Case history: A 29-year-old female presented in emergency department with recently aggravated headache and vomiting associated with difficulty in walking for seven days.
Case history: A 29-year-old female presented in emergency department with recently aggravated headache and vomiting associated with difficulty in walking for seven days. There is a past history of complete loss of vision in the left eye. No significant family history. No episodes of seizures in the past.
On examination, she was mentally alert, oriented to time, place and person. Her neurological examinations were normal except positive Romberg's test and papilloedema. No neurocutaneous markers were seen. MRI was advised to rule out intracranial pathology.
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Figure 1:
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Figure 2:
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Figure 3:
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Figure 4:
MRI of the brain revealed a large cystic lesion with pial based intensely enhancing mural nodule in right cerebellar hemisphere causing mass effect over the fourth ventricle (Figures 1, 2 and 3). There is intensely enhancing lesion in posterior chamber of left eye ball (Figure 4).
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Figure 5:
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Figure 6:
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Figure 7:
MRI of the spine post contrast sagittal section (Figure 5) revealed multiple pial based intensely enhancing nodule along the dorsal spinal cord. MRI abdomen coronal (Figure 6) and axial section (Figure 7) revealed multiple cysts in pancreas and both kidneys
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Specimen A
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Slide B
Gross pathological specimen (A) of the cerebellar lesion showing cystic changes and mural nodule, High power microscopic image (Slide B) shows proliferating vascular capillaries and adjacent vacuolated cell suggestive of hemangioblastomas.
Diagnosis: Von Hippel-Lindau Syndrome
Autosomal dominant multisystem disease caused due to deletion or nonsense mutations of the von Hippel-Lindau tumor suppressor (VHL) gene on chromosome 3p25.3 and is characterized by cerebellar spinal hemangioblastomas, retinal hemangioma, pancreatic and renal Cysts, renal clear cell carcinomas, pheochromocytomas, and islet cell tumors of the pancreas.
Surgical excision of lesions is the possible mainstay of therapy. Photocoagulation and cryotherapy of retinal lesions.
Lalit Nirwan, MD, resident radiodiagnosis, KG Hospital and Post Graduate Medical Institute, Coimbatore, India
Thanks to Shaheer Ali, MD
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