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M3 Path Block 2 > 6 - Diseases of Infancy and Childhood > Flashcards

6 - Diseases of Infancy and Childhood Flashcards

1
Q

Congenital Anomalies (1 of 3): Malformations

A

Multifactorial-multiplie genetic loci involved

E.g. Polydactyly/syndactyly

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2
Q

Congenital Anomalies (2 of 3): Disruptions

A

Results from secondary destruction of an organ or body region

E.g. amniotic band

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3
Q

Congenital Anomalies (3 of 3): Syndrome

A

Constellation of congenital anomalies

Often caused by a single etiologic agent
e.g. viral infection of specific chromosomal abnormality

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4
Q

Congenital Anomalies: Deformations

A

Extrinsic developmental disturbance
Patogenesis: localized or generalized compression of the fetus –> leading to a variety of structural abnormalities

The most common cause: uterine constraint

Maternal factors: 1st pregnancy, small uterus, malformed uterus, leiomyomas

Fetal or placental factors: oligohydramnios, multiple fetuses, abnormal fetal presentation

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5
Q

Congenital Anomalies: Sequence

A

A cascade of anomalies triggered by one initiating aberration

E.g. the oligohydramnios or potter sequence

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6
Q

Prematurity:

A

Gestational age of less than 37 weeks
The second most common cause of neonatal mortality

Based on birth weight infants classified as

AGA: Appropriate for gestational age
SGA: Small for gestational age
LGA: Large for gestational age

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7
Q

Neonatal Respiratory Distress Syndrome

A

Also known as hyaline membrane disease is most common form

Due to deposition of hyaline proteinaceous materials in the peripheral airspaces

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8
Q

Neonatal Respiratory Distress Syndrome: Other Causes

A

Excessive sedation of the mother
Fetal head injury during delivery
Aspiration of blood or amniotic fluid
Intra-uterine hypoxia due to cord around neck

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9
Q

Neonatal Respiratory Distress Syndrome 2

A

Type II pneumocytes secrete surfactant (DPPC) and reduce alveolar surface tension

Deficiency of SFTPB or SFTBC genes –> congenital deficiency of surfactant

Atlectasis: collapse of lung (can lead to uneven perfusion)

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10
Q

Neonatal Respiratory Distress Syndrome: Clinical Findings (Slide 12)

A

Dyspnea, Cyanosis, bilateral fine rales

Chest x-ray: ground glass appearance of lungs

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11
Q

Neonatal Respiratory Distress Syndrome: Management

A

Investigation: By estimating the level of amniotic phospholipids

Treatment: Prophylactic administration of exogenous surfactant at birth

Antenatal corticosteroids to mothers with threatened premature delivery

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12
Q

Neonatal Respiratory Distress Syndrome: Complications (4)

A
  1. O2 Toxicity - O2 derived free radicals
  2. Bronchopulmonary dysplasia
  3. Retrolental fibroplasia - VEGF markedly decreased
  4. Infants who recover from RDS: At increased risk for PDA, intraventricular hemorrhage and NEC
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13
Q

Necrotising Enterocolitics (NEC)

A

Very common in premature infants
Multifactorial

Prematurity –> enteral feeding
Introduction of bacteria (Postnatal insult)
Sets in motion the cascade of events
Tissue destruction

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14
Q

NEC

A

No single pathogen linked to NEC
Inflammatory mediators: PAF increase mucosal permeability by inducing apoptosis of the enterocytes, and damaging zonula occludens or tight junctions in between the epithelial cells

Now that the mucosal barrier is down, the guy flora can invade transmurally, cause inflammation and mucosal necrosis –> further bacterial entry, sepsis and shock

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15
Q

NEC: Clinical Findings and Investigations

A

Clinical Findings:
Bloody stools
Abdominal Distention
Circulatory collapse

Investigations:
Stool and serum samples have higher levels of PAF as compared to age-matched controls

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16
Q

NEC: Gross Pathology

A

Terminal ileum, caecum, and right colon
Involved segment-distended, friable, and congested or even gangrenous. Gas bubbles

Perforation with peritonitis

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17
Q

Fetal Hydrops

A

Can be immune or non-immune

Immune: Hemolytic disease caused by blood group incompatibility between mother and fetus

Causes: Refer to table on Slide 20

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18
Q

Inborn Errors of Metabolism (3)

A

PKU, Galactosemia, Cystic Fibrosis

Mode of inheritance, genetic defect, biochemical abnormality, morphological changes seen in organs affected, clinical course of the disease

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19
Q

PKU

A

Autosomal Recessive Inheritance
Bi-allelic mutation

Deficient enzyme: Phenylalanine Hydroxylase System

Defect: Inability to convert phenylalanine to tyrosine –> Phenylalanine gets accumulated –> enters minor shunt pathways –> phenylpyruvic acid, penyllactic acid, and phenylacetic acid excretedin large amounts in the urine

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20
Q

PKU: Clinical Features

A

Normal at birth within few weeks raised PA

Brain damage: severe mental retardation

Seizures, can’t talk and walk

Decrease pigmentation of hair, skin, and eczema

PKU mother not on dietary restriction = baby with mental retardation, microcephalic, CHD

Early dx and dietary restriction of phenylalanine can prevent MR

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21
Q

Galactosemia

A

Autosomal Recessive

Deficient enzyme: Galactose-1-phosphate uridyl transferase (GALT)

Accumulation of major galactise-1-phosphate

Alternate metabolic pathway products - Galactitol, galactonate

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22
Q

Galactosemia: Clinical Features

A

Symptoms appear with milk ingestion in infants

Failure to thrive almost from birth, vomiting, and diarrhea

Cataracts within few weeks

Aminoaciduria

Jaundice, hepatomegaly within few days of milk ingestion

Mental retardation at 6-12 months

E.coli infection (depressed bactericidal activity of neutrophil)

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23
Q

Galactosemia: Pathology

A

Liver (fatty change and fibrosis)

Lens of eyes show opacities (Cataracts)

Brain damage involved (mechanism unknown) loss of neurons, gliosis, and edema

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24
Q

Galactosemia: Management

A

Investigation: Reducing sugar in urine and confirmed by GALT assay in tissue

Treatment: Removal of galactose from diet for at least the first 2 years of life

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25
Q

Cystic Fibrosis

A

Autosomal Recessive Inheritance

Widespread disorder in epithelial chloride transport affecting fluid secretion in:

  • Exocrine glands
  • Epithelial lining of the respiratory, GI, and reproductive tracts
  • Abnormal viscid mucus secretion

Sweat test: Increased chloride and increased sodium

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26
Q

Cystic Fibrosis: CFTR Gene Structure and Activation

A

Two transmembrane spanning domains

Two cytoplasmic nucleotide binding domains

One R (Regulatory domain

Activation of CFTR done by Ach (agonist) induced regulation of chloride channel

Interacts with epithelial Na channels (EnAc)

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27
Q

CFTR Mutations

A

If mutations disturbs protein folding (e.g. F508 mutation), CFTR is degraded intracellularly, so that no protein is transported to the plasma membrane –> most common, deletion of 3 nucleotides

Other mutations: abnormal protein is processed and trafficks to the plasma membrane but functions abnormally at that site

28
Q

Cystic Fibrosis: Chloride Channel - Sweat Glands

A

CFTR activation increases luminal Cl- resorption

ENaC increases Na+ resorption

Sweat is hypotonic

Absence of CFTR: decreases luminal Cl- and Na+ resorption, sweet is HYPERTONIC

29
Q

Cystic Fibrosis: Chloride Channel - Airways

A

CFTR activation increases active luminal secretion of chloride

*EnAC is inhibited

Secretions are decreased, but *ISOTONIC

Dehydration of the mucus layer coating epithelial cells, defective mucocilliary action, and mucus plugging of airways

30
Q

CFTR absence

A

Decreases secretion of Cl

Lack of ENac opens Na channel with active resorption of
luminal Na and H20

31
Q

Cystic Fibrosis: Clinical Features

A

Chronic Sinopulmonary Disease: persistent colonization with typical CF pathogens (S. Aureus, H. Influenza, Pseudomonas)

Chronic cough with sputum
CXR: bronchiectasis, atelectasis

Wheezing (Airway obstruction) and nasal polyps

32
Q

Cystic Fibrosis: Clinical Features 2

A

GI and Nutritional abnormalities:
Intestinal - meconium ileus, rectal prolapse, obstruction

Pancreas - insufficiency, recurrent acute and chronic pacnreatitis

Hepatic - biliary cirrhosis, prolonged neonatal jaundice

Nutritional - failure to thrive, hypoproteinemia, edema, fat-soluble vitamin deficiency

Salt loss syndromes and azoospermia

33
Q

Lungs in Cystic Fibrosis

A

Fibrosis of bronchial wall

Inspissated mucopurulent exudate

Hyperplasia and hypertrophy of mucus cells

34
Q

Pancreas in Cystic Fibrosis

A

Ducts are dilated and plugged with eosinophilic mucin and parenchymal glands are atropic and replaced by fibrous tissue

35
Q

Cystic Fibrosis: Lab

A

Sweat chloride analysis - mor than 60 mmol/L

Nasal transepithelial potential difference; more negative

DNA Analysis gene sequencing

36
Q

Cystic Fibrosis: Criteria for Dx

A

One or more of the characteristic phenotypic feature OR history of CF in sibling OR + newborn screening test result

AND

Increased sweat chloride concentration on 2 or more occasions

Or ID of 2 CF mutations or demonstration of abnormal epithelial nasal ion transport

37
Q

Cystic Fibrosis: Complications

A

Death due to lung infection

Viscous bronchial mucus with obstruction and secondary infection

S. Aureus
Pseudomonas Aeruginosa
H. Influenza

Bronchiectasis

Dilatation of bronchial lumina

Scarring of bronchial wall

38
Q

Sudden Infant Death Syndrome (SIDS)

A

Under 1 year of age, unexplained after thorough investigation

90% of deaths occur < or = to 6 mos of age, mostly between 2 and 4 months

39
Q

SIDS is and has what type of model?

A

Multifactorial

Triple risk model: vulnerable infant, critical development period in homeostatic control, exogenous stressors

40
Q

SIDS: Risk Factor - Parental

A

Young maternal age (<20 years old)

Maternal smoking during pregnancy

Drug abuse in either parent, specifically paternal weed, and maternal opiate, cocaine use

Short intergestational intervals

Late or no prenatal care

Low socioeconomic group

41
Q

SIDS: Risk Factor - Infant

A

Brain stem defects associated with defective arousal and cardiorespiratory control

Prematurity

Male Sex

SIDS in prior sibling

Prior respiratory infections

42
Q

SIDS: Risk Factor - Environment

A

Prone or side sleep position

Sleeping on soft surface

Hyperthermia

Post natal smoking

43
Q

SIDS: Pathogenesis

A

Delayed development of “arousal” and cardiorespiratory control which affects

Medulla oblongata (brain stem) –> plays critical role in body’s “arousal” response to noxious stimuli such as *episodic hypercarbia, hypoxia, and thermal stress encountered during sleep

5HT of medulla is implicated in these arousal responses respiratory drive, BP, and upper airway reflexes

*Abnormalities in serotonin-dependent signaling in the brainstem

44
Q

SIDS: Pathogenesis 2

A

Laryngeal chemoreceptors typically elicit an inhibitory cardiorespiratory reflex

Stimulation of the chemoreceptors is augmented by respiratory tract infections, which increase the volume of secretions, and by the prone position

*Prone position, impairs swallowing and clearing of the airways, even in healthy infants

Protective mechanism

45
Q

SIDS: Postmortem Abnormalities

A

Infections: Viral myocarditis, bronchopneumonia

Unsuspected congenital anomaly; congenital aortic stenosis

Traumatic child abuse: intentional suffocation (filicide)

Genetic and metabolic defects

Long QT syndrome (SCN5A and KCNQ1 mutations)

Fatty acid oxidation disorders

46
Q

SIDS: Morphology

A

Multiple Petechiae - most common finding; present on thymus, visceral, and parietal pleura

Lungs are congested, and vascular engorgement with or without pulmonary edema

NS demonstrates astrogliosis of the brain stem and cerebellum

Nonspecific findings include frequent persistence of hepatic extramedullary hematopoiesis and periadrenal brown fat

47
Q

SIDS: Diagnosis

A

Diagnosis of exclusion

Complete autopsy

Examination of death scene, review of clinical history

Differential: child abuse and intentional suffocation

48
Q

Benign tumors and tumor-like lesions: Hemangiomas

A

Port wine stain

49
Q

Benign tumors and tumor-like lesions: Lymphangiomas

A

Cystic hygroma

50
Q

Benign tumors and tumor-like lesions: Others

A

Fibrous tumors

Sacrococcygeal teratoma

Naevi

Heterotropia

51
Q

Benign tumors and tumor-like lesions: Sacrococcygeal Teratomas

A

Germ cell neoplasm: fluid filled mass sticking out of fetus

Mass in sacrum and buttocks

Composed of >1 germ cell layer elements

Neural origin determines the behavior

benign

52
Q

VHL Disease

A

Chromosome 3p
VHL gene, a tumor suppressor gene

Hemangioblastomas - cerebellum; retina (port wine stains)

Cysts in pancreas, liver, and kidneys

Renal Cell Carcinoma; pheochromocytoma

Can see congenital papillary hemiangioma (red leg)

53
Q

Small, round, blue cell tumors of childhood

A

Primitive embryonal cells with small, round blue nuclei, scanty cytoplasm - hence blue

Some show features specific to the site of origin - e.g. immature glomeruli and tubules in nephroblastoma

Blastemal cells - so “blastoma”

Based on histological characteristics

Slide 53 - know Wilm’s Tumor and Neuroblastoma

54
Q

Neuroblastic Tumors

A

Origin: Primordial neural crest cells in adrenal medulla and the sympathetic ganglia

55
Q

Neuroblastic Tumors: 3 Common Features

A
  1. Spontaneous regression
  2. Spontaneous or therapy induced maturation
  3. Wide range of clinical features
56
Q

Neuroblastic Tumors: Neuroblastoma

A

Most important member of this family

Most common EXTRACRANIAL solid childhood tumor

Most frequently diagnosed tumor of infancy

Prevalance: 1 in 7000 live births
Median age at diagnosis - 18 months

57
Q

Mutations and Amplifications (2)

A
  1. Germline mutations in the anaplastic lymphoma kinase (ALK) gene in familial
  2. N-MYC oncogene ampligication: Transcription factor
58
Q

Neuroblastoma: Morphology

A

Location: 40% in adrenal medulla
Paravertebral
Posterior (mediastinal)
Other: cerebral

Size: minute nodules (in-situ NBI) to large masses >1kg

Capsulated or infiltrative-kidney, renal vein, IVC

Consistency: soft, grey-tan, with hemorrhage, necrosis, calcification

59
Q

Neuroblastoma: Morphology Microscopically

A

Homer-Wright pseudo rosettes with pink neuropil in the centre

IHC: NSE (Neuron Specific Enolase) is positive in the cells

60
Q

Neuroblastoma: Clinical Presentations

A

Abdominal mass, fever, weight loss

Metastasis: Both hematogenous and lymphatic route

61
Q

Neuroblastoma: Investigations

A

Increased blood level of catecholamines

Increased urine levels of VMA (Vanillylmandelic acid) and HVA (Homovanillic acid)

N-Myc amplication (Slide 59)

62
Q

Wilm’s Tumor (Nephroblastoma)

A

Malignant neoplasm of embryonal nephrogenic elements

2-5 years
Good prognosis
Associated with congenital malformations

Tumor resembles developing kidneys

63
Q

Wilm’s Tumor: Associated Syndromes

A

WAGR - Wilm’s Tumor, Aniridia, Genitourinary anomalies, mental retardation

WT1 Gene

Cut surface: bulging, pale, and tan

64
Q

Wilm’s Tumor: Histopathology

A

Components of Wilms tumor (triphasic)

Blastema

Immature epithelial-abortive tubules, glomeruli

Immature stroma (mesenchymal)

65
Q

Wilm’s Tumor: Clinical Features

A

1-3 years
Unilateral (sporadic) and bilateral (familial)

Large abdominal mass 
Hematuria
HTN
Intestinal obstruction 
Pulmonar metastasis

M3 Path Block 2 (10 decks)

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