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.
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 1. What are the key findings shown? (Select all that apply) *
Microcephaly Cutis aplasia
Macrocephaly Low-set ears
Alopecia areata Pili torti
Telogen effluvium Pili annulti
Kinky hairs Pili pseudoannulati
Loose skin folds Trichothiodystrophy
Leukonychia Trichorrhexis invaginata
Koilonychia Trichorrhexis nodosa
Polydactyly Trichostasis spinulosa
Congenital trigger digits Trichomegaly
Mystery Case Question #2 The child went on to receive skeletal X-rays and MRI/MRA Brain, shown below (Figure 2).
Figure 2 2. What are the key findings shown? (Select all that apply) *
Wimberger ring Open skull fracture
Pencil-point cortex Left MCA aneurysm
Frankel line Right MCA aneurysm
Metaphyseal spurs Left carotid origin stenosis
Metaphyseal corner fractures Right carotid origin stenosis
Diaphyseal aclasis Bilateral vertebral artery ectasia
Diaphyseal fractures Tortuous extracranial arteries
Fibrous dysplasia Tortuous intracranial arteries
Scorbutic rosary Bilateral internal carotid dissections
Wormian bone 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 Menkes disease, ATP7A
Tuberous sclerosis, TSC1/2 Patau syndrome, Trisomy 13
Mucopolysaccharidosis IIIA, SGSH Netherton syndrome, SPINK5
Metachromatic leukodystrophy, Argininosuccinic aciduria, ASL ARSA Wilson disease, ATP7B Myoclonic epilepsy with ragged red fibers, MT-TK
Demographics Report for Mystery Case - Answers Due January 8
Response Counts
Completion Rate: 62.2%
Complete 92
Partial 56
Totals: 148
1. What are the key findings shown? (Select all that apply) 60
40 t n e c r e P
20
0
y y a s s a a y s a s ti lti ti y a a a y l l t m ir d i i l it i r r u la h t s s l a a a iu a l h h ty ig s a to n u p a o o a h h re v h fo c c c d la e li n n o in d l g p p a lu y y a p t i a n tr g o u e e e ff y in n n d r a e P i a s a n in m c c ia e k k o ilo ly e s s il o y v p o ro ro c in s k o o g ti - P d d in is s h c c e n K e u K ig u w u o x s ic i a p e s e P tr o e i is e i r M o g o L l C L s th x h s T M l lo o ta p o e rr ta A e L i li h h o s T n i ic rr h o e P r o c h g T h ri ic n c T r o ri T C T Value Percent Responses
Microcephaly 22.9% 33
Macrocephaly 6.3% 9
Alopecia areata 29.2% 42
Telogen 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
Trichothiodystrophy 10.4% 15
Trichorrhexis invaginata 1.4% 2
Trichorrhexis nodosa 9.0% 13
Trichostasis spinulosa 0.7% 1
Trichomegaly 3.5% 5 2. What are the key findings shown? (Select all that apply)
60
40 t n e c r e P 20
0
g x e rs s is s ia ry e re m m is is ia s s s m in te lin u re s re s a n u s s s s s ie ie n s r r l p u la u la s o t y y o o ta r r tio y r o e s t c t p o b c r r n n c te te c r e c k l c a c s r n ra u u te te e r r e u rg t n a ra l ra y c ia f e e s s l a l a s e e in a e f a f d ti ll n n ry a a s n b o r s r e l u rm u a a in in e i i i a p F y e s a s b o k A A ig ig t n n d ip im il- h n y e u r s r r r ra ra id t c p r h s ro o W n C C o o l a c c t r W n ta o p y b c e M M a a a o la e e l c ia h i S p t t tid tid r r r r i P a p F f h o o b t t a s M e D ia O e ig r r e x in l c a s D L a a rt e s a B y R c c e s u n h ft t v u o r p e h l o u te a L ig ra tu rt n t R e r o l i e t o T a M ila T r B te ila B 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
Tortuous extracranial arteries 27.6% 29
Tortuous intracranial arteries 55.2% 58
Bilateral internal carotid dissections 1.0% 1
Basilar tip aneurysm 3.8% 4 3. What is the most likely diagnosis and most commonly associated gene or chromosome? (Single response)
4% Argininosuccinic aciduria, 3% Ohtahara syndrome, SCN2A ASL 4% Tuberous sclerosis, TSC1/2 4% Netherton syndrome, SPINK5 5% Mucopolysaccharidosis IIIA, 4% Patau syndrome, Trisomy 13 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
Tuberous sclerosis, TSC1/2 3.9% 4
Mucopolysaccharidosis IIIA, SGSH 4.9% 5
Metachromatic leukodystrophy, ARSA 2.9% 3
Myoclonic epilepsy with ragged red fibers, MT-TK 2.0% 2
Menkes disease, ATP7A 71.6% 73
Patau syndrome, Trisomy 13 3.9% 4
Netherton syndrome, SPINK5 3.9% 4
Argininosuccinic aciduria, ASL 3.9% 4
Totals: 10 2 4. How many years have you been in practice?
5% Over 10
4% 5-10
10% 5
80% 1-4
Value Percent Responses
1-4 80.2% 77
5 10.4% 10
5-10 4.2% 4
Over 10 5.2% 5
Totals: 96
5. What is your primary work setting? 4% Solo Practice
4% Other Public or Private Hospital or Clinic
3% Neurology Group
1% Multispecialty Group
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
Totals: 96
6. What is your current level of training? 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
Totals: 96
7. Do you currently reside in the United States? 49% Yes 51% No
Value Percent Responses
Yes 49.0% 47
No 51.0% 49
Totals: 96
8. If no, in which country do you reside? 3% Option 1
3% Belgium
3% Brazil
5% Canada
3% Colombia
4 411%% A All lO Otthheerrss 8% Egypt
3% Georgia
3% India
3% Jordan
3% Pakistan
3% Portugal
3% Saudi Arabia 10% United States 3% United Kingdom
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
Totals: 60 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 Territories 1.7% 1
Totals: 60 Value Percent Responses
Romania 1.7% 1
South Africa 1.7% 1
Spain 1.7% 1
Syria 1.7% 1
Turkey 1.7% 1
Ukraine 1.7% 1
Yemen 1.7% 1
Totals: 60