Sandbox:Sahar

Familial Mediterranean Fever Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Diagnostic Study of Choice

Study of choice

Familial Mediterranean fever is primarily diagnosed based on the clinical presentation.

The comparison of various diagnostic studies for familial Mediterranean fever

Test	Sensitivity	Specificity
Tel Hashomer criteria	...%	...%
Livneh criteria	...%	...%

[Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity

The Tel Hashomer for diagnosing familial Mediterranean fever

Type	Criteria	Criteria
Major
Minor

Tel Hashomer criteria

[Disease name] may be diagnosed at any time if one or more of the following criteria are met:

• Criteria 1
• Criteria 2
• Criteria 3

The diagnosis of Familial Mediterranean fever is made when at least 2 of the following diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].

References

Management options of Retinoblastoma

Treatment options for Intraocular tumor
Unilateral retinoblastoma	Enucleation followed by chemotherapy Conservative ocular salvage approaches: Chemoreduction with either systemic or ophthalmic artery infusion chemotherapy with or without intravitreal chemotherapy Local treatments (cryotherapy, thermotherapy, and plaque radiation therapy)
Bilateral retinoblastoma	Enucleation for large intraocular tumors, followed by risk-adapted chemotherapy when the eye and vision cannot be saved Conservative ocular salvage approaches when the eye and vision can be saved: Chemoreduction with either systemic or ophthalmic artery infusion chemotherapy with or without intravitreal chemotherapy Local treatments (cryotherapy, thermotherapy, and plaque radiation therapy) EBRT
Cavitary retinoblastoma	Systemic and/or intra-arterial chemotherapy
Progressive or recurrent intraocular retinoblastoma	Enucleation Radiation therapy (EBRT or plaque radiation therapy) Local treatments (cryotherapy or thermotherapy) Salvage chemotherapy (systemic or intra-arterial) Intravitreal chemotherapy
Treatment options for Extraocular tumor
Orbital and locoregional retinoblastoma	Chemotherapy Radiation therapy
CNS disease	Systemic chemotherapy and CNS-directed therapy Systemic chemotherapy followed by myeloablative chemotherapy and stem cell rescue
Trilateral retinoblastoma	Systemic chemotherapy followed by surgery and myeloablative chemotherapy with stem cell rescue Systemic chemotherapy followed by surgery and radiation therapy
Extracranial metastatic retinoblastoma	Systemic chemotherapy followed by myeloablative chemotherapy with stem cell rescue and radiation therapy
Progressive or recurrent extraocular retinoblastoma	Systemic chemotherapy and radiation therapy for orbital disease Systemic chemotherapy followed by myeloablative chemotherapy with stem cell rescue, and radiation therapy for extraorbital disease

Intraocular classifications of retinoblastoma and their features

	International Intraocular Retinoblastoma Classification (IIRC)	Intraocular Classification of Retinoblastoma (ICRB)
Group A (very low risk)	Small intraretinal tumors away from foveola and optic nerve 3mm or smaller in the greatest dimension, confined to the retina Located further than 3 mm from the foveola and 1.5 mm from the optic disc	Tumors ≤ 3 mm (in basal dimension or thickness)
Group B (low risk)	Tumors confined to the retina Not in the group A Tumor-associated subretinal fluid less than 3 mm from the tumor with no subretinal seeding.	Tumors > 3 mm (in basal dimension or thickness) or Macular location (≤ 3 mm to foveola) Juxtapapillary location (≤ 1.5 mm to disc) Additional subretinal fluid (≤3 mm from margin)
Group C (moderate risk)	Local disease with minimal subretinal or vitreous seeding with following characteristics: Discrete Subretinal fluid, present or past, without seeding involving up to one-fourth of the retina Local fine vitreous seeding may be present close to the discrete tumor Local subretinal seeding less than 3 mm (2 DD) from the tumor	Tumor with: Subretinal seeds ≤ 3 mm from tumor Vitreous seeds ≤ 3 mm from tumor Both subretinal and vitreous seeds ≤ 3 mm from retinoblastoma
Group D (high risk)	Diffuse tumor with significant vitreous or subretinal seeding Maybe massive or diffuse Subretinal fluid present or past without seeding, involving up to total retinal detachment The diffuse or massive vitreous disease may include “greasy” seeds or avascular tumor masses Diffuse subretinal seeding may include subretinal plaques or tumor nodules	Tumor with: Subretinal seeds > 3 mm from tumor Vitreous seeds > 3 mm from tumor Both subretinal and vitreous seeds > 3 mm from retinoblastoma
Group E (very high risk)	Presence of any one or more of the following poor prognosis features Tumor touching the lens Tumor anterior to anterior vitreous face involving the ciliary body or anterior segment Diffuse infiltrating retinoblastoma Neovascular glaucoma Opaque media from hemorrhage Tumor necrosis with aseptic orbital cellulitis Phthisis bulbi	Extensive tumor filling >50% globe or with Neovascular glaucoma Opaque media from hemorrhage in the anterior chamber, vitreous or subretinal space Invasion of the post-laminar optic nerve choroid (>2 mm), sclera, orbit, anterior chamber

Groups	Features
Group A	Small intraretinal tumors away from foveola and optic nerve 3mm or smaller in the greatest dimension, confined to retina Located further than 3 mm from the foveola and 1.5 mm from the optic disc.
Group B	Tumors confined to the retina. Not in the group A Tumor-associated subretinal fluid less than 3 mm from the tumor with no subretinal seeding.
Group C	Local disease with minimal subretinal or vitreous seeding with following caracteristics: Discrete Subretinal fluid, present or past, without seeding involving up to one-fourth of the retina Local fine vitreous seeding may be present close to the discrete tumor Local subretinal seeding less than 3 mm (2 DD) from the tumor
Group D	Diffuse tumor with significant vitreous or subretinal seeding May be massive or diffuse Subretinal fluid present or past without seeding, involving up to total retinal detachment The diffuse or massive vitreous disease may include “greasy” seeds or avascular tumor masses Diffuse subretinal seeding may include subretinal plaques or tumor nodules
Group E	Presence of any one or more of the following poor prognosis features Tumor touching the lens Tumor anterior to anterior vitreous face involving the ciliary body or anterior segment Diffuse infiltrating retinoblastoma Neovascular glaucoma Opaque media from hemorrhage Tumor necrosis with aseptic orbital cellulitis Phthisis bulbi

• On microscopic histopathological analysis, carotid body tumor composed of:
  • The chief or paraganglionic cells composing the predominant part of the tumor and contain eosinophilic granular materials and oval or round nuclei.
  • The supporting or sustentacular cells responsible for the chemoreceptor activity of the carotid body
• The characteristic finding of this tumor is:

• Chief cells Arranged in distinctive pattern called cell balls (zellballen)
• Separated by fibrovascular stroma and surrounded by sustentacular cells
• The cytoplasm is pale and diffuse with occasional presence of the eosinophilic granules.
• The nuclei are round to spindle shape.

• The tumor is highly vascular.
• Although there is no well-accepted histologic criteria for the diagnosis of malignant tumors, worrisome histologic features include:
  • Necrosis
  • Extensive vascular or capsular invasion
  • Increased mitotic activity
  • Atypical mitotic figures

Diagnostic algorithm for Infantile onset glyogen storage disease type II

Features on Gross Pathology	Image
Characteristic findings of carotid body tumor, include: Well-circumscribed with psudocapsule The size of the tumor varies greatly and it may be as large as 10 cm The cutting surface is solid with a smooth, rubbery texture||	Contributed by Paweł Kuźniar in wikimedia.commons

Patient with carotid body tumor

History, Physical examination, and evaluation of cnotralateral side

Patients with age < 50 years Patients with multiple paraganglioma Patients with a positive family history

The rest of the patients

SDHD genetic testing

Presence of SDHD mutation

Absence of SDHD mutation

SDHC and SDHB genetic testing

Presence of SDHC/B mutation

Absence of SDHC/B mutation

All the relatives should be evaluated for the presence of paragnaglioma

whole-body 18F-dihydroxyphenylalanine (F-DOPA) positron emission tomography to assess the presence of other paragangliomas

Presence of other paraganglioma

Absence of other paraganglioma

24-hour urine catecholamines and MRI for biochemical screening

surveillance screening every 5 years