Mystery Case - Answers Due January 8

Transcription

1 Mystery Case - Answers Due January 8 Neurology Resident & Fellow Mystery Case Page description: December 11, 2017 New Mystery Case! A 5-month-old boy with refractory epilepsy Adapted from a Teaching Neuroimage by IK Sharawat, R Suthar, S Vyas, A Rawat, and N Sankhyan. This case will be published in full format in the March 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.

2 A 5-month-old boy, born to a third-degree consanguineous couple, presented with drug-refractory seizures. Examination showed generalized hypotonia and the findings shown in Figure 1. Hair microscopy was performed and are shown below. Figure 1

3 1. What are the key findings shown? (Select all that apply) * Microcephaly Macrocephaly Alopecia areata Telogen effluvium Kinky hairs Loose skin folds Leukonychia Koilonychia Polydactyly Congenital trigger digits Cutis aplasia Low-set ears Pili torti Pili annulti Pili pseudoannulati Trichothiodystrophy Trichorrhexis invaginata Trichorrhexis nodosa Trichostasis spinulosa Trichomegaly Mystery Case Question #2

4 The child went on to receive skeletal X-rays and MRI/MRA Brain, shown below (Figure 2). Figure 2

5 2. What are the key findings shown? (Select all that apply) * Wimberger ring Pencil-point cortex Frankel line Metaphyseal spurs Metaphyseal corner fractures Diaphyseal aclasis Diaphyseal fractures Fibrous dysplasia Scorbutic rosary Wormian bone Open skull fracture Left MCA aneurysm Right MCA aneurysm Left carotid origin stenosis Right carotid origin stenosis Bilateral vertebral artery ectasia Tortuous extracranial arteries Tortuous intracranial arteries Bilateral internal carotid dissections Basilar tip aneurysm Mystery Case Question #3 3. What is the most likely diagnosis and most commonly associated gene or chromosome? (Single response) * Ohtahara syndrome, SCN2A Tuberous sclerosis, TSC1/2 Mucopolysaccharidosis IIIA, SGSH Metachromatic leukodystrophy, ARSA Myoclonic epilepsy with ragged red fibers, MT-TK Menkes disease, ATP7A Patau syndrome, Trisomy 13 Netherton syndrome, SPINK5 Argininosuccinic aciduria, ASL Wilson disease, ATP7B Demographics

6 Report for Mystery Case - Answers Due January 8 Response Counts Complet ion Rat e: 62.2% Complete 92 Partial 56 T ot als: What are the key finding s shown? (Select all that apply)

7 60 40 Percent 20 0 Microcephaly Macrocephaly Alopecia areata Telogen effluvium Kinky hairs Loose skin folds Leukonychia Koilonychia Polydactyly Congenital trigger digits Cutis aplasia Low-set ears Pili torti Pili annulti Pili pseudoannulati Trichothiodystrophy Trichorrhexis invaginata Trichorrhexis nodosa Trichostasis spinulosa Trichomegaly

8 Value Percent Responses Microcephaly 22.9% 33 Macrocephaly 6.3% 9 Alopecia areata 29.2% 42 T elogen effluvium 4.9% 7 Kinky hairs 59.7% 86 Loose skin folds 38.9% 56 Leukonychia 2.1% 3 Koilonychia 7.6% 11 Polydactyly 4.9% 7 Congenital trigger digits 11.1% 16 Cutis aplasia 10.4% 15 Low-set ears 22.9% 33 Pili torti 22.2% 32 Pili annulti 2.1% 3 Pili pseudoannulati 2.1% 3 T richothiodystrophy 10.4% 15 T richorrhexis invaginata 1.4% 2 T richorrhexis nodosa 9.0% 13 T richostasis spinulosa 0.7% 1 T richomegaly 3.5% 5

9 2. What are the key finding s shown? (Select all that apply) Percent 20 0 Wimberger ring Pencil-point cortex Frankel line Metaphyseal spurs Metaphyseal corner fractures Diaphyseal aclasis Diaphyseal fractures Fibrous dysplasia Scorbutic rosary Wormian bone Open skull fracture Left MCA aneurysm Right MCA aneurysm Left carotid origin stenosis Right carotid origin stenosis Bilateral vertebral artery ectasia Tortuous extracranial arteries Tortuous intracranial arteries Bilateral internal carotid dissections Basilar tip aneurysm

10 Value Percent Responses Wimberger ring 4.8% 5 Pencil-point cortex 9.5% 10 Frankel line 8.6% 9 Metaphyseal spurs 21.0% 22 Metaphyseal corner fractures 1.0% 1 Diaphyseal aclasis 15.2% 16 Diaphyseal fractures 1.0% 1 Fibrous dysplasia 21.9% 23 Scorbutic rosary 3.8% 4 Wormian bone 17.1% 18 Open skull fracture 1.9% 2 Left MCA aneurysm 12.4% 13 Right MCA aneurysm 1.9% 2 Left carotid origin stenosis 2.9% 3 Right carotid origin stenosis 4.8% 5 Bilateral vertebral artery ectasia 12.4% 13 T ortuous extracranial arteries 27.6% 29 T ortuous intracranial arteries 55.2% 58 Bilateral internal carotid dissections 1.0% 1 Basilar tip aneurysm 3.8% 4

11 3. What is the most likely diag nosis and most commonly associated g ene or chromosome? (Sing le response) 4% Patau syndrome, Trisomy 13 4% Argininosuccinic aciduria, ASL 4% Netherton syndrome, SPINK5 3% Ohtahara syndrome, SCN2A 4% Tuberous sclerosis, TSC1/2 5% Mucopolysaccharidosis IIIA, SGSH 3% Metachromatic leukodystrophy, ARSA 2% Myoclonic epilepsy with ragged red fibers, MT-TK 72% Menkes disease, ATP7A Value Percent Responses Ohtahara syndrome, SCN2A 2.9% 3 T uberous sclerosis, T SC1/2 3.9% 4 Mucopolysaccharidosis IIIA, SGSH 4.9% 5 Metachromatic leukodystrophy, ARSA 2.9% 3 Myoclonic epilepsy with ragged red fibers, MT -T K 2.0% 2 Menkes disease, AT P7A 71.6% 73 Patau syndrome, T risomy % 4 Netherton syndrome, SPINK5 3.9% 4 Argininosuccinic aciduria, ASL 3.9% 4 T ot als: 10 2

12 4. How many years have you been in practice? 4% % Over 10 10% 5 80% 1-4 Value Percent Responses % % % 4 Over % 5 T ot als: What is your primary work setting?

13 4% Other Public or Private Hospital or Clinic 3% Neurology Group 1% Multispecialty Group 4% Solo Practice 49% Academic Based 38% Hospital Based 1% Government Based Value Percent Responses Academic Based 49.0% 47 Government Based 1.0% 1 Hospital Based 37.5% 36 Multispecialty Group 1.0% 1 Neurology Group 3.1% 3 Other Public or Private Hospital or Clinic 4.2% 4 Solo Practice 4.2% 4 T ot als: What is your current level of training?

14 3% Advanced Practice Provider 9% Medical Student 20% Faculty/Board certified physician 68% Resident/Fellow Value Percent Responses Faculty/Board certified physician 19.8% 19 Resident/Fellow 67.7% 65 Medical Student 9.4% 9 Advanced Practice Provider 3.1% 3 T ot als: Do you currently reside in the United States?

15 51% No 49% Yes Value Percent Responses Yes 49.0% 47 No 51.0% 49 T ot als: If no, in which country do you reside?

16 3% Option 1 3% Belgium 3% Brazil 5% Canada 3% Colombia 41% All Others 8% Egypt 3% Georgia 3% India 3% Jordan 3% Pakistan 3% Portugal 10% United States 3% United Kingdom 3% Saudi Arabia Value Percent Responses Option 1 3.3% 2 Belgium 3.3% 2 Brazil 3.3% 2 Canada 5.0% 3 Colombia 3.3% 2 Egypt 8.3% 5 Georgia 3.3% 2 India 3.3% 2 Jordan 3.3% 2 Pakistan 3.3% 2 Portugal 3.3% 2 T ot als: 60

17 Value Percent Responses Saudi Arabia 3.3% 2 United Kingdom 3.3% 2 United States 10.0% 6 Albania 1.7% 1 Algeria 1.7% 1 Argentina 1.7% 1 Armenia 1.7% 1 Azerbaijan 1.7% 1 Bahrain 1.7% 1 Cambodia 1.7% 1 Cameroon 1.7% 1 Chile 1.7% 1 China 1.7% 1 Indonesia 1.7% 1 Iraq 1.7% 1 Ireland 1.7% 1 Japan 1.7% 1 Mali 1.7% 1 Netherlands 1.7% 1 Palestinian T erritories 1.7% 1 T ot als: 60

18 Value Percent Responses Romania 1.7% 1 South Africa 1.7% 1 Spain 1.7% 1 Syria 1.7% 1 T urkey 1.7% 1 Ukraine 1.7% 1 Yemen 1.7% 1 T ot als: 60