Lalit Nirwan, MD

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.

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).

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

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.

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

Articles

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. 

Von Hippel-Lindau Syndrome

Clinical History: A 7-year-old girl presented with difficulty breathing for last three months and mild dull aching pain on left side. She was referred to the Radiology Department for evaluation.

Chest radiograph revealed a complete radiopaque left hemithorax with gross mediastinal and tracheal shift toward ipsilateral left side, with loss of lung volume, crowding of ribs and compensatory hyperinflation and herniation of right lung.

Contast enhanced Computed Tomography of thorax was done.

Contrast enhanced CT, axial and coronal section of thorax, shows complete absence of left lung with gross mediastinal and cardiac shift toward the left side. Right lung shows compensatory hyperinflation with herniation toward left side. Images revealed single right dilated pulmonary artery, absence of left pulmonary artery. Ascending and descending aorta are visualized. 

CT of thorax, lung window confirms complete absence of left lung parenchymal tissue.

Volume rendered reconstructed images shows complete absence of left lung, compensatory enlarged right lung with hyperinflation and herniation, single right pulmonary artery and rudimentary blind ended left main bronchus.

Coronal reconstructed CT images revealed associated D10 hemivertebra.

Discussion: This is a rare congenital anomaly, occurring in 1 in 1,000,000. 
Agenesis - Complete absence of bronchus and lung parenchyma 
Aplasia - Rudimentary bronchus with complete absence of parenchyma 
Hypoplasia - Presence of variable amounts of bronchial tree, pulmonary parenchyma and vasculature

Developmental causes: Intrauterine compressions - Extrathoracic compressions oligohydraminos, fetal ascitis; Thoracic cage compressions - Thoracic bone dysplasia, muscular disease; Intrathoracic compression - Diaphragmatic defect

Lalit Nirwan, MD, resident radiodiagnosis, KG Hospital and Post Graduate Medical Institute, Coimbatore, India

Thanks to Drs. G Bakthavathsalam, MS; Kapisoor Singh, MD, Shaheer Ali, MD, Pugazhenthi DMRD 

A 7-year-old girl presented with difficulty breathing for last three months and mild dull aching pain on left side. She was referred to the Radiology Department for evaluation.

Lalit Nirwan, MD

Articles

Von Hippel-Lindau Syndrome

Unilateral Pulmonary Aplasia