Diseases of childhood

Michal Palkovič, M.D., PhD., MSc.

Main diseases

⚫ Inborn diseases and defects

⚫ Inflammations

⚫ Skin diseases

⚫ Tumors

Childhood

⚫ Prenatal period (280 days)

⚫ embryonal (8 weeks)

⚫ fetal (until birth)

⚫ Postnatal period

⚫ Newborn period (from birth – 28 days)

⚫ Suckling period (from 29. day – until 1st birthday)

⚫ Toddler period (1. – 3. year)

⚫ Preschool period (3. – 6. year)

⚫ School period

⚫ 6. – 12. y. – Early school period

⚫ 12. – 15. y, – Late school period

⚫ Adolescence (15. – 18. year)

Inborn diseases and defects⚫ Anencefalus a podobné vrodené chyby

⚫ Encefalokéla

⚫ Mikrocefalia

⚫ Kongenitálny hydrocefalus

⚫ Iné vrodené chyby mozgu

⚫ Spina bifida

⚫ Iné vrodené chyby miechy

⚫ Iné vrodené chyby nervového systému

⚫ Vrodené chyby mihalnice, slzných orgánov a očnice

⚫ Anoftalmus, mikroftalmus, makroftalmus

⚫ Vrodené chyby šošovky

⚫ Vrodené chyby predného segmentu oka

⚫ Vrodené chyby zadného segmentu oka

⚫ Iné vrodené chyby oka

⚫ Vrodené chyby ucha zapríčiňujúce zhoršenie počutia

⚫ Iné vrodené chyby ucha

⚫ Iné vrodené chyby tváre a krku

⚫ Vrodené chyby srdcových dutín a ich spojenia

⚫ Vrodené chyby srdcových priehradiek

⚫ Vrodené chyby pulmonálnej a trikuspidálnej chlopne

⚫ Vrodené chyby aortálnej a mitrálnej chlopne

⚫ Iné vrodené chyby srdca

⚫ Vrodené chyby veľkých artérií

⚫ Vrodené chyby veľkých žíl

⚫ Iné vrodené chyby periférnej cievnej sústavy

⚫ Iné vrodené chyby obehovej sústavy

⚫ Vrodené chyby nosa

⚫ Vrodené chyby hrtana

⚫ Vrodené chyby priedušnice a priedušiek

⚫ Vrodené chyby pľúc

⚫ Iné vrodené chyby dýchacích orgánov

⚫ Rázštep podnebia

⚫ Rázštep pery

⚫ Rázštep podnebia s rázštepom pery

⚫ Iné vrodené chyby jazyka, úst a hltana

⚫ Vrodené chyby pažeráka

⚫ Iné vrodené chyby hornej tráviacej rúry

⚫ Vrodené chýbanie, bezústie (atrézia) a zúženie tenkého čreva

⚫ Vrodené chýbanie, bezústie (atrézia) a zúženie hrubého čreva

⚫ Iné vrodené chyby čreva

⚫ Vrodené chyby žlčníka, žlčových vývodov a pečene

⚫ Iné vrodené chyby tráviacej sústavy

⚫ Vrodené chyby vaječníkov, vajíčkovodov a širokých väzov maternice

Vrodené chyby maternice a krčka maternice

Iné vrodené chyby ženských pohlavných orgánov

Nezostúpený semenník

Hypospádia

Iné vrodené chyby mužských pohlavných orgánov

Neurčité pohlavie a pseudohermafroditizmus

Agenéza a iné redukčné defekty obličiek

Cystická choroba obličiek

Vrodené obštrukčné chyby obličkovej panvičky a vrodené

chyby močovodu

Iné vrodené chyby obličiek

Iné vrodené chyby močovej sústavy

Vrodené deformácie bedier

Vrodené deformácie nôh

Vrodené deformácie svalov a kostí hlavy, tváre, chrbtice a

hrudníka

Iné vrodené deformácie svalov a kostí

Polydaktýlia

Syndaktýlia

Redukčné defekty hornej končatiny

Redukčné defekty dolnej končatiny

Redukčné defekty nešpecifikovanej končatiny

Iné vrodené chyby končatiny (končatín)

Iné vrodené chyby kostí lebky a tváre

Vrodené chyby chrbtice a kostí hrudníka

Osteochondrodysplázia s poruchami rastu dlhých kostí a

chrbtice

Iné osteochondrodysplázie

Vrodené chyby svalov a kostí nezatriedené inde

Vrodená ichtyóza

Epidermolysis bullosa

Iné vrodené chyby kože

Vrodené chyby prsníka

Iné vrodené chyby spoločnej (kožnej) pokrývky (integumentum

commune)

Fakomatózy nezatriedené inde

Inborn diseases and defects

⚫ Developmental defects

⚫ Karyotypic (chromos.) defects

⚫ Mendelian defects (single–gene)

⚫ Multi-gene & Multi-factorial disorders

Developmental defects

⚫ Teratogens – Malformations

⚫ Individual susceptibility

⚫ Stage of development

⚫ Dose

⚫ Specificity

Developmental defects

⚫ Structural (organic) changes – IUD, IUGR⚫ Agenesis

⚫ Aplasia

⚫ Hypoplasia

⚫ Atresia

⚫ Dysplasia

⚫ Anomalies

⚫ Ectopia, heterotopia

⚫ Functional changes – Storage diseases

⚫ Glycogen, MPS, Sulfatidoses, Lipidosis

• Spina bifida

• Thalidomid, Hydantoin, Alcohol

• TORCH – Toxo, other, Rubella, Cytom.,

Herpes (Syphilis, varicella-zoster,

parvovirus B19)

Chromosomal abnormalities⚫ Numerical abnormalities

• Klinefelter´s syndrome (47t, XXY)

• Down´s syndrome (21t)

• Turner´s syndrome (45, X0)

Chromosomal abnormalities⚫ Structural abnormalities

Translocation – Philadelphia ch. – chronic myeloid leukemia

Deletions – Cri du chat, hereditary retinoblastoma, Wilm´s tumor

Inversion – no abnormalities yet identified

Inborn diseases and defects –

Heart Malformations

⚫ Tetralogy of Fallot (TOF) - is a congenital

cyanotic heart defect always involving four

anatomical abnormalities

⚫ most common - 55-70%, blue baby syndrome

http://upload.wikimedia.org/wikipedia/commons/e/e6/Tetralogy_of_Fallot.svg

Childhood

⚫ Prenatal period (280 days)

⚫ embryonal (8 weeks)

⚫ fetal (until birth)

⚫ Postnatal period

⚫ Newborn period (from birth – 28 days)

⚫ Suckling period (from 29. day – until 1st birthday)

⚫ Toddler period (1. – 3. year)

⚫ Preschool period (3. – 6. year)

⚫ School period

⚫ 6. – 12. rok – Early school period

⚫ 12. – 15. rok – Late school period

⚫ Adolescence (15. – 18. year)

Postnatal period

⚫ Suckling period

- second highest risk period concerning morbidity and mortality

- increase in infectious diseases

- anemia resulting from iron deficiency

⚫ Toddler period

- illness is low

⚫ Preschool period

- illness is relatively low, but children in groups (kindergarten) are more ill

- less injuries than in toddler or school periods

⚫ School period

- psychiatric diseases rise (suicide, addictions – drugs, smoking, alcohol

⚫ Adolescence

- illness not high

- risk of injuries is higher

- psychiatric diseases – drug addictions

Postnatal diseases

⚫ Fetal erytroblastosis

⚫ Amniotic fluid aspiration

⚫ Hyaline membrane lung disease

Postnatal diseases - Fetal

erytroblastosis

⚫ due to Rh incompatibility

⚫ hydrops fetus universalis

⚫ icterus neonati gravis (non-conjugated

bilirubin- kernicterus)

⚫ anemia neonati

Postnatal diseases - Amniotic

fluid aspiration

⚫ due to respiratory center irritation by anoxia,

or cerebral damage during delivery

⚫ aspiration of corpuscular parts of amniotic

fluid

⚫ in case of amniotic fluid infection may result

in amniotic fluid pneumonia

Postnatal diseases - Hyaline

membrane lung disease

⚫ due to prematurity, immature pneumocytes II.

type producing surfactant (anti-atelectasis

factor)

⚫ idiopathic respiratory distress syndrome

(IRDS)

⚫ convulsive respiratory shortness with

cyanosis, apnoe and newborn atonia

Inflammations

⚫ Infectious vs. non-infectious

⚫ Middle ear infections (ottitis interna)

⚫ Respiratory infections

⚫ Adenoid vegetations

⚫ Rinosinusitis

⚫ Asthma bronchiale

⚫ Pneumonias

⚫ Abdominal infections (IBD)

⚫ Appendicitis

⚫ Rotavirus gastroenteritis

⚫ Kidney and urinary tract infections / defects

⚫ Bacterial infections

⚫ Inborn and acquired tubulopathies

⚫ Parasites

⚫ Pinworm - Entrobius vermicularis (formerly Oxyuris vermicularis)

⚫ Ascaris lumbricoides

⚫ Toxocarosis

⚫ Taenie saginata and Taenie nana

Skin diseases

⚫ Impetigo contagiosa

⚫ Pediculosis

⚫ Scabies

⚫ Fungi

⚫ Warts

⚫ Acne vulgaris

⚫ Furunculus, carbunclus

⚫ Herpes simplex

⚫ Alopecia areata

⚫ Psoriasis

⚫ Erythema infectiosum

⚫ Eczema

⚫ Seborrheic dermatitis

Tumor of childhood - Benign

⚫ Benign tumors

⚫ Haemangioma / Lymphangioma

⚫ Teratomas

⚫ Tumors of connective tissue

⚫ Tumor-Like leasons

⚫ Naevi

⚫ Hepatocelular adenoma

⚫ Rabdomyoma

Tumor of childhood - Malignant

⚫ Leukemia

⚫ CNS Tumor

⚫ Lymphoma

⚫ Neuroblastoma

⚫ Kidney tumors

⚫ Rabdomyosarcoma

(Botryoid sarcoma)

⚫ Osteosarcoma

⚫ Retinoblastoma

⚫ Ewing’s sarcoma

⚫ Hepatoblastoma

⚫ Germinal tumors

Tumor of childhood

⚫ Leukemia – 35%

⚫ lymphoblastic – B type - 85%, T type 15%

⚫ myeloid – rare (Down. sy)

⚫ CNS Tumor – 28%

⚫ juvenile astrocytoma

⚫ meduloblastoma

⚫ craniopharyngioma

⚫ ependymoma, papiloma of chorioid plexus

⚫ Lymphoma – 11%

⚫ T-lymphoblastic lymphoma of thymus

⚫ T-anaplastic large cell lymphoma

⚫ Hodgkin lymphoma

Tumor of childhood

⚫ Neuroblastoma

⚫ 4-6 y., highly malignant, bad prognosis (50%)

⚫ arises from sympathetic nerves, retroperitoneum

⚫ low dif. tumor - produces catecholamines

⚫ Kidney tumors (6 %)

⚫ Wilms tumor (nephroblastoma)

⚫ 90% curable, most common kidney tumor (2-5 y. peak)

⚫ Mesoblastic nephroma

⚫ bening, infiltrative, surgical treatement

⚫ Rabdomyosarcoma (6 %)

⚫ embryonal (sarcoma botryoides), aggressive, under mucosa (kidney, pharynx, ear)

⚫ alveolar, highly malignant, retroperitoneum

Tumor of childhood

⚫ Osteosarcoma (3 %)

⚫ large bones

⚫ Retinoblastoma

⚫ arises from cells of neuroepithelial origin in the region of

retina

⚫ sporadic, familiar

⚫ Ewing’s sarcoma (2%)

⚫ PNET

⚫ from cells of bone marrow, blastic tumor with diff.

blockade

⚫ Hepatoblastoma

Tumor of childhood

⚫ Germinal Cell Tumor⚫ most commonly arising from gonads

⚫ encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers

⚫ germinomatous⚫ dysgerminoma

⚫ seminoma(Malignant Sheets of uniform polygonal cells with cleared cytoplasm; lymphocytes

in the stroma 10% have elevated hCG)

⚫ nonseminomatous⚫ Embryonal carcinoma

⚫ Endodermal sinus tumor

⚫ Choriocarcinoma

⚫ Teratoma

⚫ Polyembryoma

⚫ Gonadoblastoma