This is an Excellent video by Dr. Jim Sears on how to identify Croup , even I'm as a pediatrician was really impressed by the amount of high yield information he mentions, just a quick highlights to what he is mentioning ... 1- Croup is a narrowing of the upper airways caused by Para influenza virus infection , it would simply start by manifestations similar to common cold ( low grade fever , runny nose) then narrowing of the airways occur, so imagine when air passes through a narrowed pipe it would look like a barking sound , and would result in a mild Inspiratory stridor. 2- Once you hear this sound the best initial step to do is to expose the child to humidified/moist air to help relax the air ways 3- Nebulized epinephrine or steroids are preserved only for severe cases 4- Never use Antihistaminics in croup because they would dry your airways which in fact would worsen the sound 5- Condition usually worsens at night
6- Best preventive method washing your hands and general hygiene before dealing or handling the child
7- I guess the only interesting piece of information to add, is that croup occurs in children between 3 months and 5 years of age , it doesn't involve older age groups because the size of the airway tracts (glottis and sub-glottis) enlarge with growth, making its narrowing upon inflammation very unlikely.
for me developmental milestones are very difficult to remember and easy to make mistakes on, I usually used to study by remembering the age and expected development of social and motor skills associated , but this method wasn't by any means good enough So in a trial to memorize them I would try another pattern Q&A ,and to reverse pattern of memorization , if you have a mnemonic or a certain way to help in memorizing this topic please provide your feedback ! : ) So here we go ! WHEN Do you Expect the child to ? know his name ? 9 Months
draw lines or scribble? 15 Months
jumps with 2 feet ? 2 years
tells stories ? 4 years
play with the ball ? 1year
feeds himself ? 15 months
hold a pincer ? 9 months walks down the stairs ? 18 months
rides a tricycle ? 3 years
runs ? 2 years
Crawls ? 9 months
say 1 word ? 1 year say 2 sentences ? 2 years
say 10 words ? 18 months builds 3 cubes ? 15 months
4 cubes ? 18 months
7 cubes ? 2 years
hops on 1 foot ? 4 years
descend the stairs with alternating legs ? 3 years
stand in line ? 3 years
play in a group ? 4 years
know age and sex ? 3 years
threads shoelace ? 2 years for me this is one of the challenges to remember a pediatrician : )
I don't know the named of the disease whether it was related to the first scientists who described this syndrome or how it's related to the syndrome in one way or another ! however, I believe the alternative name would typically describe it; "Exomphalos-macroglossia-gigantism triad" , it's a typically described as "Overgrowth syndrome" enlargement of organs and body parts , may be symmetrical or even Asymmetrical ! expect also hypoglycemia and polycythemia secondary to hyperinsulinemia
note the Macroglossia and plethora !
it's caused by different genes mutations all have the same location at 11p15 (short arm of chromosome 11), one of them IGF-2 gene encoding somatomedins and also monitoring for the development of abdominal tumors , particularly hepatoblastomas and Wilm's tumour through serial ultrasounds and AFP levels up to the age of 6 years is important.
Do you Know what is the most common cause of Mental Retardation in boys ? Fragile -X- Syndrome .. don't get confused with the concept Fragile ! in fact it results from the gross appearance of the X chromosome and is believed to be as a result of methylation / Silencing of the FMR1 gene (fragile mental Retardation gene) that would result in X-chromosome constriction at a certain point , so it would seem to be fragile at this point ! AMAZING ! what happens is that there's a trinucleotide repeat sequence of CGG codon that will expand with more than 200 repeats ! and eventually would result in silencing the gene that encodes familial mental retardation gene protein.
methylation /silencing/constrictionsiteof X- chromosome so that it would appear as if it's fragile !
characteristic appearance of this boy would be enlarged forehead "Macrosomia", elongated face, protruded jaw "prognathism", enlarged ears and testicles "Macrotia" and "Macrorchidism"
Mental retardation with liability to develop glioblastoms , ADHD is due to associated neurodegeneration of this disease.
this an Excellent link for better demonstration of this condition http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?offset=15&cat3=131
whenever I studied chromosomal aberrations and associated syndromes , I always got confused between Patau and Eduard's syndromes and that wasn't solved even during my Residency, since those heartbreaking syndromes- luckily- are extremely rare, because I felt that they are a combination of developmental anomalies that carries no link in between , so I couldn't link up all the symptoms together and usually mistaken to replace a symptom for another in describing one of them , luckily Down syndrome is much simpler and more famous as it's more presentable and the common associations would be found in many areas in medicine , but those syndromes and Patau (trisomy 13) in particular, are rare to find difficult to remeber, Holoprosencephaly allowed me to understand Patau and never be confused with other syndromes. Holoprosencephaly is a characteristic feature in Patau syndrome, though it may be associated with other genetic and non-genetic conditions, it carries broad spectrum of variation , in fact a Patau face is very unique when you see , Holoprosencephaly means that the prosencephalon failed to divide into the charateristic 2 cerebral hemispheres , so it ends up with one , it has a broad spectrum of presentations and variations , but this made sense to know and connect it with the associated forearm and eye (Micropthalmia) abnormalities and Mental Retardation, also there would be cleft lip and palate.
this
is an EXCELLENT video to demonstrate this form of seizures and this Youtube
channel is very beneficial particularly for the ER situations,
Neonates and Infants don't present with the typical Tonic-Clonic or Myoclonic patterns when they develop a seizure, they are atypical in their presentation. A Seizing Neonate may show Jitters or Repetitive pattern of movements in the form of staring ,blinking , fixed deviation of the eye to one side without being corrected by a spontaneous motor movement, tongue protrusion, chewing movement, apnea (may be noticed through a drop of O2 saturation detected using pulse Oximeter)
Management of neonatal seizures: A- Stoppage of seizures:
Phenobarbital is the first line, if fails Phenytoin can be administered and always keep in mind that the beat way to control seizures is to detect the cause and correct it,
B- Work-up is simple but you have to know that EEG in neonates may be normal, infantile seizures will show hypsarryhthmia , full labs CBC with differential , blood chemistry, electrolytes, glucose , blood culture, coagulation profile, amino acids profile and TMS, cranial ultrasound and lumbar puncture for CSF analysis and culture.
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