Progressive cerebellar syndrome:- Case Discussion

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Information about Progressive cerebellar syndrome:- Case Discussion

Published on May 3, 2007

Author: NeurologyGuru

Source: slideshare.net

Description

Progressive cerebellar syndrome:- Case Discussion

A 35 year old man with progressive cerebellar syndrome and abnormal eye movements Submitted to AskTheNeurologist.Com in 2007 Author Anon.

History Unclear history of childhood cognitive problems requiring special education framework within normal school Age 15 developed generalised seizures and myoclonus Above well controlled with sodium valproate

Unclear history of childhood cognitive problems requiring special education framework within normal school

Age 15 developed generalised seizures and myoclonus

Above well controlled with sodium valproate

History 2 In early 20’s began suffering from action tremor, slurred speech, instability walking and decreased co-ordination in arms In 1993 (aged 23) hospitalised electively without reaching diagnosis Over last few years epilepsy remains well controlled Problems with walking co-ordination worsening, over lat few years confined to wheelchair

In early 20’s began suffering from action tremor, slurred speech, instability walking and decreased co-ordination in arms

In 1993 (aged 23) hospitalised electively without reaching diagnosis

Over last few years epilepsy remains well controlled

Problems with walking co-ordination worsening, over lat few years confined to wheelchair

History III FH of epilepsy No FH of cerebellar disease No consanguinity

FH of epilepsy

No FH of cerebellar disease

No consanguinity

History IV Drug history:- Depalept solution 1200mg /d Mysoline 05mg/d Clonazepam liquid Vitamin A + D Folic Acid Rivotril

Drug history:-

Depalept solution 1200mg /d

Mysoline 05mg/d

Clonazepam liquid

Vitamin A + D

Folic Acid

Rivotril

Examination Bilateral exophthalmus Severe dysarthria PEARLA No KFR’s Fundi normal EOM: - Pursuit movements in tact - Very slow / absent saccades - No nuclear / infranuclear problem

Bilateral exophthalmus

Severe dysarthria

PEARLA

No KFR’s

Fundi normal

EOM: - Pursuit movements in tact

- Very slow / absent saccades

- No nuclear / infranuclear problem

Examination II Tone mildly reduced Power preserved Decreased reflexes symmetrically No pyramidal signs Sensation preserved Dysmetria, DDK, int. tremor bilaterally Unable to stand Athetotic / dystonic movements mainly in arms

Tone mildly reduced

Power preserved

Decreased reflexes symmetrically

No pyramidal signs

Sensation preserved

Dysmetria, DDK, int. tremor bilaterally

Unable to stand

Athetotic / dystonic movements mainly in arms

Clinical summary Progressive cerebellar syndrome Epilepsy ? Red herring (strong FH) Myoclonus (controlled) Slowed / absent saccades (supranuclear problem)

Progressive cerebellar syndrome

Epilepsy ? Red herring (strong FH)

Myoclonus (controlled)

Slowed / absent saccades

(supranuclear problem)

Investigations to date Haematology:- FBC INR Blood smear

Haematology:-

FBC

INR

Blood smear

Biochemistry Electrolytes Liver & Renal function Cholesterol Albumin Lactate Ammonia Ceruloplasmin Copper Thyroid function

Electrolytes

Liver & Renal function

Cholesterol

Albumin

Lactate

Ammonia

Ceruloplasmin

Copper

Thyroid function

Biochemistry II Urinary organic acids Urinary amino acids Hexosaminidase Aryl sulphatase Galacto cerebrosidase Immunoglobins

Urinary organic acids

Urinary amino acids

Hexosaminidase

Aryl sulphatase

Galacto cerebrosidase

Immunoglobins

Vitamins E B1 B6 B12

E

B1

B6

B12

Microbiology VDRL Rubella antibodies

VDRL

Rubella antibodies

CSF Normal protein (348 mg/l) No cells

Normal protein (348 mg/l)

No cells

Histopathology Skin biopsy Rectal biopsy Muscle biopsy

Skin biopsy

Rectal biopsy

Muscle biopsy

Electrophysiology NCV: Mild slowing of sensory potentials Normal motor potentials EEG Increased Beta activity No slow or epileptic activity No asymmetry

NCV:

Mild slowing of sensory potentials

Normal motor potentials

EEG

Increased Beta activity

No slow or epileptic activity

No asymmetry

Imaging Abdominal USS MRI + MRS: General atrophy (more pronounced in cerebellum) Increased choline and AA signal posteriorly No increased lactate signal

Abdominal USS

MRI + MRS:

General atrophy (more pronounced in cerebellum)

Increased choline and AA signal posteriorly

No increased lactate signal

Genetics SCA battery SCA 1 SCA 2 SCA 3 SCA 6 SCA 7 DRPLA Friedrich Ataxia Lysosomal enzymes

SCA battery

SCA 1

SCA 2

SCA 3

SCA 6

SCA 7

DRPLA

Friedrich Ataxia

Lysosomal enzymes

Investigations pending Cholestanol AFP GSS codon

Cholestanol

AFP

GSS codon

 

 

 

 

Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS

 

 

 

 

 

 

Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS

Progressive myoclonic epilepsy Usually inborn errors of metabolism Myoclonus Epilepsy Cognitive decline Progressive Lafora body disease Unverricht-Lundborg disease Lysosomal disorders (e.g. NPD, NCL) Mitochondrial disorders (MERRF and others)

Usually inborn errors of metabolism

Myoclonus

Epilepsy

Cognitive decline

Progressive

Lafora body disease

Unverricht-Lundborg disease

Lysosomal disorders (e.g. NPD, NCL)

Mitochondrial disorders (MERRF and others)

Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS

Inherited ataxias with known metabolic defect Wilson CTX Refsum GM2 gangliosidosis AVED Pure HARP Bassen-Kornzweig Lysosomal

Wilson

CTX

Refsum

GM2 gangliosidosis

AVED

Pure

HARP

Bassen-Kornzweig

Lysosomal

Niemann-Pick C AR – rare Cognitive decline , Ataxia , Movements , Myoclonus , Seizures , Vertical suparanuclear gaze palsy , Psychosis Diagnosis: Bone Marrow ; Fibroblasts with lowered cholesterol esterification rate 18q11-q12

AR – rare

Cognitive decline , Ataxia , Movements , Myoclonus , Seizures , Vertical suparanuclear gaze palsy , Psychosis

Diagnosis: Bone Marrow ; Fibroblasts with lowered cholesterol esterification rate

18q11-q12

Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS

 

 

 

 

 

 

 

 

 

Summary Almost certainly “ early onset genetic ataxia” Probably AR inheritence Phenotype is “AOA” May have AOA1 or AOA 2 mutation

Almost certainly “ early onset genetic ataxia”

Probably AR inheritence

Phenotype is “AOA”

May have AOA1 or AOA 2 mutation

 

Submitted to AskTheNeurologist.Com in 2007 Author Anon.

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