Lilian Fornos
Disease Description Symptoms
Glucokinase Mutations - b- cells of pancreas cannot respond to blood - Hyperglycemia
glucose levels - MODY-2
Thiamine Deficiency - ¯ Vitamin B1 à ¯ Transketolase activity - Less NADPH will be made
- Used in Pentose phosphate pathway - Pyruvate will accumulate
- Muscle cramps during intensity anaerobic - Hemolysis if associated RBCs glycolytic defect.
exercise. - Myoglobinuria
Defects in Muscle Glycolysis - PFK-1 Deficiency à Tauri disease, Glycogen - serum CK-MM levels following intensity exercise.
Storage disease Type VII - NO in blood lactate levels w/ intensity exercise (Ischemic
forearm test)
- Aerobic exercise tolerated (Oxidation of FA’s NOT affected)
- anion gap = Metabolic Acidosis à Lactate Conditions of Lactic Acidosis
levels - NADH/NAD+ ratio à Binge Alcohol Consumption
- Pyruvate Dehydrogenase deficiency à Leigh disease
pH= ¯ , HCO3 = ¯ , PCO2 = ¯ (Compensation)
-
- Thiaine deficiency (PDH complex)
Lactic acidosis - Gluconeogeneis defect à von Gierke disease (defect in Cori
Cycle)
- ¯ blood supply à circulatory shock (Hypoxia & Anaerobic
metabolism)
- Pulmonary embolism (Poor oxygenation)
Sugars in Urine Clinical - Sugars NOT found In Urine Sugars in Urine
Significance - Reducing property based on conversion of - Glucose à Diabetes Mellitus (beyond 180 threshold)
Cupric à Cuprous ions (Benedict test or - Fructose
Clinitest) - Galactose
- Dipstick test à presence of sugar in urine - Lactose intolerance à unable to digest dietary lactose à NO
Sugar in urine à severe diarrhea (avoid lactose)
Clinitest - Nonspecific test that produces a change in color if urine is positive for reducing substances such as reducing sugars
(Fructose, Galactose, Glucose, Lactose, Xylulose).
Glucose Oxidase Test - Detects only glucose
, Lilian Fornos
Clinical Description Symptoms Pictures
- Narrowing (Stenosis) of the - Distended Stomach Imaging:
Lumen of Pyloric canal - Projectile Vomiting with - Barium swallow: Shows
Congenital Hypertrophic caused by Hypertrophy of NO Bile (bile duct opens in 2nd an abnormal defect in
Pyloric Stenosis the muscles in the Pyloric part of duodenum) filling in the region of the
region. - After vomitus infant is hungry Pyloric Sphincter.
Vomiting occurs before it - Generally, starts 3 wks. after & wants to feed again. - Ultrasound: Thickening
reaches duodenum, which is birth or as late as 5 months - Physical Examination of the Pyloric Sphincter
where bile duct opens, this after birth. - Pyloric Mass (olive shaped)
is why there is NO Bile. - Incidence: - Visible Gastric Peristaltic
- 1/150 male infants wave
- 1/750 female infants
- Partial occlusion of Lumen - Vomiting with Bile
due to incomplete (If stenosis is distal to the bile duct
Duodenal Stenosis recanalization. opening)
- Complete occlusion of the - Polyhydramnios
Lumen of the Proximal - Vomiting begins immediately
Duodenum à Failure to after birth
Duodenal Atresia Recanalize à baby can’t - Vomiting with NO Bile
swallow à polyhydramnios - Double Bubble à air in
Stomach & Proximal
Duodenum à baby can’t pass
gas
- Bifid Ventral Pancreatic bud - Vomiting with NO Bile
à Right migrates along - Double Bubble b/c of Intestinal
normal route, but the Left Obstruction
Annular Pancreas migrates in the opposite
direction à a ring of
Pancreatic tissue encircles
the 2nd part of Duodenum &
causes Obstruction
, Lilian Fornos
- Nonrotation à Caudal limb - Generally Asymptomatic
returns 1st - Small intestine à Right side
- Only have 90° rotation (supposed to be on left)
Abnormalities of Midgut (normal is 270°) - Large intestine à Left side
Rotation (supposed to be on right)
- Reversed rotation à Midgut - Superior Mesenteric a.
loop rotates in a clockwise compressing Transverse
direction. colon.
- Duodenum lies anterior to
transverse colon posterior.
- Cecum gets adhered to the - May cause difficulty in
Liver à doesn’t descend to diagnosis of Appendicitis
Subhepatic Cecum & the Iliac fossa
Appendix - Have 180° rotation (missing
last 90°)
- Cecum lies Inferior to the - Duodenal Obstruction à due
Pyloris & is fixed to the to failure of midgut loop to
Mixed Rotation & Posterior abdominal wall by complete the final 90° rotation.
Volvulus Peritoneal bands. - Blood supply compromised à
Ischemia
Embryological defect (during - Size of hernia depends upon its
Midgut development) contents
Omphalocele - Persistence of abdominal - Covered by Fetal Membranes
herniation (Peritoneum)
, Lilian Fornos
Embryological defect Clinical Presentation
- Incomplete closure of - Soft swelling covered by Skin
Umbilical ring - Protrudes during crying,
coughing, straining
Umbilical Hernia - Can be easily reduced
through the fibrous ring at the
umbilicus
- Hernia can contain Omentum
& small portions of the Small
Intestine
- Incomplete closure of - Viscera protrudes into the
Lateral folds during 4th wk. Amniotic cavity
of development à defect - Hypothermia (since intestines
near the Median plane of the are outside)
Gastroschisis abdominal wall.
- Defect w/ WALL not the
process à Not covered by
peritoneum or skin
- Retention of Can mimic the signs of:
Omphaloenteric duct à - Appendicitis
fingerlike projection from the - Peptic Ulcer
ileum (Outpouching)
Meckel’s Diverticulum Rule of 2’s: Can produce:
(True Diverticulum) - 2 feet from ileocecal junction - Periumbilical pain
- 2% of pop. - Internal bleeding (caused by
- 2x more common in males gastric acid)
- 2 inches long
- 2 secretory tissues (Gastric &
Pancreatic)
- Fibrous cord connecting intestines (ileum) to anterior abdominal
wall à within the cord Cyst Formation (closed)
Vitelline Cysts
Disease Description Symptoms
Glucokinase Mutations - b- cells of pancreas cannot respond to blood - Hyperglycemia
glucose levels - MODY-2
Thiamine Deficiency - ¯ Vitamin B1 à ¯ Transketolase activity - Less NADPH will be made
- Used in Pentose phosphate pathway - Pyruvate will accumulate
- Muscle cramps during intensity anaerobic - Hemolysis if associated RBCs glycolytic defect.
exercise. - Myoglobinuria
Defects in Muscle Glycolysis - PFK-1 Deficiency à Tauri disease, Glycogen - serum CK-MM levels following intensity exercise.
Storage disease Type VII - NO in blood lactate levels w/ intensity exercise (Ischemic
forearm test)
- Aerobic exercise tolerated (Oxidation of FA’s NOT affected)
- anion gap = Metabolic Acidosis à Lactate Conditions of Lactic Acidosis
levels - NADH/NAD+ ratio à Binge Alcohol Consumption
- Pyruvate Dehydrogenase deficiency à Leigh disease
pH= ¯ , HCO3 = ¯ , PCO2 = ¯ (Compensation)
-
- Thiaine deficiency (PDH complex)
Lactic acidosis - Gluconeogeneis defect à von Gierke disease (defect in Cori
Cycle)
- ¯ blood supply à circulatory shock (Hypoxia & Anaerobic
metabolism)
- Pulmonary embolism (Poor oxygenation)
Sugars in Urine Clinical - Sugars NOT found In Urine Sugars in Urine
Significance - Reducing property based on conversion of - Glucose à Diabetes Mellitus (beyond 180 threshold)
Cupric à Cuprous ions (Benedict test or - Fructose
Clinitest) - Galactose
- Dipstick test à presence of sugar in urine - Lactose intolerance à unable to digest dietary lactose à NO
Sugar in urine à severe diarrhea (avoid lactose)
Clinitest - Nonspecific test that produces a change in color if urine is positive for reducing substances such as reducing sugars
(Fructose, Galactose, Glucose, Lactose, Xylulose).
Glucose Oxidase Test - Detects only glucose
, Lilian Fornos
Clinical Description Symptoms Pictures
- Narrowing (Stenosis) of the - Distended Stomach Imaging:
Lumen of Pyloric canal - Projectile Vomiting with - Barium swallow: Shows
Congenital Hypertrophic caused by Hypertrophy of NO Bile (bile duct opens in 2nd an abnormal defect in
Pyloric Stenosis the muscles in the Pyloric part of duodenum) filling in the region of the
region. - After vomitus infant is hungry Pyloric Sphincter.
Vomiting occurs before it - Generally, starts 3 wks. after & wants to feed again. - Ultrasound: Thickening
reaches duodenum, which is birth or as late as 5 months - Physical Examination of the Pyloric Sphincter
where bile duct opens, this after birth. - Pyloric Mass (olive shaped)
is why there is NO Bile. - Incidence: - Visible Gastric Peristaltic
- 1/150 male infants wave
- 1/750 female infants
- Partial occlusion of Lumen - Vomiting with Bile
due to incomplete (If stenosis is distal to the bile duct
Duodenal Stenosis recanalization. opening)
- Complete occlusion of the - Polyhydramnios
Lumen of the Proximal - Vomiting begins immediately
Duodenum à Failure to after birth
Duodenal Atresia Recanalize à baby can’t - Vomiting with NO Bile
swallow à polyhydramnios - Double Bubble à air in
Stomach & Proximal
Duodenum à baby can’t pass
gas
- Bifid Ventral Pancreatic bud - Vomiting with NO Bile
à Right migrates along - Double Bubble b/c of Intestinal
normal route, but the Left Obstruction
Annular Pancreas migrates in the opposite
direction à a ring of
Pancreatic tissue encircles
the 2nd part of Duodenum &
causes Obstruction
, Lilian Fornos
- Nonrotation à Caudal limb - Generally Asymptomatic
returns 1st - Small intestine à Right side
- Only have 90° rotation (supposed to be on left)
Abnormalities of Midgut (normal is 270°) - Large intestine à Left side
Rotation (supposed to be on right)
- Reversed rotation à Midgut - Superior Mesenteric a.
loop rotates in a clockwise compressing Transverse
direction. colon.
- Duodenum lies anterior to
transverse colon posterior.
- Cecum gets adhered to the - May cause difficulty in
Liver à doesn’t descend to diagnosis of Appendicitis
Subhepatic Cecum & the Iliac fossa
Appendix - Have 180° rotation (missing
last 90°)
- Cecum lies Inferior to the - Duodenal Obstruction à due
Pyloris & is fixed to the to failure of midgut loop to
Mixed Rotation & Posterior abdominal wall by complete the final 90° rotation.
Volvulus Peritoneal bands. - Blood supply compromised à
Ischemia
Embryological defect (during - Size of hernia depends upon its
Midgut development) contents
Omphalocele - Persistence of abdominal - Covered by Fetal Membranes
herniation (Peritoneum)
, Lilian Fornos
Embryological defect Clinical Presentation
- Incomplete closure of - Soft swelling covered by Skin
Umbilical ring - Protrudes during crying,
coughing, straining
Umbilical Hernia - Can be easily reduced
through the fibrous ring at the
umbilicus
- Hernia can contain Omentum
& small portions of the Small
Intestine
- Incomplete closure of - Viscera protrudes into the
Lateral folds during 4th wk. Amniotic cavity
of development à defect - Hypothermia (since intestines
near the Median plane of the are outside)
Gastroschisis abdominal wall.
- Defect w/ WALL not the
process à Not covered by
peritoneum or skin
- Retention of Can mimic the signs of:
Omphaloenteric duct à - Appendicitis
fingerlike projection from the - Peptic Ulcer
ileum (Outpouching)
Meckel’s Diverticulum Rule of 2’s: Can produce:
(True Diverticulum) - 2 feet from ileocecal junction - Periumbilical pain
- 2% of pop. - Internal bleeding (caused by
- 2x more common in males gastric acid)
- 2 inches long
- 2 secretory tissues (Gastric &
Pancreatic)
- Fibrous cord connecting intestines (ileum) to anterior abdominal
wall à within the cord Cyst Formation (closed)
Vitelline Cysts
