Adrenogenital - Ataxia-telangiectasia
B
C
D
E
Adrenogenital - Ataxia-telangiectasia:
Adrenogenital syndrome
Inability to synthesize hydrocortisone and possibly aldosterone; virilization of female
All need hydrocortisone even if not salt losing: check electrolytes
Albers-Schonberg disease (marble bone disease or osteopetrosis)
Brittle bones. pathologic fractures
Anemia from marrow sclerosis: hepatosplenomegaly: care in positioning and restraint. limited joint mobility
Albright-Butler syndrome
Renal tubular acidosis: hypokalemia; renal calculi
Correct electrolytes to within normal limits-, renal impairment
Albright's osteodystrophy (pseudohypoparathyroidism)
Ectopic bone formation, mental retardation
Hypocalcemia possible ECG conduction defects, neuromuscular problems, convulsions
Alport's syndrome
Progressive renal failure: nerve deafness: ocular abnormalities
Renal failure in second to third decade: care with renally excreted drugs
Alstrom syndrome
Obesity, blindness by 7 years: hearing loss; diabetes after puberty, glomerulosclerosis
Renal impairment: manaocinent of diabetes and obesity
Amyotonia congenita (infantile muscular atrophy)
Anterior horn cell degeneration
Sensitive to thiopental (reduced muscle mass) and respiratory depressants~ care with muscle relaxants
Amyotropic lateral sclerosis
Degeneration of motor neurons
Avoid succinylcholine: possible potassium release and cardiac arrest; minimal thiopental and curare; avoid respiratory depressants
Analbuminemia
Almost absent albumin 4100 mg/dL
Very sensitive to protein-bound drugs
Andersen's disease (glycogen storage disease type IV)
Debranching enzyme deficiency
Possibility of hypoglycemia during anesthesia
Apert's syndrome (acrocephalosyndactyly)
Craniosynostosis
Syndactyly of hands; difficult intubation: possibly raised intracranial pressure. associated congenital heart disease
Arthrogryposis multiplex
Multiple congenital contractures-, stiffness of joints associated with hypoplasia of attached muscles
Ten percent have congenital heart disease: possible airway problem
Asplenia syndrome
Absent spleen, bilateral visceral right-sidedness
Very complex cardiovascular anomalies, present with cyanosis and heart failure
Ataxia-telangiectasia
Cerebellar ataxia; skin and conjunctival telangiectasia; decreased serum IgA and IgE; 10% develop reticuloendothelial malignancy
Defective immunity-recurrent chest and sinus infections; bronchiectasis; aseptic techniques
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B:
Beckwith-Wiedman syndrome (Exophthalmos, macroglossia, gigantism)
Birth weight >4000 g; macroglossia and exomphalos; polycythemia visceromegaly in infants
In older children, associated with hepatocellular cancer; persistent severe neonatal hypoglycemia; airway problems
Blackfan-Diamond anemia (syndrome)
Congenital idiopathic red cell aplasia
Liver and spleen enlarged; hypersplenism. thrombocytopenia; steroid therapy required
Bowen's syndrome (cerebrohepatorenal syndrome)
Hypotonia, hepatomegaly, and neonatal jaundice; polycystic kidneys; associated congenital heart disease
Hypoprothrombinemia; care with renally excreted drugs and muscle relaxants
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C:
Carpenter's syndrome
Obesity; cranial synostosis; associated congenital heart disease; mental retardation; peculiar facies; syndactyly of fingers and toes
Hypoplastic mandible; possibly difficult intubation
Central core disease
Muscular dystrophy
See Amyotonia congenita
CHARGE association
Coloboma, Heart disease, Atresia choanae, Retarded growth, Genital anomalies, and Ear anomalies. Tetralogy of fallot, VSD, ASD, ASVD; micrognathia
Respiratory distress (choanal atresia); difficult airway; possible difficult intubation. Congenital heart disease
Chediak-Higashi syndrome
Partial albinism immunodeficiency; hepatosplenomegaly
Steroid therapy; recurrent chest infection; thrombocytopenia-may require platelets
Cherubism
Tumorous lesion of mandibles and maxillae with intraoral masses; may cause respiratory distress
Intubation may be extremely difficult; may require tracheostomy for acute respiratory distress, profuse bleeding at surgery
Chotzen's syndrome
Craniosynostosis
May be difficult intubation: associated renal anomalies and possible impaired renal excretion of drugs
Christ-Siemens Toumine syndrome (anhidrotic ectodermal dysplasia)
Absent sweating, heat intolerance
Cannot control temperature by sweating: persistent upper respiratory and chest infection caused by poor mucus formation
Chronic granulomatous disease
Inherited disorder of leukocyte function: recurrent infections with nonpathogenic organisms
Hepatomegaly in 95%~ poor pulmonary function; avoid infection-strict asepsis
Collagen disease: dermatomyositis, rheumatoid arthritis, systemic lupus erythematosus. polyarteritis nodosa
Systemic connective diseases frequently treated with steroids; osteoporosis and fatty infiltration of muscle: variable systemic involvement
Often have pulmonary infiltration or fibrosis. may have temporomandibular or cricoarytenoid ar1hritis causing airway and intubation difficulties: anemia common; risk of fat embolism after osteotomy, fracture. or minor trauma; renal involvement common, potential Addisonian crises
Conrad's syndrome
Chondrodystrophy with contractures. saddle nose, mental retardation; associated congenital heart disease and renal anomalies
Problems are those of associated renal and cardiac disease
Cretinism (congenital hypothyroidism)
Absent thyroid tissue or defective synthesis thyroxine and goiter
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 (cat's cry syndrome)
Chromosome 5-P abnormal, abnormal cry, microcephaly micrognathia; congenital heart disease; hypertelorism exophthalmos; catlike cry
Airway problems-stridor, laryngomalacia; possibly difficult intubation
Crouzon's disease
Exophthalmos, hypertelorism; craniosynostosis, hypoplastic mandible
Possibly difficult intubation. severe blood loss with craniofacial operation
Cutis laxa
Elastic fiber degeneration, pendulous skin, frequent hernias; emphysema and cor pulmonale; arterial fragility
Pulmonary infection, emphysema, and cor pulmonale; poor tissues-IV cannula difficult to maintain; excess of soft tissues around larynx may lead to respiratory obstruction
Cystic fibrosis
Multisystem involvement
~'/~ imbalance resulting in hypoxemia; bronchial secretions; recurrent infection; cor pulmonale; liver abnormalities; malabsorption; vitamin K deficiency; coagulopathy
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D:
DiGeorge syndrome (third and fourth arch syndrome)
Absent thymus and parathyroid glands; immune deficiency; susceptibility to fungal and viral infections; treated by fetal thymic transplants
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)
Mental retardation; microcephaly; small nasopharynx: hypotonia: 60% have congenital heart disease: duodenal atresia in some; atlantoaxial instability
Difficult airway-large tongue: risk of airway obstruction; problems of cardiac anomalies; risk of cervical cord injury
Duchenne type muscular dystrophy
Muscular dystrophy with frequent cardiac muscle involvement; usually die in second decade
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'? Back to Top of Page
E:
Edward's syndrome (trisomy 18 [E])
Congenital heart disease in 95%: micrognathia in 80%; renal malformations 50% to 80%; usually die in infancy
Possible difficult intubation; care with renally excreted drugs
Ehlers-Danlos syndrome (cutis hyperelastica)
Collagen abnormality with hyperelasticity and fragile tissues; dissecting aneurysm of' aorta: fragility of other blood vessels~ bleeding diathesis
Cardiovascular system: spontaneous rupture of vessels: angiogram 1% mortality: ECG conduction abnormalities: IV cannula difficult to maintain hematoma: poor tissues and clotting defect lead to hemorrhage, especially of GI tract; spontaneous pneumothorax
Ellis-van Creveld syndrome (chondroectodermal dysplasia)
Ectodermal defects. skeletal anomalies: 50%, have congenital heart disease
Chest wall anomalies lead to poor lung function: may have abnormal maxilla and upper lip, hepatosplenomegaly
Epidermolysis bullosa
Erosions and blisters from minor skin trauma
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) Back to Top of Page