Microcephalic and Macrocephaly

Question 1

Microcephaly Definition

Answer 1

Head circumference < 3SD of the mean for age, sex and gestation

Question 2

Primary MICROCEPHALY APPEARANCE
🧠⚡ LCOF RF⚡

Answer 2

DUE TO: ⬇️ number of neurons in intrauterine life
LOW CROWN ➕ RECEDING FOREHEAD ➕ OCCIPITAL FLATTENING

Question 3

Causes of 1 ° MICROCEPHALY
✨Gentic FaNS✨

Answer 3

Genetic syndromes
FAmilial AR
Neuronal Migration Disorders
Structural Disorders

Question 4

Genetic syndromes cause MICROCEPHALY
🧠⚡Cant See PEFR in Child ⚡

Answer 4

Cornelia de Lange syndrome
Smith Lemli Opitz Syndrome
Patau syndrome
Edward Syndrome
Familial
Rubinstein Taybi Syndrome
Cri Du Chat SYNDROME

Question 5

Neuronal Migration Defects
🧠⚡ PLS HOLe for neuronal migration⚡

Answer 5

Porencephaly
Lissencephaly
Schizencephaly
Holoprosencephaly
Agenesis of Corpus Callosum

Question 6

PORENCEPHALY
🧠⚡PORe = Cyst ⚡

Answer 6

Multiple Cystic spaces in brain

Question 7

Lissencephaly is associated with
🧠✨LISA= GIRLs are smooth =Brain becomes smooth= no gyri sulci✨
✨DICK is also Smooth✨

Answer 7

Agyria
✨ MILLER DIEKER SYNDROME

Question 8

Schizencephaly
🧠⚡S ⚡

Answer 8

Split Brain
U/L or B/L cleft in Brain

SPASTIC QUADRIPARESIS
SEIZURES
MICROCEPHALY
Very LOW IQ

Question 9

Holoprosencephaly
🧠⚡C²-HO-P ⚡

Answer 9

Cyclopia
Proboscis
Cleft Lip and Palate

Question 10

Agenesis of Corpus Callosum is ASSOCIATED with

Answer 10

AICARDI SYNDROME

Question 11

🧬 MODE OF INHERITENCE 💉 of AICARDI SYNDROME

Answer 11

XLD

Question 12

AICARDI SYNDROME COMPONENTS

Answer 12

Question 13

Secondary MICROCEPHALY
APPEARANCE

Answer 13

⬇️ brain size dut to insult to previously NORMAL brain

Small head
May be ➕ or ⛔ at BIRTH

Question 14

Secondary MICROCEPHALY
CAUSES
🧠⚡ MET PIP⚡

Answer 14

⭐ Endocrine DISORDER - hypothyroidism, hypopituitarism
⭐ Metabolic DISORDER
⭐ Teratogenic drugs
⭐ Infection - TORCH
⭐ Perinatal Insult -HIE, Perinatal Hypoglycemia
⭐ postnatal
Meningitis, trauma, Intracranial bleed

Question 15

Metabolic Disorders causing MICROCEPHALY 2°
🧠⚡PNG ⚡

Answer 15

Phenylketonuria
Niemann Picks Disease
Gaucher’s Disease

Question 16

Teratogenic Drugs causing Secondary MICROCEPHALY

Answer 16

Anti epileptixs
Alcohol
Chemotherapeutic drugs
Radiation

Question 17

Fetal Hydantoin Syndrome
🧠⚡ PHC⚡

Answer 17

Phalanx HYPOPLASTIC
Head SMALL
Cleft lip/ palate

Question 18

Microencephaly definition

Answer 18

Small brain with ⬇️ ⬇️ parenchyma

Question 19

ACQUIRED CAUSES OF MICROCEPHALY
🧠⚡RAS ⚡

Answer 19

Rett Syndrome
Angelman syndrome
Seckel Syndrome
➕
Cerebral Palsy
Severe Malnutrition

Question 20

RETT SYNDROME gene mutation
🧬 MODE OF INHERITENCE 💉

Answer 20

MECP2
XLD

Question 21

RETT SYNDROME 🧑🏻‍⚕️ CLINICAL FEATURES

Answer 21

Regression of MILESTONES after 1 year
Deceleration of brain growth
Short stature
Speech problems
Midline Sterotypies - HAND WRINGING MOVEMENTS
ATAXIC GAIT

Question 22

ATAXIC GAIT SEEN IN

Answer 22

Wheel Chair Bound in adolescence
RETT syndrome

Question 23

Midline Stereotypies Characteristic feature of

Answer 23

RETT SYNDROME

Question 24

SECKEL SYNDROME 🧬 MODE OF INHERITENCE 💉

Answer 24

AR

Question 25

Bird faces seen in

Answer 25

Pierre Robin SYNDROME
SECKEL SYNDROME

Question 26

MACROCEPHALY
MEGALENCEPHALY

Answer 26

MACROCEPHALY: Head circumference > 3SD

Question 27

Causes of MACROCEPHALY

Answer 27

Question 28

Leukodystrophy syndromes
🧠⚡A ke saath A nahi ⚡

Answer 28

Alexander’s disease- GFAP Defect
Canavan’s Disease : Aspartoacylase deficiency

Question 29

Syndromic Macrocephaly
🧠⚡ Small FoNT⚡

Answer 29

Soto’s SYNDROME
Fragile X SYNDROME
NF1
Tuberous sclerosis

Question 30

CANAVAN’S DISEASE

Answer 30

Aspartoacylase deficiency

Question 31

Progressive MACROCEPHALY

Answer 31

Aspartoacylase

Question 32

Diagnosis of CANAVAN’S Disease

Answer 32

⭐ Blood test for NAA or ASPA
⭐ Cultured FIBROBLASTS

Question 33

Matalon’s test used for

Answer 33

CANAVAN’S Disease