© Department of Continuing Medical Education, Christian Medical College, Vellore
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Learning Cases May 2005

STUDY 1: GENETICS SYNDROME OF THE MONTH

Courtesy: Department of Clinical Genetics, CMC, Vellore.

Click on the picture to enlarge.

1. Describe the clinical features.

   Preauricular ear tags in a line between the front of the ear and the side of the mouth.
   Macrostomia
   Facial asymmetry
   
   

2. What is this syndrome?

   Goldenhar syndrome (OMIM No 161240).
   
   

3. What are the other names by which this condition is also referred to?

   The preferred name: first and second branchial arch syndrome if epibulbar dermoids are absent.
   
   Synonyms:
   Facioauriculovertebral syndrome(FAV sequence)
   Hemifacial microsomia
   Oculoauriculovertebral (OAVS).

4. What do you know about this syndrome?

   More about this syndrome: This is a birth defect involving first and second branchial arch derivatives. The phenotype is highly variable. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.
   
   

5. What are the associated defects?

   Associated defects: Cervical vertebral anomalies are common and cardiac defects have been reported in 5-58% of cases - Kumar et al., (1993).Both of these should be looked for.
   
   

6. What is the differential diagnosis?

   Differential diagnosis: Treacher Collins syndrome; Nager syndrome; Acrofacial dysostosis.
   
   

7. How would you manage this condition?

   Management:
   Depends on the defects and symptoms.
   Genetic counseling indicated
   
   

Acknowledgement: Submitted by Dr Sumita Danda, Clinical Genetics Unit, CMC, Vellore.

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STUDY 2: RADIODIAGNOSIS - CASE OF THE MONTH

Spot the diagnosis?

Courtesy: Department of Radiodiagnosis, CMC, Vellore.

HISTORY

A 35 year old man presented with ptosis, chemosis and mild conjunctival congestion.

INVESTIGATIONS

CT scan of skull





1. Describe the findings in CT scan.

   Well defined ring enhancing lesion with central hypodensity in the right retro-orbital region indenting the medial rectus and optic nerve.

2. What is your diagnosis?

   Right retro orbital cystecercosis.

3. What is your differential diagnosis?

   Developmental cysts, parasitic cysts (inc. hydotid), macocele, simple cysts and abscesses, optic n.glioma, metastasis.
   
   

4. How would you manage this patient?

   Medical therapy -> corticosteroids 1 mg/kg in tapering dose, Albendazole 15 mg/kg. +/- surgical excision -> due to proximity to optic n. and dangers of inflammation extending to it.

Acknowledgement: Submitted by Dr. Sudheer, Department of Radiodiagnosis, CMC, Vellore.

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