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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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  Table of Contents    
CASE REPORT
Year : 2012  |  Volume : 30  |  Issue : 3  |  Page : 250-253
 

Wolcott-Rallison Syndrome


1 Department of Pediatric and Preventive Dentistry, Faculty of Dentistry, Jamia Millia Islamia, New Delhi, India
2 Department of Pedodontics and Preventive Dentistry, Jodhpur Dental College General Hospital, Boranara, Jodhpur, India

Date of Web Publication21-Dec-2012

Correspondence Address:
A Juneja
Department of Pediatric and Preventive Dentistry, Faculty of Dentistry, Jamia Millia Islamia, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.105019

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   Abstract 

Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These skeletal changes are progressive with age. There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. This report presents a case of Wolcott-Rallison syndrome in a 10 year old child.


Keywords: Autosomal recessive, dwarfism, early-onset diabetes mellitus, epiphyseal dysplasia


How to cite this article:
Juneja A, Sultan A, Bhatnagar S. Wolcott-Rallison Syndrome. J Indian Soc Pedod Prev Dent 2012;30:250-3

How to cite this URL:
Juneja A, Sultan A, Bhatnagar S. Wolcott-Rallison Syndrome. J Indian Soc Pedod Prev Dent [serial online] 2012 [cited 2019 Nov 14];30:250-3. Available from: http://www.jisppd.com/text.asp?2012/30/3/250/105019



   Introduction Top


Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) (WRS) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. Short stature and walking difficulties become evident in the second year of life when the child starts to walk. These skeletal changes are progressive with age. There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. There might be limited movement of some joints, particularly the shoulders, hips, elbows, and wrists. In 1972, Wolcott and Rallison described three siblings with a combination of infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. [1]

Spondyloepiphyseal dysplasia (SED) is a descriptive term for a group of disorders with primary involvement of the vertebrae and epiphyseal centers resulting in a short-trunk disproportionate dwarfism. Spondylo refers to spine, epiphyseal refers to the growing ends of bones, and dysplasia refers to abnormal growth. Two major types of SED are recognized, namely, SED congenita and SED tarda. Spranger and Wiedemann first described SED congenita in 1966. [2] In 1939, Jacobsen recognized SED tarda and described it under the mane of "hereditary osteochondrodystrophia deformans." In 1957, Morateaux, Lamy, and Bernard proposed the name "spondyloepiphyseal dysplasia tarda (SED)" with the presence of following features: [3]

  1. X-linked recessive inheritance
  2. Short stature first evident in childhood between 5 and 14 years
  3. Shortness due to impaired growth of spine
  4. Radiographically, characteristic flattening of vertebrae with central humping
  5. Dysplastic changes of femoral heads and neck
  6. Minor changes in other bones.
This paper documents a 10 year old male child diagnosed with Wolcott-Rallison syndrome and describes the primary clinical features, the disease-specific craniofacial, oral and dental findings, and the required dental care management for this patient.


   Case Report Top


A 10 year-old male child was reported to the Department of Pediatric and Preventive Dentistry, Faculty of Dentistry, Jamia Millia Islamia, New Delhi, with the chief complaint of bleeding from gums and spacing between teeth.

Born to consanguineous parents, the child was diagnosed with insulin-dependent diabetes mellitus at 3 months of age, whereas short stature was diagnosed at the age of 4 years which was later found to be X linked. Mentally, the child was normal. Blood test revealed raised fasting blood sugar levels, raised uric acid levels, altered liver function test with raised serum bilirubin, SGOT, SGPT, total proteins, albumins, and globulins levels. General examination revealed disproportionate short stature with short upper limb, genu valgum, mild joint laxity, and pectus carinatum suggestive of SED tarda X-linked type [Figure 1] and [Figure 2]. Magnetic resonance imaging (MRI) of hip and knee joints revealed irregular ossification suggestive of skeletal dysplasia. The mobility of patient had gradually decreased over a period of time due to progressive involvement of hip joint, presently being unable to stand without support [Figure 3]. Intra-oral examination revealed presence of localized gingivitis in mandibular anterior region along with generalized spacing and proclination of teeth, and presence of tongue thrusting habit [Figure 4], [Figure 5] and [Figure 6]. Radiographic examination revealed very low caries activity, with carious involvement of 75 [Figure 7].
Figure 1: Genu valgum clearly visible

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Figure 2: Pectus carinatum

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Figure 3: Overall view with inability to stand without support

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Figure 4: Intra‑oral view: Generalized spacing with gingivitis in mandibular anterior region

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Figure 5: Intra‑oral view: Maxillary arch

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Figure 6: Intra‑oral view: Mandibular arch

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Figure 7: Orthopentogram showing status of developing dentition

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Thorough oral prophylaxis was performed for the child under antibiotic coverage, followed by fluoride application. Diet counseling was done and oral hygiene instructions were given to the child and the parents and were called for regular monthly dental checkup.


   Discussion Top


Dwarfing conditions are frequently referred to as short-limb or short-trunk types, according to whether the limbs or trunk is more extensively involved. SED, metatropic dysplasia, and Kniest syndrome are considered short-trunk dwarfing conditions. SED is a generalized dysplasia with primary involvement of the vertebrae and proximal epiphyseal centers. Other generalized dysplasias with significant vertebral involvement, such as spondylometaphyseal dysplasia or spondyloepimetaphyseal dysplasia, affect the metaphyseal region of the long bone or metaphyseal and epiphyseal region of the long bone, respectively. [4]

The clinical and radiographic differences among the various spondylodysplasias are frequently related to age. SED congenita is a non-lethal form of congenital dwarfism characterized by typical skeletal dysplasias, vertebral changes, and ocular manifestations. It can be diagnosed at birth. In contrast, SED tarda is milder than SED congenita and late in onset, and appearance may be normal at birth, in accordance with the present case.

SED congenita is a rare genetic disorder. It is an autosomal dominant disorder; hence, males and females are affected in equal numbers. Occasional cases of autosomal recessive forms have been identified. SED tarda is X-linked recessive; hence, only males are affected. However, certain autosomal forms have been recognized, so females are occasionally affected. [5] The present case of Wolcott-Rallison syndrome is a form of SED tarda along with insulin-dependent diabetes mellitus.

Children with SED tarda appear normal at birth and develop clinical manifestations of trunk or hip when older than 4 years, as was visible in present case. Some patients experience mild growth retardation in childhood. Mild disproportionate trunk shortening occurs, but many patients achieve an adult height of more than 153 cm. Thus, true dwarfism may not be present. Atlanto-axial instability may be present, and patients may present with neurologic deficits or symptoms. Scoliosis or thoracic kyphosis with exaggerated lumbar lordosis may develop. Patients may present with back pain or stiffness. [6] Progressive symptomatic osteoarthritis of the hips and knees may be seen. Angular deformities of the lower extremities are mild. Patients exhibit normal achievement of motor and cognitive milestones; which was visible in the present case. Epiphyseal involvement in patients with SED tarda is primarily in the shoulders, hips, and knees. Involvement is symmetrical bilaterally. Changes in the hip may mimic bilateral Legg-Calve-Perthes disease. Varying degrees of coxa magna, flattening, extrusion, and subluxation may be present. [7]

Children with Insulin dependent Diabetes Mellitus (IDDM) have been reported to have caries incidence that is higher, [8] lower, [9],[10],[11] or similar to that of non-diabetic children. Periodontal disease is the most prevalent oral complication in IDDM and NIDDM patients and has been labeled the "sixth complication of diabetes mellitus." [12] In the present case, the parent had reported to the dental clinic at an initial stage, hence the progression from gingivitis to periodontitis could be prevented at an early stage.

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. Fewer than 60 cases have been described in the literature, although WRS is now recognized as the most frequent cause of neonatal/early-onset diabetes in patients with consanguineous parents. Other manifestations vary between patients in their nature and severity and include frequent episodes of acute liver failure, renal dysfunction, exocrine pancreas insufficiency, intellectual deficit, hypothyroidism, neutropenia, and recurrent infections. Hepatic dysfunction, manifesting in the form of elevated hepatic enzymes, liver enlargement and recurrent acute liver failure, is the third most frequently observed manifestation, and now appears as a characteristic feature of this syndrome. [13]

In such patients, close therapeutic monitoring should be recommended because of the tendency for frequent acute episodes of both hypoglycemia and ketoacidosis. Bone fractures may be frequent and must be managed at the orthopedic level. In WRS patients, interventions under general anesthesia increase the risk of acute aggravation, as a consequence of the toxicity of anesthetics, and should be avoided when possible. Similarly, any drug or vaccine not strictly necessary should be limited, taking into account the risk of triggering secondary liver and/or kidney failure. From the dental aspect, comprehensive treatment ranging from initial preventive measures to more definitive treatment of restorations, with complete guidance and motivation of parents to maintain oral hygiene and regular visit to a dental surgeon and timely dental checkup is required. Extractions should be considered as the last option in such patients.


   Conclusion Top


The purpose of this case report was to review the diagnostic characteristics of WRS. Due to its rarity, many of the particularities of WRS remain unknown. Close family and professional supervision are required to ensure that Wolcott-Rallison syndrome patients receive appropriate dental treatment.

 
   References Top

1.Bin-Abbas B, Al-Mulhim A, Al-Ashwal A. Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism. Am J Med Genet 2002;111:187-90.  Back to cited text no. 1
[PUBMED]    
2.Spranger JW, Langer LO Jr. Spondyloepiphyseal dysplasia congenita. Radiology 1970;94:313-22.  Back to cited text no. 2
[PUBMED]    
3.Bannerman RM, Ingall GB, Mohn JF. X-linked spondyloepiphyseal dysplasia tarda: Clinical and linkage data. J Med Genet 1971;8:291-301.  Back to cited text no. 3
[PUBMED]    
4.Bassett GS. Lower-extremity abnormalities in dwarfing conditions. Instr Course Lect 1990;39:389-97.  Back to cited text no. 4
[PUBMED]    
5.Wynne-Davies R, Hall C, Ansell BM. Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance. J Bone Joint Surg Br 1982;64:442-5.  Back to cited text no. 5
[PUBMED]    
6.Nakamura K, Miyoshi K, Haga N, Kurokawa T. Risk factors of myelopathy at the atlantoaxial level in spondyloepiphyseal dysplasia congenita. Arch Orthop Trauma Surg 1998;117:468-70.  Back to cited text no. 6
    
7.Lama G, Marrone N, Majorana M, Cirillo F, Salsano ME, Rinaldi MM. Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings. Pediatr Nephrol 1995;9:19-23.  Back to cited text no. 7
[PUBMED]    
8.Twetman S, Nederfors T, Stahl B, Aronson S. Two-year longitudinal observations of salivary status and dental caries in children with insulin-dependent diabetes mellitus. Pediatr Dent 1992;14:184-8.  Back to cited text no. 8
[PUBMED]    
9.Kirk JM, Kinirons MJ. Dental health of young insulin dependent diabetic subjects in Northern Ireland. Community Dent Health 1991;8:335-41.  Back to cited text no. 9
[PUBMED]    
10.Goteiner D, Vogel R, Deasy M, Goteiner C. Periodontal and caries experience in children with insulin-dependent diabetes mellitus. J Am Dent Assoc 1986;113:277-9.  Back to cited text no. 10
[PUBMED]    
11.Matsson L, Koch G. Caries frequency in children with controlled diabetes. Scand J Dent Res 1975;83:327-32.  Back to cited text no. 11
[PUBMED]    
12.Löe H. Periodontal disease. The sixth complication of diabetes mellitus. Diabetes Care 1993;16:329-34.  Back to cited text no. 12
    
13.Julier C, Nicolino M. Wolcott-Rallison syndrome. Orphanet J Rare Dis 2010;5:29.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
    References
    Article Figures

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