scholarly journals Joubert syndrome related disorder (JSRD): a case report and review of literature

2017 ◽  
Vol 4 (3) ◽  
pp. 1124
Author(s):  
Seema Sharma ◽  
Ajay Sharma ◽  
Vipin Sharma ◽  
Sandesh Guleria
Keyword(s):  
Case Report ◽  
Early Intervention ◽  
Eye Movements ◽  
Joubert Syndrome ◽  
Accurate Diagnosis ◽  
Review Of Literature ◽  
Radiological Findings ◽  
Related Disorder ◽  
Molar Tooth Sign ◽  
Intervention Measures

Joubert syndrome and related disorder (JSRD) is a rare disorder of midline structure of brain having characteristic clinical and neuro-radiological findings. The hallmark of diagnosis is molar tooth sign (MTS). Early accurate diagnosis can help in planning early intervention measures to reduce the morbidity. We are hereby presenting a case of eight months old female infant with abnormal eye movements since birth along with developmental delay. Clinical and radiological evidence proved that child is having Joubert syndrome related disorder. 

Joubert Plus Syndrome with Self-Mutilation: A Case report

2017 ◽  
Vol 41 (1) ◽  
pp. 66-69 ◽  
Author(s):  
Yousr N Mowafy ◽  
Nadia A Wahba ◽  
Aly A Sharaf
Keyword(s):  
Case Report ◽  
Multidisciplinary Approach ◽  
Treatment Plan ◽  
Rare Condition ◽  
Joubert Syndrome ◽  
Pediatric Dentistry ◽  
Lower Lip ◽  
Molar Tooth Sign ◽  
Self Mutilation ◽  
Dismal Prognosis

Background: Joubert syndrome is a very rare condition with dismal prognosis. It is characterized by several abnormalities including molar tooth sign on MRI. When coupled with mega cisterna magna- a feature of the Dandy Walker syndrome- it is categorized as Joubert plus syndrome. Case report: A 16 month old male child with Joubert syndrome was referred to the Pediatric Dentistry Department Clinic, Faculty of Dentistry Alexandria University, complaining of severe tongue and lower lip injury due to self-mutilation. He required multiple teeth extractions under general anesthesia to prevent further tongue and lip mutilation. Conclusion: Joubert plus syndrome is a very rare occurring condition. Because self-mutilation is sometimes fatal, a treatment plan tailored to each patient's need is mandatory. A multidisciplinary approach is recommended.

scholarly journals Chondroma of the mandibular condyle- rare location of a common benign cartilage tumour: case report and review of literature

2018 ◽  
Vol 4 (5) ◽  
pp. 1313
Author(s):  
Pradeep Goil ◽  
Manojit Midya ◽  
Pankaj Sharma ◽  
Gautam Prakash
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Mandibular Condyle ◽  
Interesting Case ◽  
Review Of Literature ◽  
Radiological Findings ◽  
Adequate Treatment ◽  
Rare Location ◽  
Slow Growing ◽  
Tubular Bones

<p>Chondroma is a benign tumour of mature hyaline cartilage.It is common in the tubular bones the hands and feetand conspicuous by its rarity in the mandible. We hereby present an interesting case of chondroma of the mandibular condyle that was managed in our department. The antecedent radiological findings and postoperative histopathological peculiarities of the case are discussed. This case also focuses the negligent attitude of our society towards one’s health problems until they are fraught with beliefs of cancer. Chondroma of the mandibular is a rare, benign slow growing tumour. Condylectomy is considered adequate treatment for all condylar masses. Surrounding margins of healthy soft tissue is also excised to prevent recurrences. </p>

scholarly journals Joubert Syndrome: A Case Report

2018 ◽  
Vol 15 (1) ◽  
pp. 23-26 ◽  
Author(s):  
Prakash Kafle ◽  
Sushil Krishna Shilpakar ◽  
Mohan Raj Sharma ◽  
Gopal Sedain ◽  
Amit K Pradhanang ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Fourth Ventricle ◽  
Autosomal Recessive ◽  
Developmental Disorder ◽  
Joubert Syndrome ◽  
Cerebellar Vermis ◽  
Resonance Imaging ◽  
Molar Tooth Sign ◽  
Magnetic Resonance Imaging Mri

Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. Magnetic Resonance Imaging (MRI) reveals the characteristic Molar tooth sign of midbrain and Batwing appearance of rostral fourth ventricle. Nepal Journal of Neuroscience 15:23-26, 2018

scholarly journals Branchial fistula: review of literature and case report

2017 ◽  
Vol 4 (11) ◽  
pp. 3576
Author(s):  
Salil Mahajan ◽  
Jaya Sorout
Keyword(s):  
Case Report ◽  
Head And Neck ◽  
Congenital Anomalies ◽  
Type I ◽  
Review Of Literature ◽  
Radiological Findings ◽  
Congenital Lesions ◽  
Branchial Arches ◽  
The Face ◽  
Branchial Fistula

The branchial arches are the embryological precursors of the face, neck and pharynx. Second most common congenital lesions of the head and neck in children are the anomalies of the branchial arches, with second arch anomalies by far the most common. Clinically, these congenital anomalies may present as cysts, sinus tracts, fistulae or cartilaginous remnants with typical clinical and radiological findings. We report the case of 11-month-old male child with congenital Type I Second branchial fistula on the left side of neck.

scholarly journals Newborn with multiple congenital anomalies in newborn, intensive care unit suggestive of joubert syndrome and related disorder with an atypical presentation

2019 ◽  
Vol 6 (6) ◽  
pp. 2726
Author(s):  
Garima Goyal ◽  
Ajay Arya
Keyword(s):  
Congenital Anomalies ◽  
Joubert Syndrome ◽  
Magnetic Resonance Images ◽  
Molar Tooth ◽  
Multicystic Dysplastic Kidney ◽  
Facial Dysmorphism ◽  
Multiple Congenital Anomalies ◽  
Related Disorder ◽  
Molar Tooth Sign ◽  
Dysplastic Kidney

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenotype. Molar tooth sign is not specific for JS. Another entity is termed as Joubert syndrome and related disorders (JSRD). Although the molar tooth sign and other important clinical features of the JS may be seen in these syndromes, they usually have supplementary prominent features. Author present a case of Joubert syndrome and related disorder in a term newborn delivered in the hospital of Government Medical College, Haldwani with multiple congenital anomalies. Macrocephaly, facial dysmorphism, polydactyly left hand and bilateral ballotable lumbar lump (multicystic dysplastic kidney). MRI showed molar tooth configuration of superior cerebellar peduncles, dilatation of lateral and third ventricles with aqueductal stenosis with arachnoid cyst (unusual association).

scholarly journals Primary pleural lymphoma of T cell origin in a paediatric patient with a focus on radiological findings – a case report and review of literature

2019 ◽  
Vol 84 ◽  
pp. 353-359
Author(s):  
Amirreza Jahanshahi ◽  
Amirataollah Hiradfar ◽  
Armin Zarrintan ◽  
Mohammad Mirza-Aghazadeh-Attari
Keyword(s):  
Case Report ◽  
T Cell ◽  
Paediatric Patient ◽  
Review Of Literature ◽  
Radiological Findings

scholarly journals Adult Wilms’ Tumour: Case Report and Review of Literature

2016 ◽  
Vol 3 (2) ◽  
pp. 1-7 ◽  
Author(s):  
Sunny Modi ◽  
Kor Woi Tiang ◽  
Stuart Collins ◽  
Po Inglis
Keyword(s):  
Renal Cell Carcinoma ◽  
Case Report ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Renal Tumour ◽  
Review Of Literature ◽  
Wilms Tumour ◽  
Radiological Findings

Wilms' tumour (nephroblastoma) is the most common renal tumour in children. Wilms' tumour in adults is extremely rare and has a poorer prognosis than paediatric Wilms' tumour. It is difficult to differentiate adult Wilms' tumour from renal cell carcinoma based on radiological findings alone. The diagnosis in adults is often serendipitous following nephrectomy for presumed renal cell carcinoma. Because of the paucity of literature, there are no standard protocols for the management of adult Wilms' tumour, and therefore, it is managed as per paediatric Wilms' tumour. Herein, we report the case of adult Wilms' tumour in a 43-year-old man, which was diagnosed unexpectedly following nephrectomy for presumed renal cell carcinoma.

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