Desc: “Obesity, blindness by’7 years: hearing loss; diabetes after puberty, glomerulo sclerosis” Anesth: Renal impairment: manaocinent ot’diabetes and obesity …
Adrenogenital syndrome
Desc: Inability to synthesize hydrocortisone and possibly aldosterone;
virilization of female
Anesth: All need hydrocortisone even if not salt losing: check electrolytes
Albers-Schonberg disease marble bone disease or osteopetrosis
Desc: Brittle bones pathologic fractures
Anesth: Anemia from marrow sclerosis: hepatosplenomegaly: care in
positioning and restraint limited joint mobility
Albright-Butler syndrome
Desc: Renal tubular acidosis: hypokalemia; renal calculi
Anesth: Correct electrolytes to within normal limits-, renal impairment
Albrights osteodystrophy pseudohypoparathyroidism
Desc: Ectopic bone fori-natim mental retardation
Anesth: Hypocalcemiapossible ECG conduction defects, neuromuscular
problems, convulsions
Alports syndrome
Desc: Progressive renal failure: nerve deafness: ocular abnormalities
Anesth: Renal failure in second to third decade: care with renally excreted
drugs
Alstrom syndrome
Desc: Obesity, blindness by7 years: hearing loss; diabetes after puberty,
glomerulo sclerosis
Anesth: Renal impairment: manaocinent otdiabetes and obesity
Amyotonia congenita infantile muscular atrophy
Desc: Anterior horn cell degeneration
Anesth:
Sensitive to thiopental reduced muscle mass and respiratory
depressants care with muscle relaxants
Amyotropic lateral sclerosis
Desc: Degeneration of motor neurons
Anesth: Avoid succinylcholine: possible potassium release and cardiac
arrest; minimal thiopental and curate; avoid respiratory depressants
Analbuminemia
Desc: Almost absent albumin 4100 mg/dI
Anesth: Very sensitive to protein-bound drugs
Andersens disease glycogen storage disease type IV
Desc: Debranching enzyme deficiency
Anesth: Possibility of hypoglycemia during anesthesia
Aperts syndrome acrocephalosyndactyly
Desc: Craniosynososis
Anesth: Syndactyly of hands; difficult intubation: possibly raised
intracranial pressure associated congenital heart disease
Arthrogryposis multiplex
Desc: Multiple congenital contractures-, stiffness of joints associated
with hypoplasia of attached muscles
Anesth: Ten percent have congenital heart disease: possible airway problem
Asplenia syndrome
Desc: Absent spleen, bilateral visceral rightsidedness
Anesth: Very complex cardiovascular anomalies, present with cyanosis and
heart failure
Ataxia-telangiectasia
Desc: Cerebellar ataxia; skin and conjunctival telangiectasia;
decreased
serum IgA and IgE; 10 develop reticuloendothelial malignancy
Anesth: Defective immunity-recurrent chest and sinus infections;
bronchiectasis; aseptic techniques
Beckwith-Wiedman syndrome Exophthalmos, macroglossia, gigantism
Desc: Birth weight 4000 g; macroglossia and exomphalos; polycythemia
visceromegaly in infants
Anesth: In older children, associated with hepatocellular cancer;
persistent severe neonatal hypoglycemia; airway problems
Blackfan-Diamond anemia syndrome
Desc: Congenital idiopathic red cell aplasia
Anesth: Liver and spleen enlarged; hypersplenism thrombocytopenia; steroid
therapy required
Bowens syndrome cerebrohepatorenal syndrome
Desc: Hypotonia, hepatomegaly, and neonatal jaundice; polycystic kidneys;
associated congenital heart disease
Anesth: Hypoprothrombinemia; care with renally excreted drugs and muscle
relaxants
Carpenters syndrome
Desc: Obesity; cranial synostosis; associated congenital heart disease;
mental retardation; peculiar facies; syndactyly of fingers and toes
Anesth: Hypoplastic mandible; possibly difficult intubation
Central core disease
Desc: Muscular dystrophy
Anesth: See Amyotonia congenita
CHARGE association
Desc: Coloboma,
Heart disease, Atresia choanae, Retarded growth, Genital
anomalies, and Ear anomalies Tetralogy of fallot, VSD, ASD, ASVD;
micrognathia
Anesth: Respiratory distress choanal atresia; difficult airway; possible
difficult intubation Congenital heart disease
Chediak-Higashi syndrome
Desc: Partial albinism immunodeficiency; hepatosplenornegaly
Anesth: Steroid therapy; recurrent chest infection; thrombocytopenia-may
require platelets
Cherubism
Desc: Tumorous lesion of mandibles and maxil lae with intraoral masses; may
cause respiratory distress
Anesth: Intubation may be extremely difficult; may require tracheostomy
for acute respiratory distress, profuse bleeding at surgery
Chotzens syndrome
Desc: Craniosynostosis
Anesth: May be difficult intubation: associated renal anomalies and
possible impaired renal excretion of drugs
Christ-SiemensToumine syndrome anhidrotic ectodermal dysplasia
Desc: Absent sweating, heat intolerance
Anesth: Cannot control temperature by sweating: persistent upper
respiratory and chest infection caused by poor mucus formation
Chronic granulomatous disease
Desc: Inherited disorder of leukocyte function: recurrent infections with
nonpathogenic
organisms
Anesth: Hepatomegaly in 95 poor pulmonary function; avoid intection-
strict asepsis
Collagen disease: dermatomyositis, rheumatoid arthritis, systemic lupus
erythematosus polyarteritis nodosa
Desc: Systemic connective diseases frequently treated with steroids;
oteoporosis and fatty infiltration of muscle: variable systemic
involvement
Anesth: Often have pulmonary infiltration or fibrosis may have
temporoniandibular or cricoarytenoid ar1hritis causing airway and
intubation difficulties: anemia common; risk of fat embolism after
osteotomy, fracture or minor traurna; renal involvement common, potential
addisonian crises
Conrads syndrome
Desc: Chondrodystrophy with contractures saddle nose, mental retardation;
associated congenital heart disease and renal anomalies
Anesth: Problems are those of associated renal and cardiac disease
Cretinism congenital hypothyroidism
Desc: Absent thyroid tissue or defective synthe sis thyroxine and goiter
Anesth: Airway problems-large tongue, goiter; respiratory center very
sensitive to depressants; carbon dioxide retention common; hypoglycemia,
hyponatremia, hypotension; low cardiac output: transfusion poorly
tolerated
Cri du chat
syndrome cats cry syndrome
Desc: Chromosome 5-P abnormal, abnormal cry, microcephaly micrognathia;
congenital heart disease; hypertelorism exophthalmos; catlike cry
Anesth: Airway problems-stridor, laryngomalacia; possibly difficult
intubation
Crouzons disease
Desc: Exophthalmos, hypertelorism; craniosynostosis-, hypoplastic
mandible
Anesth: Possibly difficult intubation severe blood loss with craniofacial
operation
Cutis laxa
Desc: Elastic fiber degeneration, pendulous skin, frequent hernias;
emphysema and cor pulmonale; arterial fragility
Anesth: Pulmonary infection, emphysema, and cor pulmonale; poor tissues-IV
carmula difficult to maintain; excess of soft tissues around larynx may
lead to respiratory obstruction
Cystic fibrosis
Desc: Multisystem involvement see Chapter 28
Anesth: / imbalance resulting in hypoxemia; bronchial secretions;
recurrent infection; cor pulmonale; liver abnormalities; malabsorption;
vitamin K deficiency; coagulopathy
DiGeorge syndrome third and fourth arch syndrome
Desc: Absent thymus and parathyroid glands; immune deficiency;
susceptibility to fungal and viral infections; treated by fetal thymic
transplants
Anesth: Recurrent chest infections;
hypoparathyroidism; low calcium, and
tetany; stridor; aortic arch abnormalities and reduced cardiac output;
donor blood must be irradiated with 3000 rad to prevent graft-versus-host
reaction
Down syndrome mongolism
Desc: Mental retardation; microcephaly; small nasopharynx: hypotonia: 60
have congenital heart disease: duodenal atresia in some; atlantoaxial
instability
Anesth: Difficult airway-large tongue: risk of airway obstruction; problems
of cardiac anomalies; risk of cervical cord injury
Duchenne type muscular dystrophy
Desc: Muscular dystrophy with frequent cardiac muscle involvement; usually
die in second decade
Anesth: As for amyotonia congenita plus cardiac involvement; minimal drug
dosage: avoid respiratory depressants, muscle relaxants; postoperative
ventilation may be required; risk of malignant hypertension?
Succinylcholine contraindication?
Edwards syndrome trisomy 18 [E]
Desc: Congenital heart disease in 95: micrognathia in 80; renal
malformations 50 to 80; usually die in infancy
Anesth: Possible difficult intubation; care with renally excreted drugs
Ehlers-Danlos syndrome cutis hyperelastica
Desc: Collagen abnormality with hyperelasticity and fragile
tissues;
dissecting aneurysm of aorta: fragility of other blood ves sels bleeding
diathesis
Anesth: Cardiovascular system: spontaneous rupture of vessels: angiogram
1 mortality: ECG conduction abnormalities: IV cannula difficult to
maintainhematoma: poor tissues and clotting defect lead to hemorrhage,
especially of GI tract; spontaneous pnellinothorax
Ellis-van Creveld syndrome chondroectodermal dysplasia
Desc: Ectodermal defects skeletal anomalies: 50, have congenital heart
disease
Anesth: Chest wall anomalies lead to poor lung function: rnay have
abnormal maxilla and upper lip, hepatosplenomegaly
Epidermolysis bullosa
Desc: Erosions and blisters from minor skin trauma
Anesth: Airway-oral lesions adhesion 01 tongue; ketamine is recommended
or use Small oral tube to avoid laryngeal trauma; avoid skin trauma from
tapes; history of steroid therapy: check for porphyria similar skin
lesions
Fabrys disease diffuse angiokeratoma
Desc: Lysosomal storage disease; corneal opacitics, card iopu lmonary
involvement: renal failure
Anesth: Hypertension, myocardial ischemia before third or fourth decade:
renal failure-care with renally excreted drugs
Familial periodic paralysis
Desc: Muscle
disease; hypokalemia, attacks of quadriplegia
Anesth: Monitor serum potassium ion: limit use of dextrose: monitor ECG:
avoid relaxants
Fanconis syndrome renal tubular acidosis
Desc: Usually secondary to other disease proximal tubular defect:
acidosis potassium ion loss, dehydration
Anesth: Impaired renal function: treat electrolyte and acid-base
abnormalities look for primary disease galactosemia cystinosis, etc
Farbers disease lipogranulomatosis
Desc: Sphingomyelin deposition, widespread visceral lipogranulomas
especially in the central nervous system
Anesth: Deposits in larynx-careful intubation: generalized systemic
involvement leading to cardiac, renal failure
Favism
Desc: G-6-PD deficiency; hemolytic anemia
Anesth: Hemolysis after oxidant drugs such as ASA and sulfa drugs
Friedreichs ataxia
Desc: Degeneration of cerebellum, lateral and posterior column of spinal
cord: scoliosis: myocardial degeneration and fibrosis
Anesth: Heart failure and arrhythmias; care with cardiac depressant drugs
Gauchers disease
Desc: Cerebroside accumulation in CNS, liver spleen etc
Anesth: Pulmonary disease from aspiration pseudobulbar palsy:
hepatosplenomegaly, hypersplenism; may cause
platelet deficiency
Glanzmanns disease thrombasthenia
Desc: Platelet adenosine diphosphate reducedabnormal function
Anesth: No specific therapy for bleeding: platelet transfusion
disappointing: history of steroids
Goldenhars syndrome oculoauriculovertebral dysplasia
Desc: Unilateral facial hypoplasia; congenital heart disease in 20; 60
mandibular hypoplasia
Anesth: Difficult airway and intubation; problems of associated cardiac
disease
Gorlin-Goltz syndrome focal dermal hypoplasia
Desc: Hernias, prolapse, etc; congenital heart disease: renal anomalies
Anesth: Asymmetry of head-difficult airway
GroenbladStrandberg pseudoxanthoma elasticum
Desc: Degeneration elastic tissue in skin, eye, and cardiovascular
system
Anesth: Rupture of arteries, especially GI tract, hypertension, arterial
calcification: occlusion cerebral, coronary arteries: difficult
maintenance of IV cannula
Guillain-Barre syndrome acute idiopathic polyneuritis
Desc: Acute polyneuropathy; progressive pe ripheral neuritis often
involving cranial nerves; bulbar palsy with hypoventilation and hypotension
Anesth: Avoid succinylcholine for potassium ion release; may require
tracheostomy mechanical ventilation
support of blood pressure
Hand-SchullerChristian disease histiocytosis X
Desc: Histiocytic granulomas in bones and viscera-larynx, lungs, liver
and spleen
Anesth: Laryngeal fibrosis: pulmonary–diffuse or hilar infiltration;
respiratory failure cor pulmonale; hypersplenism and pancvtopenia: liver
involvement; diabetes insipidus it sella turcica involved: history of
steroids: benign intracranial hypertension: loose teeth
Hermansky-Pudlak syndrome
Desc: Albinism bleeding diathesis
Anesth: Platelet abnorniality: try platelet transfusion: no specific
treatment
Holt-Orarn syndrome heart-hand syndrome
Desc: Upper limb abnormalities; congenital heart disease-atrial septal
defect possibly sudden death from pulmonary embolus, coronary occlusion
Anesth: Problems of cardiac defect
Homocystinuria
Desc: Inborn error of metabolism: thromboembolic phenomena caused by
intimal thickening: ectopia lentis, osteoporosis, kyphoscoliosis
Anesth: Dextran-70 to reduce viscosity and platelet adhesiveness, increase
peripheral perfusion; angiography may precipitate thrombosis
Hunters syndrome mucopolysaccharidosis II
Desc: Stiff joints, dwarfing hepatosplenomegaly; pectus excavatum
and
kyphoscoliosis: valvular Mid coronary heart disease
Anesth: Upper airway obstruction caused by infil tration of lymphoid tissue
and larynx ; pneumonias; possible hypersplenism cardiac failure
Hurler syndrome mucopolysaccharidosis I
Desc: Pulmonary hypertension; usually lie before age 10 years from
respiratory and cardiac failure
Anesth: AS for Hunters but more severe: frequent upper respiratory
infection: abnormal tracheohronchial cartilages; severe coronary artery
disease at early age, valvular and myocardial involvement
Jervell and Lange-Nietsen syndrome cardiac-auditory syndrome
Desc: Cardiac conduction defects: deafness
Anesth: Syncope, arrhythmias ECG-large T waves prolonged QT interval:
may need digoxin or propranolol or both or pacemaker
Jeunes syndrome asphyxiating thoracic dystrophy
Desc: Narrow immobile thorax; respiratory fail ure; nephritis
Anesth: Severe restrictive lung disease may require postoperative
ventilatory support
Kartageners syndrome immotile cilia syndrome
Desc: Situs inversus, immotile cilia, deficient mucociliary clearance,
sinusitis otitis media, chronic bronchitis
Anesth: Chronic respiratory and sinus infection
KasabachMerritt syndrome
Desc:
Hemangioma and thrombocytopenia; av erage age at death 5 weeks
Anesth: Hemangioma suddenly increases in size with associated severe
thrombocytopenia and hemorrhage: replace blood loss, transfuse platelets:
splcnectomy; steroids
Klippel-Feil syndrome
Desc: Congenital fusion of two or more cervical
Anesth: Difficult airway and intubation vertebrae leading to neck rigidity
Klippel-Trenaunay syndrome angioosteohypertrophy
Desc: Usually unilateral: arteriovenous fistulas thrombocytopenia
Anesth: Arteriovenous fistulas and anemia to high cardiac output state;
thrombocytopenia in visceral hemangiomas
Larsens syndrome
Desc: Multiple congenital dislocations; connective tissue defect: poor
cartilage in rib cage, epiglottis, arytenoids
Anesth: Possible difficult intubation; chronic respiratory problems
Laurence-Moon-Biedl syndrome
Desc: Obesity, retinitis pigmentosa; polydactyly; mental retardation
Anesth: May be associated with cardiac defects, renal disease, and
occasionally diabetes insipidus
Leopard syndrome
Desc: Multiple large freckles; congenital heart disease; ECG anomalies-
aberrant conduction; hypertelorism
Anesth: Ninety-five percent pulmonary stenosis
Leprechaunism
Desc:
Failure to thrive, endocrine disorders, severe mental retardation
Anesth: Hypoglycemia caused by hypeinsulinism from hyperplastic islet of
Langerhans; renal tubular defects-impaired renal function
Lesch-Nyhan syndrome
Desc: Hyperuricemia and mental retardation; renal failure by age 10 years
Anesth: High serum uric acid levels lead to red blood cell damage and renal
stones; care with renally excreted drugs
Letterer-Siwe disease histiocytosis X
Desc: Histiocytic granulomas in viscera and bones: clinical course similar
to acute leukemia
Anesth: Pancytopenia-anemia and purpura hemorrhage; pulmonary
infiltration; hepatic involvement; gingival inflammation and necrosis, loss
of teeth
Lipodystrophy total lipoatrophy
Desc: Generalized loss of all bodv fat; fatty, fibrotic liver; portal
hypertension and splenomegaly; nephropathy; diabetes
Anesth: Liver failure-avoid halothane and drugs metabolized by liver:
hypersplenismanemia and thrombocytopenia; possible renal failure; usual
diabetic precautions
Lowe syndrome oculocerebrorenal syndrome
Desc: Male only; cataract, glaucoma: mental retardation: hypotonia: renal
acidosis, proteinuria, osteoporosis, and rickets
Anesth: Check electrolyte
and acid-base balance: check serum calcium ion
treated with vitamin D and calcium ion; care with renally excreted drugs
Maffuccis syndrome
Desc: Enchondromatosis and hemangiomas with malignant change
Anesth: Pathologic fractures; GI bleeding from hemangiomas; orthostatic
hypotension may be sensitive to vasodilator drugs
Maple syrup urine disease branched chain ketonuria
Desc: Amino acid disturbance treated by diet only: severe neurologic damage
and respiratory disturbances
Anesth: General supportive measures
Marfans syndrome arachnodactyly
Desc: Connective tissue disorder: dilatation aor tic root leads to aortic
insufficiency: aortic, thoracic or abdominal aneurysm; pulmonary artery,
mitral valve involved; kyphoscoliosis Pectus excavaturn, lung cysts: joint
instability and dislocation
Anesth: Care with myocardial depressant drugs; beware possible dissection
of aorta; lung function poor: possible pneumothorax; care in
positioningeasily dislocated joints
MaroteauxLamy syndrome mucopolysaccharidosis IV
Desc: Myocardial involvement: kyphoscoliosis and chest infection;
hepatosplenomegaly
Anesth: Heart failure by age 20 years; care with cardiac depressant drugs;
chronic respiratory
infection with poor lung reserve; hypersplenism,
anemia, thrombocytopenia
McArdles disease
Desc: Glycogen storage disease type V
Anesth: Muscles affected including cardiac muscle: care with cardiac
depressant drugs
Meckels syndrome
Desc: Microcephaly, micrognathia, and cleft epiglottis: congenital heart
disease; renal dysplasia
Anesth: Intubation may be difficult; cardiac problems; renal failure in
infancy-care with renally excreted drugs
Median cleft face syndrome
Desc: Varying degrees of cleft face: frontal lipomas, dermoids
Anesth: Cleft nose, lip, and palate may cause intubation difficulties
Mobius syndrome congenital facial diplegia
Desc: Associated limb deformities, micrognathia: agenesis of cranial motor
nuclei
Anesth: Feeding difficulties and aspiration may cause chronic pulmonary
problems; may be difficult to intubate
Morquio-Ullrich syndrome mucopolysaccharidosis IV
Desc: Severe dwarfing; aortic incompetence: thoracic deformities: unstable
atlantoaxial joint
Anesth: Card iorespiratory symptoms by second decade; severe kyphoscoliosis
with poor lung function; all develop spinal cord damage from
atlantooccipital subluxation
Moschcowitz disease thrombotic
thrombocytopenic purpura
Desc: Hemolytic anemia and thrombocytopenia; small vessel disease;
neurologic damage and renal disease; treatment: splenectomy and steroids
Anesth: History of steroid therapy; care with renally excreted drugs if
kidneys affected
Myasthenia congenita
Desc: Like adult myasthenia gravis
Anesth: Avoid respiratory depressants, muscle relaxants; may require
postoperative ventilation; problems of anticholinesterase therapy
preoperatively and postoperatively; possibility of cholinergic crisis
Myositis ossificans fibrodysplasia ossificans
Desc: Bony infiltration of tendons, fascia, apo neuroses, and muscle
Anesth: Airway and intubation problems if neck rigid; thoracic involvement
leads to aspiration and asphyxia, lung pathology, and grossly reduced
thoracic compliance
Myotonia congenita Thomsens disease
Desc: Decreased ability to relax muscles after contraction; diffuse
hypertrophy of muscle
Anesth: Avoid relaxants and depressants as for myotonic dystrophy,
although this is a more benign disease, nonprogressive
Myotonic dystrophy myotonia dystrophica
Desc: Weakness and myotonia: ptosis, cataracts, partial baldness, and
gonadal atrophy; cardiac conduction
defects and arrhythmias; impaired
ventilation
Anesth: Avoid succinylcholine which causes myotonia in 50;
nondepolarizing drugs do not relax myotonia: neostigmine induces myotonia;
monitor ECG: extremely sensitive to respiratory depressants-use regional or
inhalation agents: halothane may cause postoperative shivering and
myotonia; pulmonary complications result from poor cough
Nager syndrome
Desc: Treacher-Collins like craniofacial deformity: radial limb defect;
dysplastic ear: cleft palate: occasional Tetralogy of Fallot
Anesth: Airway problems: difficult intubation
Niemann-Pick disease
Desc: Sphingomyelin and cholesterol accumulation in CNS, marrow, liver,
and spleen: diffuse infiltration of lungs: epilepsy ataxia, and mental
retardation
Anesth: Anemia and thrombocytopenia caused by marrow and spleen
involvement: pulmonary insufficiency pneumonia
Noacks syndrome
Desc: Craniosynostosis and digital anomalies: obesity
Anesth: May he difficult to intubate because of skull deformity
Noonans syndrome formerly called male Turners syndrome
Desc: Short stature, mental retardation congenital heart disease
micrognathia; hydronephrosis or hypoplasia of kidneys
Anesth: Usually pulmonary
stenosis or patent ductus arteriosus, tetralogy;
care with renally excreted drugs it kidneys affected
Olliers disease enchondromatosis
Desc: Multiple chondromas within bones, usu ally unilateral; pathologic
fractures
Anesth: With cavernous hemangioma is described as Maffuccis syndrome; care
with po sitioning
Orofaciodigital syndrome
Desc: Cleft lip and palate, lobed tongue: hypoplastic mandible and
maxilla: digital anomalies: hydrocephalus, polycystic kidneys
Anesth: Difficult airway and intubation; possible renal failure
Osler-Weber-Rendu disease hemorrhagic telangiectasia
Desc: No coagulation abnormalities: associated pulmonary arteriovenous
fistula
Anesth: Blood loss may be impossible to control: IV cannula may be
difficult to maintain because of poor tissues: recurrent chest infection:
dyspnea cyanosis, and clubbincan occur
Osteogenesis imperfecta fragilitas ossium
Desc: I Congenita-stillborn or rapidly fatal II Tarda-pathologic
fractures: osteoporosis leads to kyphoscoliosis
Anesth: Chest deformity leads to lung pathology; fragile vessels lead to
subcutaneous hemorrhage dentin deficiency causes carious and easily broken
teeth: extreme care in positioning
Paramyotonia
congenita Eulenburg disease
Desc: Myotonia on exposure to cold; paroxysmal weakness; serum potassium
ion levels may be high or low
Anesth: Anesthesia as for myotonic dystrophy; also care with potassium ion
level
Pataus syndrome trisomy 13
Desc: Mental retardation 100; microcephaly, micrognathia, or dextrocardia
or both: cleft lip or cleft palate: congenital heart disease; usually
fatal by 3 years
Anesth: Difficult intubation; usually ventricular septal defect
Pendreds syndrome
Desc: Deafness and goiter: incomplete block of thyroxine production
Anesth: May be euthyroid or hypothyroid: similar to cretinism
Pierre-Robin syndrome
Desc: Cleft palate, micrognathia, glossoptosis; associated congenital
heart disease may occur
Anesth: Newborn may asphyxiate: may require tongue suture, intubation, or
tracheostomy; may be very difficult to intubate; awake intubation
Polycystic kidneys
Desc: One third have associated cysts in liver, pancreas, spleen, lungs,
bladder, thyroid; cerebral aneurysm in 15
Anesth: Care with renally excreted drugs: beware lung cysts: may lead to
pneumothorax: avoid hypertension because of possible cerebral aneurysm
Polycystic liver
Desc: Familial-60 have
polycystic kidneys, lungs, and pancreas
Anesth: Usually liver function not impaired until late-fibrosis,
splenomegaly, esophageal varices, etc, possible renal fail-
Polysplenia
Desc: Bilateral visceral left-sidedness see also asplenia-converse
Anesth: Complex cardiac anomalies common: atrial septal defect and
endocardial cushion defects; usually not so complex as in asplenia
Pompes disease glycogen storage 11
Desc: Muscle deposits-severe hypotonicity; massive cardiomegaly; death
before age 2 years
Anesth: Extreme care, avoidance respiratory depressants, muscle relaxants,
cardiac depressants; large tongue may cause airway problem
Porphyria
Desc: Paralyses, psychiatric disorder; autonomic imbalance-hypertension,
tachycardia; abdominal pain precipitated by drugs, infections, etc
Anesth: Avoid barbiturates including thiopental sedatives meprobamate,
librium, glu pain tethimide, carbromal, hydroxydione steroid
anesthetic, nikethamide, hydantoin derivatives, sulfonamides,
antipyretics, hypoglycemic agents; no harmful effects expected with
opiates, phenothiazines, local anesthetics, N20, halothane, isoflurane,
muscle relaxants, atropine, neostigmine, pentolinium, and
corticosteroids
Prader-Willi syndrome
Desc: Neonate-hypotonia poor feeding, absent reflexes; second phase-
hyperactive, uncontrollable polyphagia, mental retardation
Anesth: Obesity of extreme proportions leading to cardiopulmonary failure
Progeria Hutchinson-Gilford syndrome
Desc: Premature aging starts 6 months-3 years: cardiac disease-ischemia,
hypertension, cardiomegaly
Anesth: Anesthesia as for adults with myocardial ischemia
Prune-belly syndrome
Desc: Agenesis of abdominal musculature, renal anomalies, cryptorchidism
Anesth: Poor cough-respiratory infections: respiration requires use of
accessory muscles; treat as full stomach: intubate and assist or control
ventilation: progressive failure, urinary tract infection frequent
Riegers syndrome
Desc: Myotonic dystrophy and other myopathies; hypoplasia of maxilla,
abnormal teeth, mental retardation: occasional imperforate anus
Anesth: Anesthetic requirements dictated by associated muscle disease-see
amyotonia congenita, myotonic dystrophy
Riley-Day syndrome familial dysautonomia
Desc: Deficiency of dopamine hydroxylase; hy pertensive and hypotensive
attacks, absent lacrimation, abnormal sweating; insensitive to pain:
poor
suckling and swallowing
Anesth: Emotional lability: recurrent aspiration, pneumonia and chronic
lung disease; labile blood pressure; sensitive to adrenergic and
cholinergic drugs; respiratory center insensitive to carbon dioxide; avoid
respiratory depressants
Rubinsteins syndrome
Desc: Mental retardation, microcephaly; frequent chest infections;
swallowing ab normality; congenital heart disease
Anesth: Repeated aspiration leads to pneumonia and chronic lung disease
Sanfilippos syndrome mucopolysaccharidosis III
Desc: CNS malfunction in childhood progresses to mental retardation and
dementia; no hepatosplenomegaly or cardiac problems
Anesth: No anesthetic problems described, emotional disturbance,
agitation, and dementia
Scleroderma
Desc: Diffuse cutaneous stiffening; plastic surgery required for
contractures and constrictions
Anesth: Scarring face and mouth–difficult airway and intubation; chest
restriction-poor compliance, diffuse pulmonary fibrosis-hypoxia; veins
often invisible and impalpable; cardiac fibrosis or cor pulmonale; history
of steroid therapy
Sebaceous nevi linear
Desc: Linear nevi from forehead to nose; hydrocephalus, mental
retardation, associated with
coarctation and hypoplasia of aorta
Anesth: Cardiovascular complications
Shy-Drager syndrome
Desc: Orthostatic hypotension; diffuse degenera tion of CNS, and autonomic
nervous system; decreased sweating; hypersensitive to angiotensin and
epinephrine
Anesth: Labile pulse and blood pressure possibly caused by to defective
baroreceptor response; treat hypotension with infusion; phenylephrine
hydrochloride Neo-Synephrine
Silvers syndrome
Desc: Short stature, skeletal asymmetry: micrognathia; abnormal sexual
development
Anesth: Possibly difficult intubation
Sipples syndrome multiple endocrine adenomatosis type II
Desc: Pheochromocytorna and medullary thy roid carcinoma: parathyroid
adenoma: CNS tumors: schwannoma of mediastinum associated: Cushings
disease
Anesth: Management of pheochromocytoma 75 bilateral; problems of
multiple endocrine disorders
Smith-Lemli-Opitz syndrome
Desc: Mental retardation; genital and skeletal anomalies-micrognathia;
thymic hypoplasia
Anesth: Airway and intubation problems: pneumonia, possible increased
susceptibility to infection
Sotos syndrome cerebral gigantism
Desc: Acromegalic features: dilated ventricles but normal intracranial
pressure
Anesth:
All features nonprogressive: possible airway problems as a result
of acromegalic skull: no other described problems
Stevens-Johnson syndrome
Desc: Erythema multiforme, urticarial lesions, and erosions of mouth,
eyes, genitalia: possibly hypersensitivity to exogeneous agents drugs,
infections etc
Anesth: Oral lesions-avoid intubation, esoph ageal stethoscope:
monitoring difficult because of skin lesions: fibrillation myocarditis,
pericarditis occur: febrile episodes: pleural blebs and pneumothorax may
occur
Sturge-Weber syndrome
Desc: Cavernous angioma over third division of fifth cranial nerve:
intracranial calcification, convulsions, and maybe progressive neurologic
deficit
Anesth: No specific anesthetic problems
Supravalvular aortic stenosis syndrome ideopathic infantile
hypercalcemia Williams syndrome
Desc: Hypercalcemia and mental retardation: abnormal facies: cardiac-
dyspnea angina: therapy-low calcium diet, steroids, cardiac surgery
Anesth: Fixed cardiac Output and ischemia; his tory of steroids: monitor
serum calcium ion levels
Tangier disease anal phalipoproteinemia
Desc: Low serum cholesterol level: orange ton sils and rectal mucosa
splenomegaly 50 neurologic
abnorniality; premature coronary disease
Anesth: Anemia and thrombocytopenia caused by hypersplenism; ahnormal EMG
care with muscle relaxants: premature ischemic heart disease
Tay-Sachs disease
Desc: Gangliosidosis; blindness and progressive dementia and degeneration
of CNS
Anesth: No described anesthetic hazard: progressive neurologic loss leads
to respiratory complications: treatment-supportive measures only
Thrombocytopenia with absent radius
Desc: Episodic thrombocytopenia precipitated by stress, infection
surgery, etc: low platelets improve to normal by adulthood; congenital
heart disease in 30
Anesth: Platelet transfusion for surgery or bleeding 35 to 40 die in
first year of intracranial hemorrhage; avoid elective surgery in first
year
Treacher Collins syndrome mandibulofadysostosis
Desc: Micrognathia and aplastic zygomatic arches: microstomia choanal
atresia: congenital heart disease may occur
Anesth: Possible airway and intubation difficul ties: less severe than
Pierre Robin deformity
Tuberous sclerosis
Desc: Adenoma sebaceum of skin, epilepsy and mental retardation:
intracranial calcification in 50: hamartomas in lungs, kidneys, heart
Anesth: Kidneys-pyelonephritis
and renal failure: care with renally
excreted drugs: lungs-possible rupture of lung cysts: possible cardiac
arrhythmia
Turners syndrome
Desc: XO chromosome: micrognathia, coarctation, dissecting aneurysm of
aorta or pulmonary stenosis: renal anomalies in more than 50
Anesth: Possibly difficult intubation: cardiovascular abnorniality:
possible renal disease-care with renally excreted drugs
Urbach-Wiethe disease cutaneousmucosal hyalinosis
Desc: Type of histiocytosis see Hand-Schuller Christian disease;
hoarseness or aphonia; hyaline deposits in larynx and pharynx
Anesth: Cautious intubation
VATER association
Desc: Vertebral anomalies, Ventricular septal defect, Anal atresia, T-E
fistula, Radial dysplasia, Renal anomalie
Anesth: Respiratory distress Problems associated with VSD
von Gierkes disease
Desc: Glycogen storage disease type 1; hepatomegaly, enlarged kidneys,
severe attacks of hypoglycemia
Anesth: Monitor blood sugar and acid-base balance IV glucose infusion;
diazoxide for hypoglycemia
von Hippel-Linclau disease
Desc: Retinal or CNS hemangioblastoma posterior fossa or spinal cord;
associated with pheochromocytoma, renal, pancreatic, or hepatic cysts
Anesth: Problems
those of associated pheochromocytoma, renal and hepatic
pathology
von Recklinghausen disease neurofibromatosis
Desc: Cafe au lait spots: tumors all parts CNS peripheral tumors associated
with nerve trunks: increased incidence pheochromocytoma; 50
kyphoscoliosis: honeycomb cystic lung changes: renal artery dysplasia and
hypertension
Anesth: Screen for pheochromocytoma urinary VMA; should be investigated
for lung function: tumors may occur in larynx and right ventricle outflow
tract: care with renally excreted drugs if kidneys involved
von Willebrands disease pseudohemophilia
Desc: Prolonged bleeding time decreased factor VIII activity caused by
defective platelet adhesiveness: capillary abnor mality
Anesth: Bleeding can be controlled by fresh or fresh frozen plasma,
cryoprecipitate: avoid salicylate therapy effect on platelets, possible GI
bleeding
Weber-Christian disease chronic nonsuppurative panniculitis
Desc: Necrosis of fat in any situation including retroperitoneal,
pericardial and meningeal
Anesth: Involvement of retroperitoneal tissues may cause acute or chronic
adrenal insufficiency, of pericardium leads to restrictive pericarditis of
meninges causes convulsions; avoid
trauma to fat by heat, cold, or
pressure
Welander muscular atrophy
Desc: Initial involvement of peripheral muscles: prognosis good for life,
poor for ambu lation: cardiac arrhythmias and congestive heart failure may
occur
Anesth: May require spinal fusion: extreme care with thiopental, muscle
relaxants: avoid respiratory depressant drugs
Werdnig-Hoffinarm disease
Desc: Infantile muscular atrophy more severe than Welander: feeding
difficulties, as piration usually death before puberty
Anesth: Chronic respiratory problems: minimal anesthesia required: avoid
muscle relaxants and respiratory depressant drugs: ventilatory support may
be required and weaning may be difficult
Wermer syndrome multiple endocrine adenomatosis type 1
Desc: Hyperparathyroidism: tumors Of Pituitary and pancreatic islet cells:
gastric Ulcer: occasionally have carcinoid tumors of bronchial tree
Anesth: Renal failure caused by stones: hypoglycemia from hyperinsulinism
Werner syndrome
Desc: Premature aging, diabetes: early cataracts: mental retardation in
50; bony lesions like osteomyelitis: cardiac infarction and failure
Anesth: Anesthesia as for adult with myocardial ischemia
Wilsons disease hepatolenticular
degeneration
Desc: Decreased ceruloplasmin causes abnormal copper deposits especially
in liver, and CNS motor nuclei: renal tubular acidosis
Anesth: Hepatic failure caused by fibrosis
Wiskott-Aldrich syndrome
Desc: Immunodeficiency with thrombocytopenia: 100 have low platelets,
absent isohemagglutinins; high IgA, low IgM, eczema, asthma
Anesth: Blood transfusion and platelets may be required; bone marrow
transplantation has been used: all blood products must be irradiated with
3000 rad to prevent graft-versus-host reaction: avoid contamination-often
die from generalized herpes or infection by nonpathogenic organisms
Wolff-Parkinson-White syndrome
Desc: ECG abnormal ity-short PR, prolonged QRS with phasic variation in
40; associated with many cardiac defects: anomalous conduction path
between atria and ventricles
Anesth: Scopolamine preferred to atropine as drying agent; tachycardia
caused by atropine or apprehension may change ECG with ST segment
depression; paroxysmal supraventricular tachycardia on induction of
anesthesia or during cardiac surgery has been reported; should be treated
with digitalis, propranolol, adenosine, pacemaker if necessary; neostigmine
may accentuate
WolffParkinson-White pattern
Wolman disease familial xanthomatosis
Desc: Adrenal calcification; resembles Niemann-Pick disease with
hepatosplenomegaly and hypersplenism; involvement other tissues from foam
cells, including myocardium
Anesth: Anemia, thrombocytopenia; platelet transfusion successful only
postsplenectomy
Source:unc.edu
