DR. O.KUMARESAN

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ACHONDROPLASIA

• DR. O.KUMARESAN
• SMCH, CHENNAI

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ANAESTHETIC MANAGEMENT OF FAMILIAL
ACHONDROPLASTIC DWARF

• This report describes the successful management
  of a 20 year old female miss.Jothi, a familial
  achondroplastic dwarf with height of 120 cm and
  weight of 38kg taken up for emergency
  appendicectomy.
• Procedure was done under endotracheal tube
  general anaesthesia with controlled ventilation.

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CASE REPORT

• While assessing, no relevant medical or surgical
  history was found. Physical examination revealed
  her height as 120 cm and weight 38 kg with
  typical features of achondroplasia - Relatively
  large head with short limbs,
• mild kyphoscoliosis of the thoracolumbar spine,
• impalpable Lumbar vertebrae,
• short neck with limited extention,lt30
• mouth opening adequate, airway III (MPC),
  trachea midline and normal chest movements.
• peripheral IV access was difficult due to
  excessive soft tissues. Other systems and
  parameters were normal

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CASE REPORT contd

• Pre operative investigations were normal with Hb
  of 10gm.
• In the operation theatre, the patient was
  monitored with pulse oximeter, ECG and NIBP.
• With difficulty , left Basilic vein was
  cannulated with an 18 G IV cannula.
• ETGA with IPPV was planned. Emergency Airway
  management cart kept ready. Started with premed
  inj. Glycopyrrolate 0.2 mg. IV Inj. Midazolam 1
  mg. IV Inj. Fentanyl 80 mic.gm. IV.
• Pre oxygenation was done for 5 minutes.

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CASE REPORT contd

• Anaesthesia was induced with inj. Propofol 80 mg
  IV. Inj. Suxamethonium 80 mg. IV was used to
  facilitate the insertion of 6.5 mm cuffed oral
  ETT.
• Intubation was difficult because of restricted
  neck movements. Cormack and lehanes grade 2 view
• Managed with Optimal External Laryngeal
  Manipulation .
• Anaesthesia was maintained with nitrous oxide 4
  Ltrs and oxygen 2 Ltrs in Closed circuit.
• Atracurium was used as muscle relaxant. Intraop
  vitals were stable. Procedure lasted for 70
  minutes.
• Intraoperatively 700ml of IV crystalloids was
  given.

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CASE REPORT contd

• Reversal of residual paralysis was done with
  neostigmine 2.0mg and glycopyrrolate 0.4mg IV.
• Spontaneos ventilation was quickly established.
  After extubation patient was given 100oxygen by
  face mask for 10 minutes.
• Patient was monitored and remained clinically
  well.
• Post operatively Inj. Diclofenac 50 mg IM thrice
  a day was given for analgesia.
• Patient was given chest physiotherapy to avoid
  post operative respiratory complications.

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DWARFISM

• abnormal underdevelopment of the body,
  characterized predominantly by extreme shortness
  of stature,
• associated with numerous other defects and may
  involve varying degrees of mental retardation.
• Dwarfism has multiple causes, including genetic
  defects, endocrine dysfunction involving either
  the pituitary or the thyroid gland, chronic
  diseases such as rickets, renal failure,
  intestinal malabsorption defects, and
  psychosocial stress, as in the maternal
  deprivation syndrome.
• The Little People of America (LPA) define
  dwarfism as an adult height of 148 cm (4 feet 10
  inches) or less. Also known as nanism.
• Dwarfism is now more correctly called short
  stature.

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ACHONDROPLASIA

• Non-lethal form of short limbed dwarfism
  presenting at birth (rhizomelic form-proximal
  shortening) with an incidence of 0.5 1.5 /
  10,000 live births.
• Transmission is by an autosomal dominant gene.
• 80 spontaneous mutation
• 20 are familial
• mutation in the FGFR-3 gene.
• The commonest form of dwarfism and a relatively
  rare condition.
• normal periosteal bone deposition coupled with
  failure of endochondral bone formation.
• Abnormolities in chondrogenesis and osteogenesis.

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ACHONDROPLASIA contd

• Mental functions and muscular development are
  normal with low fertility rates.
• Pre maturity is frequent but those surviving
  first year of life generally have a normal life
  expectancy
• Due to overall appearance employed as clowns in
  the circus

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ACHONDROPLASIA contd

• Orthopedic problems
• Disparity between axial appendicular skeleton
• Tubular bones short wide abnormal metaphysis
• skull base uder developed
• Sternal prominence with pectus carinatum
• Narrow pelvic outlet
• kyphoscoliosis and genuvarum are common.
• Flexion contracture of hip
• Trident hand

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ACHONDROPLASIA contd

• Hallmark- progressive narrowing of
  interpedicular distance in the lumbarspine
  towards caudal direction
• SURGERIES
• limb lengthening procedures
• Surgical Decompression- for narrow
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  spinal canal
• Realignment osteotomies-genu varum

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SPINAL STENOSIS
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X RAY SKULL
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X-RAY CHEST
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SPINE RIBS
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FEMUR KNEE JOINT
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HUMERUS
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HANDS
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GENERAL ANAESTHESIA

• Anaesthesia-both regional and general pose
  problems for Achondroplastic dwarf.
• The intubation may be difficult due to
• craniofacial deformity,
• restricted neck movements,
• short neck, large tongue, small larynx
• Hence a small ETT may be required.

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GENERAL ANAESTHESIA

• Review of data by MAYHEW et al suggest that age
  based formula for selecting ETT size for children
  is.
• Tube size (mm ID) Age (Yr) 16 / 4
  predicts correct size.
• These patients also have narrow nasal passages
  and pharyngeal hypoplasia as a result of
  dysplasia and angulation of cranial base.
• Sternal prominence with pectus carinatum
  interfere with midline positioning of
  laryngoscope. Hence the use of laryngoscope with
  small handle is indicated.

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GENERAL ANAESTHESIA

• Hyperextension of neck should be avoided to
  prevent cord compression because foramen magnum
  stenosis is common.
• Requirement of drugs including inducing agents
  and relaxants is judged on body weight basis.
• Patients may have restrictive lung disease from
  rib hypoplasia, thoracic lordosis, leading to
  corpulmonale. Central and obstructive sleep
  apnoea is common.
• Because of all these factors adequate post
  operative physiotherapy is needed

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REGIONAL ANAESTHESIA

• Regional anaesthesia may be technically difficult
  because of poor landmarks.
• A relatively narrow spinal canal may result in
  cord compression.
• Prolapsed discs and deformed vertebral bodies
  are common in elderly Achondroplastics. The
  possibility of herniation with neurological
  symptoms and paraplegia may be against the use of
  regional techniques.

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REGIONAL ANAESTHESIA

• A narrow epidural space makes catheter insertion
  difficult and inadvertent subarachnoid tap is
  likely.
• SAB-results unpredictable level
  
• Recognition of subarachnoid tap may be difficult
  because free flow of CSF is difficult due to
  foramen magnum stenosis

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REGIONAL ANAESTHESIA

• Epidural Anaesthesia is preferable to SAB because
  it helps in titration of dose of LA according to
  height of block.
• Incremental dosage also prevents marked
  hypotension and its associated complications.
• Anxiety may be greater for these patients than
  normal persons. Hence the need for a good rapport
  between the Anesthesiologist and the patient.

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CONCLUSION

• The anaesthetic management of Achondroplastic
  dwarf is a challenge.
• All patients must be assessed preoperatively to
  identify possible hazards.
• The benefits and risks of GA and RA must be
  considered.

• TAKE CARE OF THE AGE RATHER THAN THE SIZE OF THE
  PATiIENT

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• THANK YOU