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LETTERS TO EDITOR
Year : 2018  |  Volume : 66  |  Issue : 2  |  Page : 531-534

Stoneman syndrome: A rare clinical entity


Department of Neurology, SMS Medical College and Hospital, Jaipur, Rajasthan, India

Date of Web Publication15-Mar-2018

Correspondence Address:
Dr. Bhawna Sharma
Department of Neurology, SMS Medical College and Hospital, Jaipur, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.227313

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How to cite this article:
Sharma B, Panagariya A, Paul M, Kumar K. Stoneman syndrome: A rare clinical entity. Neurol India 2018;66:531-4

How to cite this URL:
Sharma B, Panagariya A, Paul M, Kumar K. Stoneman syndrome: A rare clinical entity. Neurol India [serial online] 2018 [cited 2019 Oct 23];66:531-4. Available from: http://www.neurologyindia.com/text.asp?2018/66/2/531/227313




Sir,

Stoneman syndrome or fibrodysplastic ossificans progressiva (FOP) or Munchmeyer's disease is a rare genetic disease of ectopic soft tissue calcification with hand and foot deformities leading to severe restriction of joint movements.[1],[2] It was first described in 1692 in a young patient who turned into wood.[3] It may be sporadic or autosomal dominant. The disease is caused by mutation in the bone morphogenic protein (BMP) type I (Activin A receptor, type I [ACVR1]) leading to dysregulated bone formation.[4] The incidence, as reported from Europe and United States, is around 1 in two million individuals.[5] There are a few case reports from the Indian subcontinent.[6]

An 18-year old boy, born of nonconsanguineous marriage, with normal birth and developmental history, was admitted with a history of gradual restriction of movements of the lower limbs, neck, and upper limbs for 10 years. It was associated with an inability to open his mouth for 3 months, impairing his food intake and interfering with his speech. He had a history of fall from the roof at 8 years of age. He had no major injury. Since then, he had gradual restriction of movement of his left leg. He was unable to flex his left knee and had difficulty in walking. This was followed by restricted movement of the left hip and, therefore, he was unable to squat or sit on the floor. His right leg was also affected but to a lesser extent. He also noticed some swelling over the back of his neck since then, which gradually increased in size. The neck and whole of his back was converted to a hard rod like structure with severe wasting of the back muscles. One year later, he found that he developed restriction of movement of the left elbow followed by left shoulder. About 3 months prior to admission, he had gradual difficulty in opening his mouth which progressed to an extent where his upper and lower jaw became stuck together. He was unable to consume any solid food and was unable to speak properly. He had bilateral deformed great toe present since birth. His cognition and behavior was normal. On examination, there was restricted movement of the neck, left shoulder, left elbow, bilateral hip, and knee (left more than right). He had severely restricted temporomandibular joint movement. His great toes were smaller than the other toes with hallux valgus [Figure 1]. His spine was hard, rigid, deformed, and displaced. The muscles of his back were hard and prominent [Figure 2]. He was unable to move his neck or bend his back. Neurological examination was normal except for brisk reflexes. All hematological and biochemical tests including calcium, phosphate, vitamin D, and parathyroid hormone were normal.
Figure 1: Short bilateral great toes with hallux valgus

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Figure 2: Deformed and rigid spine with extraosseous calcification of back muscles

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X-ray of the cervical spine showed soft tissue calcification, extending from the external occipital protuberance to the spine [Figure 3]. Chest X-ray shows multiple areas of soft tissue calcification with calcified paravertebral muscle and kyphoscoliosis [Figure 4]. X-ray of both feet showed bilateral short first metatarsals with areas of new bone formation [Figure 5]. Computer tomography (CT) of the head showed bilateral basal ganglia and dentate nucleus calcification [Figure 6].
Figure 3: X ray cervical spine showing soft tissue calcification extending from the exteral occipital protuberance to the back

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Figure 4: Chest X ray showing soft tissue calcification of lung parenchyma, calcified paravertebral muscles and kyphoscoliosis

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Figure 5: X ray images of both feet showing showing short first metatarsal and hallux valgus

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Figure 6: CT scan of the head showing bilateral basal ganglia and dentate nucleus calcification

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FOP is a clinicoradiological syndrome.[1] The diagnosis is made on the basis of three major criteria:[7] congenital anomaly of great toes, heterotrophic soft tissue ossification, and progression of disease in a characteristic temporal pattern.[7] Bilateral great toe abnormalities are present in almost 79–90% of the cases.[6] The symptoms start in the first or second decade,[6],[7] and often have a precipitating factor. Heterotopic ossification is the hallmark of the disease,[1] It starts usually in the cervical paraspinal region and gradually spreads in a craniocaudal direction and later peripherally, making the patient progressively disabled.[7] Scoliosis is a common feature. Temporomandibular joint dysfunction is described in the case described by Sheth et al.[2] There are occasional flare ups caused by an injury.[8] The diagnosis is clinical and made by roentgenograms. Muscle biopsy should be strictly avoided as it precipitates new bone formation.[9] Bone scintigraphy with 99mTc-MDP may demonstrate early heterotopic ossification and also helps in the assessment of prognosis.[9] The differential diagnosis are Albright hereditary osteodystrophy, pseudomalignant heterotrophic calcification, progressive osseous heteroplasia, Klippel–Feil syndrome, ankylosing spondylitis, and osteosarcomas.[10] Genetic testing is available in some laboratories. There is no definitive treatment for FOP. Exacerbations can be treated with corticosteroids, nonsteroidal anti-inflammatory drugs, and bisphosphonates, as indicated by open trials.[11] Cyclooxygenase 2 (COX2) inhibitors and leukotriene inhibitors are other options. The patient should be advised to avoid precipitating factors.[11] We gave a trial of corticosteroid in the form of 500 mg injection methylprednisolone for 5 days and put our patient on alendronate.

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.
Rogers JG, Geho WB. Fibrodysplasia ossificans progressiva. A survey of forty-two cases. J Bone Joint Surg Am 1979;61A: 909-14.  Back to cited text no. 1
    
2.
Sheth SB, Kumar SN, Sabhlok S, Singh M. Munchmeyer's disease—a rare case report and review of literature. Dentomaxillofac Radiol 2014;43:20140022.  Back to cited text no. 2
    
3.
Chaurasia A, Mishra V, Katheriya G. Munchmeyer's disease – A case report. J Oral Med Oral Surg Oral Pathol Oral Radiol 2016;2:141-7.  Back to cited text no. 3
    
4.
Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature Genet 2006;38:525-7.  Back to cited text no. 4
    
5.
Smith R. Fibrodysplasia (myositis) ossificans progressiva: Clinical lessons from a rare disease. Clin Orthop Rel Res 1998;346:7-14.  Back to cited text no. 5
    
6.
Connor JM, Evans DA. Fibrodysplasia ossificans progressiva: The clinical features and natural history of 34 patients. J Bone Joint Surg 1982;64B: 76-83.  Back to cited text no. 6
    
7.
Cohen RB, Hahn VG, Tabas JA, Peeper J, Levitz CL, Sando A, et al. The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva: A study of forty-four patients. J Bone Joint Surg 1993;75A: 215-9.  Back to cited text no. 7
    
8.
Gosai MM, Hariyani HB, Shah M, Purohit PH, Sadadia MA. Case report- fibrodysplasia ossificans progressiva. Natl J Med Res 2013;3:100-2.  Back to cited text no. 8
    
9.
Gülaldi NC, Elahi N, Sasani J, Erbengi G. Tc-99m MDP scanning in a patient with extensive fibrodysplasia ossificans progressiva. Clin Nucl Med 1995;20:188-90.  Back to cited text no. 9
    
10.
Kaplan FS, Gannon FH, Hahn GV, Wollner N, Prauner R. Pseudomalignant heterotopic ossification: Differential diagnosis and report of two cases. Clin Orthop Rel Res 1998;346:134-40.  Back to cited text no. 10
    
11.
Kaplan FS, Shore EM, Glaser DL, Emerson S. The medical management of fibrodysplasia ossificans progressiva: Current treatment considerations. Clin Proc Intl Clin Consort FOP 2003;1:1-71.  Back to cited text no. 11
    


    Figures

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



 

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