Mystery Case - Answers Due September 17, Neurology Resident & Fellow Mystery Case. A 2-month old girl with difficulty swallowing
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1 Mystery Case - Answers Due September 17, 2018 Neurology Resident & Fellow Mystery Case Page description: August 27, 2018 New Mystery Case! A 2-month old girl with difficulty swallowing Adapted from a NeuroImage by N Bilgin, S Parlak, PO Simsek-Kiper, M Topcu, and H Topaloglu. This case will be published in full format in the November 27, 2018, issue of Neurology. Please enter your demographic details at the end of the Mystery Case to help us better track responses (demographic information will remain anonymous). To receive recognition for your responses, enter your name and affiliation (optional). This information may be displayed, along with your number of correct answers, on the Neurology.org public website if you enter the most correct answers within one year. A 2-month old baby girl was evaluated for swallowing difficulties. She had an unremarkable birth history. On exam, she had normal suck, Moro, and grasp reflexes but could not swallow. There was sagging of her soft palate. She had a right ear hearing impairment.
2 1. MRI Brain slices (T2) obtained at 13 days of life are shown below. What are the key findings seen on imaging? (select all that apply) * agenesis of the corpus callosum agenesis of the cerebellar vermis flattening of the ventral midbrain flattening of the dorsal midbrain flattening of the ventral pons flattening of the dorsal pons flattening of the ventral medulla flattening of the dorsal medulla protrusion of the ventral pons protrusion of the dorsal pons protrusion of the ventral medulla protrusion of the dorsal medulla thin left side of the pons thin right side of the pons thin left side of the medulla thin right side of the medulla protrusion of the dorsal midbrain Mystery Case Question #2
3 2. What is the most likely diagnosis? (pick one) * tubulinopathy Olivo-ponto-cerebellar atrophy Dandy-Walker malformation Joubert syndrome rhomboencephalosynapsis pontocerebellar hypoplasia type 2 pontine tegmental cap dysplasia macrocerebellum muscle-eye-brain disease Poretti-Boltshauser syndrome brainstem disconnection athabascan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome phosphomannomutase deficiency oculocerebrocutaneous syndrome chiari I malformation Demographics Page description: Please answer the following questions to help us better track responses. Answers to these questions will remain anonymous. 3. How many years have you been in practice? * Over What is your primary work setting? * Academic Based Government Based Hospital Based Multispecialty Group Neurology Group Other Public or Private Hospital or Clinic Solo Practice
4 5. What is your current level of training? * Faculty/Board certified physician Resident/Fellow Medical Student Advanced Practice Provider 6. Do you currently reside in the United States? * Yes No 7. If no, in which country do you reside? Optional Information Page description: Please enter your information here to receive credit for your answers. 8. Please enter the information below. This information is optional. Name Institution/Affiliation Thank You! Thank you for participating the Neurology Resident & Fellow Mystery Case! The Mystery Case in full along with answers will be published in the November 27, 2018, issue of Neurology. Please submit any feedback to Journal@neurology.org and a staff member will be in touch. To view current responses and results, please click here.
5 Report for Mystery Case - Answers Due September 17, 2018 Response Counts C o mpletio n Ra te: 6 6.1% Complete 158 Partial 81 T o ta ls : MRI Brain slices (T 2) obtained at 13 days of life are shown below. What are the key findings seen on imaging? (select all that apply)
6 60 40 Percent 20 0 agenesis of the corpus callosum agenesis of the cerebellar vermis flattening of the ventral midbrain flattening of the ventral pons flattening of the dorsal midbrain flattening of the dorsal pons flattening of the dorsal medulla flattening of the ventral medulla protrusion of the ventral pons protrusion of the dorsal midbrain protrusion of the dorsal pons protrusion of the dorsal medulla protrusion of the ventral medulla thin left side of the pons thin right side of the pons thin left side of the medulla thin right side of the medulla
7 Value Percent ag enesis of the corpus callosum 53.5% ag enesis of the cerebellar vermis 24.3% flattening of the ventral midbrain 12.6% flattening of the dorsal midbrain 5.2% flattening of the ventral pons 23.5% flattening of the dorsal pons 7.0 % flattening of the ventral medulla 5.2% flattening of the dorsal medulla 2.6% protrusion of the dorsal midbrain 7.8% protrusion of the ventral pons 25.7% protrusion of the dorsal pons 12.2% protrusion of the ventral medulla 5.2% protrusion of the dorsal medulla 5.7% thin left side of the pons 6.1% thin rig ht side of the pons 32.6% thin left side of the medulla 2.6% thin rig ht side of the medulla 8.7% 2. What is the most likely diagnosis? (pick one)
8 4% chiari I malformation 7% athabascan brainstem dysgenesis syndrome 4% Poretti-Boltshauser syndrome 5% muscle-eye-brain disease 15% pontine tegmental cap dysplasia 6% All Others 5% tubulinopathy 17% Olivo-ponto-cerebellar atrophy 8% Dandy-Walker malformation 12% Joubert syndrome 15% pontocerebellar hypoplasia type 2 5% rhomboencephalosynapsis
9 Value Percent tubulinopathy 4.6% Olivo-ponto-cerebellar atrophy 16.8% Dandy-Walker malformation 7.6% Joubert syndrome 11.7% rhomboencephalosynapsis 4.6% pontocerebellar hypoplasia type % pontine teg mental cap dysplasia 14.7% muscle-eye-brain disease 5.1% Poretti-Boltshauser syndrome 3.6% brainstem disconnection 1.5% athabascan brainstem dysg enesis syndrome 6.6% Bosley-Salih-Alorainy syndrome 2.5% phosphomannomutase deficiency 0.5% oculocerebrocutaneous syndrome 1.0 % chiari I malformation 4.1% 3. How many years have you been in practice?
10 6% Over 10 19% % 1-4 Value Percent % % Over % 4. What is your primary work setting?
11 5% Other Public or Private Hospital or Clinic 8% Solo Practice 10% Neurology Group 1% Multispecialty Group 44% Academic Based 27% Hospital Based 5% Government Based Value Percent Academic Based 44.3% Government Based 4.5% Hospital Based 27.3% Multispecialty Group 1.1% Neurolog y Group 9.7% Other Public or Private Hospital or Clinic 5.1% Solo Practice 8.0 % 5. What is your current level of training?
12 2% Advanced Practice Provider 9% Medical Student 30% Faculty/Board certified physician 59% Resident/Fellow Value Percent Faculty/Board certified physician 29.9% Resident/Fellow 59.3% Medical Student 9.0 % Advanced Practice Provider 1.7% 6. Do you currently reside in the United States?
13 40% Yes 60% No Value Percent Yes 40.1% No 59.9% 7. If no, in which country do you reside?
14 6% Brazil 8% Canada 11% India 45% All Others 6% Italy 4% Japan 9% United States 5% Turkey 6% Mexico Value Percent Brazil 5.5% Canada 8.3% India 11.0 % Italy 6.4% Japan 3.7% Mexico 5.5% T urkey 4.6% United States 9.2% Andorra 0.9% Ang ola 0.9% Arg entina 1.8% Australia 1.8% Austria 0.9%
15 Value Percent Bahrain 0.9% Belg ium 0.9% Chile 0.9% Colombia 1.8% Czech Republic 0.9% Eg ypt 1.8% France 0.9% Georg ia 1.8% Germany 2.8% Greece 0.9% Guyana 0.9% Hong Kong SAR China 0.9% Indonesia 0.9% Iran 1.8% Laos 0.9% Malaysia 0.9% Monteneg ro 0.9% Nepal 0.9% Netherlands 0.9% New Zealand 1.8% Pakistan 0.9% Peru 0.9% Qatar 0.9%
16 Value Percent Romania 0.9% Saudi Arabia 0.9% Slovakia 0.9% Spain 1.8% Switzerland 0.9% Syria 0.9% T aiwan 0.9% Ukraine 1.8% United King dom 2.8%
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