CASE PRESENTATION-ATAXIA

8/7/2019 CASE PRESENTATION-ATAXIA

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THEKRA

&

MITOCHONDRIAL CYTOPATHY?



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



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)



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.



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



Differential diagnosis to the case was put and

work up was started-------------------------------.



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



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



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-



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



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



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



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



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 --------



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



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?



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)



THANK YOU

CASE PRESENTATION-ATAXIA

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