Posts: 3,675,937
Threads: 734,344
Joined:
Sep 2021
Reputation:
5
A 6-month-old boy of Ashkenazi Jewish de-
scent presents to his pediatrician™s ofï¬ ce. His
mother is concerned that œhe isn™t developing
right. At 2 months he was following objects as
they moved across the midline and lifting his
head. However, for the past month he has been
less alert, startles more easily, and has not been
lifting his head. Physical examination is unre-
markable, but ophthalmologic examination
shows a bright red macula surrounded by a
whitish ring. What is this patient™s clinical
prognosis?
(A) Death by age 4“5 years
(B) Future organomegaly and easy bruising
© Hyperactivity if left untreated
(D) Opisthotonos
(E) Spasticity and rigidity in type A of this con-
dition
Posts: 3,675,937
Threads: 734,344
Joined:
Sep 2021
Reputation:
5
rete's syndrome ??if yes it's AA
Posts: 3,675,937
Threads: 734,344
Joined:
Sep 2021
Reputation:
5
if rett's syndrome whats the reason of red macula with whitish ring,and dont think that in rett death occurs by 4-5 yrs
Posts: 3,675,937
Threads: 734,344
Joined:
Sep 2021
Reputation:
5
@tatti it's AA but unfortunately it's not rett
The correct answer is A. The stem describes
the œcherry-red retinal lesions characteristically
seen in infantile Tay-Sachs disease. Absence
of hexosaminidase A in WBCs is diagnostic
for Tay-Sachs disease. Tay-Sachs has an
autosomal recessive inheritance. It is most
prevalent among Ashkenazi Jews (1:25“30 are
carriers). Infantile Tay-Sachs presents at 4“5
months of age with loss of motor skills, increased
startle reaction to noise, and retinal
cherry-red spots. Seizures develop by 2 years of
age, and children typically do not survive past
4“5 years of age.
Answer B is incorrect. Defi ciency of
-glucocerebroside leads to accumulation of
glucocerebroside in the reticuloendothelial
system. Gaucher™s disease is diagnosed by the
presence of Gaucher cells in the bone marrow.
Gaucher cells have a characteristic œcrinkled
paper appearance. Patients typically present
in adolescence with bone pain, hepatosplenomegaly,
and anemia. Thrombocytopenia often
causes easy bleeding and bruising. On x-ray, an
Erlenmeyer fl ask deformity of the distal femur
is commonly noted.
Answer C is incorrect. Presence of phenylketones
in the urine is diagnostic for PKU. PKU
presents with fair skin, eczema, and musty body
odor. As the child ages, mental retardation, hyperactivity
with purposeless movements, rhythmic
rocking, and athetosis will become evident
if left untreated.
Answer D is incorrect. Krabbe™s disease results
from the absence of -galactosidase and leads
to accumulation of galactocerebroside. This
disease presents during the fi rst year of life with
optic atrophy, seizures, and spasticity. Opisthotonos,
or abnormal posturing characterized by
rigidity and arching of the back with the neck
hyperextended, occurs, and the child usually
dies by age 3 years.
Answer E is incorrect. Niemann-Pick disease
results from defi ciency of sphingomyelinase,
leading to a build-up of sphingomyelin and cholesterol.
Type A presents with hepatosplenomegaly,
failure to thrive, and rapidly progressive neurodevelopmental
regression leading to spasticity
and rigidity in later stages. Type B has a more
variable course and pulmonary involvement.
Posts: 3,675,937
Threads: 734,344
Joined:
Sep 2021
Reputation:
5
cherry red macula.....tay sachs but no idea what it cause.......
