Peds Flashcards
Prader-Willi Syndrome
characterized by mental retardation and obesity: over eating
- hx of hypotonia as infant
- paternal deletions of chromosome 15 may cause this
Angelman Syndrome
Characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements ( hand flapping) , frequent laughter or smiling, and usually a happy demeanor.
- Caused by loss of normal maternal contribution to a region of chromosome 15
Fragile X syndrome
- Single gene cause of autism,
- Inherited cause of intellectual disability
- caused by a trinucleotide repeat (CCG)
Von hippau-Lindau syndrome
Autosomal dominant illness that present with multiple hemangioblastomas of the eye and brain. Neuro symptoms are minimal unless there is rupture of a CNS hemangioblastoma
Tuberous Sclerosis
Characterized by:
- Cortical Tubers:
- Subependymal nodules
- Ventriculomegaly
- Subpendymal giant cell astrocytomas ( SEGA) –> may lead to obstruction of ventricular system but otherwise benign
- Clinically associated with a combination of mental retardation, seizures and adenoma sebaceum ( angiofibromas on the face as red papules), Ash leaf spots can be found on skin, and shagreen’s patch ( raised area of hardened skin on lower back)
- Caused by mutation of two genes TSC 1 on chromosome 9 and TSC 2 on chromosome 16. 2/3 = sporatic 1/3” inherited in an autosomal dominant fashion
Neurofibromatosis II
- Caused by mutation on chromosome 22
- Pt has multiple schwannomas, meningiomas, and ependymomas.
present by age 20 usually with cranial nerve deficits from tumors.
Neurofibromatosis I
- caused by mutation of chromosome 17
- more common than NF2
- Presents before age 5 with seizures, mental retardation and painful neuropathies from peripheral neurofibromas. P/w cafe-au-lait spots, plexiform neurofibromas , axillary freckling, optic gliomas, and thinning of long bones.
Sturge-weber syndrome
Congenital disorder characterized by seizures and port-wine stain birthmark caused by an overgrowth of capillaries.
- It is usually in the distribution of the first division of the trigem nerve.
- Neuronal loss and calcification in cerebral cortex ipsilateral to the birthmark.
- Seizure start in infancy and most children have mental retardation. Glaucoma is also common
- Seizures can be so severe that they warrant hemispherectomy.
ADEM: Acute disseminated Encephalomyelitis
- Acute inflammatory disease often follows an infection.
- P/w encephalopathy ( confusion, altered mental status)
and seizures.
Rett’s Syndrome
- Occurs in girls
- Children appears to grow and develop normally, although there are subtle abnormalities ( hypotonia ( floppy), difficulty feeding, and jerkiness in limb movements)
- Cognitive and physical deficits begin usually gradually but quite suddenly: 1-4 = age of onset
- Children lose purposeful use of their hands and the ability to speak followed by compulsive hand movements such as wringing and washing.
Lesh-Nyhan Disease
- X-linked disorder
- Cause by mutation in hypoxanthine-guanine phosphoribosyl transferase enzyme
- children develop hypotonia and mental retardation plus self-mutilation
- diagnosed by elevated uric acid
Erbs Palsy
Damage to C5-C6 of the brachial plexus.
- Can be result of difficult delivery or MVA where neck is stretched from the head
- Can p/w flaccidity and medial rotation of the arm. Can be atrophy of biceps and brachioradialis muscles because the C5 and6 roots innervate extensors, the classic
Klumpke’s paralysis
Results from damage to C8-T1 level of brachial plexus. Can occur with arm-pulling during childbirth or hanging on a tree like a monkey.
- Affects the intrinsic muscles of the hand and the flexors of the wrist/fingers. Results in total-hand claw.
Kleine-Levin
- Sleeping beauty
- Sleeps, often spacey when awake or childlike, hypersexuality, and excessive eating
