T.Haufe, Radiologie, SKH Dresden-Neustadt  

Viewable for logged on visitors (Log on)  

0 Preterm  

Male  

Generalized diseases  

congenital  

Es erfolgte ein induzierter Abort in der 20. SSW wegen sonographischem Verdacht auf eine letale fetale Skelettdysplasie.
Es sind keine familiären Erkrankungen bekannt.
ein gesundes Geschwisterkind,  

Überwiegend autosomal dominanter Erbgang, Genmutation im Kollagen1- oder 2-Gen mit verminderter Synthese und Strukturveränderungen der Kollagenfasern, variable klinische Ausprägung (vier Typen),
typisch ist eine erhöhte Knochenbrüchigkeit und blaue Skleren,  

<- view X-Ray 1

Röntgen 1: multiple mehrzeitige Rippenfrakturen mit Deformierungen und Kallusbildung, teilweise Rippenverkürzung




<- view X-Ray 2

Röntgen 2: für das Gestationsalter zu geringe Mineralisation des Schädels




<- view X-Ray 3

Röntgen 3: Deformierung,Verkürzung und Auftreibung der unteren Extremitäten durch multiple mehrzeitige Frakturen, geringe Mineralisation des Beckenskelettes,




<- view X-Ray 4

Röntgen 4: Armdeformierung durch multiple mehrzeitige Frakturen, Verkürzung und Verdickung der langen Röhrenknochen, inhomogene Knochenstruktur,


 

Total constellation (Consens)  

N/A  

Im vorliegenden Fall wurde nach genetischer Beratung in der 20.SSW wegen schlechter Prognose ein induzierter Abort durchgeführt.
Postmortal wurden Röntgenaufnahmen und ein Ganzkörper-CT angefertigt.
Die postmortale klinische und radiologische Diagnose wurde durch ein genetisches Gutachten bestätigt.
Insgesamt ist die Prognose abhängig vom Typ oder Subtyp.
Bei im vorliegendem Fall wohl vorliegendem Typ II-B ist die Prognose undünstig.  

Lt. des genetischen Gutachtens (Dr. M. Linné, Dresden) liegt in diesem Fall eine Neumutation vor.
Das Wiederholungsrisiko wurde als gering eingeschätzt.  

N/A  

1. Medline:
Schumacher, Seaver, Spranger
Fetal Radiology, A Diagnostic Atlas
Springer Berlin, Heidelberg, New York 2004
 

Osteogenesis imperfecta, intrauterine Frakturen, Glasknochenkrankheit  

THaufe , Radiologie , SKH Dresden-Neustadt. Osteogenesis imperfecta (fetal). PedRad [serial online] vol 9, no. 7.
URL: www.PedRad.info/?search=20090731100700  

Dirk Schaper, V. Hofmann (Halle/S.)  

Viewable for logged on visitors (Log on)  

19 Months  

Male  

N/A  

N/A  

1 7/12 year-old boy, findings after hydrocele resection (at 2.5 months) because of monstrous hydrocele on both sides. Ultrasound due to reoccuring hydrocele on the right side and testicular raising on the left.  

Hypothesis: testicular microlithiasis as a result of a multifocal sartoli-cell dysfunction.  

<- view X-Ray 1

Röntgen 1: multiple mehrzeitige Rippenfrakturen mit Deformierungen und Kallusbildung, teilweise Rippenverkürzung




<- view X-Ray 2

Röntgen 2: für das Gestationsalter zu geringe Mineralisation des Schädels




<- view X-Ray 3

Röntgen 3: Deformierung,Verkürzung und Auftreibung der unteren Extremitäten durch multiple mehrzeitige Frakturen, geringe Mineralisation des Beckenskelettes,




<- view X-Ray 4

Röntgen 4: Armdeformierung durch multiple mehrzeitige Frakturen, Verkürzung und Verdickung der langen Röhrenknochen, inhomogene Knochenstruktur,



<- view Ultrasound 1

Ultrasound 1: multiple echogenic, in both testes diffusely distributed focuses without acoustic shadows. Circa 1 mm large focus (like snow flurries). Colored doppler sonography was inconspicuous.

 

N/A  

N/A  

Testicular microlithiasis (TM) is a rare, most bilateral finding in ultrasound in boys and men. The increasing frequency in sonographic examinations of the testicles and the better ultrasound machines allow the diagnosis to be made more often. The incidence is given at 1.7 - 1.9%.
Noticeable is the combination of TM with other illnesses of the male genitalia (hydrocele, varicocele, epididymitis, testicular atrophy and germ cell tumor). A link between TM and tumor development cannot be surely proven at this point. Yearly sonographic examinations and follow-up examinations of the tumor factors are recommended. A biopsy can be made in cases with a focal parenchymal lesion.  

N/A  

Priebe CJ, Garret R (1970) Testicular calcifications in a 4-year-old boy. Pediatrics 46: 785-788  

2. Medline:
DellÀcqua A, Toma P, Oddone M, Ciccone MA, Marsili E, Derchi LE
Testicular microlithiasis: US findings in six pediatric cases and literature review.
Eur Radiol 1999;9(5):940-4

3. Medline:
Otite U, Webb JA, Oliver RT, Badenoch DF, Nargund VH.
Testicular microlithiasis: is it a benign condition with malignant potential?
Eur Urol 2001 Nov;40(5):538-42

4. Medline:
Furness PD 3rd, Husmann DA, Brock JW 3rd, Steinhardt GF, Bukowski TP, Freedman AL, Silver RI, Cheng EY.
Multi-institutional study of testicular microlithiasis in childhood: a benign or premalignant condition?
J Urol 1998 Sep;160(3 Pt 2):1151-4
 

Testes, microlithiasis, Testicular microlithiasis, hydrocele resection, sartoli cell dysfunction  

Dirk Schaper, V Hofmann. Testicular microlithiasis. PedRad [serial online] vol 3, no. 2.
URL: www.PedRad.info/?search=20030222173416  

H. Frimmel (Halle)  

Viewable for logged on visitors (Log on)  

14 Years  

Female  

N/A  

N/A  

14 year-old girl. Findings following a fibular fracture of the right talocrural joint in 01/2002. Thereby a chance finding of a "cystic finding" in the right distal tibia. Scintigraphy in 03/2002: no increased uptake, only slight photopenic area. Follow-up: Scintigraphy in 07/2002: marginally increased bone metabolism, possible tumor, therefore now sent to us for an MRI.  

Synonym: fibrous metaphyseal defect.
Developmental disturbance in the metaphyseal region of the long bones, to 90% in the lower extremity.
Defect with fibrous connective tissue with connection to the overlying periosteum.
Classical "tumor-like" lesion.
Is, when spanned over 4 cm, categorized as a "Non-ossifying fibroma"  

<- view X-Ray 1

Röntgen 1: multiple mehrzeitige Rippenfrakturen mit Deformierungen und Kallusbildung, teilweise Rippenverkürzung




<- view X-Ray 2

Röntgen 2: für das Gestationsalter zu geringe Mineralisation des Schädels




<- view X-Ray 3

Röntgen 3: Deformierung,Verkürzung und Auftreibung der unteren Extremitäten durch multiple mehrzeitige Frakturen, geringe Mineralisation des Beckenskelettes,




<- view X-Ray 4

Röntgen 4: Armdeformierung durch multiple mehrzeitige Frakturen, Verkürzung und Verdickung der langen Röhrenknochen, inhomogene Knochenstruktur,



<- view Ultrasound 1

Ultrasound 1: multiple echogenic, in both testes diffusely distributed focuses without acoustic shadows. Circa 1 mm large focus (like snow flurries). Colored doppler sonography was inconspicuous.


<- view X-Ray 1

X-ray 1: Sclerosed edges, cystic-looking defect in the corticalis.












<- view MRI 1

MRI 1: coronal T2-weighted image with fat saturation: Centrally, the mass is very low in signals without circumscribing edema. (Other findings: edema in the distal fibula following fracture)












<- view MRI 2

MRI 2: transversal T2-weighted image with fat saturation: In the corticalis of the tibia, there is a mass very low in signals without circumscribing edema.






<- view MRI 3

MRI 3: T1-weighted image, transversal: Excentric-lying lesion in the distal metaphysis of the right tibia, expansion: 3 cm, well-demarcated.






<- view MRI 4

MRI 4: T1-weighted image, transversal, with fat saturation after contrast: Excentric-lying lesion in the distal metaphysis of the right tibia, expansion: 3 cm, well-demarcated. No contrast uptake, some, discrete contrast uptake on the edges.



 

N/A  

In this case, no further diagnostic tests were needed after x-ray.

After stating the suspicion of a tumor after scintigraphy, an MRI was needed.

In general, the MRI does not give us further information about fibrous cortical defects that would help us in the diagnosis. In this case, the signal weakness of the fibrous material lead us to our goal.

In very large non-ossifying fibromas, the differential diagnosis could be juvenile or aneurysmatic bone cyst (proof of fluid in MRI).

Benign fibrous histiocytoma (age of the patient, pain).  

No symptoms. Often x-ray chance findings in the 1st and 2nd decade of life.
Very rarely spontaneous fractures.
Usually disappears in further bone development by the age of 18.  

Overall, conventional x-ray with the "classic findings":]
- sharply bordered, solitary radiolucency, parallel to the corticalis, located excentric in the metaphysis of the long bones (mostly lower extremity). It is divided from the healthy bone by a sclerosis band. In conjunction with the patient's history and clinical signs (age, missing symptoms), it is usually enough to make the diagnosis.

The MRI was performed due to the not quite clear findings in the scintigraphy.  

N/A  

5. Medline:
K. Bohndorf, H. Imhof
"Radiologische Diagnostik der Knochen und Gelenke"
Georg-Thieme-Verlag 1998  

fibrotic corticalis defect, fibrous cortical defect, fibrotic, corticalis defect, non-ossifying, fibroma, fibula, fibrous metaphyseal defect, non ossifying fibroma  

H Frimmel. Fibrous cortical defect. PedRad [serial online] vol 2, no. 8.
URL: www.PedRad.info/?search=20020815173954