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Adams 10th Ed > Chap 38 - Developmental Disorders > Flashcards

Chap 38 - Developmental Disorders Flashcards

1
Q

General Priniciples for Developmental Diseases

A

Abn nervous system is accompanied by abn of other structures; non-progressive

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2
Q

Days at which critical for assoc maldevelopment:

1) Syndactyl
2) Meningomyelocele
3) Anencephaly
4) Holoprosencephaly syndactyl, cyclopia

A

1) Syndactyl: before 6 weeks
2) Meningomyelocele: 28 days
3) Anencephaly: 28 days
4) Holoprosencephaly syndactyl, cyclopia: 23 days

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3
Q

Reason why family seek consult:

A

1) Structural cranium defect
2) disturbed motor fxn
3) epilepsy
4) devt delay

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4
Q

Usual causes of hydrocephalic head

A

Type II Chiari

Aqueductal stenosis

Prenatal infection

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5
Q

Hydrocephalus w/ failure of devt of parts of the cerebrum

A

Hydranencephaly

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6
Q

Causes of hydranencephaly

A

1) Cerebral infarction from intrauterine vascular occlusion
2) Perinatal infection (CMV/ Toxo)

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7
Q

Metabolic defects assoc w/ macrocephalic head

A

Alexander’s Disease
Canavan disease
Tay-Sach’s disease

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8
Q

Characteristic MRI/CT finding of agenesis of corpus callosum

A

Batwing lesion

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9
Q

Enlargement of one cerebral hemisphere due to devt abn, clinically w/ devt delay and epilepsy

A

Hemimegalencephaly

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10
Q

T/F. Growth of the cranium is parallel to the direction of involved sutures

A

FALSE - Perpendicular to sutures

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11
Q

Terminology for craniostenoses for the ff:
Coronal
Lamdoid and Coronal
Sagittal
Max length in diagonal plane

A

Brachycephalic
Oxycephalic
Scaphocephalic
Plagiocephalic

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12
Q

Most severe and lethal craniostenosis

A

Cloverleaf-shaped skull

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13
Q

Cortex arise from _____ then migrate along the scaffold of ______ leading to ____ lamination

A

Ventricular zone
Radial glia
Inside out

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14
Q

Non-emergence of two separate cerebral hemisphere

A

Holoprosencephaly

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15
Q

Bihemispheric brain remains small

A

Microcephaly

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16
Q

Excessive number of abnormally small gyri

A
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17
Q

Failure of sulcation of the brain

A
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18
Q

Large convulotions of broad gyral pattern

A
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19
Q

Tumors resulting from abnormal neuronal or glial development

A

Gangliomas, DNETs, Low-grade astrocytoma

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20
Q

Missing large portions of scalp, cranial bones, and brain w/ inc maternal serum levels of AFP & ACHe

A
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21
Q

Craniostenosis (Turribrachycephalic), syndactyl, MR

A

Crouzon Syndrome

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22
Q

Turribrachycephalic, flexed elbows, MR, autosomal dominant

A

Pfeiffer Syndrome

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23
Q

Variable craniosynostosis, prominent anterior fontanel, proptosis, midline facial hypoplasia, MR

A

Crouzon Syndrome

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24
Q

“Skin lesions prone for cancer, microcephaly, hypogonadism, mental retardation as a result of faulty DNA repair

A

Xeroderma pigmentosum

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25
Q

Disorder of fusion of dorsal midline structure occurs during

A

first 3 weeks of postconception

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26
Q

Failure of development of midline cerbellum, w/ or w/o hydrocephalus and corpus callosum agenesis

A

Dandy-Walker Syndrome

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27
Q

Cord remains inside the canal, no external sac, w/ dimple or subcutaenous lipoma

A

Spina Bifida Occulta

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28
Q

Protrusion of the dura only usually at the lumbosacral region

A

Meningocele

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29
Q

Protrusion of the dura and spinal cord usually at the lumbosacral region

A

Myelomeningocele

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30
Q

Greatest risk of Spina bifida

A

Previous pregnancy, other that may cause folic acid deficiency or drugs

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31
Q

Two common complications of spinal defects

A

Meningitis and Progressive hydrocephalus

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32
Q

Unexplained meningitis especially recurrent or nosocomial dermal origin should sought this

A

Sinus tracts in LS or occipital region

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33
Q

Devt cavity w/in cervical cord usually assoc w/ Arnold Chiari malformation

A

Syringomyelia

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34
Q

Consitent features of Chiari malformation

A

1) extrusion of Tongue of cerebllum to medulla and cord
2) caudal displacement of medulla
3) Frequent assoc of syringomyelia or spinal devt abn

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35
Q

Four types of Chiari Malformation:
Type I
Type II
Type III
Type IV

A

Type I: cerebellomedullary descent w/o myelomeningocele
Type II: cerebellomedullary descent w/ myelomeningocele
Type III: occipital or cervical meningmyelocele
Type IV: cerebellar hypoplasia

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36
Q

Symptoms of Type I Chiari which occurs during adolescence

A

1) ICP
2) Progressive cerebellar ataxia
3) Progressive spastic quadriparesis
4) Downbeating nystagmus
5) Syringomyelia

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37
Q

Treatment for Chiari Malformation

A

BEST IS TO DO NOTHING

But if symptoms progressive, upper cervical laminectomy or enlargement of foramen magnum

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38
Q

Triad of adenoma sebaceum, epilepsy, developmental delay

A

Tuberous Sclerosis

39
Q

Abnormal gene assoc w/ Tuberous Sclerosis

A

Chrom 9q: TSC 1 (hamartin)

Chrom 16p: TSC 2 (tuberin)

Both act as tumor suppression gene

40
Q

Pathognomonic for Tuberous sclerosis

A

Adenoma sebaceum

41
Q

Clinical manifestation of NF 1

A

cafe-au-lait spots

Integumentary freckles

Lisch nodules

Bony lesions

Neurofibromas

Optic gliomas

42
Q

Diffrentiate NF 1 from NF 2

A

NF 1: peripheral (neurofibromin gene), optic glioma

NF2: central (schwannomin gene), bilateral acoustic schwannoma, absence or paucity of cutaneous lesions

43
Q

Charateristic pathologic feature of both NF1 & 2

A

Verocay bodies

44
Q

Difference of Antoni A & B

A

Both seen in Schwannoma

45
Q

Sensorimotor sz contralateral to facial port-wine mark w/ calcification of cerebral hemisphere ipsilateral to skin lesion

A

Sturge-Weber Syndrome

46
Q

T/F. The calcification in Sturge-Weber is not in the blood vessels but in the 2nd-3rd layer of cortex.

A

TRUE

47
Q

Involvement of this part is of great importance as it is always associated w/ cerebral lesions in Sturge Weber

A

Upper eyelids

48
Q

Most frequent clinical manifestation of Sturge-Weber

A

Focal seizure w/spastic hemiparesis, hemiatrophy, hemisensory defect

49
Q

Responsible gene for Sturge-Weber Syndrome

A

GNAQ

50
Q

AD trait due to defect in vessel wall causing bleeding in different parts of the body including the brain w/ cutaneous manifestation of cutaneous telangectasia and unexplained anemia

A

Osler-Rendu-Weber Disease (Hereditary Hemorrhagic Telangiectasia)

51
Q

Two mutant genes involved in Hereditary Hemorrhagic Telangiectasia

A

Endoglin & novel kinase

52
Q

Genetic diseaese causing multiple neoplasms specifically hemangioblastomas, renal CA, pheochromocytoma.

A

von Hippel-Lindau (VHL) Disease

53
Q

Most common area of hemangioblastoma that develops in the fourth decade of life in VHL disease

A

Cerebellum

54
Q

Causative mutation for von Hippel-Lindau Disease

A

VHL gene in chrom 3

55
Q

Progressive ataxia with humoral immune deficiency and telangiectasias due to faulty defective repair of DNA

A

Ataxia-telangiectasia (Louis-Bar Syndrome)

56
Q

Congenital facial diplegia and occ abducens palsy in a newborn due to lack of facial nerve nucleus and other nerves.

A

Mobius syndrome

57
Q

Congenital defect in turning the eye to either side volitionally, but w/ tonic movt of eyes on caloric testing and vertical movement intact.

A

Cogan Oculomotor Apraxia

58
Q

Catastrophic decline in cerebral function preceded by respiratory distress occuring in low BW and premature infants (<35 wks)

A

Germinal Matrix Hemorrhage

59
Q

Probable mechanism of germinal matrix bleed

A

Increased pressure in the thin-walled veins of the germinal matrix due to period of unstable arterial or venous pressures sec to pulmonary disorders

60
Q

Drugs that may prevent matrix hemorrhages in periventricular leukomalacia

A

Indomethacin
Vit E
Steroids

61
Q

The germinal matrix is supplied by what arteries

A

Lenticulostriate arteries
Choroidal
Recurrent artery of Heubner

62
Q

Features of MILD HIE in neonates

A

Symptoms maximal in first 24 hrs
Jitter baby and hypereflexic
EEG normal
Handicap is low

63
Q

Features of MODERATE HIE in neonates

A

Llethargic obtunded, hypotonic w/ normal movt
May improve after 48-72 hrs
EEG abn

64
Q

Features of SEVERE HIE in neonates

A

Stupor or coma, hypotonic

65
Q

Most frequent motor disorder evolving from four major neonatal cerebral disease

A

Spastic diplegia (Little disease)

66
Q

Four major neonatal cerebral disease causing spastic diplegia

A

Matrix hemorrhage
Periventricular leukomalacia
HIE
Kernicterus

67
Q

Severe spastic quadriplegia is caused by

A

Intrapartum asphyxia
Attendant fetal distress

68
Q

Quadriplegic differs from the bilateral hemiplegia by

A

Present bulbar involvement in latter

69
Q

Most frequent congenital extrapyramidal disorders

A

Double athetosis

70
Q

Usual causes of double athetosis

A

Hyperbilirubinemia
HIE

71
Q

T/F. Early hypotonia followed by delayed motor devt is the usual rule in double athetosis

A

TRUE

72
Q

Most frequent neuropathologic finding in souble athetosis, which represents foci of nerve cell loss and gliosis w/ condensation of bands transversing myelinated fibers

A

Status marmoratus

73
Q

Neonates who die in the acute postnatal stage of kernicturus show a unique yellow stain in nuclear mass called

A

Kern Nuclei

74
Q

Level of serum bilirubin level target to prevent neurologic sequelae in term and pre-term infants

A

Term: 20 mg/dL
Pre-term: 10mg/dL

75
Q

Central feature of the disease is dygenesis of vermis, devt delay, ep hyperpnea, jerky eye movt, unsteady gait that is familial

A

Joubert syndrome

76
Q

MRI characteristic of Joubert syndrome is

A

Molar tooth sign

77
Q

Combination of aniridia, cerebellar ataxia, devt delay

A

Gillespie syndrome

78
Q

Devt delay, microcephaly, spasticity, optic hypoplasia, myoclonic ataxia

A

Paine syndrome

79
Q

Upper plexus injury

A

Erb palsy

80
Q

Lower plexus injury

A

Klumpke palsy

81
Q

Until what month does large microbial organism invade the embryo

A

3rd-4th month of gestation

82
Q

LATCH in congenital infection

A

Listerria
AIDS
Toxoplasomosis
CMV
HSV (type 2)

83
Q

Tetrad diagnosis of congenital rubella

A

Cataracts
Deafness
Congenital heart disease
Devt delay

84
Q

Congenital rubella infection occur in

A

First 10 weeks of gestation

85
Q

Diagnosis can be verified for congenital rubella through

A

IgM positive
Isolation of virus from urine, throat, stool CSF

86
Q

Most frequent intrauterine viral infection rivaled by HIV

A

CMV

87
Q

T/F. Presence of antibodies before conception protects against congenital CMV infection

A

TRUE

88
Q

HIV infection and AIDS occur in infants born to HIV positive mothers by

A

15-30%

89
Q

Most frequent cause of meningoencephalitis in utero or in perinatal period

A

Congenital Toxoplasmosis

90
Q

Most reliable means to diagnose Congenital toxoplasmosis

A

IgM indirect fluoroscent antibody test from umbilical cord blood

91
Q

Syphillis may be transmitted to fetus at

A

4th-7th month

92
Q

Hereditary devt delay that affect girls, presenting as autism, dementia, ataxia, and loss of purposeful hand movt of w/c happens after 6-18 mos of normal devt

A

Rett Syndrome

93
Q

Asocial, lacking in communicative skills both verbal and nonverbal , committed to repetitive ritualistic behavior

A

Autism

94
Q

Drug used in autism that may benefit w/ repetitive behavior and mood swings

A

SSRI (Fluoxetine,Citalopram)

Adams 10th Ed (8 decks)

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