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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
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