Cns

Front 1

Dandy-Walker

Back 1

classic triad:

complete or partial agenesis of the cerebellar vermis,

cystic dilation of the fourth ventricle, and enlarged posterior fossa

Front 2

Joubert syndrome

Back 2

AR.

Devp delay , hypotonia , abnormal eye movement , abnormal respiration ,

Malformation cerebellum & brainstem

molar tooth sign

Front 3

Albetalipoproteinemia

( Bassen-kornzweig disease )

Back 3

AR.

Mutation in microsomal triglyceride transfer protein MTP

Steatoria , FTT ,

Blood smear = acanthocytosis

deacresed cholestrol ,Trigylceride , absent s.B-lipoprotein

Ataxia ,

Retinitis pigmentosa

Front 4

Fredria ataxia

Back 4

High arch feed with ataxia

Front 5

Benign neonatal sleep myoclonus

Back 5

1 st week to 2 months

Front 6

Anti-N methyl-D- Aspartate Receptor Encehphalitis

Back 6

Secon cause of encephalitis after ADEM

Front 7

Rasmussen encephalitis

Back 7

Progressive refractory focal seizure , cognitive denerioration ,

Gradual atrophy one brain hemisphere

Tx Functional hemispherectomy

Front 8

Sandhoff disease

Back 8

deficient levels of hexosaminidases A and B in serum and leukocytes. Children usually die by 3 yr of age. Sandhoff disease is caused by mutations in the HEXB gene located on chromosome 5q13.

seizures, macrocephaly,

and dolllike face. splenomegaly cherry-red spots, and the auditory brainstem responses shows prolonged latencies

Front 9

Krabbe disease

Back 9

optic atrophy

Front 10

Late infantile metachromatic leukodystrophy

Back 10

.

Front 11

secondary intracranial hypertension without an obstructive lesion on MRI

Back 11

Tetracyclines, Sulfonamides, Nalidixic acid, Fluoroquinolones, Corticosteroid therapy and withdrawal, Nitrofurantoin, Cytarabine, Cyclosporine, Phenytoin, Mesalamine, Isotretinoin, Amiodarone, Oral contraceptive pills/implants

Front 12

Susac syndrome

Back 12

Visual loss , Hearing loss sn.

Encephalopathy

Memory loss

MRI findings (Focal and small lesions in supratentorial and infratentorial regions (both white matter and gray matter); involvement of corpus callosum (snowball lesions); leptomeningeal enhancement

Front 13

H. influenzae type b

Back 13

Steroid prevent hearing loss

Front 14

Mumps cause

Back 14

deafness

Front 15

Parecho viruses

Back 15

Normal csf glucose and protein

Front 16

Ocular bobbing

Back 16

pontine lesion

Front 17

Inborn error of metabolism

Back 17

Proton MR spectroscopy MRS

Front 18

Aicardia syndrome

Back 18

Aicardi syndrome represents a complex disorder that affects many systems and is typically associated with agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms

Abnormalities of the retina, including circumscribed pits or lacunae and coloboma of the optic disc, are the most characteristic findings of Aicardi syndrome

Front 19

crouzon syndrome

Back 19

.

Front 20

Plagiocephaly

Back 20

First-born child Prematurity Limited passive neck rotation at birth (e.g., congenital torticollis) Developmental delay Sleep position is supine at birth and at 6 wk Bottle feeding only Tummy time < 3 times/day Lower activity level, slower milestone achievement Sleeping with head to same side, positional preference

Front 21

risk recurrent fever

Back 21

MAJOR Age < 1 yr Duration of fever < 24 hr Fever 38-39°C (100.4-102.2°F) MINOR Family history of febrile seizures Family history of epilepsy Complex febrile seizure Daycare Male gender Lower serum sodium at time of presentation

Front 22

Draved disease

Back 22

vaccine encephalopathy

caused by the mutation and not secondary to the vaccine. This

Front 23

Most frequent cause of febrile status epilepticus

Back 23

HHV-6B

Front 24

Pyridoxine dependent epilepsy

Back 24

Diagnosis is confirmed by the presence of elevated plasma, ur-aminoadipic semialdehyde and elevated plasma and CSF pipecolic acid levels

Front 25

Vigabatrin

Back 25

irreversible visual deficit