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CASE REPORT ABSTRACT

Title – lipoid proteinosis with epilepsy

Authors – SAHAS REDDY JITTA (FINAL YEAR STUDENT ,OSMANIA MEDICAL


COLLEGE,INDIA)

Introduction: Lipoid proteinosis is a rare autosomal recessive


genodermatosis characterized by the deposition of an amorphous
hyaline material in the skin, mucosa, and viscera. Skin and mucous
membrane changes become apparent clinically, and the disease
typically follows a slowly progressive, yet often benign, course. Virtually
any organ may be involved, but visceral involvement rarely leads to
clinically significant consequences. The exceptions are involvement of
the central nervous system and respiratory tract, which may result
in seizures and airway obstruction, respectively. Lipoid proteinosis
has been linked to mutations in the gene encoding extracellular matrix
protein 1 (ECM1). [1, 2, 3] Although lipoid proteinosis is most prevalent
among the German immigrants to South Africa, it is seen worldwide.

Case presentation :I present a case of 25 Year old Ms.S presented with chief
c/o Seizures of 3 years duration. Semmiology : GTCS semiology ,Upward rolling
of eyeballs,tongue bite present .No h/o urinary incontinence .Each episode
lasts 2-3 minutes with LOC followed by postictal confusion for 10 min. No h/o
aura or hallucinations. No h/o staring episodes or complex automatisms. H/o
Myoclonic jerks (which worsened with eptoin when she was treated outside).
Her current medications include tablet Encorate 300 mg Bid but her seizures
are not well controlled.No h/o head trauma. No h/o fever with ear discharge.
No h/o fever with neck pain,vomitings,altered sensorium. H/o voice hoarsness
since childhood . There is no h/s/o other cranial nerve dysfunction or bladder
dysfunction. No h/o weakness or sensory loss. No h/o swaying while walking or
cotton wool sensations or wash basin attacks. Past History: She was diagnosed
with a chronic skin disease(maculo papular skin lesions which initially started
as bullous lesions after sustaining trauma or pressure ). Biopsy was reported to
be s/o Lipoid proteinosis. Family history : she was born out of 30
consanguineous marriage. Other siblings are not affected. Her Menstrual cycles
are regular and she is unmarried. She desnot have any prior h/o drug
allergies,blood transfusions,surgeries. Her apetite is good.She eats a mixed
diet.Her sleep is adequate.There are no addictions. General examinations
revealed multiple papular lesions around upper and lower lid margins on both
sides.Several maculopapular lesions on both hands,around mouth.Scaly lesions
on palmar aspects on both hands.She has macroglossia. Nervous system
examination was unremarkable except for hoarse voice. Investigatrions:VLS
revealed thickened vocal cords,bulbous arytenoids.EEG was normal awake
record. MRI Brain revealed bilateral near symmetrical T1,T2 hypointense
lesions in amygdala and medial temporal lobes suggestive of calcifications.

Discussion : This case illustrates prompt and accurate diagnosis LIPOID


PROTEINOSIS WITH EPILEPSY. Levetriacetam 500 mg Bid was added to her
current therapy for seizure control.