Genetics/Inborn error of metabolism PierreLoredo.com

Is it AD, XLinked,AR

100

Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant. Sickle cell disease https://www.paypal.com/cgi-bin/webscr?cmd=_donations&business=BDDH66ZPL37B2&lc=US&item_name=PierreLoredo%2ecom&currency_code=USD&bn=PP%2dDonationsBF%3abtn_donateCC_LG%2egif%3aNonHosted

What is AR

200

Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant. Galactosemia

What is AR

300

Hemophilia A and B Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant.

What is X-linked recessive

400

Rett syndrome Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant.

What is X-linked Dominant

500

Is it Autosomal recessive, X-linked recessive, X-linked dominant, or Autosomal dominant. Duchenne muscular dystrophy

What is x-linked recessive

Name the syndrome

100

Autosomal Dominant Parathyroid absence Thymic hypoplasia (T cell defects) Congenital heart defects (TOF, truncus arteriosus, VSD) Cleft palate Neonatal Hypocalcemia

What is DiGeorge Syndrome

200

Autosomal dominant Jaundice Liver biopsy shows few bile ducts congenital heart problems (Tetralogy of Fallot) Unusual butterfly shape of the bones of the spinal column that can be seen in an x-ray Peripheral pulmonic Stenosis

What is Alagille Syndrome

300

macroglossia macrosomia midline abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), ear creases or ear pits, and neonatal hypoglycemia

What is Beckwith-Wiedemann syndrome

400

congenital heart defect (Pulmonic Stenosis), short stature, webbed neck learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features (triangular face, hypertelorism) Lymphedema

What is Noonan Syndrome

500

Short stature, moderate to severe intellectual disability, distinctive facial features (BEAKED NOSE), and broad thumbs with radial angulation and first toes are great and broad.

What is Rubinstein Taybi Syndrome

Tri This

100

Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three). atlantoaxial problems leading to possible C1-C2 dislocation Increase risk of leukemia Risk AV canal defect Risk duodenal atresia

What is Trisomy 21

200

Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three). Rocker bottom feet Overlapping index finger over third digit) Short Sternum

What is Trisomy 18

300

Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three). Epicanthal folds Hypotonia at birth Delayed closure of fontanelle

What is Trisomy 21

400

Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three). Holoprosencephaly Cleft lip and palate Hypoplastic ribs

What is Trisomy 13

500

When identified prenatally, does have an increase risk of abortion. Is it Trisomy 21, trisomy 18, trisomy 13, or all three (get it tri and three).

What is ALL

Glycogen storage disease

100

Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) Defect: Lysosomal Hypotonia at birth, enlarged tongue, cardiomegaly.

What is Pompe disease

200

Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) doll facies Hepatomegaly Hypoglyceia Lactic Acidosis & High triglycerides high content of uric acid in urine

What is Von Gierke disease

300

Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) Enlarge liver in 6 year old, enlarge liver present since 4 months. Sister too had enlarged liver and died several years later. Patient's growth is retarded. No history of seizures. Enzyme defect in liver is debraching enzyme

What is Cori Disease

400

Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) Enzyme defect: Glucose 6 phosphatase

What is Von gierke Disease

500

Which gycogen storage disease is it (Type 1: Von Gierke, type 2: Pompe, type 3 Cori, or type 5: McArdle) 5-month-old girl presented with shortness of breath and progressive muscle weakness 1 month before hospitalization. On physical examination, she was extremely floppy, had mild congestion of the pharyngeal wall, macroglossia, coarse breath sounds with rhonchi over both lung fields, regular heart beat with apical systolic murmur, hepatomegaly, and grade 4 muscle power of the extremities. The liver, heart, and muscle enzyme levels were elevated: SGOT, 288 U/L; SGPT, 194 U/L; creatine kinase (CK), 998 U/L (CK-MB, 72 U/L); and lactic dehydrogenase (LDH), 762 U/L (LDH1:LDH2, 1.65). The specific enzyme assay for acid maltase was not performed. Results of other laboratory studies were normal. The chest X-ray film showed cardiomegaly with infiltration of both upper lung fields. Electrocardiography showed a diffuse enlarged QRS complex, short PR interval, and left ventricular hypertrophy. Echocardiography displayed hypertrophy of the ventricular septum and walls, poor myocardial contractility, and mild mitral regurgitation

What is Pompe Disease

Lysosomal Storage Disease

100

Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) 5 ½ months old, present with chief complaint of runny nose. You notice patient with nystagmus. Exagerated startle response and rhinnorhea. After you dilated patient's eyes, you see “cherry red spots.”

What is Tay Sachs disease Also seems to have upper respiratory infection

200

Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) infant of 3 months, one of three siblings, the eldest of whom likewise died of this disease. Diagnosis was confirmed by splenic puncture.Exam findings revealed hepatosplenomegaly. Imaging showed osteolytic lesions. Blood work revealed anemia and thrombocytopenia. Chemical analysis of spleen and liver showed the glucosidocerebroside characteristic of this diseas

What is Gaucher Disease

300

Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) Cherry red spots Hyperreflexia Hypotonia

What is Niemann Pick Disease

400

Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) 16 year old was admitted for evaluation of proteinuria, non-specific cardiac symptoms, and a possible vasculopathy. He had reddish macular-papular skin lesions since the age of 13 years. Since 12 years of age, he experienced acroparesthesias,joint pains, and did not perspire in hot weather.Patient also has delayed puberty and newly diagnosed renal failure. There was no known family history of skin lesions. On Bone marrow lipid laden macrophages are present

What is Fabry disease

500

Which Lysosomal Storage Disease (Type 1: Gaucher, Niemann Pick Disease, Tay Sachs, Fabry Disease, or Metochromatic leukodystrophy) Patient presents with multiple medical records and shouting saying "no one can figure out what is wrong with my child" Patient now 3 years of age has difficulty with walking begining after the first year of life. Other symptoms include muscle wasting and weakness, muscle rigidity, developmental delays, progressive loss of vision leading to now blindness, Upon admission for failure to thrive patient has convulsions, impaired swallowing, paralysis, and dementia. Patient becomes comatose Patient eventually died before reaching age 5 years of age. The key diagnosis was decrease arylsulfatase A activity in urine and increase protein in CSF.

What is Metochromatic leukodystrophy