Notes in Pediatric

To Subscribe, use this Key

Status	Last Update	Fields
Published	04/01/2024	{{c1::Angelman Syndrome}} is a genetic imprinting disorder caused by maternal gene deletion that presents with hand flapping & inappropr…
Published	04/01/2024	{{c1::Angelman Syndrome}} is a genetic imprinting disorder caused by maternal gene deletion that presents with seizures, ataxia and sev…
Published	04/01/2024	{{c1::Rett Disorder}} is an X-linked pervasive developmental disorder seen almost exclusive in girls that involves regression characterized by loss of…
Published	04/01/2024	Cerebral palsy is a {{c1::static::progressive or static}} disorder caused by {{c2::prenatal or perinatal insult to the brain, most commonly strok…
Published	04/01/2024	Most common manifestation of cerebral palsy is {{c1::spasticity in one or more limbs}}.
Published	04/01/2024	Mental retardation is defined by IQ < {{c1::70}}.
Published	04/01/2024	{{c1::Down's Syndrome::genetic condition}} can be complicated by an atlantoaxial instability that may lead to odontoid compression of the spinal cord.…
Published	04/01/2024	What is the mode of transmission of Duchenne and Becker muscular dystrophy? {{c1::X-linked recessive}}
Published	04/01/2024	A child has a suprasellar tumor that appears calcified on CT. What is the diagnosis? {{c1::Craniopharyngioma}}
Published	04/01/2024	Joubert SyndromeCorrect diagnosis is arrived upon by identification of the two mandatory findings, {{c2::vermian hypoplasia and the molar tooth sign}}…
Published	04/01/2024	Child with optic pathway glioma think what ? {{c1::NF1}}
Published	04/01/2024	Describe the types of seizures seen in benign rolandic epilepsy:a. {{c1::unilateral facial sensorimotor symptoms}} (30% of patients)b. {{c1::oropharyn…
Published	04/01/2024	Childhood-onset adrenoleukodystrophy and adult-onset adrenomyeloneuropathy are {{c1::X-linked::inheritance}} disorders in which {{c2::ABCD1}} gene mut…
Published	04/01/2024	DiGeorge syndrome{{c1::CATCH-22::mneumonic}}: {{c2::Cardiac defects}}{{c3::Abnormal facies}}{{c4::Thymic hypoplasia}}{{c5::Cleft palate}}{{c6::Hypocal…
Published	04/01/2024	congenital myotonic dystrophy (myotonia congenita): defect in {{c1::calcium channel}} (CLC1), minimal weakness, {{c2::club}} feet, {{c3::fish}} mouth
Published	04/01/2024	{{c1::Hydranencephaly}} is a severe neurological condition where the cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fl…
Published	04/01/2024	Orbital pain and 3rd nerve palsy in toddler? {{c1::occulocephalic migraine::condition}}
Published	04/01/2024	Non-verbal learning disability:early speech and vocab development, attention to detail, good rote memory, reading and spellingdo poorly in {{c1::math:…
Published	04/01/2024	Chance of developing epilepsy after single febrile seizure? {{c1::2% if not prolonged, focal, multiple or family history}}
Published	04/01/2024	Arylsulfatase A deficiency:Genetic cause of {{c1::metachromatic leukodystrophy::condition}}{{c2:: AR::inheritance pattern}}{{c3::Lysosomal}} stor…
Published	04/01/2024	Diagnosis of late-onset metachromatic leukodystrophy:{{c1::Dementia}}Peripheral neuropathySeizures (sometimes)PLUS slowing on NCS
Published	04/01/2024	Clinical features of {{c1::Rett syndrome}}: Loss of purposeful hand skills, loss of language, stereotypic hand movements in female child
Published	04/01/2024	Clinical features of Susac syndrome (3): {{c1::Branch retinal artery occlusionsSensorineural hearing lossSubacute encephalopathy}}
Published	04/01/2024	Clinical features of childhood adrenoleukodystrophy: Attention deficitProgressive declineNeurologic findingsSeizures {{c1::Adrenal insufficiency in a …
Published	04/01/2024	Condition with massive NAA peak = {{c1::Canavans}}
Published	04/01/2024	What condition is this MRI consistent with? {{c1::Adrenoleukodystrophy}}
Published	04/01/2024	Peds patient w/ hypertonia, intellectual disability, myoclonus, opisthotonus. MRI reveals thalamic mineralization. What is the most likely diagnosis?&…
Published	04/01/2024	Genes linked to Childhood Absence epilepsy? {{c1::GABRA1 & GABRG2}} (GABAa receptor),  {{c2::CLCN2}} ({{c3::chloride}} channel)
Published	04/01/2024	Child w/ neuroblastoma presents with chaotic, conjugate saccades. What kind of eye movements are being described? {{c1::Opsoclonus }}
Published	04/01/2024	3 year old child presnts with bulging fontanelle w/ audible buit, hydrocephalus and high output cardiac failure. What is a potential brain venous abno…
Published	04/01/2024	What is the most important predisposing factor for the development of intracerebral abscesses in children in the United States? {{c1::Cyanotic congeni…
Published	04/01/2024	A 17-year-old boy and his 14-year-old sister present with progressive ataxia and dystonia. The boy also has splenomegaly. Both children have marked di…
Published	04/01/2024	Clinical charachteristics of Rett Syndrome (6)?First Sign: {{c1::Hypotonia}} Characterized by reduced muscle tone.Behavioral Changes: {{c2::Autistic-l…
Published	04/01/2024	Which cortex located in the piriform cortex in medial temporal lobe? {{c1::olfactory cortex! adjacent to amygdala}}
Published	04/01/2024	{{c1::Status marmoratus::Condition}} refers to a condition characterized by marbled or mottled appearance of the basal ganglia due to gliosis, which i…
Published	04/01/2024	You are consulted on a child in the NICU. She was born full-term to a G1P1 mother, complicated by poor fetal movement. Upon delivery, she was diffusel…
Published	04/01/2024	Which of the following medications is recommended for treatment of localized spasticity? {{c1::Botulinum toxin}}
Published	04/01/2024	What most commonly leads to status marmoratus? {{c1::Perinatal poor central perfusion}}
Published	04/01/2024	A child presents with high tone deafness, inability to look upward without thrusting his head upward, incisor teeth enamel hypoplasia and severe athet…
Published	04/01/2024	What are some common comorbidities of cerebral palsy? {{c1::Common comorbidities of cerebral palsy include pain, intellectual disability, speech-langu…
Published	04/01/2024	What are the subtypes of cerebral palsy? {{c1::The subtypes of cerebral palsy are spastic diplegia, spastic hemiplegia, spastic quadriplegia, and dysk…
Published	04/01/2024	How is botulinum toxin A used in the treatment of cerebral palsy? {{c1::Botulinum toxin A is used to treat focal spasticity in cerebral palsy. It prev…
Published	04/01/2024	What is cerebral palsy? {{c1::Cerebral palsy is a group of clinical syndromes characterized by abnormal muscle tone, posture, and movement. It is caus…
Published	04/01/2024	{{c1::Kernicterus}} is a condition caused by toxic levels of unconjugated bilirubin in newborns. It can lead to jaundice, choreoathetoid cerebral pals…
Published	04/01/2024	What is the most common cause of congenital hemiparesis? {{c1::prenatal or postnatal middle cerebral artery infarction}}
Published	04/01/2024	What is the recommended treatment for a patient with progressive abnormal foot posture that improves after a good nights sleep and is worse at the end…
Published	04/01/2024	What is the most likely diagnosis for a 13-month-old child who presents with early right hand preference, increased tone in the left arm with the hand…
Published	04/01/2024	What percentage of children with CHP have learning disabilities? {{c1::About 25% of children with CHP have learning disabilities. Scoliosis occurs in …
Published	04/01/2024	What are the EMG/NCS findings that support a decreased number of large motor units firing rapidly, with no sensory change? {{c1::The EMG/NCS findings …
Published	04/01/2024	What diagnostic study is recommended as part of the initial workup for a 13-month-old child suspected of having cerebral palsy? {{c1::Brain MRI}}
Published	04/01/2024	McArdle’s disease and Tarui’s disease do not produce {{c1::lactate}} inthe exercise ischemic test.
Published	04/01/2024	{{c1::Anencephaly}}: Failure of anterior neural tube closure
Published	04/01/2024	Periventricular leukomalacia (PVL): white-matter injury with cystic changes usually associated with {{c1::high-grade IVH}} or {{c2::decreased cerebral…
Published	04/01/2024	The most common sequela after congenital cytomegalovirus infection is {{c1::deafness}}.
Published	04/01/2024	{{c1::Becker’s}} muscular dystrophy: Milder than Duchenne, not wheelchair bound at 16 years old
Published	04/01/2024	Canavan disease: Macrocephaly, {{c1::aspartoacylase}} deficiency, increased {{c2::NAA}} on MRS
Published	04/01/2024	{{c1::Rosenthal}} fibers are prominent in Alexander disease. They are also found in tumors such as pilocytic astrocytomas. They occur normally in the …
Published	04/01/2024	The two most common initial symptoms reported in infants with GLUT1 deficiency syndrome are {{c1::seizures}} and characteristic episodes of {{c2::repe…
Published	04/01/2024	GLUT1 deficiency syndrome is a neurodevelopmental disorder caused by insufficient transport of glucose from the blood to the brain due to heterozygous…
Published	04/01/2024	GLUT1 deficiency syndrome: The CSF glucose concentration is approximately {{c1::half the value expected for the given serum glucose}} concentration (r…
Published	04/01/2024	Treatment of GLUT1 deficiency syndrome:  {{c1::ketogenic diet}}
Published	04/01/2024	The GLUT1 deficiency syndrome is the first genetically determined abnormality of the blood-brain barrier and may be familial, transmitted as an {{c1::…
Published	04/01/2024	Urine with musty odor: {{c1::Phenylketonuria}}
Published	04/01/2024	Cystathionine-ß-synthase deficiency: {{c1::Homocystinuria::diagnosis}}
Published	04/01/2024	Accumulation of branched-chain amino acids (leucine, Isoleucine, and valine): {{c1::Maple syrup urine disease::diagnosis}}
Published	04/01/2024	Hexosaminidase A deficiency: {{c1::Tay-Sachs disease::diagnosis}}
Published	04/01/2024	Symmetric white matter involvement predominantly in the posterior regions, sparing the U fibers: {{c1::Adrenoleukodystrophy}}
Published	04/01/2024	Megalencephaly, symmetric white matter disease involving the U fibers. Aspartoacylase deficiency.  N-acetylaspartic acid (NAA) peak on MR sp…
Published	04/01/2024	Angiokeratomas, renal failure, hypertension, strokes, autonomic dysfunction: {{c1::Fabry's disease: a-Galactosidase deficiency::Diagnosis}}
Published	04/01/2024	Gyral calcifications in tram-track appearance on MRI: {{c1::Sturge-weber syndrome::Diagnosis}}
Published	04/01/2024	Lisch's nodules Iris hamartomas: {{c1::Neurofibromatosis type 1 (NF 1)::Diagnosis}}
Published	04/01/2024	{{c1::Holoprosencephaly::Diagnosis}}: Failure of prosencephalon to divide into cerebral hemisphere and other structures. Problem during 4 to 8 wk of g…
Published	04/01/2024	Balloon cells: {{c1::Focal cortical dysplasia, a cortical developmentaldisorder of cell proliferation::Diagnosis}}
Published	04/01/2024	Posterior neuropore fusion defects: {{c1::Spina bifida, myelomeningocele::2 associated conditions}}
Published	04/01/2024	Reduced visual acuity, panhypopituitarism, absent septum pellucidum: {{c1::Septo-optic dysplasia::Diagnosis}}
Published	04/01/2024	Progressive external ophthalmoplegia, onset younger than 20 years, short stature, ataxia, heart block, retinitis pigmentosa, CSF protein >100 mg/dL…
Published	04/01/2024	Newborn babies with ketoacidosis, anion gap, elevated propionic acid level in the blood:{{c1:: Propionic acidemia::Most likely diagnosis}}
Published	04/01/2024	Alopecia, skin rash, hypotonia, seizures, optic atrophy, hearing loss, and hyperammonemia: {{c1::Biotinidase deficiency::Diagnosis}}
Published	04/01/2024	{{c1::Moro}} reflex is a primitive reflex seen in the newborn until the age of 4 months, and its presence later could indicate developmental delay.…
Published	04/01/2024	{{c1::Sandifer syndrome (dyspeptic dystonia)::Diagnosis}} refers to the pseudodystonic head and neck movements, occasionally with opisthotonos, tha…
Published	04/01/2024	Neurulation occurs at {{c1::3 to 6::#}} weeks’ gestation, and failure of crucial processes at any stage leads to a variety of abnormalities, collec…
Published	04/01/2024	Abnormalities during specification, which occurs at 5 to 6 weeks of gestation, lead to disorders such as {{c1::septo-optic dysplasia::diiagnosis}} …
Published	04/01/2024	14yo obese boy who sleeps all day, and only eats, very irritable:{{c1:: Kleine-Levine Syndrome::diagnosis}}
Published	04/01/2024	{{c1::Lissencephaly (smooth brain)::Condition}}: Characterized by the absence or incomplete formation of brain gyri, leading to a {{c2::smooth}} appea…
Published	04/01/2024	{{c1::Pelizaeus-Merzbacher disease::Condition}} is associated with early-onset nystagmus and diffuse hypomyelination.
Status	Last Update	Fields