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CROSSWORD
RULES
• . Questions will be displayed. Team has to answer within 30s.
• Crossword must be submitted at the end of the round.
• +1 for each correct answer
• No negative marking
• PLEASE DO NOT SHOUT ANSWERS ( UNLESS YOU WANT YOUR
OPPONENTS TO WIN :P )
ACROSS
3. Antifungal which causes nodular
hypertrophic osteoarthropathy.
6. What is the endemic index used for
epidemiological studies of hookworm infection
for assessing the mortality and morbidity?
9.
10. Name the gene implicated in
the above conditions.
DOWN
1. Parahemophilia is due to deficiency of factor
_______ ?
2. Krabbe disease is d/t deficiency of
β_______?
4. This figure shows HPE of Spitz nevi. What is the
marked structure known as ______ bodies?
5. Subthalamic nucleus is also known as
Body of _______________ ?
7.
?
8. Newly approved drug for radical
cure of plasmodium vivax?
ACROSS
3. Antifungal which causes nodular
hypertrophic osteoarthropathy.
Voriconazole
6. What is the endemic index used for
epidemiological studies of hookworm infection
for assessing the mortality and morbidity?
Chandler’s Index
9.
Incaprettamento
10. Name the gene implicated in
the above conditions.
Goosecoid
DOWN
1. Parahemophilia is due to deficiency of factor
_______ ?
Five
2. Krabbe disease is d/t deficiency of
β_______?
β-galactosidase
4. This figure shows HPE of Spitz nevi. What is the
marked structure known as ______ bodies?
Kamino bodies
5. Subthalamic nucleus is also known as
Body of _______________ ?
Body of Luys
7.
?
Subiculum
8. Newly approved drug for radical
cure of plasmodium vivax?
Tafenoquine
CASE HISTORY
RULES
• Total of 6 questions with 1 question per team. Pounce is allowed.
• Plus 10 for correct answer. Minus 5 for incorrect guess.
• 1 minute for answering questions.
• Pounce window closes in 30 seconds.
• Negative marks are only for pounce. Teams having direct question won’t
have any negative marking.
• IF YOU POUNCE , PLEASE DO NOT SHOUT THE ANSWER. JUST SAY
POUNCE AND WRITE THE ANSWER IN THE SHEET WHICH WILL BE
CHECKED BY VOLUNTEERS.
• A 12 yr old male patient , born to normal parents with no h/o consanguinity ,
came to our hospital with c/c of inability to close his mouth since birth. Mother
gives a history of attempted abortion at a local hospital which was unsuccessful
and child was delivered.
• O/E patient was thin built and undernourished with BMI < 18. No abnormality is
noted in upper and lower limb. Sensory system was intact.
• Neurological examination reveals loss of motor functions on left side of face and
unable to close his left eye or raise left eyebrow. No wrinkles were noted on left
and patient was unable to whistle or blow his mouth.
• There was also inability to abduct his lt eye
• Fissured tongue is also noted.
Q) DIAGNOSIS AND PROBABLE ETIOLOGY
MOBEUIS SYNDROME d/t MISOPROSTOL
Reference :
http://www.jiaomr.in/downloadpdf.asp?issn=09721363;year=2011;volume=23;issue=3;spage=267;ep
age=270;aulast=Raju;type=2
• A 52 yr old male diagnosed with CLL 2 years back and was treated with
chlorambucil , to which he complied for 6 months and left.
• Now , the patient is back with complaints of recurrent fever for 1.5 years,
neck swelling for 5 months and progressive abdominal swelling for 2 months.
Patient also reports night sweats and gives a history of significant weight loss.
Patient also reports transfusion of 7 units of blood in past week which
necessitated his transfer to hospital.
• O/E patient is pale , ill-looking , anicteric with b/l cervical lymphadenopathy (
5cmx7cm ) , Abdomen is greatly distended with 10cm , firm , nontender
hepatomegaly and 8cm , firm , non tender splenomegaly.
• Lab investigations reveal Hb 7gm/dl , TLC 8,20,000/dl , platelet count
50,000/mm3 , elevated uric acid and LDH. PBS shows large lymphoid cells
with abundant , deeply basophilic cytoplasm and nuceli are large with lacey
chromatin. BM aspiration reveals hypercellular marrow with abnormally
large lymphoid cells whose nuclei are large with open,vesicular chromatin
and prominent nucleoli.
• Immunophenotyping reveals CD 10 ,19 , 20 ,21 , 22 ,23, 79a , SIgM , SIgD.
• t(14:18) and bcl6 are also found.
Q) DIAGNOSIS?
BM ASPIRATE:
RICHTER TRANSFORMATION OF CLL
R-CHOP REGIMEN
• Reference : https://www.karger.com/Article/PDF/189815
• https://www.ncbi.nlm.nih.gov/pubmed/23413591
• A 48-year-old Caucasian woman presented to our clinic with a three-month
history of abdominal pain, weight loss and difficulty in defecation. She had
used an intra-uterine device for 16 years, however it had recently been
removed.
• PAP smear reveals the following :
Q) IDENTIFY THE
STRUCTURE MARKED AS
“A”
PELVIC ACTINOMYCOSIS
GUPTA BODIES/DUST BUNNIES
• A male infant was born to a 26-year-old primigravida mother by vaginal
delivery at 25 weeks' gestational age and weighed 775 g.
• Nonconfluent erythematous maculopapular and micropapular
exanthema (1-mm diameter) with purpuric lesions as large as 2 to 3 mm
were noted at birth mostly located on the trunk, buttocks, and thighs
but absent from palms, plants, and scalp
• After initial resuscitation, the patient was admitted to the neonatal
intensive care unit . His clinical course continued to deteriorate, and he
died 24 hours later with septic shock
• anatomopathological examination shows miliary granulomas and areas
of necrosis and abscess formation, with liver involvement. Other lesions
include endocarditis and widespread abscesses.
• Blood culture taken at birth cultivated the following organism
GRANULOMATOSIS INFANTISEPTICA
• By listeria
• A 33-year-old female born of a noninbred marriage presented with
multiple soft tissue swellings since the age of 13 years. Physical
examination showed bony painless swellings on the phalanges of right foot
and multiple hemangiomas of over right side of right hand and foot, thigh
and lower limb. Examinations of her parents were normal.
• Radiographs showed multiple well-defined, irregularly expanded and
radiolucent lesions in Right hand phalanges, right humerus, femur, pelvis,
tibia and fibular head . Whole body bone scan showed multiple hot spots
in right humerus, femur, tibia and knee.
Q) ONCOMETABOLITE INVOLVED??
MAFUCCI SYNDROME
2 hydroxy glutarate
• A 24 year old recruit presented with complaints of weakness of the right lower
limb of one month duration. After neurological evaluation, a clinical impression
of compressive myelopathy at cervical vertebral levels C6-7 was made.
• Magnetic resonance imaging (MRI) of cervico-dorsal spine and brain was done
which revealed a mass in the left cerebellar hemisphere with predominant
cystic component along with a peripheral nodule which showed significant
contrast enhancement on intravenous gadolinium administration.
• patient was further investigated radiologically. An ultrasound of abdomen
showed multiple cortical cysts in both kidneys measuring 3-13 mm in diameter
.However , the liver, pancreas, spleen and adrenals were normal.
• There was no history of familial involvement.
• fundoscopic findings which revealed multiple angiomas in the right eye, for
which laser cauterization was done.
ans
• VHL SYNDROME
• CH-3
• No cutaneous manifestation
CONNECT
RULES
• 1min for each connector. Pounce is allowed.
• Pounce window will be closed in 30s.
• +20 for each correct answer with explanation. +10 for each correct answer with
no explanation. -10 for each wrong answer.
• Negative marks are only for pounce. Teams having direct question won’t have
any negative marking.
• IF YOU POUNCE , PLEASE DO NOT SHOUT THE ANSWER. JUST SAY POUNCE
AND WRITE THE ANSWER IN THE SHEET WHICH WILL BE CHECKED BY
VOLUNTEERS.
NEURAL CREST DERIVATIVES
CROHNS DISEASE
• COBBLESTONE APPEARANCE
• FECAL TRANSFER
• SKIP LESIONS
• COMB SIGN ON CT
SMALL CELL Ca
• Oats
• Azopardi effect
• Smoking association
• Salt and pepper appearance
HEMACHROMATOSIS
• BRONZE PIGMENTATION
• HEPATOMEGALY
• HCC
• SMEAR SHOWING CA PYROPHOSPHATE CRYSTALS
Post mortem caloricity
STOP CODON NAMES
• AMBRE
• OCHRE
• OPAL
• STOP
BIDDING
RULES
• A hint for the question will be showed as a picture
• Based on the hint ,Teams have to guess what the question could be and bid
certain amount of points
• Maximum amount of points that a team could bid is the exact number of
points the team is having at that moment.
• Minimum amount of point that could be bid is 1 point.
• Team can also choose not to bid. However they will not be eligible to
answer the particular question.
• If the team answers correctly and connect with hint, they get the amount
of points they have bid. If they answer correctly and couldn’t connect the
hint , they get half points they bid. However , if the answer is wrong they
lose all the points they have bid.
• A 2yr old boy presented with complaint of five episodes of bloody stools and
ecchymotic rashes. The rash initially started on the head and progressively
moved to all over the body.
• At the time of the admission there was no recent immunization done and the
patient was apyrexial. Prenatal and postnatal history was uneventful.
• same patient presented to the ER with epistaxis, malena and fever. On
examination several ecchymosis spots were observed over the body with
bruises found on lips and buccal cavity. This episode has occurred for 3 times
since his birth. He also has a history of recurrent infections .
• O/E multiple grouped papules were found over the body along with ecchymotic
patches
• CBC revealed microthrombocytopenia.
• Serum IgM levels are low but IgA and IgE are elevated.
• 3 days later patient died due to LRTI
Q) Such patients are prone for which
malignancy?
B cell lymphomas
• A 5-year-old male child, who presented with regression of milestones,
recurrent seizures ,spasticity , impaired swallowing and progressive loss of
vision from second year of life.
• Initially neurodegenerative disorder was considered and the case was
investigated with neuroimaging and enzyme levels. Computed tomography (CT)
of the brain showed hypodensities in the corpus callosum and bilateral
periventricular and deep cerebral white matter suggestive of
neurodegenerative disorder.
• Subsequently, magnetic resonance imaging (MRI) of the brain was done, which
showed symmetrical hyperintensities in the periventricular white matter with
classical sparing of subcortical "U" fibers.
• The β-galactosidase enzyme activity was normal; however, the activity of aryl
sulfatase A enzyme was undetectable.
METACHROMATIC LEUKODYSTROPHY
• Leopard skin/tigroid pattern
• A 6-year-old boy from a rural area came in to the hospital with a chief complaint
of a right axillary mass with progressive growth for 1 month. He denied
inflammatory signs or pain.
• He also complained of other enlarged lymph nodes in the neck ,inguinal and
epitrochlear regions with spontaneous resolution and intermittent articular pain
of the wrists, ankles and knees. His past medical history was unremarkable. He
had frequent contact with cattle and raw milk, but not with cats. He denied any
previous sick contacts.
• a diagnostic lymph node biopsy was done. Chronic granulomatous inflammation
was reported.
• Tuberculin skin test and gastric aspirates for acid fast bacilli staining
and Mycobacterium tuberculosis cultures were all negative. Serologies for
Cytomegalovirus, Toxoplasma gondii, Epstein–Barr virus, Brucella and HIV were
also nonreactive.
• a diagnostic lymph node biopsy was done. Chronic granulomatous inflammation
was reported with liquefaction necrosis and evidence of bacilli on Warthin
Starry staining .
Q) What ophthalmology finding do you
expect to find in this case??
MACULAR STAR : PAPILLEDEMA WITH
NEURORETINITIS
• A 25-year-old male presented with paroxysmal left upper limb tics and
weakness that had been ongoing for two years. The involuntary limb tics
exhibited a sudden onset and lasted for seconds, but were not
accompanied by consciousness disturbance. The patient had
approximately 10 attacks per day, which were accompanied by limb
weakness.
• Neurological examination revealed intact cranial nerves, but decreased
deep tendon reflexes and a decreased sensation of touch, pain and
vibration. The gait of the patient was broad and he was unable to walk in a
straight line. Ocular examination revealed RAPD.
• An electroencephalogram (EEG) revealed diffuse spikes and slow waves,
predominantly in the frontal and temporal lobes.
• A biopsy of the biceps muscle with modified Gomori staining
demonstrated the following :
Q) DIAGNOSIS?
MERRF
HINT
• A 4 yr old girl was admitted to hospital because of steatorrhea and short
stature.
• At the age of about three months, she presented to the hospital with
convulsion and neutropenia. Since then she has had frequent purulent
otitis media and pneumonias.
• During late infancy, steatorrhea with foul odor developed; the amount of
stool was large for age. CF panel was negative
• Investigations revealed anemia , thrombocytopenia neutropenia , low
levels of serum amylase , serum lipase and serum trypsin , AST and ALT
were elevated. Radiological examination revealed BA<CA , transverse
sclerotic changes were noted at metaphyses. Abdominal CT revealed
marked infiltration of pancreas.
• Genetic studies showed mutation in SBDS gene.
Q) DX?
• This is a case of Shwachman-diamond syndrome.

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WISSEN MEDIQUIZ 2018 MAINS

  • 2. RULES • . Questions will be displayed. Team has to answer within 30s. • Crossword must be submitted at the end of the round. • +1 for each correct answer • No negative marking • PLEASE DO NOT SHOUT ANSWERS ( UNLESS YOU WANT YOUR OPPONENTS TO WIN :P )
  • 4. 3. Antifungal which causes nodular hypertrophic osteoarthropathy.
  • 5.
  • 6. 6. What is the endemic index used for epidemiological studies of hookworm infection for assessing the mortality and morbidity?
  • 7.
  • 8. 9.
  • 9.
  • 10. 10. Name the gene implicated in the above conditions.
  • 11.
  • 12. DOWN
  • 13. 1. Parahemophilia is due to deficiency of factor _______ ?
  • 14.
  • 15. 2. Krabbe disease is d/t deficiency of β_______?
  • 16.
  • 17. 4. This figure shows HPE of Spitz nevi. What is the marked structure known as ______ bodies?
  • 18.
  • 19. 5. Subthalamic nucleus is also known as Body of _______________ ?
  • 20.
  • 21. 7. ?
  • 22.
  • 23. 8. Newly approved drug for radical cure of plasmodium vivax?
  • 24.
  • 25.
  • 27. 3. Antifungal which causes nodular hypertrophic osteoarthropathy.
  • 29. 6. What is the endemic index used for epidemiological studies of hookworm infection for assessing the mortality and morbidity?
  • 31. 9.
  • 33. 10. Name the gene implicated in the above conditions.
  • 35. DOWN
  • 36. 1. Parahemophilia is due to deficiency of factor _______ ?
  • 37. Five
  • 38. 2. Krabbe disease is d/t deficiency of β_______?
  • 40. 4. This figure shows HPE of Spitz nevi. What is the marked structure known as ______ bodies?
  • 42. 5. Subthalamic nucleus is also known as Body of _______________ ?
  • 44. 7. ?
  • 46. 8. Newly approved drug for radical cure of plasmodium vivax?
  • 49. RULES • Total of 6 questions with 1 question per team. Pounce is allowed. • Plus 10 for correct answer. Minus 5 for incorrect guess. • 1 minute for answering questions. • Pounce window closes in 30 seconds. • Negative marks are only for pounce. Teams having direct question won’t have any negative marking. • IF YOU POUNCE , PLEASE DO NOT SHOUT THE ANSWER. JUST SAY POUNCE AND WRITE THE ANSWER IN THE SHEET WHICH WILL BE CHECKED BY VOLUNTEERS.
  • 50. • A 12 yr old male patient , born to normal parents with no h/o consanguinity , came to our hospital with c/c of inability to close his mouth since birth. Mother gives a history of attempted abortion at a local hospital which was unsuccessful and child was delivered. • O/E patient was thin built and undernourished with BMI < 18. No abnormality is noted in upper and lower limb. Sensory system was intact. • Neurological examination reveals loss of motor functions on left side of face and unable to close his left eye or raise left eyebrow. No wrinkles were noted on left and patient was unable to whistle or blow his mouth. • There was also inability to abduct his lt eye • Fissured tongue is also noted. Q) DIAGNOSIS AND PROBABLE ETIOLOGY
  • 51.
  • 52.
  • 53. MOBEUIS SYNDROME d/t MISOPROSTOL Reference : http://www.jiaomr.in/downloadpdf.asp?issn=09721363;year=2011;volume=23;issue=3;spage=267;ep age=270;aulast=Raju;type=2
  • 54. • A 52 yr old male diagnosed with CLL 2 years back and was treated with chlorambucil , to which he complied for 6 months and left. • Now , the patient is back with complaints of recurrent fever for 1.5 years, neck swelling for 5 months and progressive abdominal swelling for 2 months. Patient also reports night sweats and gives a history of significant weight loss. Patient also reports transfusion of 7 units of blood in past week which necessitated his transfer to hospital. • O/E patient is pale , ill-looking , anicteric with b/l cervical lymphadenopathy ( 5cmx7cm ) , Abdomen is greatly distended with 10cm , firm , nontender hepatomegaly and 8cm , firm , non tender splenomegaly. • Lab investigations reveal Hb 7gm/dl , TLC 8,20,000/dl , platelet count 50,000/mm3 , elevated uric acid and LDH. PBS shows large lymphoid cells with abundant , deeply basophilic cytoplasm and nuceli are large with lacey chromatin. BM aspiration reveals hypercellular marrow with abnormally large lymphoid cells whose nuclei are large with open,vesicular chromatin and prominent nucleoli. • Immunophenotyping reveals CD 10 ,19 , 20 ,21 , 22 ,23, 79a , SIgM , SIgD. • t(14:18) and bcl6 are also found. Q) DIAGNOSIS?
  • 56.
  • 57. RICHTER TRANSFORMATION OF CLL R-CHOP REGIMEN • Reference : https://www.karger.com/Article/PDF/189815 • https://www.ncbi.nlm.nih.gov/pubmed/23413591
  • 58. • A 48-year-old Caucasian woman presented to our clinic with a three-month history of abdominal pain, weight loss and difficulty in defecation. She had used an intra-uterine device for 16 years, however it had recently been removed. • PAP smear reveals the following : Q) IDENTIFY THE STRUCTURE MARKED AS “A”
  • 59.
  • 61. • A male infant was born to a 26-year-old primigravida mother by vaginal delivery at 25 weeks' gestational age and weighed 775 g. • Nonconfluent erythematous maculopapular and micropapular exanthema (1-mm diameter) with purpuric lesions as large as 2 to 3 mm were noted at birth mostly located on the trunk, buttocks, and thighs but absent from palms, plants, and scalp • After initial resuscitation, the patient was admitted to the neonatal intensive care unit . His clinical course continued to deteriorate, and he died 24 hours later with septic shock • anatomopathological examination shows miliary granulomas and areas of necrosis and abscess formation, with liver involvement. Other lesions include endocarditis and widespread abscesses. • Blood culture taken at birth cultivated the following organism
  • 62.
  • 63.
  • 65. • A 33-year-old female born of a noninbred marriage presented with multiple soft tissue swellings since the age of 13 years. Physical examination showed bony painless swellings on the phalanges of right foot and multiple hemangiomas of over right side of right hand and foot, thigh and lower limb. Examinations of her parents were normal. • Radiographs showed multiple well-defined, irregularly expanded and radiolucent lesions in Right hand phalanges, right humerus, femur, pelvis, tibia and fibular head . Whole body bone scan showed multiple hot spots in right humerus, femur, tibia and knee.
  • 67.
  • 69. • A 24 year old recruit presented with complaints of weakness of the right lower limb of one month duration. After neurological evaluation, a clinical impression of compressive myelopathy at cervical vertebral levels C6-7 was made. • Magnetic resonance imaging (MRI) of cervico-dorsal spine and brain was done which revealed a mass in the left cerebellar hemisphere with predominant cystic component along with a peripheral nodule which showed significant contrast enhancement on intravenous gadolinium administration. • patient was further investigated radiologically. An ultrasound of abdomen showed multiple cortical cysts in both kidneys measuring 3-13 mm in diameter .However , the liver, pancreas, spleen and adrenals were normal. • There was no history of familial involvement. • fundoscopic findings which revealed multiple angiomas in the right eye, for which laser cauterization was done.
  • 70.
  • 71.
  • 72. ans • VHL SYNDROME • CH-3 • No cutaneous manifestation
  • 74. RULES • 1min for each connector. Pounce is allowed. • Pounce window will be closed in 30s. • +20 for each correct answer with explanation. +10 for each correct answer with no explanation. -10 for each wrong answer. • Negative marks are only for pounce. Teams having direct question won’t have any negative marking. • IF YOU POUNCE , PLEASE DO NOT SHOUT THE ANSWER. JUST SAY POUNCE AND WRITE THE ANSWER IN THE SHEET WHICH WILL BE CHECKED BY VOLUNTEERS.
  • 75.
  • 76.
  • 78.
  • 79.
  • 80. CROHNS DISEASE • COBBLESTONE APPEARANCE • FECAL TRANSFER • SKIP LESIONS • COMB SIGN ON CT
  • 81.
  • 82.
  • 83. SMALL CELL Ca • Oats • Azopardi effect • Smoking association • Salt and pepper appearance
  • 84.
  • 85.
  • 86. HEMACHROMATOSIS • BRONZE PIGMENTATION • HEPATOMEGALY • HCC • SMEAR SHOWING CA PYROPHOSPHATE CRYSTALS
  • 87.
  • 88.
  • 90.
  • 91.
  • 92. STOP CODON NAMES • AMBRE • OCHRE • OPAL • STOP
  • 94. RULES • A hint for the question will be showed as a picture • Based on the hint ,Teams have to guess what the question could be and bid certain amount of points • Maximum amount of points that a team could bid is the exact number of points the team is having at that moment. • Minimum amount of point that could be bid is 1 point. • Team can also choose not to bid. However they will not be eligible to answer the particular question. • If the team answers correctly and connect with hint, they get the amount of points they have bid. If they answer correctly and couldn’t connect the hint , they get half points they bid. However , if the answer is wrong they lose all the points they have bid.
  • 95.
  • 96. • A 2yr old boy presented with complaint of five episodes of bloody stools and ecchymotic rashes. The rash initially started on the head and progressively moved to all over the body. • At the time of the admission there was no recent immunization done and the patient was apyrexial. Prenatal and postnatal history was uneventful. • same patient presented to the ER with epistaxis, malena and fever. On examination several ecchymosis spots were observed over the body with bruises found on lips and buccal cavity. This episode has occurred for 3 times since his birth. He also has a history of recurrent infections . • O/E multiple grouped papules were found over the body along with ecchymotic patches • CBC revealed microthrombocytopenia. • Serum IgM levels are low but IgA and IgE are elevated. • 3 days later patient died due to LRTI
  • 97. Q) Such patients are prone for which malignancy?
  • 98.
  • 100.
  • 101. • A 5-year-old male child, who presented with regression of milestones, recurrent seizures ,spasticity , impaired swallowing and progressive loss of vision from second year of life. • Initially neurodegenerative disorder was considered and the case was investigated with neuroimaging and enzyme levels. Computed tomography (CT) of the brain showed hypodensities in the corpus callosum and bilateral periventricular and deep cerebral white matter suggestive of neurodegenerative disorder. • Subsequently, magnetic resonance imaging (MRI) of the brain was done, which showed symmetrical hyperintensities in the periventricular white matter with classical sparing of subcortical "U" fibers. • The β-galactosidase enzyme activity was normal; however, the activity of aryl sulfatase A enzyme was undetectable.
  • 102.
  • 104.
  • 105. • A 6-year-old boy from a rural area came in to the hospital with a chief complaint of a right axillary mass with progressive growth for 1 month. He denied inflammatory signs or pain. • He also complained of other enlarged lymph nodes in the neck ,inguinal and epitrochlear regions with spontaneous resolution and intermittent articular pain of the wrists, ankles and knees. His past medical history was unremarkable. He had frequent contact with cattle and raw milk, but not with cats. He denied any previous sick contacts. • a diagnostic lymph node biopsy was done. Chronic granulomatous inflammation was reported. • Tuberculin skin test and gastric aspirates for acid fast bacilli staining and Mycobacterium tuberculosis cultures were all negative. Serologies for Cytomegalovirus, Toxoplasma gondii, Epstein–Barr virus, Brucella and HIV were also nonreactive. • a diagnostic lymph node biopsy was done. Chronic granulomatous inflammation was reported with liquefaction necrosis and evidence of bacilli on Warthin Starry staining .
  • 106. Q) What ophthalmology finding do you expect to find in this case??
  • 107.
  • 108. MACULAR STAR : PAPILLEDEMA WITH NEURORETINITIS
  • 109.
  • 110. • A 25-year-old male presented with paroxysmal left upper limb tics and weakness that had been ongoing for two years. The involuntary limb tics exhibited a sudden onset and lasted for seconds, but were not accompanied by consciousness disturbance. The patient had approximately 10 attacks per day, which were accompanied by limb weakness. • Neurological examination revealed intact cranial nerves, but decreased deep tendon reflexes and a decreased sensation of touch, pain and vibration. The gait of the patient was broad and he was unable to walk in a straight line. Ocular examination revealed RAPD. • An electroencephalogram (EEG) revealed diffuse spikes and slow waves, predominantly in the frontal and temporal lobes. • A biopsy of the biceps muscle with modified Gomori staining demonstrated the following :
  • 112.
  • 113. MERRF
  • 114. HINT
  • 115. • A 4 yr old girl was admitted to hospital because of steatorrhea and short stature. • At the age of about three months, she presented to the hospital with convulsion and neutropenia. Since then she has had frequent purulent otitis media and pneumonias. • During late infancy, steatorrhea with foul odor developed; the amount of stool was large for age. CF panel was negative • Investigations revealed anemia , thrombocytopenia neutropenia , low levels of serum amylase , serum lipase and serum trypsin , AST and ALT were elevated. Radiological examination revealed BA<CA , transverse sclerotic changes were noted at metaphyses. Abdominal CT revealed marked infiltration of pancreas. • Genetic studies showed mutation in SBDS gene.
  • 116. Q) DX?
  • 117.
  • 118. • This is a case of Shwachman-diamond syndrome.