Paediatric Limb Deficiency

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Introduction

Limb deficiencies can be defined as a part or entire upper or lower limb failed to form its normal size or is missing. It can be classified into two:

1. Congenital and
2. Acquired.

Congenital limb deficiencies can involve upper or lower limb, at birth due to several factors although the exact cause is unknown.Approximately 58% congenital limb deficiencies involving upper limb. Longitudinal deficiency  of hand and transverse below elbow limb deficiency are the most common presentation with 20% of children present with limb deficiencies affecting more than one limb. On the other hand,proximal femoral focal deficiency (PFFD)  is a term for complex lower extremity congenital limb deficiency. It may be unilateral or bilateral, which includes the absence of proximal femur involving the acetabulum, femoral head, patella, tibia and fibula. Both Aitken  and Gillespie have developed a classification  for PFFD based on severity and complexity of medical intervention respectively. Another 40% of childhood amputation is acquired amputations involving trauma and disease-related.

Classification

Various classification has been developed to congenital limb deficiencies. However,Swanson  and colleagues have modified the classification based on embryonic failure:-

1.  Failure of formation of parts
2.  Failure of differentiation of parts
3. Duplication
4. Overgrowth
5. Undergrowth
6. Congenital constriction band syndrome
7. Generalized skeletal deformities
   
   

Causes

• Familial inheritance
• Chromosomal abnormality
• Poor nutrition
• Vascular disruption to the limbs
• Drug/alcohol abuse & during pregnancy
• Exposure to certain medications/chemicals
• Asymmetric neurological disorders (E.g. Poliomyelitis, encephalopathy, etc)
• Trauma
• Growth plate disturbances (E.g. Infection, tumor)
• Soft tissue overgrowth
  

Types

According to the ISO/ISPO classification , the anatomic and radiologic bases are used to describe the congenital limb deficiency. It consists of:-

1. Longitudinal deficiencies : 

•  Absence or reduction of an element or elements happens within the long axis of the limb.
• About two thirds of the cases are associated with other congenital anomalies such as Adams-Oliver, Holt Oram, Poland, Fanconi, and VACTERL syndrome.

     2. Transverse deficiencies :

• Limb has developed normally until certain level where skeletal elements are absent, though there may be digital buds.
• Most common cause is amniotic bands while the remaining cases are mostly due to underlying genetic syndromes.
  

Approximately 70%-85% of acquired amputation is due to trauma and the remaining is the result of disease.

1. Traumatic amputation

• Incidence vary according to age and geographic location.
• Farm machinery and household power tools are the leading factors to traumatic amputation.
• Amputation due to motor vehicle accidents, gunshot wounds and railroad accidents are common in older child.
  
  2. Disease-related amputation
• In children, it is rare for primary bone tumors to occur.
• However, the most common primary bone tumors are osteosarcoma and Ewing’s sarcoma.
  

Sign and Symptom

General (whereby both congenital and acquired facing similar difficulties)

1.  Loss of skeletal component
2. Delay normal motor development
3. Assistance with daily activities such as self-care
4. Potential emotional and social issues because of physical appearance

Congenital

1. Limb length discrepancy
2. Other associated musculoskeletal abnormalities

Acquired

1. Phantom sensation : A tingling sensation that felt by the patient as if the part amputated is still present.
2. Phantom pain: Pain that exist after an amputation which appears in burning, aching, shooting or any other characterization.

Diagnosis & Tests

• Prenatal ultrasound
• Genetic tests
• Physical examinations
• X ray
• MRI

Typically, x-rays are done to determine which bones are involved. When defects appear to be familial or if a genetic syndrome is suspected, evaluation should also include a thorough assessment for other physical, chromosomal, and genetic abnormalities. When available,assessment by a clinical geneticist is useful.

Medical Management

The medical management is divided into :-

Congenital

UL

     Amputation

• Shoulder disarticulation
• Forearm amputation
• Hand amputation
  

LL

1. Tenotomy
2. Amputation

• Hip disarticulation
• Transfemoral amputation
• Transtibial amputation
• Ankle and foot disarticulation
• Syme’s amputation or Boyd amputation
• Partial foot amputation and tenotomy
• Chopart (Mid-tarsal joint)
• Lisfranc (Tarsometatarsal joint)

     3.  Prosthetic