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Niemann Pick Disease and Tay Sachs disease PPT and difference

Both: onset 2-6 months. Hypotonia, loss of motor milestone, feeding difficultes, "cherry red" macula. Nieman Pick: AREFLEXIA AND HEPATOSPLENOMEGALY. Tay Sachs: Hyperrefelxia


Pathology of Nieman Pick disease

Sphingomyelinase deficiency. Types A, B and C. A is the most severe.


Pathology of Tay Sachs disease

Beta-hexosaminadase A deficiency.


Epidemiology of Niemann Pick and Tay Saches

Ashkenazai Jewish and autosomal recessive.


What is leukorrhea

Physiologic White vaginal discharge


What effects does insulin have?

Increased glycogen synthesis, increased cellular uptake of potassium, phosphorus, magnesium and thiamine, increased protein synthesis.


What is the pathophysiology of refeeding syndrome?

carb intake initiates increased insulin secretion, which leads to an anabolic state of increased glycogen synthesis, protein synthesis, intracellular uptake of potassium, magnesium, phosphorus and thiamine. Leads to decreased serum phosphorus, magnesium, thiamine, potassium. Increased sodium and water retention.


Clinical manifestations of refeeding syndrome?

Arrythmia, heart failure (pulmonary edema, peripheral edema), seizures, Wernicke encephalopathy


Precocious puberty is determined by advancing sexual characterisitcs by age?


What is the most common cause of short stature and pubertal delay in adolescents?

Constitutional growth delay


Constitutional growth delay is characterized by

Delayed bone age, delayed growth spurt and delayed puberty


Infants born to women with Graves disease are at risk for

Neonatal thyrotoxicosis


What is the patholophyioslogy of neonatal thyrotoxicosis

Maternal anti TSH R antibodies cross the placenta and stimulate the receptors


Babies with neonatal thyrotoxicosis present with?

Irritability, tachycardia, poor weight gain


Tx for neonatal thyrotoxicosis?

it will self resolve but can give methimazole and a beta blocker


Congenital hypothyroidism presentation

Mostly asymptomatic but can show decreased activity, hoarse cry, jaundice,.


What is the most common cause of congenital hypothyroidism

Thyroid dysgenesis


Adrenarche is characterized by?

Caused by early activation of adrenal androgens. Pubarche, axillary hair, acne and body odor


Which groups of children are at increased risk for precocious puberty?

Obese and black or Hispanic ethnicities


What is the pathophysiology of precocious sexual development in obese kids?

Increased insulin secretion. Results in 1) adrenal androgen production which activates peripheral adrenarche 2) ovarian estrogen production which activates thelarche. Increased leptin secretion resulting in activationg of hypothalamus-pituitary-gonadal axis => increased LH and FSH => increased estrogen production from ovaries.


What is the treatment for gonadotropin dependent precocious puberty?

GNRH agonist to promote growth velocity, prevents premature closure of the epiphyseal plates and maximize adult height potential.


What treatment should newborns of mothers with active Hepatitis B get?

Hepatitis immune globin followed by hepatitis B vaccine. If they become infected, they have a 90% chance of progressing to chronic hepatitis B


What is Reye Syndrome

Acute hepatic encephalopathy and noninflammatory fatty infiltration of the liver and kidney. Aspirin is a mitochondrial toxin. a/w aspirin ingestion after a viral illness