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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
Cystic Fibrosis
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
26
Cystic Fibrosis: CFTR Gene Structure and Activation
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)
27
CFTR Mutations
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
Cystic Fibrosis: Chloride Channel - Sweat Glands
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
Cystic Fibrosis: Chloride Channel - Airways
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
CFTR absence
Decreases secretion of Cl Lack of ENac opens Na channel with active resorption of luminal Na and H20
31
Cystic Fibrosis: Clinical Features
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
Cystic Fibrosis: Clinical Features 2
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
Lungs in Cystic Fibrosis
Fibrosis of bronchial wall Inspissated mucopurulent exudate Hyperplasia and hypertrophy of mucus cells
34
Pancreas in Cystic Fibrosis
Ducts are dilated and plugged with eosinophilic mucin and parenchymal glands are atropic and replaced by fibrous tissue
35
Cystic Fibrosis: Lab
Sweat chloride analysis - mor than 60 mmol/L Nasal transepithelial potential difference; more negative DNA Analysis gene sequencing
36
Cystic Fibrosis: Criteria for Dx
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
Cystic Fibrosis: Complications
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
Sudden Infant Death Syndrome (SIDS)
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
SIDS is and has what type of model?
Multifactorial Triple risk model: vulnerable infant, critical development period in homeostatic control, exogenous stressors
40
SIDS: Risk Factor - Parental
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
SIDS: Risk Factor - Infant
Brain stem defects associated with defective arousal and cardiorespiratory control Prematurity Male Sex SIDS in prior sibling Prior respiratory infections
42
SIDS: Risk Factor - Environment
Prone or side sleep position Sleeping on soft surface Hyperthermia Post natal smoking
43
SIDS: Pathogenesis
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
SIDS: Pathogenesis 2
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
SIDS: Postmortem Abnormalities
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
SIDS: Morphology
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
SIDS: Diagnosis
Diagnosis of exclusion Complete autopsy Examination of death scene, review of clinical history Differential: child abuse and intentional suffocation
48
Benign tumors and tumor-like lesions: Hemangiomas
Port wine stain
49
Benign tumors and tumor-like lesions: Lymphangiomas
Cystic hygroma
50
Benign tumors and tumor-like lesions: Others
Fibrous tumors Sacrococcygeal teratoma Naevi Heterotropia
51
Benign tumors and tumor-like lesions: Sacrococcygeal Teratomas
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
VHL Disease
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
Small, round, blue cell tumors of childhood
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
Neuroblastic Tumors
Origin: Primordial neural crest cells in adrenal medulla and the sympathetic ganglia
55
Neuroblastic Tumors: 3 Common Features
1. Spontaneous regression 2. Spontaneous or therapy induced maturation 3. Wide range of clinical features
56
Neuroblastic Tumors: Neuroblastoma
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
Mutations and Amplifications (2)
1. Germline mutations in the anaplastic lymphoma kinase (ALK) gene in familial 2. N-MYC oncogene ampligication: Transcription factor
58
Neuroblastoma: Morphology
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
Neuroblastoma: Morphology Microscopically
Homer-Wright pseudo rosettes with pink neuropil in the centre IHC: NSE (Neuron Specific Enolase) is positive in the cells
60
Neuroblastoma: Clinical Presentations
Abdominal mass, fever, weight loss Metastasis: Both hematogenous and lymphatic route
61
Neuroblastoma: Investigations
Increased blood level of catecholamines Increased urine levels of VMA (Vanillylmandelic acid) and HVA (Homovanillic acid) N-Myc amplication (Slide 59)
62
Wilm's Tumor (Nephroblastoma)
Malignant neoplasm of embryonal nephrogenic elements 2-5 years Good prognosis Associated with congenital malformations Tumor resembles developing kidneys
63
Wilm's Tumor: Associated Syndromes
WAGR - Wilm's Tumor, Aniridia, Genitourinary anomalies, mental retardation WT1 Gene Cut surface: bulging, pale, and tan
64
Wilm's Tumor: Histopathology
Components of Wilms tumor (triphasic) Blastema Immature epithelial-abortive tubules, glomeruli Immature stroma (mesenchymal)
65
Wilm's Tumor: Clinical Features
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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