Axenfeld Reigers Syndrome Case Study

 

Axenfeld Reigers Syndrome – Implications from Dentist viewpoint

SUMMARY As a lot as 150 phrases summarising the case presentation and closing end result (this shall be freely on the market on-line)

A 4 12 months earlier male affected particular person reported with the criticism of quite a lot of decayed enamel. On oral examination, ankyloglossia and hypodontia affecting deciduous along with eternal enamel dentition had been evident along with quite a lot of carious enamel. The child moreover launched with ocular abnormalities which included microphthalamus, microcornea, bilateral nystagmus, alternating esotropia, corectopia, keratoirides adhesions of the left eye, bilateral cataracts and partial imaginative and prescient loss with every the eyes. Systemic consider revealed a ventricular septal defect. The evaluation of Axenfeld Reigers syndrome (ARS) was made on the premise of these medical findings. This example if untreated ends in lack of imaginative and prescient ensuing from glaucoma. The child was properly timed referred for administration thus stopping full imaginative and prescient loss. ARS has an particularly variable medical expression and dental involvement is extraordinarily penetrant and easily visualized. The dentist performs an vital perform in early evaluation of the state of affairs and in stopping the resultant eternal incapacity.

BACKGROUND Why you suppose this case is significant – why did you write it up?

Axenfeld Reigers syndrome is grouped beneath anterior section dysgenesis which is a spectrum of ocular malformations characterised by irregular enchancment of anterior chamber and iris. The incidence of this sickness is 1 in 200,000 dwell births with equal gender predisposition.1 Cases are most incessantly acknowledged in infancy or childhood resulting from irregular look of the anterior section. In some infants the concerns is perhaps tearing photophobia, and corneal clouding which are the symptoms of infantile glaucoma. Whereas some victims may present with seen loss. Orofacial abnormalities are among the many many alternative vital choices which symbolize this syndrome. 2

We proper right here by present a case of ARS the place dental findings carried out an vital perform in evaluation and early referral thus stopping extra points. This affected particular person had no optimistic family historic previous, implying that ARS can also be seen sporadically.

CASE PRESENTATION Presenting choices, medical/social/family historic previous

A four 12 months earlier male affected particular person reported to the dental division with the chief criticism of quite a lot of decayed enamel. The child was born full time interval from a non-consanguineous marriage. Developmental milestones had been attained often. On additional oral examination the child confirmed Dolicocephaly with microcephaly preauricular tags (Decide 1) and a beak shaped nostril (Decide 2). Intraoral examination revealed that the deciduous lower lateral incisors and canines had been clinically missing bilaterally. Root stumps was observed inside the space of the entire left and correct maxillary and mandibular central incisor along with maxillary left lateral incisor. Dental caries was well-known with respect to 52, 54, 55, 64, 65, 74, 75, 84 and 85. The child moreover launched with ankyloglossia (Decide three).

On fundamental examination the child was afebrile, the height and weight had been common for his age. The child launched with bilateral corneal clouding which was seen since starting. Since earlier 6 months the child moreover had the criticism of decreased imaginative and prescient. There was no contributing family historic previous. On ophthalmic examination the child launched with microphthalamus, microcornea, bilateral nystagmus, alternating esotropia, corectopia, keratoirides adhesions with the left eye, bilateral cataracts and partial imaginative and prescient loss with respect to every the eyes (Decide 4).Completely different systemic findings included ventricular septal defect and a hypo pigmented patch on the becoming scapula. The evaluation of Axenfeld Reigers syndrome was reached based of medical findings.

INVESTIGATIONS If associated

An Orthopantomograph was advised to confirm hypodontia. The Orthopantomograph (Decide 5) revealed that the lower deciduous lateral incisors and canines had been missing. Moreover the eternal tooth buds of lower incisors, canines and first premolars (31, 32, 33, 34, 41, 42, 43, and 44) had been absent. Whereas the maxillary arch confirmed no missing enamel.

DIFFERENTIAL DIAGNOSIS If associated

 

TREATMENT If associated

Oral prophylaxis, restorations of 52, 54, 55, 64, 65, 74, 75 and 84, extractions of 51, 61, 62, 71 and 81 and frenectomy had been deliberate after buying medical clearance.

OUTCOME AND FOLLOW-UP

 

DISCUSSION Embrace a extremely non permanent consider of comparable revealed situations

Axenfeld Reigers syndrome is an autosomal dominant genetic state of affairs typically, nevertheless can also be seen sporadically, as on this reported case as there was no optimistic family historic previous. Systemic abnormalities and anterior section dysgenesis are pathognomic to ARS. In 1920 Axenfeld described posterior embryotoxon and adherent iris strands, and congenital iris abnormalities with iris hypoplasia, poly cornea and corectopia with completely different systemic findings like dental, facial anomalies had been described in 1935 by Reiger. The combination of the Axenfeld Anomaly and Reiger syndrome is collectively typically known as Axenfeld Reigers syndrome (OMIM: 180500).three, 4

 

Dental defects in ARS differ from microdontia, hypodontia to complete anodontia. Missing lateral mandibular incisors are described to be the most common attribute. Maxillary hypoplasia can also be seen inside the ARS victims. 5 The presenting case confirmed hypodontia affecting deciduous along with eternal enamel along with ankyloglossia, which is a unusual and distinctive discovering. Completely different systemic findings embrace ear abnormalities, listening to loss, pituitary and cardiac abnormalities, fast standing, hypospadius and limb defects.

The etiology of ARS is thought to be improper differentiation, migration and or arrested enchancment of neural crest cells inside the anterior chamber of the eye, enamel facial bones, cardiovascular system, and pre umbilical pores and pores and skin. The molecular basis of this syndrome resides with the PITX2 and the PITX3 gene which signify the family of homeobox containing transcription concern genes. PITX2 gene mutations (4q25q26) current variability every between and inside households. 4, 6, 7. The reported phenotypes embrace Reiger and Axenfeld anomaly or combined syndrome. Peter’s anomaly and partial aniridia form the differential evaluation. The dental findings are extraordinarily penetrant; solely about 9% of victims with PITX2 mutations present isolated ocular defects. Plenty of genes have been acknowledged which set off anterior section dysgenesis. The rarity, low incidence, extreme morbidity and potential points identify for a by recording and sustaining an data base. This may current an notion into the pathogenesis so that genetic counselling is necessitated and early and speedy treatment is perhaps on the market for this debilitating state of affairs.

Glaucoma in infancy presents as photophobia, tearing and corneal clouding with corneal enlargement which is the complication of ARS. If acknowledged, at this degree surgical intervention can forestall imaginative and prescient loss. When glaucoma is acknowledged in early maturity, the sickness is already inside the superior stage. The proper state of affairs at this degree is to show the sibling or the offspring of the affected particular person with ARS, so that the sickness is acknowledged at an early stage and lack of imaginative and prescient could also be prevented.eight

LEARNING POINTS/TAKE HOME MESSAGES three to 5 bullet components – this is usually a required self-discipline

  • Prognosis of ARS depends on medical findings primarily the irregular enchancment of the anterior section of the eye which can be detectable at starting.
  • Seen impairment and visual loss ensuing from glaucoma is the extreme complication of ARS.
  • Solely 9% of ARS situations current distinctive ocular findings. Dental involvement in ARS is vital. Cases with delicate ocular and systemic involvement which could go undiagnosed, a pediatric dentist with the data of ARS would play an vital perform in diagnosing and referring the affected particular person for ophthalmic administration, thus saving the affected particular person from seen compromise and even lack of imaginative and prescient.

REFERENCES Vancouver mannequin (Was the affected particular person involved in a medical trial? Please reference related articles)

  1. Waring GO third, Rodrigues MM, Laibson PR: Anterior chamber cleavage syndrome. A stepladder classification. Surv Opthalmol 1975; 20:three.
  1. Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld- Rieger syndrome. A spectrum of developmental issues. Surv Ophthalmol 1985; 29:387-409.
  1. Axenfeld TH. Embryotoxon cornea posterius. Klin Monatsbl Augenheilkd. 1920; 65: 381-82.
  1. Alward WL: Axenfeld- Reiger syndrome inside the age of molecular genetics. Am J Opththalmol 2000; 130: 107-15.
  1. Fitch N, Kaback M: The Axenfeld syndrome and the Reiger syndrome. J Med Genet 1978; 15:30.
  1. Semina EV,Datson NA, Leysens NJ, Zabel BU, Carey JC, Bell GI, Bitoun P, Lindgren C, Stevenson T, Frants RR, van Ommen G, Murray JC. Exclusion of epidermal progress concern and extreme resolution bodily mapping all through the Reiger syndrome locus. Am J Hum Genet 1996; 59:1288-96.
  1. Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RH: Plenty of congenital anamolies along with the Reiger eye malformation in a boy with interstitial deletion of (4) (q25 → q27) secondary to a balanced insertion in his common father: proof for halotype insuffiency inflicting Reiger malformation. J Med Genet 1997; 34: 1012-14.
  1. Stevenson RE, Hall JG. Human malformations and Related Anamolies. 2nd ed Newyork: Oxford School Press.inc; 2006. P.311-313.

FIGURE/VIDEO CAPTIONS figures should NOT be embedded on this doc

Decide 1. The left ear exhibiting preauricular tags.

Decide 2. Image exhibiting Beak shaped nostril.

Decide three. Intraoral exhibiting Root stumps 71, 81, clinically missing 72, 73, 82, 83 and ankyloglossia.

Decide 4. Eyes exhibiting bilateral corneal clouding, esotropia and corectopia.

Decide 5. Orthopantomograph exhibiting congenital missing 72, 73, 82 and 83 and as well as absence of eternal tooth buds of 31, 32, 33, 34, 41, 42, 43, and 44.

PATIENT’S PERSPECTIVE Non-obligatory nevertheless impressed

 

Copyright Assertion

I, Shital Kiran, The Corresponding Author, has the becoming to assign on behalf of all authors and does assign on behalf of all authors, a full challenge of all psychological property rights for all content material materials all through the submitted case report (other than as agreed with the BMJ Publishing Group Ltd) (“BMJ”)) in any media acknowledged now or created ultimately, and permits this case report (if accepted) to be revealed on BMJ Case Research and to be completely exploited all through the remit of the challenge as set out inside the challenge which has been be taught. http://casereports.bmj.com/site/misc/copyright.pdf.

Date:9/9/14

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