An index of syndromes and their anaesthetic implications

Abstract

PATIENTS often present for anaesthesia and surgery having been "labelled" with a diagnosis of some eponymous or rare syndrome. This index is an attempt to catalogue as many syndromes as possible which have anaesthetic implications and to give an indication of their main features.It is hoped that it will be useful as a ready reference especially for those involved in paediatric anaesthesia, as many of these patients present in infancy or childhood.The information is presented in tabular form with a cross index of alternative names. Where possible anaesthetic references are given. Where no anaesthetic references exist those given refer to descriptive literature. Name Adrenogenital syndrome SYnvno~EsDescription Inability to synthesize hydrocortisone. Virilization of female Anaesthetic Implications All need hydrocortisone even if not saltlosing. Check electrolytes ( 1 ) Albers-SchtJnberg disease (marble bone disease or osteopetrosis) Brittle bones, pathological fractures Albright-Butler Renal tubular acidosis syndrome hypokalaemia. Renal calculi Albright's osteodystrophy (pseudohypoparathyroidism ) Alport syndrome Ectopic bone formation. Mental retardation Nephritis and nerve deafness. Renal pathology variable Anaemia from marrow sclerosis. Hepa-tos~lenomegaly. Care in positioning and restraint ( 2 ) Correct electrolytes to within normal Limits. Renal impairment (3) Hypocalcaemia -possible ECG conduction defects, neuromuscular problems. Convulsions (4) Renal failure in 2nd--Srd decade. Care with renally excreted drugs (6) Alstr6m syndrome Obesity, blindness by seven years. Hearing loss. Diabetes after puberity -glomerulosclerosis Amyotonia congenita Anterior horn cell ( infantile muscular degeneration atrophy ) Renal impairment. Management of diabetes and obesity Sensitive to thiopentone ( reduced muscle mass ) and respiratory depressants. Care with muscle relaxants (7-10)

Anesthetic management of a patient with partial trisomy 18

“…On the other hand, Matsuda et al [6] reported a 3-year-old male with trisomy 18 who was scheduled for fixation of the testicle and developed muscular rigidity after administration of succinylcholine. Endotracheal intubation became impossible [7]. The patient was managed under mask anesthesia and had a high temperature (38.4~ and an elevated creatine phosphokinase level during surgery.…”

Moebius syndrome: a review of the anaesthetic implications

“…Children with cranial nerve palsies and weakness of the ocular muscles may present for correction of the resultant strabismus and orthopaedic procedures are also common due to the limb anomalies. There is little in the anaesthetic literature on the implications of this rare syndrome, other than unreferenced referrals to the possibility of difficult intubation with affected children (Jones & Pelton 1976). This paper sets out to review the past 15 years' experience of anaesthesia and Moebius syndrome in a tertiary paediatric teaching hospital.…”

“…Orofacial malformations are also common. These malformations include micrognathia, microstomia, tongue-tethering and premaxillary overgrowth (Jones 1988;Gorlin 1990). Other anomalies with anaesthetic implications which occur more frequently in Moebius syndrome include congenital cardiac disease (Carvella & Rogers 1978;Bosch-Banyeras et al 1984), cervical spine anomalies (Bouwes-Bavinck & Weaver 1986), peripheral neuropathies (Rubenstein et al 1975;Abid et al 1978) and pectoral muscle deficiencies (also known as Poland syndrome) (David 1972).…”

Primum non nocere

“…It may be the first anaesthesia for the newborn or infant and previously unrecognized syndromes may become apparent at this time. Primary assessment, past history and, if a syndrome is present, the anaesthesia implications thereof should be evaluated prior to induction of anaesthesia (Jones & Pelton 1976). In the case report under discussion the anaesthetic history indicated previous difficulty and the possible need for an alternative anaesthetic technique.…”