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Microcephaly - For medical students
- 1. Microcephaly By/ Asmaa Usama NagiMedical student at SFM
- 2. HC measures >3SD below the mean for age and sex. This condition is relatively common, ** in children with developmental delay. In microcephaly there are abnormalities in neuronal migration during fetal development. Including:- • Heteropias of neuronal cells • Cyto-architectural derangements Primary (genetic) Secondary Usually has no associated malformations. Follow a mendelian pattern. Or are associated with specific genetic syndromes. 1. Syndromes. 2. Congenital infections. 3. Other causes. Microcephaly
- 4. Primary (genetic) Microcephaly Usually have no associated malformations. Follow a mendelian pattern of inheritance. Or are associated with specific genetic syndromes. Affected infants are usually identified at birth. --Most commonly familial & AD (autosomal dominant). --A series of chromosomal disorders --AR (autosomal recessive): MCPH (microcephaly primary hereditary). At least 7 gene loci are present. X-linked microcephaly, caused by gene mutations that lead to severe structural brain malformations as: Lissencephaly Holoprosencephaly Polymicrogyria Cobblestone dysplasia Pontocerebellar hypoplasia Neuronal heteropia
- 7. Holoprosencephaly: The forebrain of the embryo fails to develop into 2 hemispheres.
- 10. Neuronal heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, Heterotopia means "out of place.
- 12. Familial (AR) Typical appearance. Slanted forehead. Prominent nose & ears. Severe MR Prominent seizures • Surface convolutional markings. • Poorly differentiated & disorganized cytoarchitecture. AD Non distinctive facies. Upslanting palpebral fissures. Mild forehead slanting. Prominent ears. Normal linear growth. Mild or borderline MR Seizures readily controlled.
- 13. AD microcephaly Non distinctive facies. Upslanting palpebral fissures. Mild forehead slanting. Prominent ears.
- 14. Familial microcephalyTypical appearance. Slanted forehead. Prominent nose & ears.
- 15. Cri-du-chat (5 p-) Round face Prominent epicanthic folds Low-set ears hypertelorism Characteristic cry No specific neuropathology. Down syndrome (Trisomy 21) 1-Abnormal rounding of the occipital & frontal lobes. 2-Narrow superior temporal gyrus. 3-Small cerebellum. Propensity for Alzheimer neurofibrillary alterations & ultrastructure abnormalities of the CC. Edward Syndrome (Trisomy 18) LBW Microstomia Micrognathia Low-set malformed ears Prominent occiput Rocker-bottom feet Flexion deformities of fingers CHD Increased gyri Heteropias
- 17. LBW Microstomia Micrognathia Low-set malformed ears Prominent occiput Rocker-bottom feet Flexion deformities of fingers
- 18. Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. Round face Prominent epicanthic folds Low-set ears hypertelorism
- 19. Cri-du-chat (5 p-) Round face. Prominent epicanthic folds. Low-set ears. Hypertelorism. Characteristic cry. No specific neuropathology.
- 20. Secondary microcephaly “4” syndromes 1-Rett. 2-Seckel. 3-Angelman. 4-Encephalopathy syndromes associated e Severe seizure disorders. Congenital infections CMV Rubella Toxoplasmosis Fetal alcohol Fetal hydantoin Radiation Meningitis Metabolic Hyperthermia HIE ~Malnutrition
- 22. Congenital infections CMV Rubella Toxoplasmosis Chorioretinitis Deafness Cataract Chorioretinitis Deafness Toxoplasma gondii Small for date baby CHD Purpura Hepatosplenomegaly Jaundice Mental retardation Seizures Growth retardation Convulsions Petechial rash hepatosplenomegaly Purpura thrombocytopenia Hepatosplenomegaly Hydrocephalus Cerebral calcification Chorioretinitis CNS calcification & microgyria. Perivascular necrosis Polymicrogyria, heteropia, Sebependymal cavitation
- 25. seizures
- 30. Ptosis Absent philtrum Hypoplastic upper lip CHD Feeding problems Growth retardation Neuroglial heteropia Disorganization of neurons
- 33. 1-Inner epicanthic folds. 2-Broad nasal ridge. 3-Anteverted nostrils. 4-Hypoplasia of distal phalanges. 5-Growth delay.
- 35. ** before 15 weeks of gestation (1st trimester) Meningitis/encephalitis Cerebral infarcts. Cystic cavitation. Diffuse loss of neurons. Maternal D.M. Maternal hyperphenylalaninemia. Significant fever during the 1st 4-6 weeks after birth Initially Diffuse cerebral edema Late Cerebral atrophy Is a controversial cause. RMHOther causes of microcephaly:
- 37. History & clinical examination A thorough family history should be taken , seeking additional cases of microcephaly or disorders affecting the nervous system. It’s important to measure the patient’s head circumference (HC) at birth to diagnose microcephaly as early as possible. The HC of each parent and sibling should be recorded.
- 38. • A very small HC implies a process than began early in embryonic or fetal development. • An insult to the brain that occurs later in life, particularly beyond the age of 2 years, is less likely to produce severe microcephaly. Serial HC measurements are more meaningful than a single determination, particularly when the abnormality is minimal.
- 39. The prominent features of Microcephaly
- 40. Imaging MRI CT Can show:- Lissencephaly. Intracerebral calcification. Pachygyria Polymicrogyria. Laboratory 1-Mother’s serum phenylalanine High phenylalanine serum levels in an asymptomatic mother can produce marked brain damage in an otherwise normal non- phenylketonuric infant. 2-Karyotyping & comparative genome hybridization study 3-Whole genome sequence. Additional studies Amino acid analysis Fasting. Plasma & urine. Serum ammonia --TORCH --HIV Tests in the mother & child. CMV culture From urine sample Investigations for a cases of microcephaly
- 41. &