Chap 38 - Developmental Disorders Flashcards by Josh Abejero

General Priniciples for Developmental Diseases

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

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Days at which critical for assoc maldevelopment:

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

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

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Reason why family seek consult:

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

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Usual causes of hydrocephalic head

Type II Chiari

Aqueductal stenosis

Prenatal infection

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Hydrocephalus w/ failure of devt of parts of the cerebrum

Hydranencephaly

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Causes of hydranencephaly

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

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Metabolic defects assoc w/ macrocephalic head

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

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Characteristic MRI/CT finding of agenesis of corpus callosum

Batwing lesion

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

Hemimegalencephaly

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

FALSE - Perpendicular to sutures

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

Brachycephalic
Oxycephalic
Scaphocephalic
Plagiocephalic

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Most severe and lethal craniostenosis

Cloverleaf-shaped skull

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

Ventricular zone
Radial glia
Inside out

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Non-emergence of two separate cerebral hemisphere

Holoprosencephaly

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Bihemispheric brain remains small

Microcephaly

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Excessive number of abnormally small gyri

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Failure of sulcation of the brain

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Large convulotions of broad gyral pattern

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Tumors resulting from abnormal neuronal or glial development

Gangliomas, DNETs, Low-grade astrocytoma

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

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Craniostenosis (Turribrachycephalic), syndactyl, MR

Crouzon Syndrome

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Turribrachycephalic, flexed elbows, MR, autosomal dominant

Pfeiffer Syndrome

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

Crouzon Syndrome

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

Xeroderma pigmentosum

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Disorder of fusion of dorsal midline structure occurs during

first 3 weeks of postconception

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

Dandy-Walker Syndrome

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

Spina Bifida Occulta

Protrusion of the dura only usually at the lumbosacral region

Meningocele

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

Myelomeningocele

Greatest risk of Spina bifida

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

Two common complications of spinal defects

Meningitis and Progressive hydrocephalus

Unexplained meningitis especially recurrent or nosocomial dermal origin should sought this

Sinus tracts in LS or occipital region

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

Syringomyelia

Consitent features of Chiari malformation

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

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

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

Symptoms of Type I Chiari which occurs during adolescence

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

Treatment for Chiari Malformation

BEST IS TO DO NOTHING But if symptoms progressive, upper cervical laminectomy or enlargement of foramen magnum

Triad of adenoma sebaceum, epilepsy, developmental delay

Tuberous Sclerosis

Abnormal gene assoc w/ Tuberous Sclerosis

Chrom 9q: TSC 1 (hamartin) Chrom 16p: TSC 2 (tuberin) Both act as tumor suppression gene

Pathognomonic for Tuberous sclerosis

Adenoma sebaceum

Clinical manifestation of NF 1

cafe-au-lait spots Integumentary freckles Lisch nodules Bony lesions Neurofibromas Optic gliomas

Diffrentiate NF 1 from NF 2

NF 1: peripheral (neurofibromin gene), optic glioma NF2: central (schwannomin gene), bilateral acoustic schwannoma, absence or paucity of cutaneous lesions

Charateristic pathologic feature of both NF1 & 2

Verocay bodies

Difference of Antoni A & B

Both seen in Schwannoma

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

Sturge-Weber Syndrome

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

TRUE

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

Upper eyelids

Most frequent clinical manifestation of Sturge-Weber

Focal seizure w/spastic hemiparesis, hemiatrophy, hemisensory defect

Responsible gene for Sturge-Weber Syndrome

GNAQ

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

Osler-Rendu-Weber Disease (Hereditary Hemorrhagic Telangiectasia)

Two mutant genes involved in Hereditary Hemorrhagic Telangiectasia

Endoglin & novel kinase

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

von Hippel-Lindau (VHL) Disease

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

Cerebellum

Causative mutation for von Hippel-Lindau Disease

VHL gene in chrom 3

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

Ataxia-telangiectasia (Louis-Bar Syndrome)

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

Mobius syndrome

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

Cogan Oculomotor Apraxia

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

Germinal Matrix Hemorrhage

Probable mechanism of germinal matrix bleed

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

Drugs that may prevent matrix hemorrhages in periventricular leukomalacia

Indomethacin Vit E Steroids

The germinal matrix is supplied by what arteries

Lenticulostriate arteries Choroidal Recurrent artery of Heubner

Features of MILD HIE in neonates

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

Features of MODERATE HIE in neonates

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

Features of SEVERE HIE in neonates

Stupor or coma, hypotonic

Most frequent motor disorder evolving from four major neonatal cerebral disease

Spastic diplegia (Little disease)

Four major neonatal cerebral disease causing spastic diplegia

Matrix hemorrhage Periventricular leukomalacia HIE Kernicterus

Severe spastic quadriplegia is caused by

Intrapartum asphyxia Attendant fetal distress

Quadriplegic differs from the bilateral hemiplegia by

Present bulbar involvement in latter

Most frequent congenital extrapyramidal disorders

Double athetosis

Usual causes of double athetosis

Hyperbilirubinemia HIE

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

TRUE

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

Status marmoratus

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

Kern Nuclei

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

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

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

Joubert syndrome

MRI characteristic of Joubert syndrome is

Molar tooth sign

Combination of aniridia, cerebellar ataxia, devt delay

Gillespie syndrome

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

Paine syndrome

Upper plexus injury

Erb palsy

Lower plexus injury

Klumpke palsy

Until what month does large microbial organism invade the embryo

3rd-4th month of gestation

LATCH in congenital infection

Listerria AIDS Toxoplasomosis CMV HSV (type 2)

Tetrad diagnosis of congenital rubella

Cataracts Deafness Congenital heart disease Devt delay

Congenital rubella infection occur in

First 10 weeks of gestation

Diagnosis can be verified for congenital rubella through

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

Most frequent intrauterine viral infection rivaled by HIV

CMV

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

TRUE

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

15-30%

Most frequent cause of meningoencephalitis in utero or in perinatal period

Congenital Toxoplasmosis

Most reliable means to diagnose Congenital toxoplasmosis

IgM indirect fluoroscent antibody test from umbilical cord blood

Syphillis may be transmitted to fetus at

4th-7th month

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

Rett Syndrome

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

Autism

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

SSRI (Fluoxetine,Citalopram)