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2011-05-24-18 Arthrogryposis © Cerekja www.TheFetus.net

Arthrogryposis
 
Albana Cerekja MD. PhD.*, Franco Di Iorio MD.**, Tamara Argento MD.***, Juan Piazze MD. PhD.****

*   Ultrasound Division, ASL Roma B, Rome, Italy.
**  Obstetrics and Gynecology Department, Policlinico Casilino, Rome, Italy.
***  Obstetrics and Gynecology Department, Policlinico Umberto I, Università “La Sapienza” Rome, Italy.
**** Ultrasound Division, Ceprano Hospital, Ceprano, Italy.


Introduction

Arthrogryposis or arthrogryposis multiplex congenita (AMC) is a generic term used in connection with a very heterogeneous group of disorders with a common feature which includes multiple congenital joint contractures. The word arthrogryposis (arthro-joint, gryp-curved), literally means curved joint (implying that it is fixed or stuck in the curved position).
The etiology is variable and not entirely understood but it is presumed to be multi-factorial. In most cases, arthrogryposis multiplex congenita is not a genetic condition. However, in approximately 30% of cases, a genetic cause can be identified.
The major cause of arthrogryposis is fetal akinesia which can be due to fetal or maternal conditions.

Fetal causes of arthrogryposis:

Neurogenic
 
They may include malformations or malfunctions of the central and peripheral nervous systems. Abnormalities include meningomyelocele, anencephaly, hydranencephaly, holoprosencephaly, spinal muscular atrophy, cerebrooculofacial-skeletal syndrome, and Marden-Walker syndrome

Muscular malformations or malfunctions
These are relatively rare causes of arthrogryposis. Some associated diseases include congenital muscular dystrophies, congenital myopathies, intrauterine myositis, and mitochondrial disorders.

Connective tissue
Examples include synostosis, lack of joint development, aberrant fixation of joints (diastrophic dysplasia and metatropic dwarfism), aberrant laxity of joints with dislocations (Larsen syndrome), and aberrant soft tissue fixations (popliteal pterygium syndrome).

Mechanical limitations to movement
Oligohydramnios or chronic amniotic fluid leakage, multiple pregnancies, uterine abnormalities such as bicornuate uterus with a septum or uterine fibroid may cause fetal constraint and secondary contractures.

Maternal causes of arthrogryposis:
  • Infections:  rubella, rubeola, coxsackievirus, enterovirus, Akabane
  • Fever more than 39° Celsius
  • Teratogens: drugs, alcohol, curare, methocarbamol, and phenytoin,
  • Trauma
  • Neuromuscular diseases such as myotonic dystrophy, myasthenia gravis, or multiple sclerosis.
Generalized fetal akinesia can also lead to polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord.
During early embryogenesis, joint development is almost always normal. Motion is essential for the normal development of joints and their contiguous structures. Lack of fetal movement causes development of the extra connective tissue around the joint. This results in fixation of the joint, limited range of motion and development of the joint contractures.

Prenatal ultrasound diagnosis is usually based on the detection of abnormal limb position, restrictive fetal movement with reduced or absent response to acoustic stimulation, growth restriction, polyhydramnios, and pulmonary hypoplasia. Low-set malformed ears, hypertelorism, short neck, cleft palate, scalp edema, thoracic deformities, camptodactyly, and micrognathia may also be found. There are also reports of early diagnosis of arthrogryposis in the first and early second trimester by detection of subcutaneous oedema.

 
Case report

This is a case of a 38-year-old woman G2P1 who was referred to our department for a second trimester anomaly scan. Her personal and familial history were unremarkable. Gestational diabetes was diagnosed early in the second trimester but the patient refused insulin treatment. Amniocentesis was performed with a normal result, karyotype 46,XX. The serological tests for infectious diseases (TORCH) were negative.

Our scan performed at 21 weeks revealed the following:


  • Normal fetal growth
  • Polyhydramnios (AFI 28 cm).
  • Bilateral genu recurvatum; both legs were in fixed extension
  • Left clubfoot
  • Persistent flexion of the left arm and extension of the right 
  • Abnormal position of the fingers of the right hand - 2nd finger was abducted and curved medially, the 3rd and 4th finger remained flexed and joint as in syndactyly.
  • General hypokinesia, no response to acoustic stimulation

These findings were consistent with the diagnosis of arthrogryposis multiplex congenita.
Parents opted for the pregnancy termination. The postnatal findings correlated with our ultrasound images and confirmed our diagnosis.

Images 1,2: Image 1 shows a normal fetal profile. Image 2 shows a right arm in the fixed extension.

 

Images 3,4: Image 3 shows the abnormal position of the fingers of the right hand. Image 4 shows a left arm in the fixed flexion in the elbow joint.

 

Images 5,6
: Image 5 shows a normal looking right foot. Image 6 shows the genu recurvatum of the right leg.

 

Image 7,8: Image 7 shows a left leg with genu recurvatum and clubfoot. Image 8 shows a left foot.

 

Video 1,2: Video 1 shows a right arm in the fixed extension and the left arm with flexed elbow. Video 2 shows the right hand with abnormally positioned fingers.

 

Video 3,4: Video 3 shows both legs and the left clubfoot. Video 4 shows the left leg with genu recurvatum.

 


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