Download Kallman syndrome

Abstract No:
eEdE-35
Submission Number:
2595
Correspondence:
[email protected]
AMMAR CHAUDHRY,
MARYAM
MD
GUL, MD
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CHIEF COMPLAINT: FEELING OF DISEQUILIBRIUM AND HEARING LOSS
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HISTORY OF PRESENT ILLNESS: 48 YEAR OLD MALE PRESENTED WITH
INTERMITTENT EAR HEAVINESS AND HEARING LOSS IN BOTH EARS FOR
APPROXIMATELY 2 YEARS. HE WAS TOLD HE HAD OTOSCLEROSIS LEADING TO
CONDUCTIVE HEARING LOSS. PATIENT WAS REFERRED TO AN ENT WHO
PERFORMED A STAPEDECTOMY AND PROSTHESIS PLACEMENT. POST OP PATIENT

Physical Exam: Patient appears well developed/well nourished and in no
apparent distress.

VITAL SIGNS: B/P: 128/82, pulse 92, temperature 98.5 ºF,
respiratory rate 17, O2 sat of 100% on room air.

HEENT: Anicteric sclera, no conjunctival pallor, difficult to
visualize tympanic membrane, no nasal ulcers, no mucosal
inflammation, mucosa was moist without oral ulcers. Poor
dentition. numerous caries.
THE PATIENT WAS REFERRED TO
RHEUMATOLOGY FOR WORKUP OF AN AUTOIMMUNE PROCESS. HE COMPLAINS OF
WORSENING SYMPTOMS BUT DENIES PAIN, FEVERS, CHILLS, NAUSEA, VOMITING,
ARTHRALGIAS AND RASHES.

SKIN: Warm and dry, no rashes noted.

LUNGS: Clear to auscultation, no wheezing and rales

HEART: S1, S2, regular rate and rhythm.
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PAST MEDICAL/SURGICAL HISTORY: BILATERAL OTOSCLEROSIS AND ASTHMA

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MEDICATIONS: ADVAIR 100 MCG-50 MCG/DOSE POWDER FOR INHALATION,
CEFUROXIME AXETIL 500 MG TABLET, CIPRODEX 0.3 %-0.1 % EAR DROPS,
MONTELUKAST 10 MG TABLET AND PROVENTIL HFA 90 MCG.
ABDOMEN: Soft, nontender, nondistended. No ascites or
organomegaly was noted.

EXTREMITIES: No clubbing, cyanosis, or edema

MUSCULOSKELETAL: With in normal limits
DEVELOPED EXCESSIVE PROLIFERATION OF GRANULATION TISSUE, CANAL
STENOSIS, AND HAD AN EPISODE OF FACIAL PARESIS, AS WELL AS EAR PAIN,
COMPLETE LEFT SIDED HEARING LOSS, AND A FEELING OF DISEQUILIBRIUM.
CT
AND MRI IMAGING REVEALED COMPLETE OPACIFICATION OF THE COCHLEA AND
LABYRINTH, A DISPLACED PROSTHESIS, AND EROSIONS OF THE OSSICULAR AND
TEMPORAL BONES. HE WAS TREATED WITH HIGH-DOSE CORTICOSTEROID WITH
MILD IMPROVEMENT IN SYMPTOMS. THE PATIENT RETURNED TO THE OPERATING
ROOM FOR TYMPANOMASTOIDECTOMY.
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COMPREHENSIVE METABOLIC PANEL : SODIUM 144, POTASSIUM 4.6, CHLORIDE 105, BICARB 8, BUN
15, CREATININE 1.22, GLUCOSE 96.
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CBC : WHITE COUNT 7.2, HEMOGLOBIN 16.2, HEMATOCRIT 47.0, PLATELETS 283,000.
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ANA/MPO/PR3/ANTI-SMITH/RNP/RF/CCP/ESR WERE NEGATIVE. IGG WAS SLIGHTLY LOW, BUT OTHER
IG'S NORMAL. ACE LEVEL NORMAL.
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SERUM IGG: 786 (694-1618 MG/DL), SERUM IGA: 133 (81-463 MG/DL), SERUM IGM 37 ( )(48271MG/DL)
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IGG SUBCLASS1: 432MG/DL (382-929MG/DL), IGG SUBCLASS2: 266MG/DL (241-700MG/DL) IGG
SUBCLASS3: 77MG/DL(22-178MG/DL) IGG SUBCLASS4: 28.4MG/DL(4.8-8.6MG/DL).
Fig: 1
Fig: 2
Fig: 3
Coronal and Axial T1FS w/ contrast: wreveal abnormal soft tissue mass with post-contrast enhancement within the left tympanomastoid cavity and petrous apex air cells which extends into the external auditory canal. There is
abnormal enhancement seen within the fundus of the left IAC and membranous labyrinth. Nerves VII and VIII complexes appear grossly intact. Abnormal signal is seen in the cochlea, vestibule and semicircular canals
demonstrating T2 hypointensity and mild T1 hyperintensity with post contrast enhancement.
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H & E of biopsy specimens indicated a
florid inflammatory response composed of
mononuclear cells with areas of fibrous
reaction.
• Immunohistochemically, 60 % of
plasma cells stained positive for
IgG4 subtype.
• Immunohistochemically showing
IgG4 staining.
• Ill-defined hyperdense mass is seen in the left orbit with
infiltration and obliteration of the intra-orbital fat. There
is left eye proptosis and thickening of the
myotendinous junction of the extra-ocular muscles. The
mass appears to extend posteriorly and involves the
cavernous sinus
• There is sclerosis of the orbital walls, ipsilateral maxilla,
mandible and skull base
• There is suggestion of extension of this mass in the left
temporal fossa as well.
• Ill-defined hyperdense mass is seen
in the left orbit with infiltration and
obliteration of the intra-orbital fat.
There is left eye proptosis and
thickening of the myotendinous
junction of the extra-ocular muscles.
The mass appears to extend
posteriorly and involves the
cavernous sinus
• There is sclerosis of the orbital walls,
ipsilateral maxilla, mandible and
skull base
• There is suggestion of extension of
this mass in the left temporal fossa
as well.
• Ill-defined hyperdense mass is seen in
the left orbit with infiltration and
obliteration of the intra-orbital fat.
There is left eye proptosis and
thickening of the myotendinous
junction of the extra-ocular muscles.
The mass appears to extend posteriorly
and involves the cavernous sinus
• There is sclerosis of the orbital walls,
ipsilateral maxilla, mandible and skull
base
• There is suggestion of extension of this
mass in the left temporal fossa as well
SARCOIDOSIS
(A-D): Magnetic resonance images show normal
intraorbitaland intraocular contents (globe) in axial and
coronal T1WI (A), (C) withbetter anatomic detail, T2WI (B)
T2WI (D) with more contrast resolutionfor the soft
tissues. Apex is very well visualized (asterisk)
Hande PC, Talwar I. Multimodality imaging of the orbit. Indian J Radiol Imaging 2012;22:227-39
POLYANGIITIS WITH GRANULOMATOSIS
(FORMERLY WEGNERS GRANULOMATOSIS)
Computed tomography (CT) scans of the sinuses .
A, Normal maxillary sinuses in a recently diagnosed Wegener’s granulomatosis
(WG) patient. B, Sinus CT scan of a patient with long-standing WG: nasal septal
deviation to the left, destruction of the medial walls of the right maxillary sinus,
opacification of both sinuses with soft tissue densities (arrows), and neoossification of all maxillary bony structures due to chronic inflammation.
Ferri's Clinical Advisor 2015 505-506.e1
Clinical and Imaging Features Predictive of Orbital Granulomatosis with Polyangiitis and the Risk of Systemic Involvement, 2014-0601Z, Volume 121, Issue 6, Pages 1304-1309,
A, Soft-tissue axial computed tomography showing left proptosis due to a soft-tissue mass
extending along the medial wall and floor of the left orbit, occupying the extraconal and intraconal
compartments, with involvement of the neighboring extraocular muscles. Note the site of prior left
dacryocystorhinostomy ( arrow). B, Coronal reformats show the soft tissue mass extending along
the orbital floor and medial wall and completely enveloping the inferior rectus and inferior aspect of
the medial rectus. The infraorbital groove ( arrow) is widened and filled with enhancing soft tissue
density material, suggestive of infiltration.
Esthesioneuroblastoma arises from the olfactory epithelium in the
nasal vault; key dx feature is cyst at tumor-brain junction best seen
on post-contrast images (red arrow)
Kallman syndrome is a rare genetic
disorder of hypogonadotropic
hypogonadism (isolated GnRH
http://radiopaedia.org/cases/kallmann-syndrome
deficiency) with anosmia.
NOTE: Seizure activity in lateral
olfactory area may produce
"uncinate fits: hallucinations of
taste & odor
46 y/o M with head trauma (Cribriform plate fx or anterior temporal lobe injury)  Anosmia
PPF
Rotundum
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IGG4 RELATED DISEASE
FIRST, RECOGNIZED IN THE EARLY 2000S FOR ITS PRESENTATION AS A FORM OF AUTOIMMUNE PANCREATITIS IT IS NOW KNOWN THAT THE DISEASE CAN AFFECT
NEARLY EVERY ORGAN SYSTEM
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IGG4 RELATED DISEASE IS A SYSTEMIC INFLAMMATORY PROCESS WITH A SPECTRUM OF PRESENTATION DEPENDING ON SPECIFIC ORGAN INVOLVEMENT.
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SIGNIFICANT PROPORTION OF PATIENTS HAVE YEARS OF ASYMPTOMATIC DISEASE INVOLVEMENT UNTIL THEY PRESENT WITH SIGNS OF ORGAN INJURY
SECONDARY TO COMPRESSIVE MASS LESIONS.
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AFFECTED ORGANS SHARE HISTOPATHOLOGIC FINDINGS CHARACTERIZED BY LYMPHOPLASMACYTIC INFILTRATE RICH IN IGG4 CELLS, AND FIBROSIS IN A
“STORIFORM” PATTERN RESULTING IN TUMOR LIKE SWELLING.
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OTIC INVOLVEMENT IS SCARCELY REPORTED IN THE LITERATURE PERHAPS BECAUSE AFFECTED PATIENTS ARE LABELED AS HAVING AN “INFLAMMATORY
PSEUDOTUMOR”.
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IGG4 RELATED OTIC AND ORBITAL DISEASE IS AN IMPORTANT CONSIDERATION IN PATIENTS PRESENTING WITH AGGRESSIVE, EROSIVE DISEASE OF CRANIAL AND
FACIAL BONES.
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RECOGNIZING THIS PRESENTATION OF IGG4 RELATED DISEASE IS CRITICAL TO PREVENT END-ORGAN DAMAGE
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EARL THERAPY IS APPEARS TO BE MORE SUCCESSFUL IN ACHIEVING DISEASE REMISSION, DECREASE RECURRENCE AND IMPROVED QUALITY OF LIFE
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CONSISTENT WITH PREVIOUS STUDIES OUR CASE CONFIRMS THAT SERUM IGG4 LEVELS ALONE ARE A POOR DIAGNOSTIC TEST FOR THIS DISEASE PROCESS. RATHER,
THE SERUM LEVELS ARE BEST UTILIZED IN CONJUNCTION WITH CLINICAL SUSPICION ON THE BASIS OF HISTORY AND PHYSICAL EXAM, IMAGING FINDINGS, AND
HISTOPATHOLOGICAL FINDINGS INCLUDING IMMUNOHISTOCHEMICAL STAINING FOR IGG4 CELLS.
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PSEUDOTUMOR IS DIAGNOSIS OF EXCLUSION
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ATYPICAL ONSET, POOR RESPONSE, OR RECURRENCE SHOULD PROMPT BIOPSY FOR CONFIRMATION
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CONSIDER OTHER SYSTEMIC CAUSES WITH BILATERAL, MULTIFOCAL, LACRIMAL, OR APICAL INVOLVEMENT
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STONE JH, ZEN Y, DESHPANDE V. IGG4-RELATED DISEASE. N ENGL J MED 2012; 366: 539–551.
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SAEKI T, NISHI S, ITO T, YAMAZAKI H, MIYAMURA S, EMURA I, ET AL. RENAL LESIONS IN IGG4-RELATED SYSTEMIC DISEASE. INTERN MED.
2007;46(17):1365–71.
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D TAKAGI, Y NAKAMARU, S FUKUDA ET AL. OTOLOGIC MANIFESTATIONS OF IMMUNOGLOBULIN G4-RELATED DISEASE. ANNALS OF OTOLOGY,
RHINOLOGY. 2014 MAR 28.
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WALLACE ZS, KHOSROSHAHI A, JAKOBIEC FA, DESHPANDE V, HATTON MP, RITTER J, ET AL. IGG4-RELATED SYSTEMIC DISEASE AS A CAUSE OF
“IDIOPATHIC” ORBITAL INFLAMMATION, INCLUDING ORBITAL MYOSITIS, AND TRIGEMINAL NERVE INVOLVEMENT. SURV OPHTHALMOL 2012; 57: 26–
33.
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WALLACE ZS, KHOSROSHAHI A, JAKOBIEC FA, DESHPANDE V, HATTON MP, RITTER J, ET AL. IGG4-RELATED SYSTEMIC DISEASE AS A CAUSE OF
“IDIOPATHIC” ORBITAL INFLAMMATION, INCLUDING ORBITAL MYOSITIS, AND TRIGEMINAL NERVE INVOLVEMENT. SURV OPHTHALMOL 2012; 57: 26–
33.
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RAUCH SD, RUCKENSTEIN MJ. AUTOIMMUNE INNER-EAR DISEASE. IN: CUMMINGS CS, HAUGHEY BH, THOMAS JR, HARKER LA, FLINT
PWCUMMINGS OTOLARYNGOLOGY: HEAD AND NECK SURGERY. 4TH ED. PHILADELPHIA (PA): ELSEVIER MOSBY; 2005. PP. 2926-2933.
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GUMA, M. & FIRESTEIN, G. S. IGG4-RELATED DISEASES. BEST PRACT. RES. CLIN. RHEUMATOL. 26, 425–438 (2012).