Diseases Of Infancy and Childhood Flashcards
(118 cards)
1
Q
Children should not be regarded as small sized adults biologically. True or false?
A
True
2
Q
What is a neonate?
A
a child within the first four weeks of
life
3
Q
What is an infant?
A
a child within the first year of life
4
Q
Late childhood to adolescent is from …… to ……. year
A
5 – 14 years
5
Q
Causes of death in children younger than 1 year?
A
- Congenital malformations
- Short gestation and low birth
weight - Sudden infant death syndrome
- Respiratory distress of the new
born
6
Q
Causes of death in children between age 1 - 4 years?
A
- Accidents
- Congenital malformations
- Homicide
- Malignant neoplasms
7
Q
Causes of death in children between than 5 - 9 years?
A
- Accidents
- Malignant neoplasms
- Assault (homicide)
- Congenital malformations
8
Q
Causes of death in children between than 10 – 14 years?
A
- Accidents
- Malignant neoplasms
- Suicide
- Homicide
- Congenital malformations
9
Q
Congenital anomalies include?
A
- Malformation
- Disruption
- Deformation
- Sequence
- Malformation syndrome
10
Q
Malformation is a primary error of
morphogenesis and is defined as a morphological defect of an organ or larger regions of the body resulting from an ………… ?
A
intrinsically abnormal developmental process.
11
Q
A particular case of malformation may have ………..?
A
multifactorial determination or origin
12
Q
What is a disruption?
A
Disruption is a morphological defect of an organ, part of an organ or larger region of the body resulting from extrinsic break down of, or an
interference with an originally normal developmental process.
13
Q
Disruption results from ……. with an originally normal developmental process?
A
extrinsic break down of, or an
interference
14
Q
Disruptions are sometimes called ……… ?
A
secondary malformations.
15
Q
Disruptions are not heritable and are usually due to a variety of environmental agents, true or false?
A
True
16
Q
What is a deformation?
A
Deformation is an abnormal form,
shape or position of a part of the
body caused by mechanical forces.
17
Q
Deformations are …………. of development.
A
extrinsic disturbances
18
Q
Deformities are a normal response to …………… and affect the body
structure after the initial
development.
A
abnormal forces (or inability to resist normal forces eg in a weak or
paralyzed limb)
19
Q
The most common underlying factor
in deformations is …….?
A
uterine constraint
20
Q
What is a sequence?
A
A sequence is a pattern of multiple
anomalies derived from a single
known or presumed prior anomaly or mechanical factor.
21
Q
A sequence is a pattern of multiple
anomalies derived from a ………….. ?
A
single known or presumed prior anomaly or mechanical factor.
22
Q
A sequence represent a cascade of
primary or secondary events that are consequences ……….. ?
A
of a single primary malformation or a disruption.
23
Q
An individual with a sequence may be considered to have a multiple defect syndrome if ………… ?
A
the embryological connection between the defects is not recognized
24
Q
What is malformation syndrome?
A
A malformation syndrome is a group of congenital anomalies which are pathologically related.
25
Syndromes are caused by one
aetiological agent such as a virus
infection. Examples of syndromes include?
1. Beckwith-Wiedemann syndrome
2. William syndrome
3. Short cord syndrome
26
What is agenesis?
Agenesis is the absence of a part of the body caused by a presumed absence of the anlage or primordium.
27
The ………….. is the initial clustering of cells from which a part of the body or an organ emerges. It is the bud or primordium.
anlage
28
What is aplasia?
Aplasia refers to the rudimentary structure caused by failure of the anlage to develop completely
29
What is hypoplasia?
Hypoplasia is incomplete development of the primordium. Aplasia is regaded as an extreme form of hypoplasia.
30
What is hyperplasia?
Hyperplasia is the enlargement of an organ due to increased number of cells present.
31
What is dysplasia?
Dysplasia refers to an abnormal organisation of cells in a tissue.
32
Dysplasia is the process and consequence of ………….?
dyshistogenesis
33
An example of dysplasia is?
haemangioma
34
Causes of anomalies include?
1. Genetic (Chromosomal aberrations; 10-15% – Mendelian inheritance; 2-10%)
2. Environmental (Maternal/placental infections; 2-3%. – Maternal diseases; 6-8% – Drugs and chemicals; 1% – Irradiation; 1%)
3. Multifactorial; 20 -25%
4. Unknown; 40-60%
35
Concerning pathogenesis of congenital anomalies, early embryonic period is how long ?
3 weeks
36
Concerning pathogenesis of congenital anomalies, describe what happens in the early embryonic period?
an injurious agent either causes death followed by abortion or the embryo recovers completely without any defect.
37
Concerning pathogenesis of congenital anomalies, how long is the fetal period?
9 to 38 weeks
38
Concerning pathogenesis of congenital anomalies, describe what happens in the fetal period?
This is the period of rapid growth and the fetus is susceptible to growth restriction and injury to already formed organs.
39
Concerning pathogenesis of congenital anomalies, describe what happens enter the 3rd and 9th week?
this is the most dangerous
period during which the embryo is most susceptible to teratogenesis.
Conditions which may occur at this time include; neural tube defects, TA, ASD, VSD, Amelia, meromelia (partial absence of a limb), microphthalmia.
40
Define prematurity?
Prematurity is defined as birth at gestational age less than 37 weeks.
41
the second most common cause of
neonatal death after congenital anomalies is ?
Prematurity
42
4 major risk factors of prematurity include?
1. Preterm premature rupture of membranes
2. Intrauterine infection
3. Uterine, cervical and placental structural abnormalities.
4. Multiple gestation
43
List 7 complications of prematurity?
1. Neonatal respiratory distress
2. Necrotizing enterocolitis
3. Sepsis
4. Intra-ventricular and germinal matrix hemorrhage
5. Prolapsed of umbilical cord
6. Abruptio placenta
7. oligohydramnios
44
Foetuses which suffered from growth restriction in-utero are born less than ………..g at term. Causes may be ……., …….. & ………. ?
2500g
maternal, fetal or placental.
45
List 7 Maternal abnormalities that lead to fetal growth restriction?
1. Pre-eclampsia
2. Chronic hypertension
3. Abuse or narcotic drugs
4. Alcoholism
5. Cigarette smoking
6. Teratogen drugs
7. Maternal malnutrition
46
List the fetal abnormality(s) that lead to fetal growth restriction?
Chromosomal abnormalities: such
as trisomy 18, trisomy 21, trisomy
13, TORCH group of infection.
47
List 6 placental abnormalities that lead to fetal growth restriction?
1. Umbilical –placental vascular
anomalies eg presence of a single
umbilical artery and abnormal cord
insertion
2. placental abruption
3. praevia
4. thrombosis
5. infarction
6. chronic villitis
48
Neonatal RDS is also known as ………. Incidence increases with ………… ?
hyaline membrane disease
decrease in gestational
age.
49
the fundamental defect in RDS is
…………….?
pulmonary immaturity and deficiency of surfactant produced by type II alveolar cells.
50
Production is accelerated after …….. and also during ……….?
35 weeks
Labour
51
Macroscopic morphology of the lungs in NRDS?
1. Normal size
2. Solid
3. Reddish purple
4. Airless
5. Sink in water
52
Microscopic morphology of the lungs in NRDS?
1. Alveoli poorly developed, collapsed; necrotic debris in terminal bronchioles and alveolar ducts.
2. Hyaline membranes (eosinophilic) lining the respiratory tree consist of fibrin, and cellular debris from necrotic type II pneumocytes
53
Hyaline membrane disease is never seen in ………….?
still born infants
54
What is the fate of the hyaline membrane in NRDS?
1. Break off and are phagocytosed
2. Reorganisation by fibroblasts and incorporation into the alveolar wall.
55
List 5 complications of NRDS?
1. Retinopathy of prematurity (retrolental fibroplasias).
2. Bronchopulmonary dysplasia: large alveoli and dysmorphic
capillary configuration.
3. Patent ductus arteriosus
4. Intra-ventricular haemorrhage
5. Necrotizing enterocolitis
56
Necrotizing enterocolitis (NEC) is associated with …………..?
prematurity and enteral feeding.
57
Describe the morphology of Necrotizing enterocolitis (NEC)?
1. Terminal ileum, cecum, right colon are involved
2. Involved area is distended, friable and congested, gangrenous.
3. Perforations and peritonitis may occur.
4. Coagulative necrosis, ulceration, bacteria colonisation and submucosal gas bubbles
58
What is Hydrops fetalis ?
It is the accumulation of oedema fluid in the fetus during intra-uterine growth.
59
Hydrops fetalis is divided into …………..?
immune and non-immune hydrops.
60
What is immune hydrops fetalis?
This is a haemolytic disease caused by blood group antigen incompatibility between mother
and fetus >>> (1.) Rh D (2.) ABO blood groups.
61
underlying basis for immune
hydrops is the ………….. and the
……………….?
immunisation of the mother by
blood group antigens on fetal red cells
free passage of the antibodies so formed from the mother to the fetus through the placenta
62
List 3 CVS causes of non-immune hydrops?
1. Malformations
2. Tachyarrhythmia
3. High output failure
63
List 3 chromosomal causes of non-immune hydrops?
Turner syndrome
Trisomy 21
trisomy 18
64
List 3 fetal anemia causes of non-immune hydrops?
1. Homozygous alpha thalassemia
2. Parvovirus B19
3. Immune hydrops
65
List the causes of non-immune hydrops
1. Cardiovascular
2. Chromosomal causes
3. Thoracic causes
4. Fetal anaemia
5. Twin to twin transfusion
6. Infection (such as cytomegalovirus,
syphilis, toxoplasmosis.)
7. Genitourinary malformation (tumours, genetic /metabolic disorder)
66
List 3 thoracic causes of non-immune hydrops?
Cystic adenomatoid malformation
Diaphragmatic hernia
67
Phenylketonuria is autosomal dominant, true or false?
False, recessive
68
Phenylketonuria is autosomal recessive and caused by severe deficiency of ………… leading to ………..
the enzyme phenylalanine hydroxylate (PAH)
hyperphenylalaninaemia
69
PKU leads to ?
impaired neurological development leading to mental retardation, inability to walk, talk, seizures, decreased pigmentation of hair and skin, musty odors, eczema
70
Define galactosemia?
Glactosemia is an autoimmune recessive disorder with accumulation of galactose-1-phosphate in the tissue due to deficiency of galactose-1-phosphate uridyltransferase (GALT) or deficiency of galactokinase.
71
Glactosemia is an autoimmune dominant disorder, true or false?
False, recessive
72
Glactosemia is an autoimmune recessive disorder with accumulation of ……………. in the tissue due to deficiency of ……………. or
deficiency of ………...
galactose-1-phosphate
galactose-1-phosphate
uridyltransferase (GALT)
galactokinase
73
Clinical features of galactosemia include?
Liver, eyes, brain mainly affected.
hepatomegaly
Cataracts
Loss of nerve cells
Gliosis
Failure to thrive
Vomiting and diarrhoea
Jaundice
Intellectual disability
E. coli septicaemia
74
How is galactosemia treated?
Galactose is removed from diet in the first two years
75
Cystic Fibrosis (CF) is the most common lethal genetic disease that affect ……….., populations?
Caucasian
76
What is cystic fibrosis?
This is an autosomal recessive disease.
CF is an inherited disorder of ion transport that affects fluid secretion in exocrine glands and in the epithelial lining of the respiratory, gastrointestinal and reproductive tracts.
77
CF is an inherited disorder of …………. that affects …………. and in the …………..?
ion transport
fluid secretion in
exocrine glands
epithelial lining of the respiratory,
gastrointestinal and reproductive tracts.
78
The primary defect in cystic fibrosis is …………. mediated by an ………… encoded by a ………… located on chromosome ………..?
abnormal transport of chloride and bicarbonate ions
anion channel
mutated cystic fibrosis transmembrane conductance regulator gene (CFTR)
chromosome 7q31.2
79
In cystic fibrosis, Mutations are categorised into ……… ?
class 1 – 5 mutations
80
The phenotypic differences in the manifestations of the disease have been found to be due to modifiers such as:
1. Presence of other genetic polymorphisms eg transforming growth factor beta 1 which affect
neutrophils function.
2. Environmental modifiers such as infection with pseudomonas aeruginosa.
81
In cystic fibrosis, pancreatic abnormalities include?
mucus pluging of small ducts
atrophy
fibrosis
squamous metaplasia.
82
In cystic fibrosis, describe the morphology of the small intestine?
meconium ileus
83
In cystic fibrosis, describe the morphology of the liver?
bile canaliculi pluged by ductular mucous material
ductular proliferation
portal inflammation
hepatic steatosis
focal biliary cirrhosis.
84
In cystic fibrosis, describe the morphology of the salivary gland?
dilation of ducts
squamous metaplasia
glandular atrophy.
85
In cystic fibrosis, describe the morphology of pulmonary changes?
airway obstruction
airway infection.
Hyperplasia and hypertrophy of mucus secretory cells.
86
In cystic fibrosis, Azoospermia and infertility found in 95% of males. True or false?
True
87
In cystic fibrosis, Congenital bilateral absence of vas deferens. True or false
True
88
In cystic fibrosis, early manifestations may be with malabsorption generalized oedema, pulmonary infection. Airway infection, obstructive pulmonary disease and cor pulmonale are the common causes of death. True or false?
True
89
What is sudden infant death syndrome (SIDS)?
SIDS is an unexplained sudden death of an infant (< 1 year old) despite thorough investigation to identify possible causes.
90
What is sudden unexpected infant death?
Sudden unexpected infant death (SUID) is a case of sudden infant death in which an unexpected anatomical or biochemical cause was found after autopsy.
91
Parenteral risks of SIDS are?
maternal age (< 20 years)
smoking during pregnancy
drug abuse
92
Infant risks of SIDS are?
1. brain stem abnormalities with impairment of arousal and
cardiorespiratory control.
2. prematurity
3. male sex
93
Environmental risk factors for SIDS are?
1. prone or side sleeping
2. sleeping on soft surface
3. sleeping on bed with mother
4. infections
5. intentional suffocation (filicide)
94
Gross findings in SIDS are not usually specific and include?
1. petechiae
2. congested lungs
3. evidence of recent infection in upper respiratory tract,
4. brainstem abnormalities such as hypoplasia of arcuate nucleus.
95
In SIDS, autopsy usually fails to give a clear cause of death. True or false?
True
96
Heterotopia is also known as?
Choristoma
97
What is a heterotopia?
Also known as choristoma. These are normal cells or tissue in abnormal locations. E.g. pancreatic tissue in wall of the stomach.
98
What is a harmatoma?
A disorganised growth of normal matured cells or tissues in its usual
location
99
What is a haemangioma?
this is a benign growth of capillaries [capillary haemangioma, carvenous
haemangioma].
100
What is a teratoma?
this is a benign tumour that show
elements from either of the three germ layers [mature, immature, monodermal]
101
Malignant childhood tumors are known as the small round blue cell tumours. They include?
1. Leukaemia
2. Retinoblastoma
3. Neuroblastoma
4. Teratoma (immature)
5. Lymphoma, Hodgkin lymphoma
6. Wilm’s tumour
7. Hepatoblastoma
8. Rhabdomyosarcoma
9. CNS tumours
102
In neuroblastoma, Median age at diagnosis is ………...
18 months
103
About neuroblastoma, they are mostly located where?
1. adrenal medulla, 40%
2. paravertebral region of abdomen, 25%
3. posterior mediastinum, 15%
104
Describe the gross appearance of a neuroblastoma?
neuroblastoma may have a pseudocapsule and appear fleshy.
105
Histology of neuroblastoma shows?
1. Small primitive cells, dark nuclei, scant cytoplasm
2. Eosinophilic fibrillary material (neuropil).
3. Homer-wright pseudorosettes: the cells are concentrically arranged around a central space filled with neuropil
106
Immunohistochemistry in neuroblastoma shows?
neurone specific enolase, PHOX2B. Ganglioneuroblastoma: larger cells.
107
Clinical features of neuroblastoma include?
Large abdominal mass
Fever
Weight loss
Bone pains
Respiratory or GI symptoms
108
Homer-wright pseudorosettes are seen in?
Neuroblastoma
109
In wilms tumor, Nephroblastoma may be due effects of some genetic syndromes they include?
1. WAGR Syndrome (Wilms tumour, aniridia, genitourinary anomalies and mental retardation).
2. Denys-Drash syndrome
3. Beckwith-Wiedemann syndrome (BWS)
110
What is the full meaning of WAGR syndrome?
Wilms tumour
aniridia
genitourinary anomalies and
mental retardation
111
About WAGR syndrome, There is constitutional (germline) deletion of
……………. and the tumors develop following a ……………?
11p13. [WT1 and PAX6]
second hit mutation in the second WT1 allele
112
Briefly describe Denys-Drash syndrome?
Gonadal dysgenesis (male pseudo-hermaphroditism) and early-onset nephropathy.
Defect is a dominant negative missense mutation in the zinc finger region of the WT1 protein.
113
Describe Beckwith-Wiedemann syndrome (BWS)?
Hemihypertrophy, organomegaly, macroglossia, omphalocele, large cells in adrenal cortex.
Defect is due to imprinting in genes in chromosome
11p15.5 region.
114
Sporadic Wilms tumour account for 90% of cases, true or false?
True
115
Describe the gross morphology of wilm’s tumor?
Large & solitary
shows well circumscribed mass
10% are bilateral or multicentric
On cut section, it shows homogenous grey foci of haemorrhage, cyst formation and necrosis.
116
Describe the microscopic morphology of wilm’s tumor?
The tumour is triphasic.
1. Blastema >> sheets of small blue cells;
2. Stromal >> myxoid or fibroblastic;
3. Epithelial >> abortive tubules or glomeruli.
5% exhibit anaplasia >> p53 mutations.
Nephrogenic rests >> precursor of Wilms.
117
About wilm’s tumor, sheets of blue small cells are called?
Blastema
118
Clinical features of wilm’s tumor include?
large abdominal mass
hematuria
pain
intestinal obstruction and
hypertension.
