neuropsychiatric (2)

8/10/2019 Neuropsychiatric (2)

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. Porphyrias are metabolic disorders,resulting from the deciency of a

specic enzyme in hemebiosynthetic pathway resulting inaccumulation of porphyrins..

These enzyme deciencies areinherited as autosomal dominant,

autosomal recessive or X linked traitsexcept porphyria cutaneous tardawhich is sporadic..


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)eme biosynthesis

*pg iii synthase

+h+o


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CLASSIFICATIONS OF PORPHYRIASDEPENDS ON THE SITE OF EXCESSIVEPORPHYRIN PRODUCTION

They may be :-

rythropoietic -erythropoietic cells of bonemarrow

)epatic -/iver andrythrohepatic- /iver 0 bone marrow

Porphyrias has an incidence of approx 1 in23,333

(t is much more common in $45. 4ithan incidence of 1 in 1333

4omens are more commonly a6ected than


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ERYTHROPOIETIC

7ongenital erythropoietic porphyria

.HEPATIC

8cute intermittent porphyria

)erediatery coproporphyria

'ariegate porphyria

P7T

ERYTHROHEPATICprotoporphyria


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NAME OF ENZYMES

8/8 ehydratase

P9" eaminase

*roporphyrinogensynthetase

*roporphyrinogendecarboxylase

7oproporphyrinogenoxidase

Protoporphyrinogenoxidase

ASSO PORPHYRIAS

Plumboporphyria

8cute intermittent

porphyria 7ongenital erythropoietic

porphyria

P7T

)erediaterycoproporphyria

'ariegate porphyria

rythropoieticprotoporphyria


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5*!%P$:7)(8T!(7;85(


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5euro psychiatric manifestations

typically occur late in the diseaseand these may include

Peripheral

neuropathy- predominantly motor $ensory changes- eg

hy!e"#he"$a, a%e"#he"$aand

a$&'()e*#%$m$#$e" 7raneal nerve dysfunctions and

other cns involvement eg "e$+(%e",,eme$a, ,e)$%$(m A&, !ma


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Porphyrias 7ommonly asso withneuropsychiatric manifestations are

1


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Psychiatric disturbances are present in =3>?3@ patientswith 8(P

(n 1AB2 !%T) proposed that porphyria occurred much

more freCuently in patients with severe neurosis orpersonality disorders

7raneal nerves involvementD iii, vii, x

$eizures are seen over +3@ cases and status epilepticusmay develop


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motional disturbance with anxiety, restlessnessand depression may occur

Psychotic features resembles seizophrenia withpersicutory delusion, auditory hallucinations,social

withdrawland catatonia has been described

7louding of consciousness and confusion mayprogress to delirium with hallucination delirium and

disturbed behavior

$evere attack can progress to a predominantly motorneuropathy with weakness typically beginning in the

proximal muscles , arms and legs


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!eEexes are usually diminised ,though external planterresponse can occur

8utonomic neuropathy which is responsible for many ofsystemic manifestation purpura including vomiting ,

constipation and tachycardia


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'(7T(; %< P%!P):!(8


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'8;P(!F$ ($8$

P%P/ $u6er from porphyria facesymptomps manifested bymythological vampireG..

$kin is sensitive to sunlight

*rine is reddish to purple in color

9ums are shrunken making theteeth more prominent..


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neuropsychiatric (2)

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