Post on 08-Apr-2018
8/7/2019 CASE PRESENTATION-ATAXIA
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8/7/2019 CASE PRESENTATION-ATAXIA
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THEKRA
&
MITOCHONDRIAL CYTOPATHY?
8/7/2019 CASE PRESENTATION-ATAXIA
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Nystagmus,dysartheria ,difficultyswallowing,frequent choking and abnormalbreathing pattern developed gradually over the
following two yearsOn 18-2-2011 ,patient developed a febrile illnessdiagnosed as chest infection but,unfourtionatelyshe developed an apneoic attack and brought to
ER arrested,CPR was done for her and she wasadmitted to PICU on MV
8/7/2019 CASE PRESENTATION-ATAXIA
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In regarding her development;Thekra wasfound to grow as a normal child till her thirdyear where she has developed motor
reggression while preserving her mental &social development.
A significant family history include
consanguinity of her parents & death of threeof their siblings after Thekra ,now she hasonly one sister(4 months old)
8/7/2019 CASE PRESENTATION-ATAXIA
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Routine investigations were done on patient
arrival which showed no thing significant
except for:
Elevated WBC that was attributed to her
current acute infection
Patient ABG revealed metabolic acidosis which
was attributed to the anaerobic metabolism
during the arrest status.
8/7/2019 CASE PRESENTATION-ATAXIA
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From the previously mentioned symptomsand signs, it appears that the lesion isinvolving the cerebellum and brain stem
functions with some sort of polyneuropathyand myopathy.(-----ICU acquiredpolyneuromypathy)
Theses were put in mind as a
pathological diagnosis
8/7/2019 CASE PRESENTATION-ATAXIA
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Differential diagnosis to the case was put and
work up was started-------------------------------.
8/7/2019 CASE PRESENTATION-ATAXIA
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On examination (current),patient isconcious,alert,afebrile,slightly pale ,withtracheostomy tube ,on MV (P-SIMV mode) withher abnormal breathing pattern clearlyapparent. (Biots respiration) .
She has gase evoked nystagmus,regular,reactivebut unequal pupils Rt>Lt,tonguefasciculations,dysmetria,intention
tremor,hypotonia & decrease in power UL>LLand hyporeflexia with bilateral positive babniskisign
8/7/2019 CASE PRESENTATION-ATAXIA
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All symptoms have had insidious onsetprolonged progressive course so ourDifferential diagnosis include causes of
chronic progressive cerebellar ataxia that areassociated with brain stem involvementwhich are grouped into:
1- Brain tumour
2-Genetic diseases
8/7/2019 CASE PRESENTATION-ATAXIA
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There was no history of vomitting,headache or
blurring of vision,no papillodema was found
on foundoscopy and no mass lesion was seen
on MRI ---------------------------- SO -
BRAIN TUMORS WERE EXCLUDED-
8/7/2019 CASE PRESENTATION-ATAXIA
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From the genetic diseases that causes cerebellar
ataxia we consider the following as DD:
ATAXIA TELANGICTASIAATAXIA OCCLUMOTOR APRAXIA TYPE1
OPSOCLONUS MYOCLONUS ENCEPHALOPATHY
WITH NEUROBLASTOMAFAMILIAL ISOLATED VIT E DEFECIENCY
MITOCHONDRIAL CYTOPATHY
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ATAXIA TELANGICTASIA
Autosomal recessive
Most common degenerative ataxia
Age of ataxia onset is~=15m-2years with progression to lossof ambulation by adolescence
Clinical manifestation include progressive ataxia,occulomotordysfunction,occulocutaneos telangictasia (present aroundage of 5)
Combined B&T cell deficiency(decreased IgA,IgG2,CD4Tcells);persent with recurrent sinopulmonary infections
Increased risk of malignancy(lymphoma,leukemia,HD,Brain
tumors)Laboratory investigations revealed increased alpha-fetoprotien and decreased immunoglobulins,CD4 cells
8/7/2019 CASE PRESENTATION-ATAXIA
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In regarding our case:
Although it is a case of progressive ataxia &the
occulomotor manifestations could beregarded to some extent as oculomotor
dysfunction,oculocutaneous telangictasia is
not present.
Furthermore,IgA,IgG and alpha-fetoprotien were
done &all were within normal range
8/7/2019 CASE PRESENTATION-ATAXIA
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in such case AOA type 1 could be considered,
but hypoabuminemia was not a presenting
finding
Finally, MRI shows nor vermian or cerebellar
hemispheres atrophy,neither increased
infracerebellar subarachnoid spaces.
-------SO AT & AOA type 1 could be excluded
8/7/2019 CASE PRESENTATION-ATAXIA
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OPSOCLONUS MYOCLONUS
ENCEPHALOPATHY with
neuroblastomaAlthough neuroblastoma is the third mostcommon cancer in childhood & it can presentwith paraneuplastic syndrome as OME &its
most commonly presented from 6m-6years&itis presented as cerebellar ataxia,there isneither opsoclonus,nor myoclonous.
U/S was done for abdomen & no mass wasdetected.
Urinary VML test was sent --------
8/7/2019 CASE PRESENTATION-ATAXIA
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Further important diagnostic tests for metabolic
diseases are not available.
MRI was done for the patient that showsbilateral hyperintensities segments involving
the basal ganglia,cerebellar
hemispheres,tegmentum of the pons and
medulla oblongata ----------which suspect
MITOCHONDRIAL CYTOPATHY
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HOME WORK
WHAT TYPE OF MITOCHONDRIAL CYTOPATHY
DOES THE PATIENT HAVE?
WHAT FURTHER INVESTIGATIONS DO WE NEEDTO CONFIRM DIAGNOSIS?
WHAT IS THE PROGNOSIS?
WHAT IS OUR PLAN FOR HER AND HER SISTER?
8/7/2019 CASE PRESENTATION-ATAXIA
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A SECOND MEETING WILL INCLUDE:
1. Review of the basic biochemistry of oxidative metabolism
2. Describe mitochondrial molecular genetics andbiochemistry of mitochondrial disorders
3. Acquire information needed to recognize the patient atrisk for a mitochondrial cytopathy
4. Assess which patient needs referral for further evaluation
5. Organize a care plan6. Primer (Biology, Genetics and Overview of Evaluation,Details of Evaluation Guidelines, Primer for Management)
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THANK YOU