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 Table of Contents  
CASE REPORT
Year : 2017  |  Volume : 20  |  Issue : 1  |  Page : 43-46

Familial athrogryposis multiplex congenita in Gusau, Nigeria: Case report and review of the literature


1 Department of Paediatrics, Ahmad Sani Yariman Bakura Specialist Hospital, Gusau, Zamfara, Nigeria
2 Department of Medicine, Ahmad Sani Yariman Bakura Specialist Hospital, Gusau, Zamfara, Nigeria
3 Department of Paediatrics, Ahmadu Bello University Teaching Hospital, Zaria, Kaduna, Nigeria
4 Department of Paediatrics, Federal Medical Centre, Gusau, Zamfara, Nigeria

Date of Web Publication11-Apr-2017

Correspondence Address:
Bilkisu Ilah Garba
Department of Paediatrics, Ahmad Sani Yariman Bakura Specialist Hospital, Gusau, Zamfara
Nigeria
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DOI: 10.4103/1118-8561.204334

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  Abstract 


Arthrogryposis multiplex congenita (AMC) is characterized by contractions of multiple joints present at birth with fat or fibrous tissue partially or totally replacing muscles. The etiology is from the interplay of genetic and environmental factors. A 2-day-old male term neonate presented with a history of multiple contractures in all limbs since birth, fever, and vomiting of 1-day duration. An older sibling, a male child had similar multiple contractures in all limbs and died a few days after birth. A maternal aunt had a male child with multiple contractures of all limbs who also died a few days after birth. Parents are young and not related. Our case had multiple contractures and specific posture involving all the limbs; however no cardiac or neurological abnormality was observed. He was managed as a case of neonatal sepsis with AMC (likely X-linked) with antibiotics and had plaster of Paris applied on the lower limbs. He did well and was discharged home to be followed up at the clinic. He, however, did not come for follow-up and died at home at the age of 10 weeks. Arthrogryposis is a common congenital presentation which requires comprehensive musculoskeletal evaluation and genetic consultation. Early rehabilitation requires the involvement of the parents or guardians and a multidisciplinary approach. This is to optimize possibility of making a diagnosis and providing parents with accurate information regarding the likelihood of recurrence. However, accurate information on recurrence is only possible when the cause of the AMC in any patient/family under investigation is identified.

Keywords: Arthrogryposis, contractures, familial, joints


How to cite this article:
Garba BI, Muhammad AS, Musa A, Onazi SO, Ben-Wazieh AA, Yusuf I, Adeniji AO. Familial athrogryposis multiplex congenita in Gusau, Nigeria: Case report and review of the literature. Sahel Med J 2017;20:43-6

How to cite this URL:
Garba BI, Muhammad AS, Musa A, Onazi SO, Ben-Wazieh AA, Yusuf I, Adeniji AO. Familial athrogryposis multiplex congenita in Gusau, Nigeria: Case report and review of the literature. Sahel Med J [serial online] 2017 [cited 2020 Dec 3];20:43-6. Available from: https://www.smjonline.org/text.asp?2017/20/1/43/204334




  Introduction Top


Congenital contractures are common birth defects seen in newborns. Arthrogryposis multiplex congenita (AMC) are group of conditions with varied etiology and complex clinical features which include multiple congenital contractures in different joints of the body which start prenatally.[1],[2] Genetic and environmental factors have been implicated. However the etiology still remains unclear but generally any cause that leads to reduced fetal movement have been associated with congenital contractures.[1] It may result from the neurologic deficit, neuromuscular disorders, connective tissue abnormalities, amniotic bands, or fetal crowding.[2],[3],[4]


  Case Report Top


A 2-day-old male term neonate presented with a history of multiple contractures in all limbs since birth, fever, and vomiting of 1 day duration. The systemic review was essentially normal. No identifiable risk factor for arthrogryposis or maternal risk factors of sepsis. He was delivered after an uneventful pregnancy and said to have cried immediately after birth. He is the fourth child of his parents in a nonconsanguineous marriage. Both parents are healthy and young, mother is 25-year-old while father is 32-year-old. First two siblings were normal but third sibling, a male child had similar multiple contractures in all limbs and died a few days after birth. A maternal aunt had a similar male child with multiple contractures of all limbs who also died a few days after birth. No history of similar abnormalities in other family members.

On examination, he was febrile (axillary temperature 38.2°C), had unusually shaped ears and multiple contractures in all the limbs as as shown in [Figure 1], [Figure 2], [Figure 3] which include: Internal rotation at the shoulders, flexion at both elbow joints, right wrist joint, and metacarpal joints of both hands; internal rotation with extension of both hip joints; external rotation and extension of the left leg; fixed left knee, bilateral talipes equinovarus; genu varus of the right leg and polydactyl of both hands. There was no murmur detected and no obvious neurological deficit.
Figure 1: The image above shows multiple fixed positions of the joints in all limbs

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Figure 2: The image above shows multiple fixed positions of the joints in all limbs in another view

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Figure 3: The image above shows fixed positions of the joints of the upper limbs

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A diagnosis of AMC was considered with early onset neonatal sepsis. Full blood count result was suggestive of sepsis, however, no growth on blood culture, Urea and electrolytes were normal. Cranial and abdominal ultrasounds were normal. He was managed with antibiotics (ceftazidime and gentamicin) and the plaster of Paris (POP) cast was applied on both lower limbs after orthopedic surgeon reviewed him. The limbs still assumed their fixed position after the application of the POP cast. He did well and was discharged after 3 weeks to be followed up at the neonatology and orthopedic clinic. He, however, did not return for follow-up and said to have died at home at the age of 10 weeks from an unknown cause. Echocardiography, electroencephalogram, muscle biopsy, and cytogenetic studies could not be done as these are not available in our hospital. Parents could have benefited from genetic counseling. However, this is also not carried out in our hospital although the risk of recurrence was explained to them.


  Discussion Top


Arthrogryposis multiplex congenita can be a rare, familial, nonprogressive congenital disorder which is characterized by multiple joint contractures and can also have associated muscle weakness and fibrosis. Several conditions can result in joint contractures which include neurological diseases, connective tissue defects, muscle abnormalities, space limitations within the uterus, intrauterine or fetal vascular compromise and maternal diseases.[1],[5] It could be a clinical manifestation of different syndromes.[5] Several gene abnormalities have been found to be responsible for more than 150 specific types of arthrogryposis, of which 23 were associated with X-linked genetic diseases involving arthrogryposis.[6] The condition affects approximately 1 in 2–10,000 live births [1],[3],[7] with no sex predilection.[1]

Connective tissue deposition has been observed around joints which lead to fixation and contractures or skeletal abnormalities [8] due to intrauterine fetal movement restriction. The joint abnormalities may involve all limbs in the lower or upper extremities which are usually symmetrical, although various joints may be involved to a different extent.[9] Our case had all the limbs affected with multiple joint involvement.

There are many known subgroups of AMC which differ in signs, symptoms, and causes. The principal cause of AMC is both genetic and environmental factors, occurring individually or with a significant overlap among them.[1],[7]

A normal neurological examination as in our case may suggest:[1],[3],[4],[7],[10]

  • Amyoplasia (this is the commonest form of AMC. It is sporadic and characterized by the symmetrical improper development of limb muscles and often associated with a midline hemangioma. It has a recurrence rate of 5&1
  • Distal arthrogryposis (autosomal dominant, characterized by involvement of distal joints and sparing the large joints, ulnar deviation, talipes equinovarus, calcaneovalgus, and metatarsus varus)
  • Systemic connective tissue disorder
  • Multiple pterygium syndromes (autosomal dominant, recessive, or X-linked inherited syndromes. It is associated with multiple contractures, micrognathia, low-set ears, cardiac or lung hypoplasia and cystic hygroma)
  • Fetal crowding (from oligohydramnios, fibroids, uterine malformations, or multiple pregnancies).


An abnormal neurological finding, however, suggests an abnormality of the central or peripheral nervous system, motor end plate or muscles.[1]

We suspected our case had an X-linked syndrome since his affected sibling and cousin were both males. An autosomal dominant condition is unlikely as the two sisters were both unaffected, but one had two affected sons and the other had one affected son which suggests an X-linked disease.

Twenty-seven cases of arthrogryposis were reported over a 6 years period in a large UK teaching hospital. Six (29.6%) of the cases had family history of congenital malformations of which three had parents with arthrogryposis while three had siblings with arthrogryposis. Five (18.5%) were from consanguineous families.[8] Our case had all the features of AMC and, in addition, had other male family members (a sibling and a cousin) with similar malformations however his parents are not related.

Another male term neonate was reported from Poland [6] from a nonconsanguineous marriage. A 2-year-old boy was diagnosed with AMC at the age of 10 months in Macedonia,[11] the parents were also not related and no history of malformations in the family.

Hall et al.[12] found congenital contracture syndrome in 135 of 350 patients. They earlier observed specific positioning which were present at birth with associated internal rotation at the shoulders, extension at the elbows and flexion at the wrists. Severe equinovarus deformity of the feet was frequently present in an earlier report.[13] Twins have been described, but the condition is mainly isolated.[11]

Early rehabilitation of a child with arthrogryposis requires the involvement of the parents/guardians and a multidisciplinary approach to optimize the possibility of making a diagnosis and providing the parents with accurate information regarding the likelihood of recurrence.[7] However, accurate information on recurrence is only possible when the cause of the AMC in any patient/family under investigation is identified. This will enable the parents to make an informed decision regarding subsequent pregnancy.[7] With appropriate genetic counseling and testing, it is culturally acceptable to terminate subsequent pregnancies with a poorer outcome such as lung hypoplasia if detected early.


  Conclusion Top


Congenital contractures are a common birth defect with stiff joints being frequent clinical finding. Arthrogryposis can be a syndrome, part of many syndromes, malformations or muscular or neurological conditions. A comprehensive musculoskeletal evaluation, genetic studies and counseling are required for diagnosis.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis D. Diagnosing arthrogryposis multiplex congenita: A review. ISRN Obstet Gynecol 2012;2012:264918.  Back to cited text no. 1
    
2.
Bonilla-Musoles F, Machado LE, Osborne NG. Multiple congenital contractures (congenital multiple arthrogryposis). J Perinat Med 2002;30:99-104.  Back to cited text no. 2
    
3.
Staheli LT, Hall JG, Jaffe KM, Paholke DO, editors. Arthrogryposis: A Text Atlas. 1st ed. Cambridge, United Kingdom: Cambridge University Press; 1998.  Back to cited text no. 3
    
4.
Kimber E. Arthrogryposis: Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis. Gothenburg: 2009. p. 1-64. Available from: https://www.gupea.se>bitstream>gupe/2077/21079/3. [Last accessed on 2015 Aug 11].  Back to cited text no. 4
    
5.
Gordon N. Arthrogryposis multiplex congenita. Brain Dev 1998;20:507-11.  Back to cited text no. 5
    
6.
Hall JG. Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet 2014;57:464-72.  Back to cited text no. 6
    
7.
Binkiewicz-Glinska A, Sobierajska-Rek A, Bakula S, Wierzba J, Drewek K, Kowalski IM, et al. Arthrogryposis in infancy, multidisciplinary approach: Case report. BMC Pediatr 2013;13:184.  Back to cited text no. 7
    
8.
Navti OB, Kinning E, Vasudevan P, Barrow M, Porter H, Howarth E, et al. Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population. Prenat Diagn 2010;30:49-56.  Back to cited text no. 8
    
9.
Bevan WP, Hall JG, Bamshad M, Staheli LT, Jaffe KM, Song K. Arthrogryposis multiplex congenita (amyoplasia): An orthopaedic perspective. J Pediatr Orthop 2007;27:594-600.  Back to cited text no. 9
    
10.
Gyomorey S. Arthrogryposis Syndromes: Disorders with Congenital Contractures. Available from: http://www.fhs/mcmaster.ca.surgery/documents/arthrogryposis/pdf. [Last accessed on 2015 Aug 11].  Back to cited text no. 10
    
11.
Gucev ZS, Pop-Jordanova N, Dumalovska G, Stomnaroska O, Zafirovski G, Tasic VB. Arthrogryposis multiplex congenital (AMC) in a three year old boy: Differential diagnosis with distal arthrogryposis: A case report. Cases J 2009;2:9403.  Back to cited text no. 11
    
12.
Hall JG, Reed SD, Driscoll EP. Part I. Amyoplasia: A common, sporadic condition with congenital contractures. Am J Med Genet 1983;15:571-90.  Back to cited text no. 12
    
13.
Hall JG, Reed SD, Greene G. The distal arthrogryposes: Delineation of new entities – Review and nosologic discussion. Am J Med Genet 1982;11:185-239.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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