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The primary role of radiological imaging in the diagnosis of rare musculoskeletal diseases. Emphasis on ultrasound

Federica Rossi
Federica Rossi
, 
Carlo Martinoli
Carlo Martinoli
, 
Giovanni Murialdo
Giovanni Murialdo
, 
Angelo Schenone
Angelo Schenone
, 
Marina Grandis
Marina Grandis
, 
Diego Ferone
Diego Ferone
 and 
Alberto Stefano Tagliafico
Alberto Stefano Tagliafico
   | Sep 30, 2019
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Article Category: research-article
Published Online: Sep 30, 2019
Page range: 187 - 192
Received: Aug 25, 2018
Accepted: Jul 18, 2019
DOI: https://doi.org/10.15557/jou.2019.0028
Keywords
© 2019 Federica Rossi et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Fig. 1.

A. Short-axis sonogram over the anterior superior iliac spine (ASIS) showing the inguinal ligament (arrowheads) and the normal lateral femoral cutaneous nerve (arrow). B. Ultrasound-guided injection around the lateral femoral cutaneous nerve. Arrow: lateral femoral cutaneous nerve, arrowheads: needle. With permission from Tagliafico et al.(7)
A. Short-axis sonogram over the anterior superior iliac spine (ASIS) showing the inguinal ligament (arrowheads) and the normal lateral femoral cutaneous nerve (arrow). B. Ultrasound-guided injection around the lateral femoral cutaneous nerve. Arrow: lateral femoral cutaneous nerve, arrowheads: needle. With permission from Tagliafico et al.(7)

Fig. 2.

High-resolution US shows enlargement of an hypoechoic ulnar nerve (between calipers) in a post-traumatic mononeuropathy at the level of the medial epicondyle
High-resolution US shows enlargement of an hypoechoic ulnar nerve (between calipers) in a post-traumatic mononeuropathy at the level of the medial epicondyle

Fig. 3.

US images of a 35 year-old woman where oblique high-resolution US shows a focal area of enlargement and a hypoechoic area along the course of the pudendal nerve (white arrow) at the level of the distal Alcock canal. With permission from Tagliafico et al.(8)
US images of a 35 year-old woman where oblique high-resolution US shows a focal area of enlargement and a hypoechoic area along the course of the pudendal nerve (white arrow) at the level of the distal Alcock canal. With permission from Tagliafico et al.(8)

Fig. 4.

US images of the typical fat-split sign obtained with 22–2 MHz ultrasound on a soft-tissues tumor called small intramuscular schwannoma (asterisk) revealing a tapered cap of hyperechoic fat adjacent to the proximal (1) and distal (2) ends of the tumor. With permission from Tagliafico et al.(9)
US images of the typical fat-split sign obtained with 22–2 MHz ultrasound on a soft-tissues tumor called small intramuscular schwannoma (asterisk) revealing a tapered cap of hyperechoic fat adjacent to the proximal (1) and distal (2) ends of the tumor. With permission from Tagliafico et al.(9)

Primary role of medical imaging in the diagnosis: list of selected rare diseases. Diagnostic modality (CT, US, MRI, PET, X-rays), patients’ age, etiology of the rare diseases analyzed were considered. The names of rare conditions are indicated in the first column

Disease name Diagnostic Modality Patients’ age Etiology
1. Achondroplasia prenatal US, X-ray Childhood Genetic (autosomal dominant)(10)
2. Algodystrophy X-rays, CT, MRI All ages Multifactorial
3. Buschke-Ollendorff syndrome CT, X-ray All ages Genetic (autosomal dominant)
4. Claude Bernard Horner CT, MRI All ages Multifactorial
5. CREST Syndrome CT, X-ray Adulthood Multifactorial
6. Diffuse cutaneous systemic sclerosis X-ray, CT Adulthood Multifactorial
7. Emery-Dreifuss muscular dystrophy US, MRI Childhood Genetic (autosomal dominant or autosomal recessive or X-linked recessive)(11)
8. Ewing sarcoma X-ray, CT, MRI Childhood Unknown
9. Fibrodysplasia ossificans progressiva X-ray, CT Childhood Genetic (autosomal dominant)
10. Fibrous dysplasia X-ray, CT Childhood Multifactorial
11. Focal myositis MRI Adulthood Unknown
12. Gorham-Stout syndrome CT, MRI, X-rays All ages Unknown
13. Inclusion body myositis MRI Adulthood Unknown
14. Kienbok disease X-ray, CT, MRI All ages Unknown
15. Klippel-Trenaunay-Weber syndrome X-ray, CT, MRI Childhood Unknown
16. Larsen syndrome X-ray Childhood Genetic (autosomal dominant)
17. Léri-Weill dyschondrosteosis X-ray, CT Childhood Genetic (autosomal dominant)
18. Maffucci syndrome X-ray, CT Childhood Unknown
19. McCune Albright syndrome X-ray Childhood Genetic
20. Meralgia paresthetica MRI, US Adulthood Multifactorial(12)
21. Multifocal motor neuropathy MRI Adulthood Unknown
22. Multiple osteochondromas X-ray, CT Childhood Genetic (autosomal dominant)
23. Nager syndrome X-ray, prenatal US Childhood Genetic(13)
24. Nasu-Hakola disease MRI, X-ray, CT All ages Genetic (autosomal recessive)
25. Neuralgic amyotrophy MRI, US Adulthood Unknown(14,15)
26. Neurofibromatosis type 1 MRI Childhood Genetic (autosomal dominant)
27. Osteogenesis imperfecta MRI, X-ray, CT All ages Genetic (autosomal dominant or recessive)
28. Osteopetrosis MRI, X-ray, CT All ages Genetic (autosomal dominant or recessive or X-linked recessive)
29. Paget disease MRI Adulthood Unknown
30. Peripheral neuropathy MRI, US All ages Multifactorial(16)
31. Psuedoachondroplasia X-ray Childhood Genetic (autosomal dominant)
32. Pudendal neuralgia MRI, US Adulthood Multifactorial(17)
33. SAPHO syndrome X-ray, CT, MRI All ages Multifactorial
34. Soft tissue tumor PET, MRI, CT, US All ages Multifactorial(18)
35. Tarlov cysts MRI, CT Adulthood Multifactorial
36. Tietze syndrome X-ray, MRI, US All ages Unknown(19)

Main US findings and the role of US in the nine conditions where US may have an important contribution to diagnosis and even treatment

Name of rare diseases according to orphanet database Main US findings and US role Genetic mutation
Achondroplasia and Nager syndorme Early onset hydrocephalus, enlarged cerebellum and cisterna magna, and hydrancephaly on prenatal ultrasound FGFR3 and SF3B4
Emery-Dreifuss US identifies muscle fatty infiltration US assesses Achilles tendon X (Xq28)
Muscular dystrophy and neuralgic amyotrophy US identifies muscle fatty infiltration. Homogenously increased muscle echo intensity with attenuation of the US signal. Inflammatory myopathies can show homogenously increased echogenicity. Denervation can show “moth-eaten,” atrophic muscles with fasciculation Various
Meralgia paresthetica Increased caliber of lateral femoral cutaneous nerve.Useful for infiltrative treatment None, it is an entrapment syndrome
Peripheral neuropathy and pudendal neuralgia Increased caliber of the nerve.Evaluation of the fascicular textureEvaluation of extraneural findingsGuidance for infiltative procedures NA
Soft Tissue Tumor Lump detectionLump characterizationUS-guided biopsyFollow-up of superficial lesions Depends on tumor sub-type
Tietze syndrome Swelling of the costochondral joints and calcifications Corticosteroids injection Unknown
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