96 11 30 Vhl Final

Clinico-Pathological Conference 主講者 : 陳乃釧指導者 : 韋建華、張文彬 96-11-30

Presenting Complaint ,[object Object]

History of Present Illness ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Past medical history ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Pedigree of the patient Stroke 70y/o Heart attack 60y/o 90y/o emphysema

Physical examination ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],Physical examination 4 4 4 4 Muscle power DTR 1+ 2+ 2+ 2+

Impression ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],Diagnostic workup

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Diagnostic workup ~ MRI of abdomen

[object Object],[object Object],[object Object],[object Object],Diagnostic workup ~ MRI of brain

[object Object],[object Object],[object Object],[object Object],[object Object],Diagnostic workup ~ MIBG

Admission diagnosis ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Course in the ward ,[object Object],[object Object],[object Object]

Course in the ward ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Pheochromocytoma ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Dx criteria 1.≧6 cafA au lait spots 2.≧2 cutaneous neurofibromas 3.≧2 benign iris hamartomas (Lisch nodules) 4.One optic nerve glioma 5.Dysplasia of sphenoid bone 6.Thinning of the cortex of long bones 7.First-degree relative with NF1 1.Pheochromocytoma 20%, Mean age: 20’s, multifocal, bilateral disease or metachronously 2.Hemangioblastomas(CNS) 3.Liver and kidney cysts 4.Cyst and endocrine tumors of the pancreas 1.Pheochromocytoma 2.Extraadrenal tumors of chromaffin-positive cells of the parasymptathetic nervous system ,[object Object],[object Object],[object Object],[object Object],1.Pheochromocytoma :50% 2.Medullary thyroid carcinoma: 100% 3.Hyperplasia of the parathyroid gland Von Hippel Lindau Disease Familial paraganglioma Neurofibromatosis(NF1) MEN II

Correlation to the patient ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Final diagnosis ,[object Object],[object Object],[object Object],[object Object],[object Object]

Von Hippel Lindau disease (VHL) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],VHL Main complication

VHL gene ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

VHL pathogenesis HIF: hypoxia-inducible transcription factor

[object Object],[object Object],[object Object],[object Object],Course in the ward

Brain-stem and spinal cord hemagioblastomas Autopsy Result

Findings in the Central Nervous System at Autopsy (Luxol Fast Blue–Hematoxylin and Eosi ) Cross section of the medulla of the brain stem in which edema is apparent ipsilateral to a small fourth ventricular hemangioblastoma (arrow). The dotted line indicates the midline, highlighting the larger size of the left side of the brain stem. ,[object Object],[object Object],[object Object],[object Object]

Findings in the Central Nervous System at Autopsy (Luxol Fast Blue–Hematoxylin and Eosi Edematous areas of the brain stem characterized by reactive astrocytes and small vacuolated regions .

Findings in the Central Nervous System at Autopsy (Luxol Fast Blue–Hematoxylin and Eosi Prominent stromal cells, notable for their prominent vacuolated cytoplasm, as well as a delicate capillary network in the thoracic spinal cord hemangioblastoma.

Findings in the Central Nervous System at Autopsy (Luxol Fast Blue–Hematoxylin and Eosi A cross section of the thoracic spinal cord in which a small dorsal hemangioblastoma (arrow) is associated with a local mass effect and distortion of the adjacent cord.

Autopsy result ~ Cardiac histology

Genetic testing result ,[object Object],[object Object]

Anatomical Diagnosis ,[object Object]

96 11 30 Vhl Final

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96 11 30 Vhl Final