NEW
Font size
WorksheetsKarbala Rare Diseases Event
Total questions: 11
Worksheet time: 8mins
Which of the following is the rarest disease in the world?
Water allergy
Foreign accent syndrome
Laughing Death
Porphyria
Pica
Which of the following is the primary symptom to trigger first physician visit in patient with attenuated MPS I ?
Stiff joints
Hernia
Ear infections
Joint pain
Large head
Which of the following is the primary symptom to trigger first physician visit in patient with Severe MPS I ?
Curvature of the spine
Breathing difficulty
Respiratory infections
Stiff joint
Change facial feature
A nine-years-old boy, he is doing well in the school, had a history of frequent upper respiratory infections. General examinations shows scoliosis, kyphosis, knock knees, heart and vision problems. skeletal survey shows dysostosis multiplex. Leukocyte enzymatic assay shows a deficiency of
(N-acetylgalactosamine-6-sulfate sulfatase), (GALNS).
Which of the following is the MOST likely type of MPS in this patient?
MPS I
Hurler syndrome
MPS II
Hunter syndrome
MPS III
Sanfilippo syndrome
MPS IV
Morquio syndrome
MPS VI
Maroteaux-Lamy syndrome
Which of the following is the reversible change after enzymatic replacement therapy in patients with MPS?
Corneal clouding
Valvulare heart disease
Organomegaly
Dysostosis multiplex
Coarsened facial features
Possible symptom of gaucher disease are :
fatigue
distended abdomen
increase bruising and bleeding
bone fracture
all of the above
Which ethnic group especially vulnerable to Gaucher disease?
people of African descent
people of Asian descent
people of eastern or central European Jewish descent (Ashkenazi Jewish)
people of northern European descent
If a person with Gaucher disease has a child, the chance of having affected child will be:
25%
the child will almost certainly have the disease
50%
there's no chance that the child will have the disease
All the following are true regarding Gaucher disease type 1 EXCEPT:
A person with gaucher disease 1 may not notice any symptom untiladulthood
its the most common variety
it can cause brain damage appears in childhood or adolescent
unusual manifestation of gaucher disease are recognised such as increaserisk of malignancy
Regarding patients with Gaucher disease Type2, all are true EXCEPT:
characterized by rapid neurodegenerative course
death usually occurs within the first 2 years of life
can present with hydrops fetalis
treatment with ERT (Enzyme replacement therapy) can slow down disease progression
Regarding Gaucher disease type 3 , all are true EXCEPT
can begin at any time from child to adult hood
it has sever neurological symptom
patient can live into their early teen years and adult hood
ERT can improve symptoms
