Kallman’s Syndrome

OLFACTORY

ANOSMIA—ABSENCE OF OLFACTION

-3% DISABILITY

SAFETY ISSUES—RANCID FOOD, SMOKE, CHAMICALS, TOXINS

TASTE (90%)

ACUTE ANOSMIA

ENDOSCOPY

AST (ALCOHOL SNIFF TEST)

NASAL STEROIDS X 8 WEEKS

IF NORETURN TO FUNCTION—-THIN CUT CT SCAN / CORONAL

PAROSMIA = PHANTOSMIA = CHANGES

DYSOSMIA = UNPLEASANT CHANGES

CACOSMIA (KAKOSMIA) = FECAL SMELL WHEN NONE IS PRESENT

 

OLFACTORY NEUROBLASTOMA–

ESTHESIONEUROBLASTOMA, ESTHESIONEUROEPTHELIOMA OLFACTIF, NEUROESTHESIOMA

ONLY -300 CASES REPORTED

IN DIFFERENTIAL FOR CONG NASAL MASS

OF NEUROECTODERMAL ORIGIN (NEUROCREST CELLS)

+ S100, +NEURON SPECIFIC ENOLASE

HISTO–PSEUDOROSETTES, SHEETS, OR CLUSTERS

PRESENT WITH SINUSITIS LIKE SYMPTOMS

VERY VARIABLY AGRESSIVE

MALE = FEMALE

BIMODAL INCIDENCE (11-20, 51-60)

BARNES (HISTO CLASSIFICATION)

40% NEUROCYTOMA–SHEETS OF CLUSTERS

40% NEUROEPITHELIOMA—TRUE ROSETTES

20% NEUROBLASTOMA–PSEUDOROSETTES

KADISH (CLINICAL CLASSIFICATION)

A–NC ONLY 100% 5 YEAR SURVIVAL

B–NC AND PARANASAL SINUSES 75% 5 YEAR SURVIVAL

C–BEYOND 10-20% 5 YEAR SURVIVAL

Rx SURGERY (CRANIOFACIAL RESECTION) AND POST OP RT +/- CHEMO

LEIOMYOSARCOMA

SMOOTH MUSCLE NEOPLASM THOUGHT TO ORIGINATE FROM THE WALLS OF BV’S

MENINGIOMA

USUALLY OF THE ARACHNOID CELLS

USUALLY ADJACENT BONEY HYPEROSTOSIS

= 20% OF CNS NEOPLASMS

ONLY 2% ECTOPIC

2/100,000, FEMALE 2:1, INCREASED INCIDENCE WITH AGE AND RT EXPOSURE

PRIMARILY MET TO LUNGS

CLASSIC PATH: PSAMMOMA BODIES (LIKE PAPILLARY THYROID CA)

FOUR HISTO PATTERNS: SYNCYTIAL(POSYGONAL), TRANSITIOAL(PSAMMOMATOUS), FIBROUS, ANGIOBLASTIC

+ S-100, VIMENTIN, EMA(EPITHELIAL MEMBRANE ANTIGEN)

Rx—-SURGERY, RU-486 (PROGESTERONE INHIBITOR) MAY HELP

FOSTER-KENNEDY SYNDROME(SPHENOID MENINGIOMA OF THE OLFACTORY OR OPTID GROOVE)

IPSI OPTIC ATROPHY–MARCUS GUN PUPIL

CONRALATERAL PAPILLEDEMA (ICP FROM MASS EFFECT)

CAN PRESENT WITH ATYPICAL BEHAVIOR AND PERSONALITY CHANGES AND ANOSMIA/PAROSMIA

 

KALLMAN’S SYNDROME

AUTO D

VARIABLE PENETRANCE

ANOSMIA, CONG. HYPOGANADOTROPIC EUNICHOIDISM, RENAL ABNL

+/- DEAFNESS, DM, MIDLINE FACIAL DEFECTS, CRYPTORCHIDISM

(AGENESIS OF OLFACTORY BULBS—SEEN ON MRI AXIAL SCANS, HYPOTHALAMUS, AND OLFACTORY EPITHELIUM)

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