variants - same
features, longer survival. Anesthetic implications: Progressive
neurologic loss leads to respiratory complications.
Gardner’s syndrome: Multiple polyposis,
bony tumors, sebaceous cysts, fibromas. Anesthetic implications:
No anesthetic problems described.
Gaucher disease: Cerebroside accumulation in CNS, liver,
spleen and more. Serum acid phosphatase increased. Pulmonary disease
from aspiration (pseudobulbar palsy). Hepatosplenomegaly. Hypersplenism
may cause platelet deficiency. Usually fatal in infancy if neurologic
signs are obvious. Bone pain and fractures in more chronic form.
Anesthetic implications: Treat coagulation disorders and correct
anemia. |