Microcephalic and Macrocephaly Flashcards
Microcephaly Definition
Head circumference < 3SD of the mean for age, sex and gestation
Primary MICROCEPHALY APPEARANCE
🧠⚡ LCOF RF⚡
DUE TO: ⬇️ number of neurons in intrauterine life
LOW CROWN ➕ RECEDING FOREHEAD ➕ OCCIPITAL FLATTENING
Causes of 1 ° MICROCEPHALY
✨Gentic FaNS✨
Genetic syndromes
FAmilial AR
Neuronal Migration Disorders
Structural Disorders
Genetic syndromes cause MICROCEPHALY
🧠⚡Cant See PEFR in Child ⚡
Cornelia de Lange syndrome
Smith Lemli Opitz Syndrome
Patau syndrome
Edward Syndrome
Familial
Rubinstein Taybi Syndrome
Cri Du Chat SYNDROME
Neuronal Migration Defects
🧠⚡ PLS HOLe for neuronal migration⚡
Porencephaly
Lissencephaly
Schizencephaly
Holoprosencephaly
Agenesis of Corpus Callosum
PORENCEPHALY
🧠⚡PORe = Cyst ⚡
Multiple Cystic spaces in brain
Lissencephaly is associated with
🧠✨LISA= GIRLs are smooth =Brain becomes smooth= no gyri sulci✨
✨DICK is also Smooth✨
Agyria
✨ MILLER DIEKER SYNDROME
Schizencephaly
🧠⚡S ⚡
Split Brain
U/L or B/L cleft in Brain
SPASTIC QUADRIPARESIS
SEIZURES
MICROCEPHALY
Very LOW IQ
Holoprosencephaly
🧠⚡C²-HO-P ⚡
Cyclopia
Proboscis
Cleft Lip and Palate
Agenesis of Corpus Callosum is ASSOCIATED with
AICARDI SYNDROME
🧬 MODE OF INHERITENCE 💉 of AICARDI SYNDROME
XLD
AICARDI SYNDROME COMPONENTS
Secondary MICROCEPHALY
APPEARANCE
⬇️ brain size dut to insult to previously NORMAL brain
Small head
May be ➕ or ⛔ at BIRTH
Secondary MICROCEPHALY
CAUSES
🧠⚡ MET PIP⚡
⭐ Endocrine DISORDER - hypothyroidism, hypopituitarism
⭐ Metabolic DISORDER
⭐ Teratogenic drugs
⭐ Infection - TORCH
⭐ Perinatal Insult -HIE, Perinatal Hypoglycemia
⭐ postnatal
Meningitis, trauma, Intracranial bleed
Metabolic Disorders causing MICROCEPHALY 2°
🧠⚡PNG ⚡
Phenylketonuria
Niemann Picks Disease
Gaucher’s Disease
Teratogenic Drugs causing Secondary MICROCEPHALY
Anti epileptixs
Alcohol
Chemotherapeutic drugs
Radiation
Fetal Hydantoin Syndrome
🧠⚡ PHC⚡
Phalanx HYPOPLASTIC
Head SMALL
Cleft lip/ palate
Microencephaly definition
Small brain with ⬇️ ⬇️ parenchyma
ACQUIRED CAUSES OF MICROCEPHALY
🧠⚡RAS ⚡
Rett Syndrome
Angelman syndrome
Seckel Syndrome
➕
Cerebral Palsy
Severe Malnutrition
RETT SYNDROME gene mutation
🧬 MODE OF INHERITENCE 💉
MECP2
XLD
RETT SYNDROME 🧑🏻⚕️ CLINICAL FEATURES
Regression of MILESTONES after 1 year
Deceleration of brain growth
Short stature
Speech problems
Midline Sterotypies - HAND WRINGING MOVEMENTS
ATAXIC GAIT
ATAXIC GAIT SEEN IN
Wheel Chair Bound in adolescence
RETT syndrome
Midline Stereotypies Characteristic feature of
RETT SYNDROME
SECKEL SYNDROME 🧬 MODE OF INHERITENCE 💉
AR
Bird faces seen in
Pierre Robin SYNDROME
SECKEL SYNDROME
MACROCEPHALY
MEGALENCEPHALY
MACROCEPHALY: Head circumference > 3SD
Causes of MACROCEPHALY
Leukodystrophy syndromes
🧠⚡A ke saath A nahi ⚡
Alexander’s disease- GFAP Defect
Canavan’s Disease : Aspartoacylase deficiency
Syndromic Macrocephaly
🧠⚡ Small FoNT⚡
Soto’s SYNDROME
Fragile X SYNDROME
NF1
Tuberous sclerosis
CANAVAN’S DISEASE
Aspartoacylase deficiency
Progressive MACROCEPHALY
Aspartoacylase
Diagnosis of CANAVAN’S Disease
⭐ Blood test for NAA or ASPA
⭐ Cultured FIBROBLASTS
Matalon’s test used for
CANAVAN’S Disease
