Pathology EMQ template.

Name: Sophie Lane

Theme: Metabolic defects and screening

 

OPTION LIST

 

A	Fatty acid oxidation defect	I	Mitochondrial Disorder
B	Congenital Hypothyroidism	J	Galactosaemia
C	Organic Aciduria	K	Peroxisomal disorder
D	Urea Cycle Defect	L	Lysosomal Storage Disease
E	Drug Toxicity	M	Glycogen Storage Disease Type 1
F	Phenylketonuria	N
G	Cystic Fibrosis	O
H	Congenital disorder of glycosylation Type 1a	P

 

 

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

 

1.   A patient presents to Accident and Emergency with vomiting and progressive confusion.  He does not have diarrhoea.  Investigations show:  pH 7.6, Bicarbonate 14, anion gap raised, raised glutamine, and ammonia 210 micromol/l.  What is the most likely diagnosis?

 

 

2.   You are called to see a neonate who appears unwell and lethargic, and has problems feeding.  Investigations show: hypoglycaemia, hypocalcaemia, metabolic acidosis, high anion gap, and raised ammonia.  He has truncal hypotonia with limb hypertonia.  What is the most likely diagnosis?

 

 

3.   A child presents with recurrent episodes of ketoacidosis, confusion, seizures and vomiting.  During these episodes the patient has raised ammonia and is hypoglycaemic, but does not have ketones in the urine.  A blood spot carnitine is performed when the child has recovered and is abnormal.  What is the diagnosis?

 

 

 

4.   An infant has hepatomegaly, osteopaenia and cardiomyopathy.  On examination there is abnormal subcutaneous fat distribution.  What is the most likely diagnosis?

 

 

5.   A neonate presents with seizures, hepatic dysfunction, dysmorphia and severe muscular hypotonia.  There is a raised bilirubin.  What is the most likely diagnosis?

 

 

 

 

ANSWERS

1. D

2. C

3. C

4. H

5. K