Society of General Internal Medicine | SGIM



MCQ: Which of the following is the most likely?diagnosis?A. Von Hippel-Lindau disease B. Multiple sclerosisC. Neuromyelitis optica ( HYPERLINK "" Devic's disease)D. Wyburn-Mason syndromeMCQ Answer: A. Von Hippel-Lindau diseaseFigure 2A. a retinal arteriovenous malformation; 2B. Upper visual field defect in the same patientDiscussion:Von Hippel-Lindau disease (VHL) is an autosomal dominant disease characterized by benign and malignant tumors in multiple organs. 21% to 72% of VHL patients have central nervous system hemangioblastomas with average age of onset 25-38, range 8-61.1,2 Central nervous system hemangioblastomas could be asymptomatic or with symptoms of headache, gait disturbance (cerebellar hemangioblastomas), or sensory loss/motor weakness (spinal hemangioblastomas). Retinal capillary hemangioblastomas develop in more than one-half of VHL patients with the age of onset ranging from the first to the ninth decade.1,2 Large retinal hemangioblastomas could cause decreased visual acuity with resulting exudations, hemorrhage or retinal detachment. Other tumor types - including neuroendocrine or visceral tumors such as pheochromocytoma or renal cell carcinoma - may occur at later ages in VHL patients (pheochromocytoma: mean age of manifestation 20-29, range 5-62; renal cell carcinoma: mean 40-45, range 20-69)2. In fact, 10-50% of deaths in VHL patients are due to renal cell carcinoma, and this is one of the most feared complications of the disease.1 Pancreatic cysts or neuroendocrine tumors, epididymal lesions, and endolymphatic sac tumors of the inner ear may also present throughout the course of an individual’s lifetime. Therefore, age of onset of screening for various complications varies in VHL patients. Ocular examination should be done annually after diagnosis of VHL. Tests of catecholamine metabolites need be arranged yearly starting at 5 years of age; imaging of the CNS and abdomen should be performed at least once at 5 to 14 years of age and once every 1 to 2 years after the age of 15 years.2B. Multiple sclerosis is an inflammatory demyelinating disease. It usually occurs in young adults, especially women. Symptoms may include sensory disturbances (tingling or numbness affecting a variety of body parts), muscle weakness, cerebellar or cranial nerve dysfunction (dysarthria, unsteady gait), vision loss and electric-shock sensations elicited with neck flexion (Lhermitte’s sign). Optic neuritis is a common initial manifestation of multiple sclerosis and is characterized by a unilateral decrease in vision accompanying eye pain that is accentuated by ocular movements.3 Symptom exacerbation with elevated body temperature can be seen and is known as Uhthoff's phenomenon. MRI shows cerebral or spinal demyelinating plaques, which are high intensity on T2-weighted images. C. Neuromyelitis optica (NMO) is an autoimmune demyelinating disease that occurs preferentially in women. Patients might suffer back pain (30-50%), symmetric weakness of lower extremities (50%), paresthesias below the level of the lesion (80-95%), and bladder dysfunction due to transverse myelitis (almost 100%). 4 Decreased vision, impaired visual field testing and ocular pain because of optic neuritis usually occur sequentially with transverse myelitis.4,5 Unilateral optic neuritis is more common in NMO patients, though recurrent or simultaneous bilateral optic neuritis may also?be seen in NMO.4,5 Spinal MRI typically shows transverse myelitis spanning three or more contiguous?vertebral?bodies. The NMO-IgG (aquaporin-4) assay has a 91% specificity for patients of NMO, which can help distinguish NMO from multiple sclerosis.5 D. Wyburn-Mason syndrome is a congenital,?sporadic disease with arteriovenous malformations involving the ipsilateral optic disc or retina and midbrain. Some patients have facial angiomas in the distribution of the trigeminal nerve. The most common symptoms of Wyburn-Mason syndrome are progressive, painless visual loss, followed by neurologic symptoms such as hemiparesis.6 If the retinal arteriovenous malformation is large enough, patients’ visual acuity and visual field are impaired (Figure 2A. a retinal arteriovenous malformation; 2B. Upper visual field defect in the same patient). Even in patients with incidental findings of retinal arteriovenous malformations, brain MRI should be arranged, especially when the size of retinal arteriovenous malformations is large.7 Some patients might also have mandibular arteriovenous malformations, which could lead to severe bleeding after tooth extraction.6ReferencesCouch V,?Lindor NM,? HYPERLINK "" Karnes PS,?Michels VV. von Hippel-Lindau Disease. Mayo Clin Proc. 2000;75:265–272Binderup ML1,? HYPERLINK "" Bisgaard ML,? HYPERLINK "" Harbud V, ? HYPERLINK "" M?ller HU,? HYPERLINK "" Gimsing S,?Friis-Hansen L,?et al. Von Hippel-Lindau disease?(vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition. Dan Med J.?2013;60:B4763.Mats S?derstr?m. Optic neuritis and multiple sclerosis. Acta Ophthalmol. 2001;19:223-227Awad A,? HYPERLINK "" Stüve O. Idiopathic transverse myelitis and neuromyelitis optic: clinical?profiles,?pathophysiology?andtherapeutic?choices. Curr Neuropharmacol.?2011;9:417-428.?Wingerchuk DM,?Lennon VA,?Lucchinetti CF,?Pittock SJ,?Weinshenker BG. The?spectrum?of?neuromyelitis optica. Lancet Neurol. 2007;6:805-815.Jiarakongmun P,?Alvarez A,? HYPERLINK "" Rodesch G, Lasjaunias P. Clinical course and angioarchitecture of cerebrofacial?arteriovenous?metameric?syndromes. Three demonstrative cases and literature review. Interv Neuroradiol. 2002;8:251–264.Heimann H,? HYPERLINK "" Damato B. Congenital?vascular malformations?of the?retina?and?choroid. Eye. 2010;24:459-467. ................
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