Case of the Month
 
 
Clinical History
 

 Case of the Month

  Patient presented with jaw swelling &  pain. 


 

– Courtesy,

 
Dr. Rajendra Solanki MD ( Consulting Radiologist, Suyog Imaging Centre, Mahesana & GIC-PGIR, Ahmedabad )

 

Dr. Hiren Gajera   Resident , GIC-PGIR, Ahmedabad)

 

Dr. Sambhav Shah, Consultant Radiologist.

 

Dr. Drushi Patel, Consultant Radiologist, GIC-PGIR, Ahmedabad

 

Dr. Mrugesh Doctor, Consultant Radiologist, GIC-PGIR, Ahmedabad

 


 

 

   
Dr. Rajendra Solanki MD
Consulting Radiologist
Suyog Imaging Centre, Mahesana
Radiscan diagnostics, Ahmedabad.
 
Governing body member, ICRI
Treasurer,  Gujarat State Chapter, IRIA
 
+91 9924204697
 
 
 
 

  

 

 
ANSWER

Methods 

CT scan and screening MRI were performed for the

same to look for characteristics of various

findings.

 

Results

CT and MRI findings revealed multiple odontogenic keratocysts

in mandible and maxilla.

   

Associated with other features like bridging of sella, premature

calcifications involving falx, multiple rib and vertebral anomalies.

 

In view of above described radiological  findings and given clinical

details – suggest Gorlin-Goltz syndrome aka Basal cell naevus

syndrome.

 

It’s a rare phakomatosis characterized by multiple odontogenic

keratocysts, multiple basal cell carcinoma, skeletal & other

abnormalities.


 Discussion

Gorlin's-Goltz syndrome is an autosomal dominant syndrome with high penetrance & variable expressivity, such that not all findings are present in each patient.

 

It’s known to run in families, with an equal frequency in both sexes.

 

Diagnosis is made by having two major criteria or one major and two minor criteria.

 

Major criteria
- Basal cell carcinoma: >2 or 1 under age 20
- Odontogenic keratocysts
- Palmar pits: 3 or more
- Bilamellar calcification of the falx cerebri
- Rib anomalies: bifid rib, fused, splayed. 
- First degree relative with Gorlin syndrome
Minor criteria
- Macrocephaly
- Frontal bossing, cleft lip or hypertelorism
- Sprengel deformity, pectus excavatum or pectus carinatum, syndactyly
- Bridging of the sella turcica, hemivertebrae, flame shaped ossesous radiolucencies
- Ovarian fibroma
- Medulloblastoma

 

Multiple odontogenic keratocysts, arising from the rests of dental lamina of the mandible and occasionally the maxilla are common in this disorder. These are unilocular or multilocular, lined by stratified squamous epithelium and may contain displaced teeth. These cysts may be complicated by the development of pathological fractures, ameloblastomas and squamous cell carcinomas, and have a high rate of recurrence.

 

It is important to differentiate odontogenic keratocysts from cystic lesions. CT enables the detection of small cysts not evident on radiographs; erosion of the cyst walls; displacement and resorption of adjacent teeth and can better define the extent of these cysts and their complications.

 

Rib anomalies could be unilateral or bilateral, alterations in 1st to 4th ribs are most typical and easily depictable on CT scan.  

 

 

Conclusion 

•In any patient with multiple OKCs, the possibility of GGS must be considered.

 

•It is great importance to make an early diagnosis because of its malignant        potential, since the severity of complications, such as malignant skin and brain tumors can be reduced, and maxillofacial deformities related to the jaw cysts can be avoided. Regular follow-up should be offered.

 

•Its transmission is autosomal dominant with good penetrance implies the need of genetic counseling.

 

•This syndrome has a number of skeletal and systemic radiological manifestations.

 

•Awareness of the pathognomonic radiologic findings (odontogenic cysts in the jaw, rib anomalies, calcifications of the falx cerebri) will allow early detection and definite diagnosis of GGS. These imaging findings are accurately recognizable in a cross sectional imaging.

References

1.Gorlin's syndrome - radiographic and CT manifestations. Gandage S G, Rahalkar M, Domkundwar S.  Indian J Radiol Imaging 2003;13:19-22.

2.Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. Gorlin RJ, Goltz RW. N Engl J Med. 1960;262:908–912.

3.Gorlin-Goltz syndrome: a rare case report Ravi Prakash Sasankoti Mohan, Sankalp Verma, Neha Agarwal, Udita Singh, BMJ Case Rep. 2013; 2013: bcr2013010409. Published online 2013 Jun 27. doi: 10.1136/bcr-2013-010409,PMCID: PMC3702894.

4.Imaging findings of Gorlin-Goltz syndrome, Parisa Hajalioghli, Ali Ghadirpour, Reza Ataie-Oskuie, Acta Radiol Short Rep. 2015 Jan; 4(1): 2047981614552294. Published online 2015 Jan 6. doi: 10.1177/2047981614552294, PMCID: PMC4299365

 

Final Diagnosis

GORLIN GOLTZ SYNDROME


 

 

 
 
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