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Path > Test 3- Developmental Abnormalities > Flashcards

Test 3- Developmental Abnormalities Flashcards

1
Q

Developmental Anomalies may manifest as either…

A

Anatomic Malformations

– Failure to fuse

– Failure to canalize/separate

– Cysts

– Failure of a structure to develop

– Abnormal development of a structure

– Ectopic development

Biochemical Defects

  • Involve an inability to synthesise adequate amounts of a particular enzyme or other protein
  • Usually due to a genetic mutation

• Usually no grossly visible malformations

• Examples
– Haemophilia

– Lysosomal storage diseases

– Dermatosporaxis
– Albinism

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2
Q
A

Aborted calf
MDx: Arthrogryposis(abnormally fixed limbs)

Limb are fixed in abnormal(flexed or extended)

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3
Q

Pathogenesis of arthrogryposis:

A

Limbs do not move during development/ leads tomuscles don’t develop correctly leads to connective tissue matures leads to limbs fixed in place

The animal hasn’t been able to move limbs in utero

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4
Q

Pathogenesis of Anatomical Developmental Anomalies Occur due to injury of cells during embryogenesis.

The nature of the anatomical defect that results depends on:

A
  1. Timing
  2. Tissue injured
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5
Q

Zygote

Cow 10-12 days following fertilization

A

Death and resorption leads to early returns to breeding / infertility

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6
Q

Embryo (organogenesis)

Cow 15-45 days
Ewe 11-34 days

Mare 12-60 days

A

Depends on extent of injury:

Developmental anomaly carried to term- THIS IS THE TIME, WHERE YOU GET MALFORMATION

Death of embryo and abortion

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7
Q

Fetus (growth)

Cow 45 days to term Cow 45-125 days Mare 55 days to term Ewe 34 days to term

A

Illness/ death of foetus resulting in:

Abortion

Mummification

Stillbirths

Weak neonates

Persistent viremia immunotolerance

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8
Q

What tissue would need to be injured to result in arthrogryposis?

A
  • muscle injury
  • nerve injury
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9
Q
A

calf spinal cord in early gestation

MDx: Severe nonsuppurative myelitis

How can we determine the cause of the arthrogryposis and hydranencephaly?

SEROLOGY ON THE CALVES- because if they are positive then they have been exposed, but you can’t do it on a calf that suckled( can have false positives due to colostrum)

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10
Q
A

Final Disease Dx = Akabane (Bunyavirius)

All calves infected with akabane virus at the same time, but they are at different stages of gestation
(some conceived earlier than others)

Infected 120-180 days – AG (see 1st)

Infected 80-100 days – HA (see 2nd)

DEPENDING ON TIMING OF INFECTION, THE LESIONS CAN BE DIFFERENT

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11
Q

Causes of developmental anomalies

A

Causes of developmental anomalies

Things that injure cells at a critical stage of development.

The defect depends on tissue tropism and timing.

1. Genetic defect( can happen in outbreaks)

2. In utero infection – BVD, bluetongue, border disease, akabane, panleukopenia, classical swine fever

3. In utero exposure to teratogens – toxic plants, griseofulvin in cats

4. In utero nutritional deficiencies

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12
Q
A

Cat brain
MDx: Cerebellar hypoplasia
Etiology: Feline panleukopenia virus (parvovirus)

parvovirus in any species- also bovine diarrhea virus

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13
Q
A

Cat oral cavity
MDx: Palatoschisis(clef palate)

Etiology: Griseofulvin

when given griseofulvin while preganant- clef palate

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14
Q
A

Lamb
MDx: Synophthalmia
Etiology: Veratrum californicum day 14 gestation

orbits and eyes are fused

toxic plant grazed on day 14

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15
Q
A

Foal intestines
MDx: Colonic hypoplasia

Disease: Lethal white syndrome

Etiology: inherited genetic defect

no melanin- albino

more than 1 abnormalitiy- gene affected has more than 1 protein that it codes fo

neurocrest cells are responsbile for both large intestine cells and melanin

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16
Q

Genetic Etiology of Developmental Anomalies

A

Inherited genes – often autosomal recessive

Spontaneous somatic genetic defect

Chromosomal anomalies

Breed predispositions

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17
Q
A

Dog MDx: hydrocephalus

ventricles are expanded with CSF, causes atrophy of surrounding tissues

chicuwawas

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18
Q

Developmental anomalies of Persian cats

A

polycystic kidney disorder (PKD)

cardiomyopathy

cataracts

cleft palates & cleft lips

mega-oesophagus

portosystemic shunt (liver)

patent ductus arteriosus (PDA)

entropion

amyloidosis

mucopolysaccharidosis

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19
Q

Anatomic Malformations

A

• Types

– Failure to fuse

– Failure to canalize/separate

– Cysts

– Failure of a structure to develop

– Abnormal development of a structure

– Ectopic development

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20
Q
A

Type of anatomical defect: failure to develop

Dog pancreas

MDx: pancreatic aplasia
Disease name: Exocrine pancreatic insufficiency

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21
Q
A

Type of anatomical defect: failure to develop

Dog pancreas

MDx: pancreatic hypoplasia
Disease name: Exocrine

just a little bit of pancreas

22
Q
A

Calf/Puppy

Type of anatomical defect: failure to fuse

MDx: spina bifida

neural tube defect

23
Q
A

Calf brain

MDx: meningoencephalocele

Type of anatomical defect: failure to fuse

meninges and brain protude out - because bones of the skull have not fused

head equalivate of spina bufida

24
Q

Fusion Defects (Failure to close/fuse)

A

Spina bifida – cleft in the dorsal tissues of the spine

Palatoschisis (cleft palate) – cleft in the hard palate

Cheiloschisis – cleft lip

Hypospadias – cleft in the penis, exposes the urethra

exposing the urethra

Coloboma – cleft in the internal structures of the eye

Interventricular cardiac septal defect – a hole communicating between the ventricles of the heart- causes two ventricle to communicate

Schistosomus reflexus

25
Q
A

Pig MDx: umbilica hernia

Fusion Defects (Failure to close/fuse)

26
Q
A

Calf brain

Type of anatomical defect: failure to fuse

MDx: maxillary brachygnathia and palatoschisis
(cleft palate)

27
Q
A

Calf Type of anatomical defect: failure to fuse

MDx: schistosomas reflexus

sternal cleft, dorsal reflection of ribs, eventration of viscera, non-union of pelvic symphysis

28
Q
A

Lamb

Type of anatomical defect: failure to canalize

MDx: atresia ani

FAILS TO OPEN

29
Q
A

Cat kidneys
MDx: Renal cysts
Disease: Polycystic kidney disease

Etiology: Inherited genetic defect

Type of anatomical defect: Cyst

30
Q
A

Cat kidneys
MDx: Pituitary cyst (Raphke’s pouch cyst)

Disease: Pituitary dwarfism

Type of anatomical defect: Cyst

Because they don’t have the Anterior pituary- no GROWTH HORMONE

31
Q
A

Calf feet Type of anatomical defect:

MDx: polydactyly

Abnormal development of a structure

32
Q
A

Sheep thoracic limbs Type of anatomical defect:

MDx: polymelia

Abnormal development of a structure

too many limbs

33
Q
A

“Vets believe his condition is a result of an error during embryo formation, which meant he was born a polydactyl - or with many legs.
It is a condition that occurs once in several million sheep.
Veterinarian Steve Williams at Canterbury Vets Clinic in Methven said the animal is also a hermaphrodite and missing some of its bowel which means he will probably have to be destroyed.”

Correct: polymelia

34
Q
A

Dog coxofemoral joints
MDx: coxofemoral malformation Disease name: Hip dysplasia

Type of anatomical defect:

Abnormal development of a structure, which manifests as arthrisitis later in live

  • flat heads of both femurs
  • flat acetabular rims
  • one head luxated out of joint
35
Q
A

Calf heart
MDx: Ectopia cordis

Type of anatomical defect:

Ectopic development

heart forms outside of body

36
Q

Calf with worsening neurological signs, otherwise looks ok. Was normal at birth.
Does this rule out a developmental anomaly?

A

NO- not all developmental anomaley have something anatomically wrong

37
Q
A

Calf brain
MDx: Vacuolar neuronal degeneration

Disease name: Mannosidosis
Etiology: genetic defect for mannosidase

neurons filled with vacoules lysosomal storage disease

38
Q

Lysosomal Storage Diseases

A

Genetic deficiency of particular lysosomal enzymes

Histo: vacuoles filled with the accumulated substrate of the deficient enzyme

Post-mitotic (long-lived) cells most susceptible, accumulate more substrate

– Neurons
– Skeletal and cardiac muscle

39
Q
A

Raccoon Cerebellum

MDx: Vacuolar neuronal degeneration

Disease name: Neiman Pick Disease

Etiology: genetic defect for sphingomyelinase

40
Q

Congeital

A

ANIMAL IS BORN WITH THIS DISORDER

DIFFERENT FROM GENTETIC OR INHERITED

41
Q
A

Calf brain
MDx: Hydranencephaly

brain hemispheres are missing

42
Q

THE TIMING OF INJURY AFFECTS

A

WHAT KIND OF INJURY AND TO WHAT TISSUE

43
Q

Albinism

A

In: cat, cow, chicken, dog, sheep

tyrosinase

44
Q

Dwarfism

A

IN: chicken

growth-hormone receptor

45
Q

GM1 gangliosidiosis

A

IN: cat, cow, sheep, dog

Β-galactosidase

46
Q

Goitre

A

In: cow, goat

thyroglobulin

47
Q

Malignant hyperthermia

A

In; pig

ryanodine receptor

48
Q

Myotonia congenita

A

In: dog, goat, horse

chloride channel

49
Q

X-linked muscular dystrophy

A

In; cat, dog

dystrophin

50
Q

What is a congeital lesion?

A

A congeital lesion are defeats of growth or developement of a tissue or organ that are present, but not nessarily obvious at birth.

51
Q
A

Calf brain
MDx: Hydranencephaly

52
Q

Injuries to tissue that result in a malformation usually occur during which stages of gestation?

A

Early to middle

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